Microcephaly - glomerulonephritis - marfanoid habitus
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 20 |
| OrphanetNr: | 2172 |
| OMIM Id: |
248760
|
| ICD-10: |
Q87.8 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [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 Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0000083) | Renal insufficiency | Very frequent [Orphanet] | 232 / 7739 | |||
|
|
(HPO:0100820) | Glomerulopathy | Very frequent [Orphanet] | 46 / 7739 | |||
|
|
(HPO:0000099) | Glomerulonephritis | 13 / 7739 | ||||
|
|
(HPO:0000218) | High palate | 356 / 7739 | ||||
|
|
(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
|
|
(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
|
|
(HPO:0000303) | Mandibular prognathia | Very frequent [Orphanet] | 179 / 7739 | |||
|
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
|
(HPO:0011302) | Long palm | Very frequent [Orphanet] | 70 / 7739 | |||
|
|
(HPO:0001388) | Joint laxity | 117 / 7739 | ||||
|
|
(HPO:0001166) | Arachnodactyly | 62 / 7739 | ||||
|
|
(HPO:0001382) | Joint hypermobility | Very frequent [Orphanet] | 231 / 7739 | |||
|
|
(HPO:0002808) | Kyphosis | Frequent [Orphanet] | 289 / 7739 | |||
|
|
(HPO:0001519) | Disproportionate tall stature | Very frequent [Orphanet] | 39 / 7739 | |||
|
|
(HPO:0000098) | Tall stature | Very frequent [Orphanet] | 74 / 7739 | |||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(OMIM) | Dorsal kyphosis | 1 / 7739 | ||||
|
|
(HPO:0002119) | Ventriculomegaly | Very frequent [Orphanet] | 253 / 7739 | |||
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
|
|
(OMIM) | Prominent fourth ventricles by CT scan | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|