Phenotype #0000236312
| Individual ID |
00311047 |
| Associated disease |
neuropathy, optic |
| Phenotype details |
Atrial septal defect (HP:0001631); Posteriorly rotated ears (HP:0000358); Epicanthus (HP:0000286); Wide nasal bridge (HP:0000431); Narrow palpebral fissure (HP:0045025); Retrognathia (HP:0000278); High palate (HP:0000218); Muscular hypotonia (HP:0001252); Poor suck (HP:0002033); Dysphagia (HP:0002015); Delayed ability to sit (HP:0025336); Delayed ability to walk (HP:0031936); Expressive language delay (HP:0002474); Blindness (HP:0000618); Coloboma (HP:0000589); Esotropia (HP:0000565); Hypermetropia (HP:0000540); Nystagmus (HP:0000639); Optic nerve hypoplasia (HP:0000609); Seizure (HP:0001250); Obsessive-compulsive behavior (HP:0000722); Stereotypical hand wringing (HP:0012171); Skin-picking (HP:0012166); Attention deficit hyperactivity disorder (HP:0007018); Morphological central nervous system abnormality (HP:0002011); Corpus callosum atrophy (HP:0007371); Corticospinal tract atrophy (HP:0007117); Hearing impairment (HP:0000365); Optic atrophy (HP:0000648) |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
12y (12 years) |
| Age/Diagnosis |
- |
| Age/Onset |
? |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Benjamin Billiet |
| Database submission license |
No license selected |
| Created by |
Benjamin Billiet |
| Date created |
2020-09-14 12:19:13 +02:00 (CEST) |
| Date last edited |
2021-05-08 11:37:21 +02:00 (CEST) |
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