Phenotype #0000036689

Individual ID 00049913
Associated disease DBS;ADCL
Phenotype details initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, adducted thumb, osteopenia, Wormian bones, brain anomalies, no cranial vessel tortuosity, autism?, brisk reflexes, foramen magnum stenosis; dysmorphic face (HP:0001999)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 02y11m (2 years, 11 months)
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 closure delayed
Head/Size no
Development global
Abdominal/Symptoms problems
Hypotonia generalized
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 20:52:19 +02:00 (CEST)
Date last edited 2025-02-03 11:01:56 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.