Phenotype #0000356829

Individual ID	00472020
Associated disease	ID
Diagnosis/Initial	intelleellectual disabilityctual disability
Diagnosis/Definite	DIJOS
Inheritance	Familial, autosomal dominant
Phenotype details	see paper; ..., pregnancy breech presentation; developmental delay, learning problems; motor delay; language delay; height -2.5SD, OFC -0.2SD; normal behavior; no epilepsy; MRI brain normal; congenital hip dysplasia; no neonatal feeding difficulties; no eye abnormalities; no hearing loss; joint hypermobility; no scoliosis; short broad distal phalanges thumb, short 5th fingers; 14y-acute myeloid leukemia; congenital hypothyroidism; long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; prominent eyes, small alae nasi
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-01-05 20:42:40 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD