Micro syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
WARBM Warburg micro syndrome |
| Number of Symptoms | 61 |
| OrphanetNr: | 2510 |
| OMIM Id: |
600118
614222 614225 |
| 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: | 8 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Other syndrome with lissencephaly as a major feature -Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Syndromic microphthalmia -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0003241) | External genital hypoplasia | 25 / 7739 | ||||
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0000035) | Abnormality of the testis | Very frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000072) | Hydroureter | Occasional [Orphanet] | 146 / 7739 | |||
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(HPO:0000054) | Micropenis | Frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0100542) | Abnormal localization of kidney | Occasional [Orphanet] | 64 / 7739 | |||
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(HPO:0003196) | Short nose | Very frequent [Orphanet] | 264 / 7739 | |||
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(HPO:0000431) | Wide nasal bridge | Very frequent [Orphanet] | 290 / 7739 | |||
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(HPO:0000322) | Short philtrum | Very frequent [Orphanet] | 130 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000568) | Microphthalmia | 183 / 7739 | ||||
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(HPO:0000463) | Anteverted nares | Very frequent [Orphanet] | 305 / 7739 | |||
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(HPO:0000490) | Deeply set eye | 131 / 7739 | ||||
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(HPO:0000519) | Congenital cataract | 73 / 7739 | ||||
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(HPO:0000510) | Rod-cone dystrophy | Frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0000649) | Abnormality of visual evoked potentials | Frequent [Orphanet] | 34 / 7739 | |||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(HPO:0000479) | Abnormality of the retina | Occasional [Orphanet] | 74 / 7739 | |||
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(HPO:0000482) | Microcornea | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Very frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0000572) | Visual loss | Very frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0000400) | Macrotia | 108 / 7739 | ||||
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0009830) | Peripheral neuropathy | Occasional [Orphanet] | 206 / 7739 | |||
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(HPO:0001264) | Spastic diplegia | 24 / 7739 | ||||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0002751) | Kyphoscoliosis | 131 / 7739 | ||||
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(HPO:0000939) | Osteoporosis | 129 / 7739 | ||||
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(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0001845) | Overlapping toe | rare [HPO:skoehler] | 18 / 7739 | |||
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(HPO:0001382) | Joint hypermobility | rare [HPO:skoehler] | 231 / 7739 | |||
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(HPO:0002650) | Scoliosis | Frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0002808) | Kyphosis | Frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0011362) | Abnormal hair quantity | Frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0002219) | Facial hypertrichosis | 8 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0002536) | Abnormal cortical gyration | Very frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0002079) | Hypoplasia of the corpus callosum | 161 / 7739 | ||||
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(HPO:0400004) | Long ear | Frequent [Orphanet] | 94 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0001274) | Agenesis of corpus callosum | 142 / 7739 | ||||
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(HPO:0012795) | Abnormality of the optic disc | Very frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0001321) | Cerebellar hypoplasia | 114 / 7739 | ||||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Occasional [Orphanet] | 137 / 7739 | |||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Very frequent [Orphanet] | 180 / 7739 | |||
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(HPO:0012815) | Hypoplastic female external genitalia | Frequent [Orphanet] | 36 / 7739 | |||
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(HPO:0002120) | Cerebral cortical atrophy | Frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0002059) | Cerebral atrophy | 171 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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