Phenotype #0000257460

Individual ID 00362047
Associated disease ?
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Phenotype details intellectual disability; motor developmental delay; speech delay; no seizures; truncal hypotonia; MRI brain cerebellar vermian hypoplasia; no long face; no deep philtrum; no tall forehead; no high nasal bridge; straight eyebrows; strabismus; low set ears; normal chin; thin lower lip; bilateral talipes equinovarus, phimosis, recurrent lower urinary-tract infections, constipation
Inheritance Isolated (sporadic)
Age/Examination 3y5m (3 years, 5 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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