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Search Results
Searched for "Microcephaly".
121
results
found
on Genetics Home Reference.
Showing results 1 to 20.
- autosomal recessive primary microcephaly condition summary
Found in name or synonym: microcephaly primary hereditary
- Amish lethal microcephaly condition summary
Found in name or synonym: microcephaly, Amish type
- Feingold syndrome condition summary
Found in name or synonym: microcephaly-mesobrachyphalangy-tracheoesophageal...
- Mowat-Wilson syndrome condition summary
Found in name or synonym: Microcephaly, Mental Retardation, and Distinct...
- microcephalic osteodysplastic primordial dwarfism type II condition summary
Found: ...an unusually small head size (microcephaly). The growth problems in MOPDII...
- microcephaly definition
- pontocerebellar hypoplasia condition summary
Found: ...a small head size (microcephaly) that becomes more pronounced as...
- Cockayne syndrome condition summary
Found: ...abnormally small head size (microcephaly), and impaired development of the...
- SLC25A19 gene summary
Official name: solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
Found: ...individuals with Amish lethal microcephaly have a mutation in which the protein...
- ASPM gene summary
Official name: asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
Found: ...of autosomal recessive primary microcephaly (often shortened to MCPH, which...
- Emanuel syndrome condition summary
Found: ...an unusually small head (microcephaly), distinctive facial features,...
- Cornelia de Lange syndrome condition summary
Found: ...an unusually small head (microcephaly), hearing loss, short stature,...
- Roberts syndrome condition summary
Found: ...may have a small head size (microcephaly), and in severe cases affected...
- 1q21.1 microdeletion condition summary
Found: ...an unusually small head (microcephaly), short stature, and eye problems...
- Christianson syndrome condition summary
Found: ...include a small head size (microcephaly); a long, narrow face with prominent...
- Nijmegen breakage syndrome condition summary
Found: ...an unusually small head size (microcephaly), distinctive facial features,...
- periventricular heterotopia condition summary
Found: ...malformations, small head size (microcephaly), developmental delays, recurrent...
Related genes and chromosomes:
- PCNT gene summary
Official name: pericentrin
Found: ...of cells leads to short bones, microcephaly, and the other signs and symptoms...
- PNKP gene information
Official name: polynucleotide kinase 3'-phosphatase
Found: ...by infantile-onset seizures, microcephaly, severe intellectual disability...
- IER3IP1 gene information
Official name: immediate early response 3 interacting protein 1
Found: Microcephaly, epilepsy, and diabetes syndrome...
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