LANE 01 / 15Developmental origin
Birth / feeding
What was already visible before later labels appeared?
Pregnancy, delivery, neonatal course, latch, early feeding mechanics, reflux, growth entry point, and unusual support needed during infancy.
Primary chapter · Oral, GI, ENT & growth →61people, counted once
23 + 38mapped + unreported = 61
2mapped cells with formal evidence
21positive only
2positive + negative / unresolved
0negative only
0unresolved, no positive
38unreported
These five displayed states are mutually exclusive and total 61. The qualified-positive state combines positive content with an explicit-negative subfeature or unresolved candidate; the unresolved-without-positive state may also contain an explicit-negative subfeature.
CURRENT SIGNAL
Early feeding, reflux, growth-entry, neonatal, and support-needs histories are documented in 23 people; 38 profiles do not yet answer this early-life question.
SCIENTIFIC READING
Pregnancy, neonatal, and feeding history should define the developmental starting point; later diagnoses cannot reconstruct what was never captured.
NEXT MEASUREMENT
Use birth and neonatal records, serial growth, feeding mechanics, airway safety, early supports, and a dated developmental timeline.
PHENOTYPE VOCABULARY OBSERVED IN THE SOURCE CORPUS
Pregnancy & birth
- prenatal growth or exposure history
- prematurity
- fetal or perinatal rhythm concern
- delivery and neonatal complications
- jaundice or neonatal treatment
Early feeding mechanics
- latch or atypical suck
- bottle pattern and low volumes
- pacifier non-acceptance
- cheek stimulation or unusual feeding support
- fatigue, reflux, or large spit-ups
Early trajectory
- hypotonia or unusual tone
- early motor or communication differences
- failure to thrive or downward growth shift
- tube or specialist feeding support
- early airway or swallowing concern
SOURCE TYPES REVIEWED
- birth records
- growth curves
- feeding evaluations
- family chronology
The lane counts use the full 61-person matrix. The detailed vocabulary is the union of all mapped case material, including the 15 age-ordered deep packets; it was not assessed uniformly and is not a feature-frequency table.
LANE 02 / 15Molecular anchor
Genetics
What exactly is the molecular finding—and what is not established?
Transcript, cDNA and protein change, variant class, inheritance, laboratory classification, testing method, co-findings, and unresolved interpretation.
Primary chapter · Variant landscape →61people, counted once
59 + 2mapped + unreported = 61
21mapped cells with formal evidence
59positive only
0positive + negative / unresolved
0negative only
0unresolved, no positive
2unreported
These five displayed states are mutually exclusive and total 61. The qualified-positive state combines positive content with an explicit-negative subfeature or unresolved candidate; the unresolved-without-positive state may also contain an explicit-negative subfeature.
CURRENT SIGNAL
Fifty-nine people have a confirmed exact molecular line. Two additional roster rows retain a non-exact or unresolved molecular status and are not forced into position-based analysis.
SCIENTIFIC READING
Variant class is the beginning of mechanism, not a severity score. Transcript, inheritance, direction of effect, co-findings, and residual functional dosage remain essential.
NEXT MEASUREMENT
Cross-check the original laboratory report, transcript and isoform, parental testing, classification, CNV context, and allele-specific functional evidence.
PHENOTYPE VOCABULARY OBSERVED IN THE SOURCE CORPUS
Primary molecular line
- transcript and isoform
- cDNA and protein consequence
- variant class and laboratory classification
- testing method and report date
- inheritance and parental testing
Interpretive controls
- nonsense-mediated-decay context
- CNV boundaries and neighboring genes
- complex or mixed molecular architecture
- co-findings and second diagnoses
- pending or protein-undefined records
Recurrence & family structure
- exact-allele recurrence
- same-residue but different consequence
- familial segregation
- twin and relative structure
- public-source duplication versus independent people
SOURCE TYPES REVIEWED
- genetic report
- parental testing
- ClinVar context
- co-finding review
The lane counts use the full 61-person matrix. The detailed vocabulary is the union of all mapped case material, including the 15 age-ordered deep packets; it was not assessed uniformly and is not a feature-frequency table.
