Global Variome shared LOVD

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Phenotype #0000274021 Individual ID 00380166 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite DEE59;NDPLHS Phenotype details Microcephaly, Abnormal location of ears, Posteriorly rotated ears, Strabismus, Abnormal conjugate eye movement, Stereotypy, Delayed speech and language development, Prominent superficial veins, Hypermelanotic macule, Prominent scalp veins, Ataxia, Hypotonia, Global developmental delay, Motor delay, Absent speech, Abnormal scalp morphology, Truncal ataxia, Neurological speech impairment, Apraxia, Language impairment, Temporal hypotrichosis, Flat occiput, Aplasia/Hypoplasia of the cerebrum, Infantile muscular hypotonia, Delayed fine motor development, Abnormality of the helix, Abnormal shape of the occiput, Darwin tubercle of helix, Congenital abnormal hair pattern, Mongolian blue spot, Stereotypical hand wringing, Neurodevelopmental delay, Hand apraxia, Decreased head circumference, Abnormality of head blood vessel Inheritance Unknown Age/Examination 01y (1 year) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-08-10 14:56:24 +02:00 (CEST) Date last edited 2021-08-11 11:47:47 +02:00 (CEST)

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