Phenotype #0000304704

Individual ID 00412713
Associated disease -
Phenotype details weight (kg, standard deviation scores): not available; height (cm, standard deviation scores): not available; occipitofrontal circumference: not available; body mass index: obese; walking: not available; speech delay: not available ; intellectual disability: yes; behavior: not available; magnetic resonance imaging: normal; retinitis pigmentosa; brachydactyly: not available
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite syndromic intellectual disability with retinitis pigmentosa
Age/Examination 17y (17 years)
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 2022-07-03 11:35:57 +02:00 (CEST)
Date last edited N/A

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