Global Variome shared LOVD

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Phenotype #0000017599 Individual ID 00019869 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Unknown Phenotype details neonatal feeding problems and hypotonia, severe ID, macrocephaly, large cysterna magna, hydrocephalus, myelination delay and wide sulci. Seizures, self-mutilation and sleep disturbances. Facial dysmorphisms included hypertelorism, broad coarse face, low-set ears, macrostomia and mild retromicrognathia. She had small hands and feet, contractures and scoliosis. Age/Examination ? Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Marianne Vos (LOVD-team) Database submission license No license selected Created by Marianne Vos (LOVD-team) Date created 2014-09-10 09:12:49 +02:00 (CEST) Date last edited 2014-11-08 16:08:37 +01:00 (CET)

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