Global Variome shared LOVD

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

Phenotype #0000232896 Individual ID 00307078 Associated disease NDD Diagnosis/Initial neurodegeneration Diagnosis/Definite - Phenotype details birth height 50 cm (0 SD), weight 3,672 g (+0.5 SD), OFC 34.5 cm (+0.66 SD); height 105 cm (-2.23 SD), weight 17.4 kg (-1.26 SD), OFC 48.5 cm (-2.39 SD); developmental delay; intellectual disability; speech delay; aggressive, destructive, spitting, head banging; learning disorder; hypotonia; no epilepsy; no cardiac defect; broad thorax, pes planus; high forehead, medial thin and flaring of eyebrows, ptosis, slightly wide nasal bridge when younger, round nasal tip (upturned), posteriorly rotated ears, small teeth, fusion of two teeth, webbed/short neck; dry skin, mild eczema; no cryptorchidism; wet lung syndrome; recurrent infections ears; no lymphatic involvement; bleeding, easy bruising; no hearing problems; 1m-mild widening frontal peripheral liquor spaces; normal abdominal ultrasound Inheritance Familial, autosomal recessive Age/Examination 6y (6 years) 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 2020-07-30 09:03:17 +02:00 (CEST) Date last edited 2025-12-02 13:47:03 +01:00 (CET)

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