Phenotype #0000036690

Individual ID 00049914
Associated disease DBS;ADCL
Phenotype details initial diagnosis De Barsy syndrome (DBS); thin translucent skin, no hip dislocation, no adducted thumb, no osteopenia, Wormian bones, no brain anomalies, cranial vessel tortuosity, autism, brisk reflexes, oramen magnum stenosis, shallow sella turcica; dysmorphic face (HP:0001999)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 02y (2 years)
Growth retardation prenatal
Age/Diagnosis -
Age/Onset -
Skin/Wrinkling skin premature
Phenotype/Onset -
Hypermobility joint
Hernia hernia
Foot/Abnormality no
Scoliosis no
Head/Fontanel closure delayed
Head/Size no
Development global
Abdominal/Symptoms problems
Hypotonia generalized
Eye/Lens/Cataract cataract
Protein -
Eye/Movement no strabismus
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 20:58:55 +02:00 (CEST)
Date last edited 2025-02-03 11:01:56 +01:00 (CET)

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