Phenotype #0000174470

Individual ID	00234048
Associated disease	WRWF
Phenotype details	dwarfism (HP:0001516) (1); long (flat) philtrum (HP:0000299) (1); oral motor dysfunction (HP:0005216) (1); low-set ears (HP:0000369) (1); ptosis (HP:0001488) (1); upturned nares (HP:0000463) (1); broad alveolar ridges (HP:0000187) (1); high-arched palate (HP:0000218) (1); carp-shaped mouth (HP:0010806) (1); drooling (HP:0002307) (1); short neck (with limited rotation) (HP:0000470) (1); neonatal respiratory distress (HP:0002643) (1); humeroscapular mobility restriction (HP:0006467) (1); narrow shoulders or thorax (HP:0006664) (1); poor feeding (HP:0002022) (1); kyphosis, lordosis or scoliosis (HP:0002751) (1); congenital hip dislocations or hip flexion contractures (HP:0001374) (1); short limbs (HP:0009826) (1); flexion contractures of elbows or knees (HP:0002987, HP:0002978) (1); proximally placed thumbs (HP:0009623) (1); camptodactyly (HP:0001215) (1); ulnar deviation finger (HP:0009465) (1); proximally placed toes (HP:0001780) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (1); high anterior hairline (HP:0000294) (1); distal muscle weakness (HP:0002460) (1); edema or fat pads (hands and/or feet) (HP:0007514) (1); retardation of motor development (HP:0001263) (1); intellectual disability (HP:0001249) (1); spasticity (HP:0001257) (1); seizures (HP:0001250) (1); MRI delayed myelination (HP:0002188) (1); MRI diffuse cerebral atrophy (HP:0002283) (1)
Diagnosis/Initial	arthrogryposis multiplex congenita, intellectual disability
Inheritance	Isolated (sporadic)
Diagnosis/Definite	WRWF
Age/Examination	03y10m (3 years, 10 months)
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