Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000119747 Individual ID 00147030 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite NDAGSCW Inheritance Isolated (sporadic) Phenotype details height 112 cm (-1.9 SD), weight 34.1 kg (+1.7 SD), OFC 52 cm (+0.6 SD); intellectual disability; no speech; 6y-walk; epilepsy; hypotonia (HP:0001252); no spasticity (-HP:0001257); no dystonia; no refraction abnormality; no strabismus; strabismus; tapering fingers; acanthotic skin, epidermal nevus in face, neck, trunk; short neck; obstructive sleep apnea; cryptorchidism Age/Examination 08y05m (8 years, 5 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-12-29 15:16:49 +01:00 (CET) Date last edited 2023-11-01 09:20:29 +01:00 (CET)

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