Global Variome shared LOVD

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Phenotype #0000231369 Individual ID 00305520 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 35w, weight 2560 (normal); height 131.5 (-2 SD), weight 34 (normal), OFC 54.5 (normal); learning disabilities; developmental delay; motor delay (sitting at 12 months, walking at 20 months); speech delay; no dysarthria; no epilepsy; hypotonia (in infancy); no spasticity; no ataxia; attention deficit disorder; Frequent nightmares; facial abnormalities; no dysphagia/feeding difficulties; Ovoid shape of lumbar vertebrae; no hearing abnormalities; no vision abnormalities; Hypertrichosis; normal hands, normal feet; MRI-brain normal, no holoprosencephaly Inheritance Familial, autosomal dominant Age/Examination 11y4m (11 years, 4 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-28 10:52:31 +02:00 (CEST) Date last edited N/A

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