LANE 03 / 15Neurodevelopment
Development / language
How did skills emerge, plateau, fluctuate, or become accessible?
Motor and language milestones, receptive and expressive profiles, learning, memory access, apraxia, communication supports, and developmental trajectory.
Primary chapter · Development & memory →61people, counted once
42 + 19mapped + unreported = 61
9mapped cells with formal evidence
40positive only
1positive + negative / unresolved
0negative only
1unresolved, no positive
19unreported
These five displayed states are mutually exclusive and total 61. The qualified-positive state combines positive content with an explicit-negative subfeature or unresolved candidate; the unresolved-without-positive state may also contain an explicit-negative subfeature.
CURRENT SIGNAL
Observed performance changes with task structure, fatigue, illness, sensory load, medication, and communication access in the current record.
SCIENTIFIC READING
Stable developmental difference, uneven skill profile, fluctuating access, and true acquired loss are different clinical constructs and should not share one regression label.
NEXT MEASUREMENT
Repeat short language and executive probes, adaptive measures, hearing and sleep review, seizure context, and comparable video or task samples across states.
PHENOTYPE VOCABULARY OBSERVED IN THE SOURCE CORPUS
Milestones & learning
- gross- and fine-motor milestones
- nonverbal or late-language periods
- continued gains, plateau, or uneven acquisition
- intellectual and adaptive testing
- school curriculum and support needs
Speech & language
- apraxia or motor-speech difficulty
- articulation
- receptive versus expressive language
- grammar and syntax
- auditory processing and response latency
Memory & access
- decoding versus comprehension
- working and delayed memory
- episodic, spatial, and procedural differences
- word-finding and retrieval
- state-dependent access, true loss, and recovery
SOURCE TYPES REVIEWED
- developmental testing
- speech reports
- school records
- longitudinal observation
The lane counts use the full 61-person matrix. The detailed vocabulary is the union of all mapped case material, including the 15 age-ordered deep packets; it was not assessed uniformly and is not a feature-frequency table.
LANE 04 / 15Neurophysiology
Seizure / EEG / spells
What is electrographic, what is observed, and what remains unresolved?
Seizure diagnoses, EEG architecture, background organization, sleep captured, non-epileptiform spells, event awareness, recovery, and cardiac channel context.
Primary chapter · Neurology & seizures →61people, counted once
35 + 26mapped + unreported = 61
13mapped cells with formal evidence
16positive only
8positive + negative / unresolved
6negative only
5unresolved, no positive
26unreported
These five displayed states are mutually exclusive and total 61. The qualified-positive state combines positive content with an explicit-negative subfeature or unresolved candidate; the unresolved-without-positive state may also contain an explicit-negative subfeature.
CURRENT SIGNAL
The lane contains established electroclinical seizures, abnormal EEG background without an epileptiform event, captured nonepileptic movements, and unresolved spells.
SCIENTIFIC READING
Event phenotype, EEG background, captured electrographic correlate, sleep state, and cardiorespiratory physiology answer different questions.
NEXT MEASUREMENT
Define the representative event, capture sleep and the event when indicated, document recovery, and align EEG with video, ECG, oxygenation, or other physiology supported by the phenotype.
PHENOTYPE VOCABULARY OBSERVED IN THE SOURCE CORPUS
Seizure phenotypes
- absence or brief generalized seizures
- generalized tonic-clonic or convulsive events
- focal or multifocal events
- spasms
- neonatal or infant events
EEG architecture
- background slowing or disorganization
- posterior dominant rhythm
- interictal generalized, focal, or multifocal discharges
- sleep-stage acquisition
- activation and photic response
Spells & controls
- staring or shutdown-like events
- nocturnal or awakening-linked events
- typical movements captured without EEG correlate
- cardiac, oxygenation, or autonomic overlap
- post-event confusion, sleep, weakness, or recovery
SOURCE TYPES REVIEWED
- raw or formal EEG
- neurology notes
- event video
- spell timeline
The lane counts use the full 61-person matrix. The detailed vocabulary is the union of all mapped case material, including the 15 age-ordered deep packets; it was not assessed uniformly and is not a feature-frequency table.
