Phenotype #0000236347
| Individual ID |
00311091 |
| Associated disease |
neuropathy, optic |
| Phenotype details |
Feeding difficulties in infancy (HP:0008872); Gastrostomy tube feeding in infancy (HP:0011471); Gastroesophageal reflux (HP:0002020); Muscular hypotonia (HP:0001252); Ureteropelvic junction obstruction (HP:0000074); Strabismus (HP:0000486); Amblyopia (HP:0000646); Optic atrophy (HP:0000648); Cerebral visual impairment (HP:0100704); Mild conductive hearing impairment (HP:0008598); Global developmental delay (HP:0001263); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Gait disturbance (HP:0001288); Impaired tandem gait (HP:0031629); Delayed fine motor development (HP:0010862); Attention deficit hyperactivity disorder (HP:0007018); Epicanthus (HP:0000286); Thin upper lip vermilion (HP:0000219); Smooth philtrum (HP:0000319); Micrognathia (HP:0000347); Flared nostrils (HP:0000454); Posteriorly rotated ears (HP:0000358); Pectus carinatum (HP:0000768); Abnormality of optic chiasm morphology (HP:0025163); Low hanging columella (HP:0009765) |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
08y03m (8 years, 3 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Benjamin Billiet |
| Database submission license |
No license selected |
| Created by |
Benjamin Billiet |
| Date created |
2020-09-17 10:50:25 +02:00 (CEST) |
| Date last edited |
2021-05-05 16:34:12 +02:00 (CEST) |
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