Phenotype #0000143918

Individual ID	00183164
Associated disease	MRX;IDX
Phenotype details	dwarfism (HP:0001516) (1); oral motor dysfunction (HP:0005216) (2); low-set ears (HP:0000369) (1); ptosis (HP:0001488) (1); broad alveolar ridges (HP:0000187) (2); high-arched palate (HP:0000218) (2); carp-shaped mouth (HP:0010806) (2); drooling (HP:0002307) (2); short neck (with limited rotation) (HP:0000470) (1); narrow shoulders or thorax (HP:0006664) (1); poor feeding (HP:0002022) (1); short limbs (HP:0009826) (1); flexion contractures of elbows or knees (HP:0002987, HP:0002978) (1); distal muscle weakness (HP:0002460) (2); ( (; retardation of motor development (HP:0001263) (2); intellectual disability (HP:0001249) (2); spasticity (HP:0001257) (1); seizures (HP:0001250) (2); MRI diffuse cerebral atrophy (HP:0002283) (1)
Diagnosis/Initial	intellectual disability, arthrogryposis multiplex congenita
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	WRWF
Age/Examination	08y-28y
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Birth_Details	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-10-14 12:07:53 +02:00 (CEST)
Date last edited	2019-05-27 12:43:41 +02:00 (CEST)

Global Variome shared LOVD