LANE 05 / 15State regulation
Sleep / state / fatigue
Can the nervous system enter, sustain, and exit physiological states reliably?
Sleep onset and architecture, awakening, daytime fatigue, state-dependent access, recovery windows, paradoxical alerting, and within-day variability.
Primary chapter · Sleep & state →61people, counted once
34 + 27mapped + unreported = 61
7mapped cells with formal evidence
29positive only
5positive + negative / unresolved
0negative only
0unresolved, no positive
27unreported
These five displayed states are mutually exclusive and total 61. The qualified-positive state combines positive content with an explicit-negative subfeature or unresolved candidate; the unresolved-without-positive state may also contain an explicit-negative subfeature.
CURRENT SIGNAL
The record includes fragmented or short sleep, awakening-linked change, failed sleep staging in one study, normal staged sleep in another, and airway or sleep-deprivation burden.
SCIENTIFIC READING
Sleep duration, architecture, airway, nocturnal events, circadian state, medication, and daytime access must be separated.
NEXT MEASUREMENT
Pair sleep diary or actigraphy with iron and airway review, medication timing, event logs, and polysomnography or EEG when the clinical question supports it.
PHENOTYPE VOCABULARY OBSERVED IN THE SOURCE CORPUS
Sleep entry & maintenance
- long sleep latency
- night waking
- short or fragmented sleep
- heavy sleep and difficult awakening
- sleep talking, screaming, or unusual movements
Architecture & airway
- failed stage-II acquisition
- periodic limb movements
- snoring or mouth-open sleep
- obstructive or central events
- normal staged sleep as an explicit control
Daytime state
- fatigue and reduced endurance
- nap-related schedule change
- awakening-linked seizure or access change
- circadian and medication effects
- prolonged or paradoxical sedation
SOURCE TYPES REVIEWED
- sleep study
- EEG sleep data
- sleep logs
- medication chronology
The lane counts use the full 61-person matrix. The detailed vocabulary is the union of all mapped case material, including the 15 age-ordered deep packets; it was not assessed uniformly and is not a feature-frequency table.
LANE 06 / 15Oral-motor system
Oral / dental / chewing
Is oral function being reduced to a generic feeding label?
Chewing, swallowing, pocketing, gagging, dentition timing, oral pain signaling, mucosa, saliva, sensory response, brushing, and food-safety dependence.
Primary chapter · Oral function →61people, counted once
26 + 35mapped + unreported = 61
4mapped cells with formal evidence
24positive only
1positive + negative / unresolved
1negative only
0unresolved, no positive
35unreported
These five displayed states are mutually exclusive and total 61. The qualified-positive state combines positive content with an explicit-negative subfeature or unresolved candidate; the unresolved-without-positive state may also contain an explicit-negative subfeature.
CURRENT SIGNAL
Suck and latch, low intake, dysphagia, abnormal chewing, gagging, sensory gating, late eruption, oral pain, and mucosal intolerance appear as distinct patterns.
SCIENTIFIC READING
A generic feeding label can hide airway, oromotor, sensory, GI, dental, and pain mechanisms that require different assessment.
NEXT MEASUREMENT
Characterize oral motor function, swallowing safety, dentition and mucosa, sensory context, food texture, pain signaling, and nutrition separately.
PHENOTYPE VOCABULARY OBSERVED IN THE SOURCE CORPUS
Chewing & swallowing
- absent, delayed, or inefficient chewing
- pocketing or prolonged texture dependence
- gagging
- drooling or saliva pooling
- choking, dysphagia, thickened liquids, or aspiration concern
Dentition & structure
- very late or silent eruption
- painful teething
- retained primary teeth
- delayed permanent eruption or dental surgery
- palate, bite, tooth, toe, or nail morphology
Mucosa, pain & sensory calibration
- gum bleeding or oral ulceration
- tooth pain
- brushing intolerance
- mint, foam, fluoride, or temperature reactions
- oral seeking, biting, chewing objects, or reduced flavor warning
SOURCE TYPES REVIEWED
- feeding study
- dental record
- speech/OT note
- caregiver observation
The lane counts use the full 61-person matrix. The detailed vocabulary is the union of all mapped case material, including the 15 age-ordered deep packets; it was not assessed uniformly and is not a feature-frequency table.
