Phenotype #0000304700

Individual ID	00412709
Associated disease	-
Phenotype details	weight (kg, standard deviation scores): 68.9 (+1.9); height (cm, standard deviation scores): 166.3 (+0.7); occipitofrontal circumference: 56.4 (+0.39); body mass index: 24.9 (+2.0); walking: 24m; speech delay: yes; intellectual disability: moderate; behavior: hyperactivity; magnetic resonance imaging: normal; retinitis pigmentosa; brachydactyly; other clinical findings: proximally placed thumbs, short fifth fingers, pes planus, frontal bossing, almond-shaped eyes, and inverted nipples
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	syndromic intellectual disability with retinitis pigmentosa
Age/Examination	13y8m (13 years, 8 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-03 11:35:57 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD