Phenotype #0000301101

Individual ID 00408983
Associated disease PMRED
Phenotype details global developmental delay; intractable epilepsy; skull dysplasia - severe psychomotor delay, intractable seizures, bulbous nose, wide mouth and tongue, broad jaw with protuberant angles, short hands, short tapered fingers, and broad thumbs
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-29 17:32:37 +02:00 (CEST)
Date last edited N/A

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