Phenotypic Series - PS203650 - OMIM

Phenotypic Series - PS203650


Alopecia-intellectual disability syndrome - PS203650 - 4 Entries



Phenotype Mapping Key
1 - The disorder is placed on the map due to its association with a gene, but the underlying defect is not known.
2 - The disorder was placed on the map by statistical methods.
3 - The molecular basis of the disorder is known.
4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved.

Phenotypic Series - PS203650


Alopecia-intellectual disability syndrome - PS203650 - 4 Entries

Location Phenotype Inheritance Phenotype
mapping key
Phenotype
MIM number
Gene/Locus Gene/Locus
MIM number
3q26.2-q26.31 Alopecia-intellectual disability syndrome 2 AR 2 610422 APMR2 610422
3q27.3 ?Alopecia-intellectual disability syndrome 1 AR 3 203650 AHSG 138680
18q11.2-q12.2 Alopecia-intellectual disability syndrome 3 AR 2 613930 APMR3 613930
21q22.3 Alopecia-intellectual disability syndrome 4 AR 3 618840 LSS 600909



Phenotype Mapping Key
1 - The disorder is placed on the map due to its association with a gene, but the underlying defect is not known.
2 - The disorder was placed on the map by statistical methods.
3 - The molecular basis of the disorder is known.
4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved.


Inheritance Abbreviations
?AD ?Autosomal dominant
?XLR ?X-linked recessive
AD Autosomal dominant
AR Autosomal recessive
PD Pseudoautosomal dominant
PR Pseudoautosomal recessive
DD Digenic dominant
DR Digenic recessive
ICB Inherited chromosomal imbalance
IC Isolated cases
Mi Mitochondrial
Mu Multifactorial
SMo Somatic mosaicism
SMu Somatic mutation
XL X-linked
XLD X-linked dominant
XLR X-linked recessive
YL Y-linked