Phenotype #0000174462

Individual ID	00234040
Associated disease	WRWF
Phenotype details	dwarfism (HP:0001516) (2); long (flat) philtrum (HP:0000299) (2); oral motor dysfunction (HP:0005216) (1); low-set ears (HP:0000369) (2); ptosis (HP:0001488) (3); upturned nares (HP:0000463) (2); high-arched palate (HP:0000218) (2); carp-shaped mouth (HP:0010806) (2); drooling (HP:0002307) (3); short neck (with limited rotation) (HP:0000470) (2); neonatal respiratory distress (HP:0002643) (3); humeroscapular mobility restriction (HP:0006467) (2); narrow shoulders or thorax (HP:0006664) (3); poor feeding (HP:0002022) (4); kyphosis, lordosis or scoliosis (HP:0002751) (3); congenital hip dislocations or hip flexion contractures (HP:0001374) (4); flexion contractures of elbows or knees (HP:0002987, HP:0002978) (3); proximally placed thumbs (HP:0009623) (2); camptodactyly (HP:0001215) (5); ulnar deviation finger (HP:0009465) (3); proximally placed toes (HP:0001780) (4); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (5); high anterior hairline (HP:0000294) (2); distal muscle weakness (HP:0002460) (2); edema or fat pads (hands and/or feet) (HP:0007514) (3); retardation of motor development (HP:0001263) (5); intellectual disability (HP:0001249) (5); spasticity (HP:0001257) (5); seizures (HP:0001250) (4); MRI delayed myelination (HP:0002188) (2); MRI diffuse cerebral atrophy (HP:0002283) (3)
Diagnosis/Initial	arthrogryposis multiplex congenita, intellectual disability
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	WRWF
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-05-04 10:03:34 +02:00 (CEST)
Date last edited	N/A