LANE 07 / 15Internal regulation
GI / fuel / bowel
How do motility, intake, fuel defense, and bowel state interact with function?
Reflux, vomiting, diarrhea, constipation, motility, satiety, pica, intake shifts, ketosis or hypoglycemia, hydration, and behavior during bowel-state change.
Primary chapter · GI & fuel physiology →61people, counted once
34 + 27mapped + unreported = 61
3mapped cells with formal evidence
26positive only
6positive + negative / unresolved
1negative only
1unresolved, no positive
27unreported
These five displayed states are mutually exclusive and total 61. The qualified-positive state combines positive content with an explicit-negative subfeature or unresolved candidate; the unresolved-without-positive state may also contain an explicit-negative subfeature.
CURRENT SIGNAL
Retention, reflux, vomiting, food-state coupling, and constipation are recurrent; a smaller subset includes fasting, ketosis, hypoglycemia, or cyclic-vomiting signals.
SCIENTIFIC READING
Motility, intake, hydration, pain, metabolic defense, medication, and functional state should be aligned on the same timeline.
NEXT MEASUREMENT
Track stool pattern, intake, hydration, vomiting, weight, pain, relevant glucose or ketones, intervention, and recovery using the clinically indicated GI or metabolic workup.
PHENOTYPE VOCABULARY OBSERVED IN THE SOURCE CORPUS
Upper GI
- large spit-ups or reflux
- recurrent vomiting
- cyclic-vomiting patterns
- gagging or emesis linked to intake
- medication-, illness-, or constipation-linked worsening
Bowel & motility
- constipation and stool retention
- fecal impaction
- withholding and toilet-learning context
- overflow diarrhea or alternating stools
- pain, distension, and motility slowing
Fuel & intake
- hunger or satiety differences
- food refusal, visual or sensory gating, and pica
- fasting intolerance
- ketosis or hypoglycemia
- hydration, low intake, weight, and functional change
SOURCE TYPES REVIEWED
- GI notes
- imaging
- laboratory data
- stool and intake logs
The lane counts use the full 61-person matrix. The detailed vocabulary is the union of all mapped case material, including the 15 age-ordered deep packets; it was not assessed uniformly and is not a feature-frequency table.
LANE 08 / 15Pressure and clearance
ENT / hearing / airway
Are drainage, pressure, secretion, or airway burdens changing state?
Otitis, mastoid and sinus findings, hearing thresholds, tinnitus, adenoids, tonsils, airway, breathing during sleep, and discordance between imaging and symptoms.
Primary chapter · ENT, hearing & airway →61people, counted once
26 + 35mapped + unreported = 61
5mapped cells with formal evidence
18positive only
5positive + negative / unresolved
3negative only
0unresolved, no positive
35unreported
These five displayed states are mutually exclusive and total 61. The qualified-positive state combines positive content with an explicit-negative subfeature or unresolved candidate; the unresolved-without-positive state may also contain an explicit-negative subfeature.
CURRENT SIGNAL
Symptoms, imaging, audiology, middle-ear disease, and sleep-airway burden do not always align in the current records.
SCIENTIFIC READING
Radiographic sinus or mastoid signal, hearing function, secretion clearance, pressure, and sleep-related obstruction are separate clinical variables.
NEXT MEASUREMENT
Align symptoms with ENT examination, audiology, tympanometry, airway and sleep assessment, imaging context, treatment, and recovery.
