Phenotype #0000036693

Individual ID 00049917
Associated disease DBS;ADCL
Phenotype details initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, adducted thumb, no osteopenia, no Wormian bones, brain anomalies?, no cranial vessel tortuosity, autism?, brisk reflexes?; dysmorphic face (HP:0001999)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 13y (13 years)
Growth retardation prenatal;retardation postnatal
Age/Diagnosis -
Age/Onset -
Skin/Wrinkling skin premature
Phenotype/Onset -
Hypermobility joint
Hernia hernia
Foot/Abnormality club (talipes equinovarus)
Scoliosis scoliosis
Head/Fontanel ?
Head/Size microcephaly
Development global
Abdominal/Symptoms ?
Hypotonia ?
Eye/Lens/Cataract cataract
Protein -
Eye/Movement normal
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-09-15 21:10:49 +02:00 (CEST)
Date last edited 2025-02-03 11:01:56 +01:00 (CET)

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