Entry Search - 300067 300121

Search: '300067 300121 (Search in: MIM number)'

Results: 2 entries.

* 300121. DOUBLECORTIN; DCX
Cytogenetic location: Xq23, Genomic coordinates (GRCh38): X:111,293,779-111,412,192
Matching terms: 300121
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xq23	Lissencephaly, X-linked	300067	XL	3
Xq23	Subcortical laminal heterotopia, X-linked	300067	XL	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 ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB	Cellular Pathways Reactome

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# 300067. LISSENCEPHALY, X-LINKED, 1; LISX1
SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED; SCLH, INCLUDED
Cytogenetic locations: Xq23,
Matching terms: 300067
► 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
Xq23	Lissencephaly, X-linked	300067	XL	3	DCX	300121
Xq23	Subcortical laminal heterotopia, X-linked	300067	XL	3	DCX	300121

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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	Subcortical laminar heterotopia	AD	3	607432	PAFAH1B1	601545
17p13.3	Lissencephaly 1	AD	3	607432	PAFAH1B1	601545
Xp21.3	Lissencephaly, X-linked 2	XL	3	300215	ARX	300382
Xp21.3	Hydranencephaly with abnormal genitalia	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 type 1 due t… Subcortical band heterotop…	Clinical Resources Clinical Trials EuroGentest Lissencephaly type 1 due t… Subcortical band heterotop… Gene Reviews GTR OrphaNet Lissencephaly type 1 due t… Subcortical band heterotop… POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA

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ICD+
ORPHA: 2148, 99796 DO: 0112239

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Search: 300067 300121 (Search in: MIM number)

Results: 2 entries.

* 300121. DOUBLECORTIN; DCX
Cytogenetic location: Xq23, Genomic coordinates (GRCh38): X:111,293,779-111,412,192
Matching terms: 300121

# 300067. LISSENCEPHALY, X-LINKED, 1; LISX1
SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED; SCLH, INCLUDED
Cytogenetic locations: Xq23,
Matching terms: 300067

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