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 |