Global Variome shared LOVD

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

Phenotype #0000309997 Individual ID 00418698 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details speech delay; motor delay; no intellectual disability; no autism spectrum disorder; no behavioral problems; facial dysmorphism; no genitourinary anomalies; history of growth hormone resistance and IGF1 deficiency (basis unknown), fasting and heat intolerance, excessive fatigue Inheritance Familial, X-linked recessive Age/Examination - 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 2022-10-04 17:07:48 +02:00 (CEST) Date last edited N/A

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