Phenotype #0000237131

Individual ID	00311883
Associated disease	OMOD
Phenotype details	see paper; ..., height <5th pecentile; short humeri; radial dislocation, limitation of movement; short ulnae; short first metacarpal; femoral anomalies, proximal; short fibulae; vertebral anomalies; round face; frontal bossing, prominent forehead; small nose with broad tip; long philtrum; flat nasal bridge; no cleft lip and cleft palate; no ypoplastic genitalia/other genital anomalies
Diagnosis/Initial	omodysplasia
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	OMOD2
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-09-29 21:25:06 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD