Phenotype #0000331102

Individual ID 00441677
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., microcephaly; global developmental delay; 16m-sit; not waking; language severely delayed; profound intellectual disability; myoclonic/partial seizures; no peripheral neuropathy; ataxia; upslanting palpebral fissures, hypertelorism, arachnodactyly, pectus excavatum; tone increased; normal power; sensation normal; ataxic gait; reflexes increased; stereotypies
Inheritance Isolated (sporadic)
Age/Examination 13y (13 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2023-11-09 12:18:41 +01:00 (CET)
Date last edited N/A

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