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Central nervous system calcification-deafness-tubular acidosis-anemia syndrome

MedGen UID:
1384620
•Concept ID:
C4512024
•
Disease or Syndrome
Synonyms: Central nervous system calcification, deafness, tubular acidosis, anemia syndrome; central nervous system calcification-deafness-tubular acidosis-anemia syndrome; Central nervous system calcification-hearing loss-tubular acidosis-anemia syndrome; Yoshimura Takeshita syndrome; Yoshimura-Takeshita syndrome
SNOMED CT: Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (726669007); Yoshimura Takeshita syndrome (726669007)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017924
Orphanet: ORPHA3240

Definition

This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCentral nervous system calcification-deafness-tubular acidosis-anemia syndrome

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