PHENOTYPE VOCABULARY OBSERVED IN THE SOURCE CORPUS
Ear & hearing
- recurrent otitis
- thick middle-ear fluid
- mastoid effusion
- tubes or myringotomy
- hearing loss, tinnitus, muffled hearing, ABR, or reassuring audiology
Sinus & nasal airway
- sinus disease or congestion
- chronic rhinorrhea
- adenoid or tonsil hypertrophy
- deviated septum or obstruction
- local treatment and operative response
Sleep-airway interface
- mouth-open sleep
- snoring
- witnessed pauses
- airway-linked fatigue or state change
- snoring without obstructive sleep apnea as an explicit control
SOURCE TYPES REVIEWED
- ENT exam
- audiology
- MRI/CT
- operative note
The lane counts use the full 61-person matrix. The detailed vocabulary is the union of all mapped case material, including the 15 age-ordered deep packets; it was not assessed uniformly and is not a feature-frequency table.
LANE 09 / 15Sensorimotor output
Motor / tone / gait / vision
What changes across baseline, fatigue, illness, pain, and recovery?
Hypotonia or hypertonia, gait, balance, coordination, laterality, pain, weakness, movement spells, ocular motor findings, and functional mobility.
Primary chapter · Movement, gait & tics →61people, counted once
39 + 22mapped + unreported = 61
7mapped cells with formal evidence
31positive only
8positive + negative / unresolved
0negative only
0unresolved, no positive
22unreported
These five displayed states are mutually exclusive and total 61. The qualified-positive state combines positive content with an explicit-negative subfeature or unresolved candidate; the unresolved-without-positive state may also contain an explicit-negative subfeature.
CURRENT SIGNAL
Hypotonia and coordination differences coexist with laterality, pain, foot and gait findings, acquired loss or recovery, state change, and one formal cerebellar PET hypometabolism result.
SCIENTIFIC READING
Static developmental motor difference, episodic change, pain-limited output, orthopedic burden, and acquired neurologic loss require different explanations.
NEXT MEASUREMENT
Use serial neurologic and musculoskeletal examinations, PT/OT measures, gait or task video, laterality, pain, vision, and recovery trajectory.
PHENOTYPE VOCABULARY OBSERVED IN THE SOURCE CORPUS
Tone, strength & coordination
- hypotonia
- hypertonia, stiffness, or mixed tone
- balance and coordination
- fine-motor and handwriting difficulty
- fatigue, weakness, or reduced endurance
Gait, laterality & feet
- toe walking
- clubfoot, flat-valgus feet, tibial varus, or toe webbing
- unilateral dragging, limping, or inward turning
- AFOs, supportive shoes, or ankle support
- side-specific loss and recovery
Pain, movement & vision
- blunted or heightened pain expression
- myalgias, fracture, tightness, or contracture
- tics, stereotypies, dystonic posturing, or myotonia-like spells
- temporary loss of mobility and rehabilitation
- strabismus, ocular-motor, or other vision findings
SOURCE TYPES REVIEWED
- neurologic exam
- PT/OT
- ophthalmology
- video chronology
The lane counts use the full 61-person matrix. The detailed vocabulary is the union of all mapped case material, including the 15 age-ordered deep packets; it was not assessed uniformly and is not a feature-frequency table.
LANE 10 / 15Contextual function
Behavior / sensory
Is behavior being interpreted without its physiological context?
Sensory seeking or avoidance, overload, shutdown, anxiety, regulation, transitions, pain response, interoception, and the context surrounding functional change.
Primary chapter · Development, access & behavior →61people, counted once
36 + 25mapped + unreported = 61
4mapped cells with formal evidence
35positive only
1positive + negative / unresolved
0negative only
0unresolved, no positive
25unreported
These five displayed states are mutually exclusive and total 61. The qualified-positive state combines positive content with an explicit-negative subfeature or unresolved candidate; the unresolved-without-positive state may also contain an explicit-negative subfeature.
CURRENT SIGNAL
Regulation, sensory response, anxiety, shutdown, overload, atypical pain signaling, and task demand are often documented alongside changes in physiology or access to communication.
SCIENTIFIC READING
Observable behavior is an output. Intent, psychiatric meaning, sensory function, communication mismatch, pain, and medical burden should not be assumed to be interchangeable.
