Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/616116
http://purl.bioontology.org/ontology/OMIM/616116
Preferred Name

INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 46
Synonyms
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46
MRT46
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46
MRT46
prefLabel
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 46
Gene Symbol
NDST1
HSST
MRT46
Scope Statement
Caused by mutation in the N-deacetylase/N-sulfotransferase 1 gene (NDST1, 600853.0001) [MOLECULAR BASIS]
Onset in infancy or early childhood [MISCELLANEOUS]
type
Has manifestation
tui
T048
Gene Locus
5q32-q33.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
616116
Semantic type UMLS property
Has inheritance type
cui
C4015283
OMIM Entry Type
3
OMIM MimType Value
pound
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display