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| Growth failure v2.9 | ARCN1 |
Boris Keren gene: ARCN1 was added gene: ARCN1 was added to Growth failure. Sources: Literature Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARCN1 were set to 35300924 Phenotypes for gene: ARCN1 were set to small stature; IUGR; cleft; genitourinary malformations; microcephaly; transient liver dysfunction; giant cell hepatitis; hepatoblastoma; cataracts; lethal skeletal manifestations Penetrance for gene: ARCN1 were set to Complete Review for gene: ARCN1 was set to GREEN gene: ARCN1 was marked as current diagnostic Added comment: 14 cases all with micrognathia, short stature and IUGR. Other common features : developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), microcephaly (12/15, 80%). Developmental delay 73% of patients, but only 3/14 patients had intellectual disability. Possible signs : transient liver dysfunction and specific glycosylation abnormalities during illness, giant cell hepatitis, hepatoblastoma, cataracts, and lethal skeletal manifestations Sources: Literature |
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