NEXT MEASUREMENT
Describe the event first, then record antecedent physiology, communication access, environment, duration, support response, and recovery before assigning a label.
PHENOTYPE VOCABULARY OBSERVED IN THE SOURCE CORPUS
Sensory processing
- sound, touch, texture, temperature, or oral sensitivity
- sensory seeking and deep-pressure needs
- repetitive movement used for regulation
- low or amplified pain response
- interoceptive and body-state differences
Regulation & context
- overload, freezing, or shutdown
- anxiety, OCD-like rigidity, or mood symptoms
- transition and routine dependence
- environment- or task-specific performance
- communication mismatch and delayed response
Change over time
- head banging, aggression, or other behavior that improved
- new fear or sensory response
- illness-, sleep-, bowel-, pain-, or medication-linked change
- school versus home differences
- recovery, recurrence, and a new baseline
SOURCE TYPES REVIEWED
- structured history
- school records
- OT assessment
- context log
The lane counts use the full 61-person matrix. The detailed vocabulary is the union of all mapped case material, including the 15 age-ordered deep packets; it was not assessed uniformly and is not a feature-frequency table.
LANE 11 / 15Barrier and response
Immune / skin / mucosal
What is measurable—and what remains only temporally associated?
Infection history, vaccine response testing, mucosal findings, skin, wound healing, allergy, cytokines, inflammatory markers, and recovery after immune load.
Primary chapter · Immune, skin & mucosa →61people, counted once
25 + 36mapped + unreported = 61
6mapped cells with formal evidence
18positive only
7positive + negative / unresolved
0negative only
0unresolved, no positive
36unreported
These five displayed states are mutually exclusive and total 61. The qualified-positive state combines positive content with an explicit-negative subfeature or unresolved candidate; the unresolved-without-positive state may also contain an explicit-negative subfeature.
CURRENT SIGNAL
Recurrent infection and ENT burden, mucosal fragility, skin or healing observations, and selected laboratory findings are present but heterogeneous.
SCIENTIFIC READING
The current record supports standardized immune and barrier phenotyping; it does not establish a shared ASH1L immune disorder.
NEXT MEASUREMENT
Define infection type and frequency, barrier or mucosal phenotype, objective immune testing when indicated, treatment exposure, vaccine-response question, and recovery.
PHENOTYPE VOCABULARY OBSERVED IN THE SOURCE CORPUS
Infection & antibody response
- recurrent viral or bacterial illness
- ENT, skin, or HSV burden
- antibiotic exposure
- immunoglobulin and vaccine-antibody testing
- booster response and specialist interpretation
Inflammation & mucosa
- ESR and CRP
- cytokine or immune-panel outliers
- oral, ENT, GI, or urinary mucosal findings
- allergy or atopy
- normal markers retained as explicit controls
Skin, vascular & repair
- eczema, itching, flushing, or transparent skin
- bruising
- delayed wound healing or scarring
- vWF, factor VIII, endothelial, or hemostatic observations
- fracture and mobility context
SOURCE TYPES REVIEWED
- immunology record
- laboratory data
- infection timeline
- dermatology
The lane counts use the full 61-person matrix. The detailed vocabulary is the union of all mapped case material, including the 15 age-ordered deep packets; it was not assessed uniformly and is not a feature-frequency table.
LANE 12 / 15Whole-body regulation
Autonomic / cardiac / urinary / temperature
Do episodic outputs align across systems and time?
Heart rate and rhythm, syncope-like events, temperature, sweating, color change, urinary findings, hydration, exercise tolerance, and peri-event physiology.
Primary chapter · Cardiac & autonomic →61people, counted once
23 + 38mapped + unreported = 61
6mapped cells with formal evidence
14positive only
6positive + negative / unresolved
1negative only
2unresolved, no positive
38unreported
These five displayed states are mutually exclusive and total 61. The qualified-positive state combines positive content with an explicit-negative subfeature or unresolved candidate; the unresolved-without-positive state may also contain an explicit-negative subfeature.
