Hydrolethalus
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 58 |
| OrphanetNr: | 2189 |
| OMIM Id: |
236680
614120 |
| ICD-10: |
Q87.8 |
| UMLs: |
C2931104 |
| MeSH: |
C536079 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 5 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic syndrome with a central nervous system malformation as major feature
-Rare genetic disease Orofacial clefting syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease Other syndrome with a central nervous system malformation as major feature -Rare developmental defect during embryogenesis -Rare neurologic disease |
Symptom Information:
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(HPO:0000142) | Abnormality of the vagina | 24 / 7739 | ||||
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(HPO:0000047) | Hypospadias | 33.0000 % [HPO] | 250 / 7739 | |||
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(HPO:0000035) | Abnormality of the testis | Occasional [Orphanet] | 296 / 7739 | |||
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(HPO:0000126) | Hydronephrosis | 16.0000 % [HPO] | 119 / 7739 | |||
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(HPO:0000136) | Bifid uterus | 33.0000 % [HPO] | 6 / 7739 | |||
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(HPO:0000130) | Abnormality of the uterus | Occasional [Orphanet] | 86 / 7739 | |||
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(HPO:0000366) | Abnormality of the nose | Frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0009752) | Cleft in skull base | 76.0000 % [HPO] | 2 / 7739 | |||
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(HPO:0000490) | Deeply set eye | Frequent [Orphanet] | 131 / 7739 | |||
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(HPO:0000475) | Broad neck | 12 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 100.0000 % [HPO] | 426 / 7739 | |||
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(HPO:0000161) | Median cleft lip | 27 / 7739 | ||||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000568) | Microphthalmia | 86.0000 % [HPO] | 183 / 7739 | |||
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(HPO:0000175) | Cleft palate | 55.0000 % [HPO] | 349 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0001305) | Dandy-Walker malformation | 79 / 7739 | ||||
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(HPO:0011803) | Bifid nose | 12 / 7739 | ||||
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(HPO:0000204) | Cleft upper lip | Frequent [Orphanet] | 193 / 7739 | |||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Occasional [Orphanet] | 142 / 7739 | |||
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(HPO:0000369) | Low-set ears | 70.0000 % [HPO] | 372 / 7739 | |||
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(HPO:0000377) | Abnormality of the pinna | 70.0000 % [HPO] | 111 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0008216) | Adrenal gland dysgenesis | 2 / 7739 | ||||
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(HPO:0001177) | Preaxial hand polydactyly | 59 / 7739 | ||||
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(HPO:0001162) | Postaxial hand polydactyly | Very frequent [Orphanet] 77.0000 % [HPO] | 119 / 7739 | |||
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(HPO:0006379) | Proximal tibial hypoplasia | 2 / 7739 | ||||
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(HPO:0009824) | Upper limb undergrowth | 24.0000 % [HPO] | 8 / 7739 | |||
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(HPO:0002983) | Micromelia | Occasional [Orphanet] | 130 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | 52.0000 % [HPO] | 309 / 7739 | |||
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(HPO:0010066) | Duplication of phalanx of hallux | 47.0000 % [HPO] | 9 / 7739 | |||
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(HPO:0001622) | Premature birth | Very frequent [Orphanet] | 100 / 7739 | |||
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(HPO:0001561) | Polyhydramnios | Very frequent [Orphanet] 92.0000 % [HPO] | 191 / 7739 | |||
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(HPO:0001539) | Omphalocele | 102 / 7739 | ||||
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(HPO:0001747) | Accessory spleen | 8 / 7739 | ||||
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(HPO:0008986) | Agenesis of the diaphragm | 3 / 7739 | ||||
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(HPO:0001511) | Intrauterine growth retardation | 358 / 7739 | ||||
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(HPO:0001629) | Ventricular septal defect | 316 / 7739 | ||||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Frequent [Orphanet] | 355 / 7739 | |||
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(HPO:0001674) | Complete atrioventricular canal defect | 48.0000 % [HPO] | 11 / 7739 | |||
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(HPO:0012252) | Abnormal respiratory system morphology | Frequent [Orphanet] | 14 / 7739 | |||
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(HPO:0002777) | Tracheal stenosis | Frequent [Orphanet] 57.0000 % [HPO] | 35 / 7739 | |||
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(HPO:0008749) | Laryngeal hypoplasia | 57.0000 % [HPO] | 5 / 7739 | |||
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(HPO:0002101) | Abnormal lung lobation | 66.0000 % [HPO] | 33 / 7739 | |||
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(HPO:0001601) | Laryngomalacia | Frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0001274) | Agenesis of corpus callosum | 142 / 7739 | ||||
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(HPO:0002139) | Arrhinencephaly | 13 / 7739 | ||||
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(HPO:0012443) | Abnormality of brain morphology | Occasional [Orphanet] | 45 / 7739 | |||
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(HPO:0002282) | Heterotopia | 21 / 7739 | ||||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0003826) | Stillbirth | 73.0000 % [HPO] | 40 / 7739 | |||
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(HPO:0002536) | Abnormal cortical gyration | 72 / 7739 | ||||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Very frequent [Orphanet] | 180 / 7739 | |||
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(HPO:0000238) | Hydrocephalus | Very frequent [Orphanet] | 278 / 7739 | |||
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(HPO:0001331) | Absent septum pellucidum | 16 / 7739 | ||||
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(HPO:0002323) | Anencephaly | Occasional [Orphanet] | 28 / 7739 | |||
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(HPO:0006882) | Severe hydrocephalus | 92.0000 % [HPO] | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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