Global Variome shared LOVD

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Phenotype #0000054216 Individual ID 00074398 Associated disease MCPH Phenotype details Reduced head circumference (HP:0000252), reduced length (HP:?), low weight (HP:0004325), motor development delay (HP:0001270), loss of speech (HP:0002371) and cognition impairment (HP:0100543), severe muscle wasting (HP:0003202), hypertonia (HP:0001276), brisk deep tendon reflex (HP:0006801), prominent eyelashes (HP:0011231), thin vermilion of the lips (HP:0011339), poor dentition (HP:0000696), malformed teeth (HP:0006482), hypomyelination (HP:0003429), White-matter volume markedly diminished (HP:?), thin corpus callosum (HP:0002079), slightly thin brain stem (HP:0002365) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 10y03m (10 years, 3 months) Age/Diagnosis - Age/Onset 00y08m Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-06-27 11:58:03 +02:00 (CEST) Date last edited 2017-07-18 22:42:06 +02:00 (CEST)

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