CURRENT SIGNAL
Faint or breath-related events, temperature and sweating differences, urinary findings, rhythm concerns, formal ventricular ectopy, POTS, and negative rhythm studies during events all appear in the source set.
SCIENTIFIC READING
Symptoms alone cannot separate seizure, syncope, arrhythmia, autonomic change, breathing event, hydration, pain, or behavioral response.
NEXT MEASUREMENT
Capture event-level heart rate, rhythm, blood pressure, oxygenation, position, breathing, hydration, temperature, urinalysis context, awareness, and recovery as clinically indicated.
PHENOTYPE VOCABULARY OBSERVED IN THE SOURCE CORPUS
Cardiac rhythm & structure
- ventricular ectopy
- supraventricular tachycardia
- bradycardia during a seizure-related emergency
- ECG or conduction findings
- ablation, echocardiography, and event monitoring
Autonomic & respiratory events
- syncope, drop, or orthostatic symptoms
- POTS or postural intolerance
- breath-holding, cyanosis, or desaturation
- sweating, flushing, cold extremities, or heat intolerance
- hydration, exertion, and recovery
Urinary & temperature
- recurrent UTI
- hematuria or proteinuria snapshots
- culture-positive and culture-negative episodes
- dark or reduced urine during illness or heat
- low-temperature episodes and later normal controls
SOURCE TYPES REVIEWED
- ECG/Holter
- cardiology
- vital-sign log
- urinalysis
The lane counts use the full 61-person matrix. The detailed vocabulary is the union of all mapped case material, including the 15 age-ordered deep packets; it was not assessed uniformly and is not a feature-frequency table.
LANE 13 / 15Developmental physiology
Growth / endocrine / puberty / bone
How does growth biology change across age and physiological transition?
Growth trajectory, IGF axis, thyroid and adrenal testing, puberty, menstrual effects, bone health, fractures, connective features, and nutritional context.
Primary chapter · Growth, endocrine & bone →61people, counted once
28 + 33mapped + unreported = 61
7mapped cells with formal evidence
25positive only
3positive + negative / unresolved
0negative only
0unresolved, no positive
33unreported
These five displayed states are mutually exclusive and total 61. The qualified-positive state combines positive content with an explicit-negative subfeature or unresolved candidate; the unresolved-without-positive state may also contain an explicit-negative subfeature.
CURRENT SIGNAL
Growth trajectory, low-for-age bone density or fracture, thyroid and other endocrine testing, and hormone or menstrual-state change are represented with substantial missingness.
SCIENTIFIC READING
Nutrition, mobility, antiseizure medication, puberty, co-findings, and ordinary endocrine or bone disease can confound a raw cross-case comparison.
NEXT MEASUREMENT
Use serial growth, nutrition and mobility context, puberty and cycle timing, relevant endocrine testing, medication exposure, fracture history, and DEXA when indicated.
PHENOTYPE VOCABULARY OBSERVED IN THE SOURCE CORPUS
Growth & nutrition
- failure to thrive
- height and weight trajectory
- macrocephaly or microcephaly
- diet texture and nutrient intake
- mobility and weight-bearing context
Endocrine & metabolic
- IGF-1 and growth-axis testing
- ACTH and cortisol
- thyroid and bone age
- lipid, liver, lactate, pyruvate, or carnitine observations
- vitamin D and mineral-bone context
Puberty, bone & connective tissue
- early puberty or adrenarche
- menstrual- or hormone-linked change
- contraceptive use for cycle control
- fracture, DEXA, and bone density
- hypermobility and connective-tissue co-findings
SOURCE TYPES REVIEWED
- growth chart
- endocrine labs
- bone imaging
- puberty timeline
The lane counts use the full 61-person matrix. The detailed vocabulary is the union of all mapped case material, including the 15 age-ordered deep packets; it was not assessed uniformly and is not a feature-frequency table.
LANE 14 / 15Perturbation response
Medication / anesthesia
What changed after exposure, for how long, and with what competing explanations?
