Phenotype #0000024947

Individual ID	00027226
Associated disease	FMD1
Phenotype details	see paper; sutures affected sagittal bilambdoid, no broad prominent forehead/brow ridge, micro/retrognathia, camptodactyly/arthrogryposis, broad/flattened/spatulateterminal digits; deep set eyes, down-slanting palpebral fissures, disorganised eyebrows, broad philtrum, small mouth, thin upper lip, tongue tie, poor shoulder girdle muscle development, glenoid hypoplasia, hand syndactyly (2, 3), toe syndactyly (2, 3), developmental delay, urethral stenosis, feeding aversion, developed hip dysplasia, ...
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Stephen Robertson
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2015-01-03 10:12:15 +01:00 (CET)
Date last edited	2015-10-11 17:12:27 +02:00 (CEST)

Global Variome shared LOVD