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MCID: TBB005
MIFTS: 19
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Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
Categories:
Bone diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies:
Name: Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
57
19
Characteristics:Inheritance:
Autosomal recessive 57
Prevelance:
Absent Tibia-Polydactyly-Arachnoid Cyst Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Absent Tibia-Polydactyly-Arachnoid Cyst Syndrome:
Infancy,Neonatal 58
Classifications:
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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GARD: 19 Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. MalaCards based summary: Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies, also known as absent tibia-polydactyly-arachnoid cyst syndrome, is related to polycystic liver disease 1 with or without kidney cysts and arachnoid cysts, intracranial. Affiliated tissues include bone, and related phenotypes are talipes equinovarus and cleft upper lip Orphanet: 58 Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. Wikipedia: 75 Absent tibia-polydactyly-arachnoid cyst syndrome, also known as Holmes-Collins syndrome, is a very rare... more...
More information from OMIM:
601027
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Diseases related to Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies:30 (show all 11)
Symptoms via clinical synopsis from OMIM®:57 (Updated 24-Oct-2022)Clinical features from OMIM®:601027 (Updated 24-Oct-2022) |
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Organs/tissues related to Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies:
MalaCards :
Bone
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Articles related to Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies:
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Search
GEO
for disease gene expression data for Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies.
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