Phenotype #0000270398

Individual ID	00375188
Associated disease	?
Diagnosis/Initial	cerebellar atrophy, pigmentary retinopathy
Diagnosis/Definite	-
Phenotype details	birth 41w5d, Cesarean section due to abrupt placentae and non-reassuring fetal status, slight neonatal asphyxia (Apgar score 6/8), OFC 30.5 cm (−2.7 SD), weght 2860 g (−1.1 SD), height 50 cm (−0.1 SD); hypotonus, multiple arthrogryposis; severe growth impairment height <−2 SD, weight <−2 SD; intellectual disability; no perverted ocular movement; no seizure; muscle weakness; tremor; no dysmetry; walking disturbance; suspected pigmentary retinopathy (not clear), arthrogryposis; 7d-plasma CK 916 U/K, 2y2m-normal CK; MRI atrophy cerebellar vermis and hemispheres, pons, and tegmental area
Inheritance	Familial, autosomal recessive
Age/Examination	02y (2 years)
Age/Diagnosis	-
Age/Onset	00y00m01d
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-05-28 21:09:51 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD