Phenotype #0000350403

Individual ID	00464380
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRD50
Inheritance	Familial, autosomal dominant
Phenotype details	see paper; ..., (growth parameters); initial feeding difficulties; motor delay (HP:0001270),9m- rolled, 1y-sit, 1y-crawl, 2y-walk; mild intellectual disability (HP:0001256); autism spectrum disorders (HP:0000729), ADHD, depression, anxiety; delayed speech (HP:0000750), able to speak in sentences; childhood onset 'atypical absence' seizures, now weaned off medication and seizure-free; infantile period low mucle tone, ormal tone in adolescence; mild: long narrow head, mild retrognathia, malar hypoplasia, high narrow palate, broad single uvula; no cardiavacular anomalies; flexible joints but not clinically hypermobile (Beighton score 2/9). Increased carrying angle elbow; pes planus with hindfoot deformity;
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	2y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-03-08 17:44:25 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD