Phenotype #0000355631

Individual ID 00470735
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details see paper; ..., global psychomotor developmental delay; failure to thrive (NGT feeding); hypotonia; 22m-sit; 26m-noy walking, standing with supportr; no speech, babbling; intellectual disability; no autism spectrum disorder; behaviour normal; no epilepsy; MRI normal; frontal bossing; esotropia; 1 cafĂ©-au-lait patch, 1 slate grey nevus; no skeletal abnormalities; normal kidney; biilateral cryptorchidism
Age/Examination 33m
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2025-12-08 15:51:34 +01:00 (CET)
Date last edited N/A

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