Phenotype #0000235504
| Individual ID |
00310201 |
| Associated disease |
neuropathy, optic |
| Phenotype details |
Hyperbilirubinemia (HP:0002904); Recurrent hand flapping (HP:0100023); Toe walking (HP:0040083); Delayed fine motor development (HP:0010862); Muscular hypotonia (HP:0001252); Autistic behavior (HP:0000729); Attention deficit hyperactivity disorder (HP:0007018); Specific learning disability (HP:0001328); EEG with central sharp waves (HP:0011293); Protruding ear (HP:0000411); Micrognathia (HP:0000347); Cupped ear (HP:0000378); Midface retrusion (HP:0011800); Depressed nasal tip (HP:0000437); Thick vermilion border (HP:0012471); Joint hypermobility (HP:0001382); Optic nerve hypoplasia (HP:0000609); Abnormal retinal morphology on macular OCT (HP:0030612); Reduced visual acuity (HP:0007663); Speech articulation difficulties (HP:0009088); Impaired executive functioning (HP:0033051); Impaired use of nonverbal behaviors (HP:0000758); Optic atrophy (HP:0000648) |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
30y (30 years) |
| Age/Diagnosis |
- |
| Age/Onset |
02y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Benjamin Billiet |
| Database submission license |
No license selected |
| Created by |
Benjamin Billiet |
| Date created |
2020-09-09 14:29:31 +02:00 (CEST) |
| Date last edited |
2021-05-07 17:47:34 +02:00 (CEST) |
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