Global Variome shared LOVD

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Phenotype #0000321933 Individual ID 00431333 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDHFS Phenotype details see paper; ..., global development delay; 8m-sit,308m-walk; 30 months babbling, no speech; normal behavior; neurologic features; hypotonia; no muscle weakness; seizures; no pyramidal signs; ataxia; unremarkable; prominent ears; normal eyes; no high arched narrow palate; normal nose; no thin upper lip; no pointy chin; normal teeth; skin abnormalities; dry skin, eczema; normal hair growth; exotropia; no hypermetropia; normal vision; gastro-intestinal abnormalities; some feeding difficulties; early obesity; abnormalities extremities; hypermobility; deep palmar creases Inheritance Familial, autosomal recessive Age/Examination 30m Age/Diagnosis - 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 2023-02-08 20:43:15 +01:00 (CET) Date last edited N/A

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