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MCID: ALP067
MIFTS: 15
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Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Categories:
Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
MalaCards integrated aliases for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome:
Name: Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
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Classifications: |
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GARD :
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1005DefinitionA form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.Visit the Orphanet disease page for more resources.
MalaCards based summary : Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome, also known as alopecia-contractures-dwarfism intellectual disabilitysyndrome, is related to alopecia-contractures-dwarfism mental retardation syndrome and ichthyosis bullosa of siemens. Related phenotypes are kyphosis and joint stiffness |
Diseases related to Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome:31 (show all 33)
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Articles related to Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome:
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Search
GEO
for disease gene expression data for Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome.
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