Phenotype #0000237105

Individual ID	00311857
Associated disease	RRS
Phenotype details	height (-2.25 SD); no macrocephaly, broad forehead, no high forehead, midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, no wide nasal bridge, thin vermillion border, gingival hyperplasia, bilobed tongue, dental anomalies, low set ears; mesomelia; brachydactyly; clinodactyly; no camptodactyly; no broad thumb; broad 1st toe; genital hypoplasia; no renal anomalies; no cardiac anomalies
Diagnosis/Initial	Robinow syndrome
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	OMOD2
Age/Examination	15y (15 years)
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