autosomal recessive intellectual developmental disorder 46

Summary
Definition
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33.
Super Class
autosomal recessive intellectual developmental disorder
External Links
Disease Ontology
DOID:0081210
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3340 NDST1 N-deacetylase and N-sulfotransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
15531 Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
29633 Ndst1 N-deacetylase and N-sulfotransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
38736 sfl sulfateless
Displaying all 2 entries
Gene ID Gene Symbol Description Source
570459 ndst1b N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1b
100329944 ndst1a N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1a
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
443855 ndst1.S N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 S homeolog Xenopus laevis (African clawed frog)
496577 ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 Xenopus tropicalis (tropical clawed frog)
108710821 ndst1.L N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
177675 hst-1 Heparan sulfate N-sulfotransferase 1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 28 in total
HPO ID HPO Term
HP:0000639 Nystagmus
HP:0010862 Delayed fine motor development
HP:0000718 Aggressive behavior
HP:0001520 Large for gestational age
HP:0000007 Autosomal recessive inheritance
HP:0001250 Seizure
HP:0002194 Delayed gross motor development
HP:0000486 Strabismus
HP:0004322 Short stature
HP:0000713 Agitation
Displaying 1 entry
Gene ID Gene Symbol Description
3340 NDST1 N-deacetylase and N-sulfotransferase 1

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Last updated: August 19, 2024