Phenotype #0000227563

Individual ID	00300262
Associated disease	SRTD
Diagnosis/Initial	short rib polydactyly syndrome
Diagnosis/Definite	SRTD7
Phenotype details	22w-delivery; scalp edema, low set ears; hypertelorism; thin upper lip and micrognathia; narrow and barrel shaped chest, short and bent ribs, handlebar clavicles; micromelia with bowing of the radii and ulnae; abnormal ilia with abnormal absent sciatic notch and unformed acetabular roof; micromelia; postaxial polydactyly in the hands and feet, and aphalangia in the hands
Inheritance	Familial, autosomal recessive
Age/Examination	<0d
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-25 19:30:00 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD