Phenotype #0000174464
| Individual ID |
00234042 |
| Associated disease |
WRWF |
| Phenotype details |
dwarfism (HP:0001516) (1); long (flat) philtrum (HP:0000299) (5); ptosis (HP:0001488) (1); upturned nares (HP:0000463) (5); broad alveolar ridges (HP:0000187) (5); high-arched palate (HP:0000218) (5); carp-shaped mouth (HP:0010806) (5); short neck (with limited rotation) (HP:0000470) (1); neonatal respiratory distress (HP:0002643) (5); humeroscapular mobility restriction (HP:0006467) (1); kyphosis, lordosis or scoliosis (HP:0002751) (1); congenital hip dislocations or hip flexion contractures (HP:0001374) (2); short limbs (HP:0009826) (2); flexion contractures of elbows or knees (HP:0002987, HP:0002978) (2); proximally placed thumbs (HP:0009623) (1); camptodactyly (HP:0001215) (2); ulnar deviation finger (HP:0009465) (1); proximally placed toes (HP:0001780) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (2); high anterior hairline (HP:0000294) (5); edema or fat pads (hands and/or feet) (HP:0007514) (1); retardation of motor development (HP:0001263) (1); intellectual disability (HP:0001249) (1); seizures (HP:0001250) (1); MRI delayed myelination (HP:0002188) (1) |
| 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 |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2019-05-04 10:03:34 +02:00 (CEST) |
| Date last edited |
N/A |
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