Entry Search - 601545 607432

Search: '601545 607432 (Search in: MIM number)'

Results: 2 entries.

* 601545. PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT; PAFAH1B1
Cytogenetic location: 17p13.3, Genomic coordinates (GRCh38): 17:2,593,183-2,685,615
Matching terms: 601545
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
17p13.3	Lissencephaly 1	607432	AD	3
17p13.3	Subcortical laminar heterotopia	607432	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 253147000

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# 607432. LISSENCEPHALY 1; LIS1
SUBCORTICAL LAMINAR HETEROTOPIA, INCLUDED; SCLH, INCLUDED
Cytogenetic locations: 17p13.3,
Matching terms: 607432
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
17p13.3	Lissencephaly 1	607432	AD	3	PAFAH1B1	601545
17p13.3	Subcortical laminar heterotopia	607432	AD	3	PAFAH1B1	601545

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Lissencephaly - PS607432 - 16 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p34.3	Lissencephaly 9 with complex brainstem malformation	AD	3	618325	MACF1	608271
6q22.31	Lissencephaly 10	AD	3	618873	CEP85L	618865
7q22.1	Lissencephaly 2 (Norman-Roberts type)	AR	3	257320	RELN	600514
7q31.1	Lissencephaly 5	AR	3	615191	LAMB1	150240
7q36.1	?Lissencephaly 7 with cerebellar hypoplasia	AR	3	616342	CDK5	123831
12q13.12	Lissencephaly 3	AD	3	611603	TUBA1A	602529
12q21.32	Lissencephaly 8	AR	3	617255	TMTC3	617218
16p13.11	Lissencephaly 4 (with microcephaly)	AR	3	614019	NDE1	609449
16q21	Lissencephaly 6, with microcephaly	AR	3	616212	KATNB1	602703
17p13.3	Miller-Dieker lissencephaly syndrome	AD	4	247200	MDLS	247200
17p13.3	Lissencephaly 1	AD	3	607432	PAFAH1B1	601545
17p13.3	Subcortical laminar heterotopia	AD	3	607432	PAFAH1B1	601545
Xp21.3	Hydranencephaly with abnormal genitalia	XL	3	300215	ARX	300382
Xp21.3	Lissencephaly, X-linked 2	XL	3	300215	ARX	300382
Xq23	Lissencephaly, X-linked	XL	3	300067	DCX	300121
Xq23	Subcortical laminal heterotopia, X-linked	XL	3	300067	DCX	300121

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Links
Testing GTR EuroGentest Lissencephaly due to LIS1 … Subcortical band heterotop…	Clinical Resources Clinical Trials EuroGentest Lissencephaly due to LIS1 … Subcortical band heterotop… Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet Lissencephaly due to LIS1 … Subcortical band heterotop…	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
SNOMEDCT: 253147000 ORPHA: 95232, 99796 DO: 0112237

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Search: 601545 607432 (Search in: MIM number)

Results: 2 entries.

* 601545. PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT; PAFAH1B1
Cytogenetic location: 17p13.3, Genomic coordinates (GRCh38): 17:2,593,183-2,685,615
Matching terms: 601545

# 607432. LISSENCEPHALY 1; LIS1
SUBCORTICAL LAMINAR HETEROTOPIA, INCLUDED; SCLH, INCLUDED
Cytogenetic locations: 17p13.3,
Matching terms: 607432

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