Kleefstra syndrome due to 9q34 microdeletion
General Information (adopted from Orphanet):
| Synonyms, Signs: |
9q subtelomeric deletion syndrome Kleefstra syndrome due to monosomy 9q34 9qSTDS Kleefstra syndrome due to 9q subtelomeric deletion Kleefstra syndrome due to del(9)(q34) |
| Number of Symptoms | 35 |
| OrphanetNr: | 96147 |
| OMIM Id: |
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| ICD-10: |
Q87.0 |
| 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: | No data available. |
| Inheritance: |
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| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Chromosomal anomaly with epilepsy as a major feature
-Rare neurologic disease Kleefstra syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease Partial monosomy of the long arm of chromosome 9 -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000076) | Vesicoureteral reflux | Occasional [Orphanet] | 94 / 7739 | |||
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(HPO:0000054) | Micropenis | Occasional [Orphanet] | 257 / 7739 | |||
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(HPO:0000035) | Abnormality of the testis | Frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000083) | Renal insufficiency | Occasional [Orphanet] | 232 / 7739 | |||
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(HPO:0000232) | Everted lower lip vermilion | Very frequent [Orphanet] | 90 / 7739 | |||
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(HPO:0000252) | Microcephaly | Frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000664) | Synophrys | Frequent [Orphanet] | 112 / 7739 | |||
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(HPO:0003196) | Short nose | Very frequent [Orphanet] | 264 / 7739 | |||
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(HPO:0000158) | Macroglossia | Frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0000463) | Anteverted nares | Very frequent [Orphanet] | 305 / 7739 | |||
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(HPO:0002714) | Downturned corners of mouth | Frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0002553) | Highly arched eyebrow | Very frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0011800) | Midface retrusion | Frequent [Orphanet] | 221 / 7739 | |||
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(HPO:0000248) | Brachycephaly | Very frequent [Orphanet] | 222 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Occasional [Orphanet] | 539 / 7739 | |||
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(HPO:0100851) | Abnormal emotion/affect behavior | Occasional [Orphanet] | 85 / 7739 | |||
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(HPO:0002360) | Sleep disturbance | Occasional [Orphanet] | 113 / 7739 | |||
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(HPO:0000717) | Autism | Occasional [Orphanet] | 108 / 7739 | |||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0004299) | Hernia of the abdominal wall | Occasional [Orphanet] | 176 / 7739 | |||
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(HPO:0001537) | Umbilical hernia | Occasional [Orphanet] | 206 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Occasional [Orphanet] | 492 / 7739 | |||
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(HPO:0001513) | Obesity | Frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0001646) | Abnormality of the aortic valve | Occasional [Orphanet] | 55 / 7739 | |||
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(HPO:0001636) | Tetralogy of Fallot | Occasional [Orphanet] | 104 / 7739 | |||
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(HPO:0012303) | Abnormality of the aortic arch | Occasional [Orphanet] | 57 / 7739 | |||
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(HPO:0004760) | Congenital septal defect | Frequent [Orphanet] | 69 / 7739 | |||
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(HPO:0003220) | Abnormality of chromosome stability | Very frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Occasional [Orphanet] | 180 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0002120) | Cerebral cortical atrophy | Occasional [Orphanet] | 187 / 7739 | |||
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(HPO:0002119) | Ventriculomegaly | Occasional [Orphanet] | 253 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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