Phenotype #0000283602

Individual ID 00390063
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Severe intellectual disability, failure to thrive, microcephaly, spasticity, large prominent teeth, dysplastic ears, sparse eyebrows, high arched palate, short stature, frequent otitis media, dry skin, broad thumbs, sparse teeth, hypoplastic teeth
Inheritance Isolated (sporadic)
Age/Examination 27y (27 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2021-11-09 16:34:00 +01:00 (CET)
Date last edited N/A

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