Phenotype #0000348085

Individual ID 00460357
Associated disease NDD
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Phenotype details see paper; ..., birth weight 1,400g (-4.69); height 168cm (-0.44), OFC 54cm (-0.74); 2y-walk; speech delay; delayed comprehension; no regression; moderate Intellectual disability; seizures; normal sleep; short, deep philtrum; mild bilateral hearing impairment; normal vision; hemophilia type VIII; simple incomplete syndactyly
Inheritance Familial, autosomal recessive
Age/Examination 16y (16 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 2025-01-24 19:20:35 +01:00 (CET)
Date last edited N/A

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