12q14 microdeletion syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Monosomy 12q14 Deletion 12q14 Osteopoikilosis - short stature - intellectual deficit Del(12)(q14) |
| Number of Symptoms | 32 |
| OrphanetNr: | 94063 |
| OMIM Id: |
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| ICD-10: |
Q93.5 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 4 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Partial deletion of the long arm of chromosome 12
-Rare developmental defect during embryogenesis -Rare genetic disease Primary bone dysplasia with increased bone density -Rare bone disease -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:
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(HPO:0100542) | Abnormal localization of kidney | Occasional [Orphanet] | 64 / 7739 | |||
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(HPO:0008678) | Renal hypoplasia/aplasia | Occasional [Orphanet] | 127 / 7739 | |||
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(HPO:0000574) | Thick eyebrow | Occasional [Orphanet] | 96 / 7739 | |||
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(HPO:0000426) | Prominent nasal bridge | Occasional [Orphanet] | 121 / 7739 | |||
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(HPO:0000233) | Thin vermilion border | Occasional [Orphanet] | 124 / 7739 | |||
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(HPO:0000325) | Triangular face | Occasional [Orphanet] | 91 / 7739 | |||
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(HPO:0009933) | Narrow naris | Occasional [Orphanet] | 16 / 7739 | |||
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(HPO:0000445) | Wide nose | Occasional [Orphanet] | 190 / 7739 | |||
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(HPO:0009804) | Reduced number of teeth | Occasional [Orphanet] | 137 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Occasional [Orphanet] | 394 / 7739 | |||
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(HPO:0002714) | Downturned corners of mouth | Occasional [Orphanet] | 98 / 7739 | |||
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(HPO:0000490) | Deeply set eye | Occasional [Orphanet] | 131 / 7739 | |||
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(HPO:0000664) | Synophrys | Occasional [Orphanet] | 112 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Occasional [Orphanet] | 366 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0001337) | Tremor | Frequent [Orphanet] | 200 / 7739 | |||
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(HPO:0000819) | Diabetes mellitus | Occasional [Orphanet] | 131 / 7739 | |||
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(HPO:0002650) | Scoliosis | Occasional [Orphanet] | 705 / 7739 | |||
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(HPO:0004209) | Clinodactyly of the 5th finger | Occasional [Orphanet] | 288 / 7739 | |||
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(HPO:0002652) | Skeletal dysplasia | Frequent [Orphanet] | 113 / 7739 | |||
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(HPO:0001743) | Abnormality of the spleen | Occasional [Orphanet] | 37 / 7739 | |||
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(HPO:0002566) | Intestinal malrotation | Occasional [Orphanet] | 89 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0001000) | Abnormality of skin pigmentation | Frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0001031) | Subcutaneous lipoma | Occasional [Orphanet] | 112 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Occasional [Orphanet] | 990 / 7739 | |||
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(HPO:0003202) | Skeletal muscle atrophy | Occasional [Orphanet] | 281 / 7739 | |||
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(HPO:0002308) | Arnold-Chiari malformation | Occasional [Orphanet] | 42 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0003396) | Syringomyelia | Occasional [Orphanet] | 16 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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