Phenotype #0000257454

Individual ID 00362041
Associated disease ?
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Phenotype details intellectual disability; motor developmental delay; speech delay; ataxia; no seizures; normal tone; MRI brain cerebellar vermian hypoplasia; long face; deep philtrum; tall forehead; high nasal bridge; straight eyebrows; strabismus; small ear lobes; short and broad chin; thick vermillion of upper and lower lips; dysarthria, pectus excavatum, thin and scooped nails, orchiopexy for undescended testicles, very mild hypospadias, strabismus surgery, intoeing due to femoral anteversion, attention deficit disorder, gastroesophageal reflux, possible eosinophilic esophagitis
Inheritance Isolated (sporadic)
Age/Examination 16y6m (16 years, 6 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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