Phenotype #0000036688

Individual ID 00049909
Associated disease DBS;ADCL
Phenotype details initial diagnosis wrinkly skin syndrome (WSS); thin translucent skin, hip dislocation?, adducted thumb, no osteopenia, Wormian bones?, no brain anomalies, no cranial vessel tortuosity, autism?, no brisk reflexes; normal face
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 02y06m (2 years, 6 months)
Growth retardation prenatal;retardation postnatal
Age/Diagnosis -
Age/Onset -
Skin/Wrinkling skin premature
Phenotype/Onset -
Hypermobility joint
Hernia hernia
Foot/Abnormality no
Scoliosis no
Head/Fontanel no
Head/Size microcephaly
Development global
Abdominal/Symptoms no
Hypotonia generalized
Eye/Lens/Cataract no
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 20:35:55 +02:00 (CEST)
Date last edited 2025-02-03 11:02:42 +01:00 (CET)

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