Phenotype #0000235367
| Individual ID |
00310052 |
| Associated disease |
neuropathy, optic |
| Phenotype details |
Neurodevelopmental delay (HP:0012758); Muscular hypotonia (HP:0001252); Ataxia (HP:0001251); Dehydration (HP:0001944); Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373); Hyperinsulinemia (HP:0000842); Protein-losing enteropathy (HP:0002243); Blindness (HP:0000618); Abnormal aggressive, impulsive or violent behavior (HP:0006919); Hallucinations (HP:0000738); Depressivity (HP:0000716); Delayed puberty (HP:0000823); Carious teeth (HP:0000670); Deep venous thrombosis (HP:0002625); Menorrhagia (HP:0000132); Cholelithiasis (HP:0001081); Optic atrophy (HP:0000648); Abnormality of optic chiasm morphology (HP:0025163); Corpus callosum atrophy (HP:0007371); Pituitary gland cyst (HP:0410278); Deeply set eye (HP:0000490); Malar flattening (HP:0000272); Inverted nipples (HP:0003186); Finger clinodactyly (HP:0040019); Pes planus (HP:0001763); Brisk reflexes (HP:0001348); Failure to thrive (HP:0001508); Caesarian section (HP:0011410); Poor suck (HP:0002033); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); |
| Diagnosis/Initial |
Congenital Disorder Of Glycosylation, Type I/iix OMIM:212067 |
| Diagnosis/Definite |
- |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
31y (31 years) |
| Age/Diagnosis |
- |
| Age/Onset |
<00y00m28d |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Benjamin Billiet |
| Database submission license |
No license selected |
| Created by |
Benjamin Billiet |
| Date created |
2020-09-08 15:18:42 +02:00 (CEST) |
| Date last edited |
2021-05-07 17:47:03 +02:00 (CEST) |
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