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hyperphosphatasia with impaired intellectual development syndrome 6

Summary

Synonym

GPIBD40
HPMRS4
glycosylphosphatidylinositol biosynthesis defect 40
hyperphosphatasia with mental retardation syndrome 4

Definition

A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22.

Super Class

hyperphosphatasia with impaired intellectual development syndrome

External Links

Disease Ontology: DOID:0070437

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
84992	PIGY	phosphatidylinositol glycan anchor biosynthesis class Y	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **51 - 60** of 95 in total

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HPO ID	HPO Term
HP:0002714	Downturned corners of mouth
HP:0003155	Elevated circulating alkaline phosphatase concentration
HP:0006118	Shortening of all distal phalanges of the fingers
HP:0006808	Cerebral hypomyelination
HP:0008947	Infantile muscular hypotonia
HP:0010804	Tented upper lip vermilion
HP:0010850	EEG with spike-wave complexes
HP:0010864	Intellectual disability, severe
HP:0011471	Gastrostomy tube feeding in infancy
HP:0000505	Visual impairment

Displaying **all 7** entries
Gene ID	Gene Symbol	Description
27315	PGAP2	post-GPI attachment to proteins 2
284098	PIGW	phosphatidylinositol glycan anchor biosynthesis class W
55650	PIGV	phosphatidylinositol glycan anchor biosynthesis class V
84720	PIGO	phosphatidylinositol glycan anchor biosynthesis class O
84992	PIGY	phosphatidylinositol glycan anchor biosynthesis class Y
93210	PGAP3	post-GPI attachment to proteins phospholipase 3
9487	PIGL	phosphatidylinositol glycan anchor biosynthesis class L