Phenotype #0000036692

Individual ID	00049916
Associated disease	DBS;ADCL
Phenotype details	initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, adducted thumb, osteopenia, no Wormian bones, no brain anomalies, no cranial vessel tortuosity, autism?, brisk reflexes; dysmorphic face (HP:0001999)
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	04y (4 years)
Growth	retardation prenatal;retardation postnatal
Age/Diagnosis	-
Age/Onset	-
Skin/Wrinkling	skin premature
Phenotype/Onset	-
Hypermobility	joint
Hernia	no
Foot/Abnormality	club (talipes equinovarus)
Scoliosis	scoliosis
Head/Fontanel	closure delayed
Head/Size	microcephaly
Development	global
Abdominal/Symptoms	?
Hypotonia	generalized
Eye/Lens/Cataract	cataract
Protein	-
Eye/Movement	normal
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-09-15 21:07:02 +02:00 (CEST)
Date last edited	2025-02-03 11:01:56 +01:00 (CET)

Global Variome shared LOVD