Therapeutic response, paradoxical effects, sedation resistance or prolonged effect, anesthesia recovery, adverse events, dosing context, and return to baseline.
Primary chapter · Modifiers & state →61people, counted once
21 + 40mapped + unreported = 61
6mapped cells with formal evidence
20positive only
1positive + negative / unresolved
0negative only
0unresolved, no positive
40unreported
These five displayed states are mutually exclusive and total 61. The qualified-positive state combines positive content with an explicit-negative subfeature or unresolved candidate; the unresolved-without-positive state may also contain an explicit-negative subfeature.
CURRENT SIGNAL
Illness, poor sleep, bowel or fuel state, heat, puberty, medication, and anesthesia windows contain changes in both directions, including partial response and prolonged recovery.
SCIENTIFIC READING
Temporal association is a hypothesis-generating within-person signal. It is not automatically a treatment claim, adverse-effect claim, or ASH1L-specific mechanism.
NEXT MEASUREMENT
Use prospective time-locked N-of-1 structure: baseline, exposure or dose, concurrent load, domain-specific outcome, duration, recovery, recurrence, and counterexamples.
PHENOTYPE VOCABULARY OBSERVED IN THE SOURCE CORPUS
Therapeutic response
- antiseizure medication by event type
- VNS or device settings and partial response
- sleep and bowel treatments
- nutrition or metabolic treatment
- therapy and environmental supports
Adverse or paradoxical response
- stimulant-linked tic-like movement or sedation
- antibiotic-linked regulation change
- sedation resistance
- prolonged sleep or recovery
- post-procedure worsening
Minimum chronology
- agent and formulation
- dose and timing
- co-medications and concurrent illness
- domain-specific change
- duration, recovery, recurrence, and counterexamples
SOURCE TYPES REVIEWED
- MAR/anesthesia record
- procedure note
- dose timeline
- post-exposure observation
The lane counts use the full 61-person matrix. The detailed vocabulary is the union of all mapped case material, including the 15 age-ordered deep packets; it was not assessed uniformly and is not a feature-frequency table.
LANE 15 / 15Real-world trajectory
Function / school / adult
What can the person do—and when is access to that function reliable?
Adaptive function, learning supports, communication, safety, participation, adult transition, daily living, quality of life, and change across environments.
Primary chapter · Function, school & adult life →61people, counted once
36 + 25mapped + unreported = 61
2mapped cells with formal evidence
35positive only
1positive + negative / unresolved
0negative only
0unresolved, no positive
25unreported
These five displayed states are mutually exclusive and total 61. The qualified-positive state combines positive content with an explicit-negative subfeature or unresolved candidate; the unresolved-without-positive state may also contain an explicit-negative subfeature.
CURRENT SIGNAL
Communication support, school and therapy access, safety, adaptive daily living, adult transition, participation, and state-dependent capacity are documented unevenly across the lifespan.
SCIENTIFIC READING
Presence of a skill and reliable access to that skill are different outcomes. Environment, support, fatigue, pain, language load, and recovery can change the observable result.
NEXT MEASUREMENT
Repeat comparable adaptive and participation measures across settings, preserve support conditions, and track adult function, safety, quality of life, and change from the person’s own baseline.
PHENOTYPE VOCABULARY OBSERVED IN THE SOURCE CORPUS
Communication & learning
- AAC and communication supports
- IEP and modified curriculum
- speech, OT, PT, and specialized instruction
- processing time and visual structure
- music, repetition, and other successful learning supports
Adaptive function & safety
- daily living and self-care
- mobility and equipment
- school and community participation
- risk awareness and supervision
- function across home, clinic, and school
Transition & adult life
- adult education, work, and living supports
- health-care transition
- mental health and quality of life
- caregiver and family support needs
- preserved capacity versus reliable access
SOURCE TYPES REVIEWED
- IEP/education
- adaptive testing
- therapy goals
- adult function record
The lane counts use the full 61-person matrix. The detailed vocabulary is the union of all mapped case material, including the 15 age-ordered deep packets; it was not assessed uniformly and is not a feature-frequency table.