Phenotype #0000236331
| Individual ID |
00311065 |
| Associated disease |
neuropathy, optic |
| Phenotype details |
Inspiratory stridor (HP:0005348); Apnea (HP:0002104); Choking episodes (HP:0030842); Feeding difficulties (HP:0011968); Motor delay (HP:0001270); Delayed ability to sit (HP:0025336); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Hypokinesia (HP:0002375); Bradykinesia (HP:0002067); Dystonia (HP:0001332); Muscular hypotonia of the trunk (HP:0008936); Deeply set eye (HP:0000490); Upslanted palpebral fissure (HP:0000582); Wide mouth (HP:0000154); Abnormality of the helix (HP:0011039); Protruding ear (HP:0000411); Large earlobe (HP:0009748); Finger joint hypermobility (HP:0006094); Clinodactyly of the 5th finger (HP:0004209); Long hallux (HP:0001847); Prominent veins on trunk (HP:0007457); Agenesis of corpus callosum (HP:0001274); Abnormality of optic chiasm morphology (HP:0025163); Delayed CNS myelination (HP:0002188); Reduced visual acuity (HP:0007663); Visual field defect (HP:0001123); Abnormality of ocular smooth pursuit (HP:0000617); Optic atrophy (HP:0000648); Abnormal cerebellum morphology (HP:0001317); |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Inheritance |
Familial, autosomal dominant |
| Age/Examination |
02y (2 years) |
| Age/Diagnosis |
- |
| Age/Onset |
? |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Benjamin Billiet |
| Database submission license |
No license selected |
| Created by |
Benjamin Billiet |
| Date created |
2020-09-15 10:56:35 +02:00 (CEST) |
| Date last edited |
2021-04-22 08:02:18 +02:00 (CEST) |
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