Global Variome shared LOVD

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Phenotype #0000239655 Individual ID 00315909 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite GAND Phenotype details birth 40w; birth weight 3431g, length 51cm; weight −2 SD, height −2.5 SD, OFC +1.5 SD; neonatal hypotonia; motor delay; 14m-sit; 3y6m-walk; speech delay; 3.5y-4y-first words; moderate intellectual deficiency; no behavioral problems; feeding difficulties; no sleep disorder; constipation; no deafness; vision disorder; strabismus; MRI brain abnormalities, no white matter signal, no myelination delay, ventriculomegaly enlarged CSF space; no macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; deeply set eyes; hypertelorism; no periorbital fullness; ear anomalies; large/prominent nose; no tubular shaped nose; wide nasal base; no short philtrum; broad mouth; downturned mouth; no thin upper lip; pointed chin; no blond hair; no hands/feet anomalies; no long fingers; no clinodactyly Inheritance Isolated (sporadic) Age/Examination 4y (4 years) Age/Diagnosis 2y8m 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 2020-10-30 10:06:36 +01:00 (CET) Date last edited N/A

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