{
  "title": "ASH1L guide to fifteen clinical areas",
  "sourceDate": "2026-07-24",
  "scope": "A shared structure for finding and recording information. It is not a prevalence model, severity scale, diagnostic checklist, or claim that observations share one mechanism.",
  "missingInformationRule": "Missing or blank means not reported or not yet established; it is never recoded as negative.",
  "clinicalAreas": [
    {
      "number": 1,
      "label": "Birth / feeding",
      "domain": "Life course",
      "primaryPage": "/phenotype/oral-gi#oral",
      "primaryPageLabel": "Oral, GI, ENT & growth",
      "keywords": [
        "birth",
        "pregnancy",
        "delivery",
        "neonatal",
        "newborn",
        "feeding",
        "latch",
        "suck",
        "reflux"
      ]
    },
    {
      "number": 2,
      "label": "Genetics",
      "domain": "Genetics & treatment response",
      "primaryPage": "/variants",
      "primaryPageLabel": "Variant landscape",
      "keywords": [
        "genetics",
        "genetic",
        "report",
        "variant",
        "transcript",
        "inheritance",
        "classification",
        "VUS",
        "CNV"
      ]
    },
    {
      "number": 3,
      "label": "Development / language",
      "domain": "Life course",
      "primaryPage": "/development",
      "primaryPageLabel": "Development & memory",
      "keywords": [
        "development",
        "language",
        "speech",
        "learning",
        "memory",
        "regression",
        "AAC",
        "communication"
      ]
    },
    {
      "number": 4,
      "label": "Seizure / EEG / spells",
      "domain": "Neurocognitive & state",
      "primaryPage": "/phenotype/neurology#seizure-types",
      "primaryPageLabel": "Neurology & seizures",
      "keywords": [
        "seizure",
        "seizures",
        "epilepsy",
        "EEG",
        "spell",
        "spells",
        "staring",
        "awareness",
        "events"
      ]
    },
    {
      "number": 5,
      "label": "Sleep / state / fatigue",
      "domain": "Neurocognitive & state",
      "primaryPage": "/phenotype/neurology#sleep",
      "primaryPageLabel": "Sleep & state",
      "keywords": [
        "sleep",
        "state",
        "fatigue",
        "insomnia",
        "apnea",
        "arousal",
        "awakening",
        "recovery"
      ]
    },
    {
      "number": 6,
      "label": "Oral / dental / chewing",
      "domain": "Body systems",
      "primaryPage": "/phenotype/oral-gi#oral",
      "primaryPageLabel": "Oral function",
      "keywords": [
        "oral",
        "dental",
        "teeth",
        "dentition",
        "chewing",
        "swallowing",
        "gagging",
        "mucosa"
      ]
    },
    {
      "number": 7,
      "label": "GI / fuel / bowel",
      "domain": "Body systems",
      "primaryPage": "/phenotype/oral-gi#gi",
      "primaryPageLabel": "GI, nutrition & hydration",
      "keywords": [
        "GI",
        "gastrointestinal",
        "fasting",
        "low intake",
        "bowel",
        "constipation",
        "stool",
        "reflux",
        "vomiting",
        "hydration",
        "nutrition"
      ]
    },
    {
      "number": 8,
      "label": "ENT / hearing / airway",
      "domain": "Body systems",
      "primaryPage": "/phenotype/oral-gi#ent",
      "primaryPageLabel": "ENT, hearing & airway",
      "keywords": [
        "ENT",
        "hearing",
        "ear",
        "airway",
        "tonsils",
        "adenoids",
        "sinus",
        "breathing",
        "voice"
      ]
    },
    {
      "number": 9,
      "label": "Motor / tone / gait / vision",
      "domain": "Neurocognitive & state",
      "primaryPage": "/phenotype/movement#movement-map",
      "primaryPageLabel": "Movement, gait & tics",
      "keywords": [
        "motor",
        "tone",
        "hypotonia",
        "hypertonia",
        "gait",
        "walking",
        "balance",
        "movement",
        "vision",
        "oculomotor",
        "vestibular"
      ]
    },
    {
      "number": 10,
      "label": "Behavior / sensory",
      "domain": "Neurocognitive & state",
      "primaryPage": "/phenotype/behavior",
      "primaryPageLabel": "Neurobehavioral & mental health",
      "keywords": [
        "behavior",
        "sensory",
        "regulation",
        "autism",
        "ADHD",
        "anxiety",
        "shutdown",
        "overload",
        "pain"
      ]
    },
    {
      "number": 11,
      "label": "Immune / skin / mucosal",
      "domain": "Body systems",
      "primaryPage": "/phenotype/immune",
      "primaryPageLabel": "Immune, skin & mucosa",
      "keywords": [
        "immune",
        "infection",
        "skin",
        "mucosal",
        "mucosa",
        "allergy",
        "wound",
        "healing",
        "inflammation"
      ]
    },
    {
      "number": 12,
      "label": "Autonomic / cardiac / urinary / temperature",
      "domain": "Body systems",
      "primaryPage": "/phenotype/cardio",
      "primaryPageLabel": "Cardiac & autonomic",
      "keywords": [
        "autonomic",
        "cardiac",
        "heart",
        "rhythm",
        "syncope",
        "fainting",
        "urinary",
        "bladder",
        "temperature",
        "sweating"
      ]
    },
    {
      "number": 13,
      "label": "Growth / endocrine / puberty / bone",
      "domain": "Body systems",
      "primaryPage": "/phenotype/oral-gi#growth",
      "primaryPageLabel": "Growth, endocrine & bone",
      "keywords": [
        "growth",
        "endocrine",
        "puberty",
        "menstruation",
        "hormone",
        "bone",
        "fracture",
        "DEXA",
        "height",
        "weight"
      ]
    },
    {
      "number": 14,
      "label": "Medication / anesthesia",
      "domain": "Genetics & treatment response",
      "primaryPage": "/natural-history/recovery-and-measurement#state-measurement",
      "primaryPageLabel": "State measurement",
      "keywords": [
        "medication",
        "medicine",
        "drug",
        "dose",
        "anesthesia",
        "sedation",
        "procedure",
        "reaction",
        "recovery"
      ]
    },
    {
      "number": 15,
      "label": "Function / school / adult",
      "domain": "Life course",
      "primaryPage": "/development#ability-access-state",
      "primaryPageLabel": "Function, school & adult life",
      "keywords": [
        "function",
        "school",
        "IEP",
        "therapy",
        "adaptive",
        "participation",
        "adult",
        "transition",
        "work",
        "daily living"
      ]
    }
  ]
}