Global Variome shared LOVD

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Phenotype #0000233350 Individual ID 00307927 Associated disease ID Diagnosis/Initial intellectual diability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., gevere global developmental delay; neonatal respiratory distress; dilatation of lateral ventricles; hypotonia; generalized muscle weakness; recurrent respiratory infections; abnormal facial shape; wide nasal bridge; upslanted palpebral fissures; coarse facial features; generalized hirsutism; low-set, posteriorly rotated ears; thick lower lip vermilion; high, narrow palate; hepatomegaly; myopia; rotatory nystagmus; areflexia; abnormal CNS myelination; cavum septum pellucidum; enlarged cisterna magna Age/Examination 2y4m (2 years, 4 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-08-23 12:07:39 +02:00 (CEST) Date last edited N/A

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