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Summary
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 MRT14
614020
OMIM = Online Medalian Inheritance of Men
19p13.12
very rare
autosomal recessive
mutation in the TECR gene
symptoms
developmental delay
intellectual disability/intellectual developmental disorder (ID/ IDD)
mental retardation
onset, childhood
speech development, delayed, abnormal
tremor or twitching
laboratory finding
no specific laboratory findings (P, S, U ,CSF) urine
Literature
Laghmani K,et al.Polyhydramnios, Transient Antenatal Bartters Syndrome, and MAGED2 MutationsN Engl J Med374191853-18632016
Kraemer BK,et al.Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevanceNat Clin Pract Nephrol4138-462008