X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
ORPHA:423479DiseaseX-linked recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)35
Очень частый (80–99%)1
HP:0002187Intellectual disability, profound
Частый (30–79%)27
HP:0008058Aplasia/Hypoplasia of the optic nerve
HP:0008936Axial hypotonia
HP:0011471Gastrostomy tube feeding in infancy
HP:0012448Delayed myelination
HP:0012736Profound global developmental delay
HP:0030211Slow pupillary light response
HP:0000268Dolichocephaly
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000407Sensorineural hearing impairment
HP:0000430Underdeveloped nasal alae
HP:0000490Deeply set eye
HP:0000543Optic disc pallor
HP:0000556Retinal dystrophy
HP:0000577Exotropia
HP:0000873Diabetes insipidus
HP:0001116Macular coloboma
HP:0001285Spastic tetraparesis
HP:0001511Intrauterine growth retardation
HP:0001525Severe failure to thrive
HP:0002069Bilateral tonic-clonic seizure
HP:0002079Hypoplasia of the corpus callosum
HP:0002509Limb hypertonia
HP:0004322Short stature
HP:0004639Elevated amniotic fluid alpha-fetoprotein
HP:0006801Hyperactive deep tendon reflexes
HP:0007965Undetectable visual evoked potentials
Периодический (5–29%)6
HP:0002169Clonus
HP:0003487Babinski sign
HP:0006579Prolonged neonatal jaundice
HP:0010536Central sleep apnea
HP:00309215-minute APGAR score of 1
HP:00309271-minute APGAR score of 0
Исключён (0%)1
HP:0011903HbH hemoglobin
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)