Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA

Synonyms

MICPCH

ID

http://purl.bioontology.org/ontology/OMIM/300749

altLabel

MICPCH

MICPCH SYNDROME

MRXSNA

MENTAL RETARDATION, X-LINKED, SYNDROMIC, NAJM TYPE

cui

C2677903

Gene Locus

Xp11.4

Gene Symbol

MICPCH

CASK

FGS4

CMG

MRXSNA

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000691

http://purl.bioontology.org/ontology/OMIM/MTHU004882

http://purl.bioontology.org/ontology/OMIM/MTHU009275

http://purl.bioontology.org/ontology/OMIM/MTHU032764

http://purl.bioontology.org/ontology/OMIM/MTHU049238

http://purl.bioontology.org/ontology/OMIM/MTHU049236

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU032762

http://purl.bioontology.org/ontology/OMIM/MTHU012225

http://purl.bioontology.org/ontology/OMIM/MTHU032760

http://purl.bioontology.org/ontology/OMIM/MTHU032766

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU002391

http://purl.bioontology.org/ontology/OMIM/MTHU000324

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU002709

http://purl.bioontology.org/ontology/OMIM/MTHU001452

http://purl.bioontology.org/ontology/OMIM/MTHU021361

http://purl.bioontology.org/ontology/OMIM/MTHU032757

http://purl.bioontology.org/ontology/OMIM/MTHU049237

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU021233

http://purl.bioontology.org/ontology/OMIM/MTHU003716

http://purl.bioontology.org/ontology/OMIM/MTHU003574

http://purl.bioontology.org/ontology/OMIM/MTHU002599

http://purl.bioontology.org/ontology/OMIM/MTHU003760

http://purl.bioontology.org/ontology/OMIM/MTHU032759

http://purl.bioontology.org/ontology/OMIM/MTHU032761

http://purl.bioontology.org/ontology/OMIM/MTHU005671

http://purl.bioontology.org/ontology/OMIM/MTHU036385

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU000712

http://purl.bioontology.org/ontology/OMIM/MTHU032763

http://purl.bioontology.org/ontology/OMIM/MTHU002113

http://purl.bioontology.org/ontology/OMIM/MTHU001788

http://purl.bioontology.org/ontology/OMIM/MTHU003290

http://purl.bioontology.org/ontology/OMIM/MTHU031277

http://purl.bioontology.org/ontology/OMIM/MTHU004222

http://purl.bioontology.org/ontology/OMIM/MTHU000094

http://purl.bioontology.org/ontology/OMIM/MTHU000197

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

300749

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C567466 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C567466 Medical Subject Headings LOOM