Microcephaly-albinism-digital anomalies
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MICROCEPHALY-ALBINISM-DIGITAL ANOMALIES SYNDROME Castro Gago-Pombo-Novo syndrome |
| Number of Symptoms | 9 |
| OrphanetNr: | 2513 |
| OMIM Id: |
203340
|
| ICD-10: |
|
| UMLs: |
C1859910 |
| MeSH: |
C537322 |
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases - PMID: 6660641 [IBIS] |
| Inheritance: |
Autosomal recessive - PMID: 6660641 [IBIS] |
| Age of onset: |
Neonatal Infancy - PMID: 6660641 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis |
Symptom Information:
|
|
(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 6660641 | IBIS | 394 / 7739 | |
|
|
(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 6660641 | IBIS | 832 / 7739 | |
|
|
(HPO:0001107) | Ocular albinism | Very frequent [Orphanet] | 6660641 | IBIS | 40 / 7739 | |
|
|
(HPO:0009882) | Short distal phalanx of finger | Very frequent [Orphanet] | 6660641 | IBIS | 125 / 7739 | |
|
|
(HPO:0011305) | Partial absence of toe | Very frequent [Orphanet] | 6660641 | IBIS | 18 / 7739 | |
|
|
(HPO:0001022) | Albinism | 6660641 | IBIS | 43 / 7739 | ||
|
|
(HPO:0001010) | Hypopigmentation of the skin | Very frequent [Orphanet] | 6660641 | IBIS | 46 / 7739 | |
|
|
(HPO:0001522) | Death in infancy | Very frequent [Orphanet] | 6660641 | IBIS | 275 / 7739 | |
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 6660641 | IBIS | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|