Phenotype #0000257451

Individual ID 00362038
Associated disease ?
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Phenotype details intellectual disability; motor developmental delay; speech delay; ataxia; seizures; normal tone; MRI brain normal; long face; deep philtrum; tall forehead; high nasal bridge; straight eyebrows; strabismus; low set ears, posteriorly rotated ears, small ear lobes; short and broad chin; thick vermillion of upper and lower lips
Inheritance Familial, autosomal dominant
Age/Examination 9y3m (9 years, 3 months)
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 2021-04-15 11:18:09 +02:00 (CEST)
Date last edited N/A

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