Uveal coloboma - cleft lip and palate - intellectual deficit
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 22 |
| OrphanetNr: | 1473 |
| OMIM Id: |
120433
|
| ICD-10: |
Q12.2 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 12 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Orofacial clefting syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0000790) | Hematuria | Frequent [Orphanet] rare [HPO:skoehler] | 106 / 7739 | |||
|
|
(HPO:0000568) | Microphthalmia | rare [HPO:skoehler] | 183 / 7739 | |||
|
|
(HPO:0000204) | Cleft upper lip | rare [HPO:skoehler] | 193 / 7739 | |||
|
|
(HPO:0000175) | Cleft palate | rare [HPO:skoehler] | 349 / 7739 | |||
|
|
(HPO:0000202) | Oral cleft | Frequent [Orphanet] | 120 / 7739 | |||
|
|
(HPO:0000612) | Iris coloboma | Frequent [Orphanet] | 116 / 7739 | |||
|
|
(HPO:0000639) | Nystagmus | Occasional [Orphanet] | 555 / 7739 | |||
|
|
(HPO:0000541) | Retinal detachment | Occasional [Orphanet] | 87 / 7739 | |||
|
|
(HPO:0000486) | Strabismus | Occasional [Orphanet] | 576 / 7739 | |||
|
|
(HPO:0000501) | Glaucoma | Occasional [Orphanet] | 180 / 7739 | |||
|
|
(HPO:0000481) | Abnormality of the cornea | Occasional [Orphanet] | 124 / 7739 | |||
|
|
(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Frequent [Orphanet] | 142 / 7739 | |||
|
|
(HPO:0000627) | Posterior embryotoxon | Occasional [Orphanet] | 15 / 7739 | |||
|
|
(HPO:0000508) | Ptosis | Occasional [Orphanet] rare [HPO:skoehler] | 459 / 7739 | |||
|
|
(HPO:0000518) | Cataract | Occasional [Orphanet] rare [HPO:skoehler] | 454 / 7739 | |||
|
|
(HPO:0000479) | Abnormality of the retina | Very frequent [Orphanet] | 74 / 7739 | |||
|
|
(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
|
|
(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
|
|
(HPO:0001249) | Intellectual disability | rare [HPO:skoehler] | 1089 / 7739 | |||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(HPO:0012795) | Abnormality of the optic disc | Occasional [Orphanet] | 187 / 7739 | |||
|
|
(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|