Phenotype #0000155310

Individual ID 00207532
Associated disease epilepsy
Phenotype details Infantile spasms, myoclonic seizures, cortical visual impairment, developmental delay, and minor dysmorphic features (Anteverted nares, tented upper lip), pectus excavatum, and mild flexion contractures of all fingers bilaterally. Alkaline phosphatase levels ranged from normal to mildly elevated. No evidence of metabolic bone disease.
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 00y08m (8 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau
Date created 2018-11-23 19:53:58 +01:00 (CET)
Date last edited N/A

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