Phenotype #0000237107

Individual ID	00311859
Associated disease	RRS
Phenotype details	height (-3.5 SD); no macrocephaly, broad forehead, high forehead, no midface hypoplasia, no hypertelorism, long eyelashes, no prominent eyes, anteverted nares, no wide nasal bridge, no thin vermillion border, no bilobed tongue, no dental anomalies, low set ears; mesomelia, improved with age; no brachydactyly; no clinodactyly; no camptodactyly; no broad thumb; no broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies
Diagnosis/Initial	Robinow syndrome
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	OMOD2
Age/Examination	6y7m (6 years, 7 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