Phenotype #0000155397

Individual ID	00207586
Associated disease	MRT
Phenotype details	Four‐limb postaxial hexadactyly. Facial dysmorphic features (broad nasal bridge and tip, short philtrum, thin upper lip, abnormal ears, spare scalp hairs), severe microcephaly of prenatal onset and overlapping toes. She also suffered of constipation, gastro‐oesophageal reflux, feeding problems and eczema in relation to a cow's milk protein allergy. Motor skills delay, severe developmental and speech delay. Serum ALP level was normal.
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Philippe Campeau
Database submission license
Created by	Philippe Campeau
Date created	2018-11-25 18:40:13 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD