Global Variome shared LOVD

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Phenotype #0000017591 Individual ID 00019859 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Unknown Phenotype details Severe ID with epilepsy. No speech. Short stature, microcephaly and enlarged ventricles and hypertrophy of the cerebellar vermis. Hypotonia, cleft palate, cataract, scoliosis and stereotypic movements. Dysmorphic features included a low frontal-temporal hairline, deep-set eyes, a flat midface, long narrow ears, a long nose with a high bridge, a short philtrum, an everted lower lip and a prominent jaw. In addition, she had scoliosis, short narrow hands, tapered fingers and several contractures. 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 2014-09-08 09:46:23 +02:00 (CEST) Date last edited 2014-11-08 16:03:37 +01:00 (CET)

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