Endocrine-cerebro-osteodysplasia
| Disorder | |
|---|---|
| OMIM #: | |
| Disorder: | Endocrine-cerebro-osteodysplasia |
| Also known as: | ECO |
| Clinical | |
| Phenotype: | hydrocephalus, cleft lip, cleft palate, fused eyelids, short limbs, polydactyly, brachydactyly, bowed long bones, adrenal insufficiency (hypoplastic adrenal glands), urogenital anomalies, ambiguous genitalia, agenesis of corpus callosum |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| ReferencesCross HE, Yoder F. (1976) Familial nanophthalmos. Am. J. Ophthal 81:300-306. PubMed ID: 1258954 1 Amish |
|
| Gene: | ICK |
| Base Change: | G>A, at nucleotide 1305 |
| Amino Acid Change: | arg 272 --> gln |
| Last updated: | 2009-03-02 |
| References |
|---|
| Lahiry P, Wang J, Robinson JF, Turowec JP, Litchfield DW, Lanktree MB, Gloor GB, Puffenberger EG, Strauss KA, Martens MB, Ramsay DA, Rupar CA, Siu V, Hegele RA. (2009) A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. Am J Hum Genet 84(2):134-47. PubMed ID: 19185282 |
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