Phenotype #0000304702

Individual ID	00412711
Associated disease	-
Phenotype details	weight (kg, standard deviation scores): 25th centile; height (cm, standard deviation scores): 3rd centile; occipitofrontal circumference: not available; body mass index: not available; walking: 11m; speech delay: yes; intellectual disability: moderate; behavior: attention-deficit hyperactivity disorder; autism, and self-harm ; retinitis pigmentosa; brachydactyly: not available
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	syndromic intellectual disability with retinitis pigmentosa
Age/Examination	28y (28 years)
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