2q31.1 microdeletion syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Monosomy 2q31.1 Del(2)(q31.1) |
| Number of Symptoms | 64 |
| OrphanetNr: | 251014 |
| OMIM Id: |
|
| ICD-10: |
Q93.5 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Unknown Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Partial deletion of the long arm of chromosome 2
-Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000035) | Abnormality of the testis | Occasional [Orphanet] | 296 / 7739 | |||
|
|
(HPO:0011331) | Hemifacial atrophy | Occasional [Orphanet] | 79 / 7739 | |||
|
|
(HPO:0000277) | Abnormality of the mandible | Frequent [Orphanet] | 394 / 7739 | |||
|
|
(HPO:0000581) | Blepharophimosis | Frequent [Orphanet] | 197 / 7739 | |||
|
|
(HPO:0000286) | Epicanthus | Occasional [Orphanet] | 371 / 7739 | |||
|
|
(HPO:0000174) | Abnormality of the palate | Occasional [Orphanet] | 298 / 7739 | |||
|
|
(HPO:0000275) | Narrow face | Occasional [Orphanet] | 76 / 7739 | |||
|
|
(HPO:0000316) | Hypertelorism | Occasional [Orphanet] | 644 / 7739 | |||
|
|
(HPO:0000520) | Proptosis | Occasional [Orphanet] | 192 / 7739 | |||
|
|
(HPO:0000288) | Abnormality of the philtrum | Frequent [Orphanet] | 54 / 7739 | |||
|
|
(HPO:0000232) | Everted lower lip vermilion | Occasional [Orphanet] | 90 / 7739 | |||
|
|
(HPO:0000233) | Thin vermilion border | Occasional [Orphanet] | 124 / 7739 | |||
|
|
(HPO:0000294) | Low anterior hairline | Occasional [Orphanet] | 52 / 7739 | |||
|
|
(HPO:0000343) | Long philtrum | Frequent [Orphanet] | 262 / 7739 | |||
|
|
(HPO:0000252) | Microcephaly | Frequent [Orphanet] | 832 / 7739 | |||
|
|
(HPO:0002714) | Downturned corners of mouth | Frequent [Orphanet] | 98 / 7739 | |||
|
|
(HPO:0000494) | Downslanted palpebral fissures | Frequent [Orphanet] | 328 / 7739 | |||
|
|
(HPO:0000280) | Coarse facial features | Occasional [Orphanet] | 189 / 7739 | |||
|
|
(HPO:0000470) | Short neck | Frequent [Orphanet] | 345 / 7739 | |||
|
|
(HPO:0005105) | Abnormal nasal morphology | Frequent [Orphanet] | 114 / 7739 | |||
|
|
(HPO:0000243) | Trigonocephaly | Occasional [Orphanet] | 40 / 7739 | |||
|
|
(HPO:0005487) | Prominent metopic ridge | Frequent [Orphanet] | 28 / 7739 | |||
|
|
(HPO:0000664) | Synophrys | Occasional [Orphanet] | 112 / 7739 | |||
|
|
(HPO:0000612) | Iris coloboma | Occasional [Orphanet] | 116 / 7739 | |||
|
|
(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Occasional [Orphanet] | 142 / 7739 | |||
|
|
(HPO:0000588) | Optic nerve coloboma | Occasional [Orphanet] | 27 / 7739 | |||
|
|
(HPO:0000486) | Strabismus | Occasional [Orphanet] | 576 / 7739 | |||
|
|
(HPO:0000479) | Abnormality of the retina | Occasional [Orphanet] | 74 / 7739 | |||
|
|
(HPO:0000508) | Ptosis | Occasional [Orphanet] | 459 / 7739 | |||
|
|
(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
|
|
(HPO:0002167) | Neurological speech impairment | Frequent [Orphanet] | 308 / 7739 | |||
|
|
(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
|
|
(HPO:0000864) | Abnormality of the hypothalamus-pituitary axis | Occasional [Orphanet] | 23 / 7739 | |||
|
|
(HPO:0001163) | Abnormality of the metacarpal bones | Frequent [Orphanet] | 149 / 7739 | |||
|
|
(HPO:0002650) | Scoliosis | Occasional [Orphanet] | 705 / 7739 | |||
|
|
(HPO:0006101) | Finger syndactyly | Occasional [Orphanet] | 198 / 7739 | |||
|
|
(HPO:0003422) | Vertebral segmentation defect | Frequent [Orphanet] | 95 / 7739 | |||
|
|
(HPO:0009380) | Aplasia of the fingers | Occasional [Orphanet] | 51 / 7739 | |||
|
|
(HPO:0002992) | Abnormality of the tibia | Occasional [Orphanet] | 51 / 7739 | |||
|
|
(HPO:0004209) | Clinodactyly of the 5th finger | Frequent [Orphanet] | 288 / 7739 | |||
|
|
(HPO:0004279) | Short palm | Occasional [Orphanet] | 323 / 7739 | |||
|
|
(HPO:0002750) | Delayed skeletal maturation | Frequent [Orphanet] | 250 / 7739 | |||
|
|
(HPO:0100490) | Camptodactyly of finger | Frequent [Orphanet] | 212 / 7739 | |||
|
|
(HPO:0010760) | Absent toe | Occasional [Orphanet] | 15 / 7739 | |||
|
|
(HPO:0002991) | Abnormality of the fibula | Occasional [Orphanet] | 49 / 7739 | |||
|
|
(HPO:0011305) | Partial absence of toe | Frequent [Orphanet] | 18 / 7739 | |||
|
|
(HPO:0001182) | Tapered finger | Frequent [Orphanet] | 93 / 7739 | |||
|
|
(HPO:0002997) | Abnormality of the ulna | Occasional [Orphanet] | 75 / 7739 | |||
|
|
(HPO:0006494) | Aplasia/Hypoplasia involving bones of the feet | Occasional [Orphanet] | 69 / 7739 | |||
|
|
(HPO:0001770) | Toe syndactyly | Frequent [Orphanet] | 149 / 7739 | |||
|
|
(HPO:0010055) | Broad hallux | Frequent [Orphanet] | 56 / 7739 | |||
|
|
(HPO:0001852) | Sandal gap | Frequent [Orphanet] | 63 / 7739 | |||
|
|
(HPO:0002808) | Kyphosis | Occasional [Orphanet] | 289 / 7739 | |||
|
|
(HPO:0004299) | Hernia of the abdominal wall | Occasional [Orphanet] | 176 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
|
|
(HPO:0001800) | Hypoplastic toenails | Frequent [Orphanet] | 74 / 7739 | |||
|
|
(HPO:0001595) | Abnormality of the hair | Frequent [Orphanet] | 89 / 7739 | |||
|
|
(HPO:0001631) | Atria septal defect | Occasional [Orphanet] | 274 / 7739 | |||
|
|
(HPO:0001629) | Ventricular septal defect | Occasional [Orphanet] | 316 / 7739 | |||
|
|
(HPO:0003220) | Abnormality of chromosome stability | Very frequent [Orphanet] | 98 / 7739 | |||
|
|
(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
|
|
(HPO:0002120) | Cerebral cortical atrophy | Occasional [Orphanet] | 187 / 7739 | |||
|
|
(HPO:0002119) | Ventriculomegaly | Occasional [Orphanet] | 253 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|