Phenotype #0000237104

Individual ID	00311856
Associated disease	RRS
Phenotype details	height (-2.9 SD); relative, broad forehead, high forehead, midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, thin vermillion border, gingival hyperplasia, bilobed tongue, dental anomalies, low set ears; micromelia; brachydactyly; clinodactyly 5th fingers; camptodactyly 4th fingers; broad thumb; broad 1st toe; genital hypoplasia; no renal anomalies; no cardiac anomalies
Diagnosis/Initial	Robinow syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	OMOD2
Age/Examination	5y8m (5 years, 8 months)
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 15:19:08 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD