loading...| Preferred Name |
Seckel syndrome |
|
| Synonyms |
Seckel-type Dwarfism Harper's syndrome SCKL nanocephalic Dwarfism bird-headed dwarfism Virchow-Seckel dwarfism |
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| Definitions |
A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0019342 |
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| has_exact_synonym |
Seckel-type Dwarfism Harper's syndrome SCKL nanocephalic Dwarfism bird-headed dwarfism Virchow-Seckel dwarfism |
|
| label |
Seckel syndrome |
|
| prefixIRI |
MONDO:0019342 |
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| prefLabel |
Seckel syndrome |
|
| textual definition |
A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017950 |