Phenotype #0000350378

Individual ID 00464315
Associated disease ID
Diagnosis/Initial mental retardation
Diagnosis/Definite mental retardation
Inheritance Familial, autosomal recessive
Phenotype details Mental retardation, abnormal gait, prominent forehead, wide eye distance, rough skin, bulging abdomen, milky coffee spot on abdomen, knee valgus, obesity, dwarfism, hepatosplenomegaly, insulin resistance.
Age/Examination 08y06m (8 years, 6 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Xiaomei Luo
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Xiaomei Luo
Date created 2025-03-03 04:17:07 +01:00 (CET)
Date last edited 2025-03-24 14:48:08 +01:00 (CET)

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