Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123, Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252, Panhypopituitarism, X-linked, OMIM:312000, Panhypopituitarism, X-linked, MONDO:0010712 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123, Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252, Panhypopituitarism, X-linked, OMIM:312000, Panhypopituitarism, X-linked, MONDO:0010712 |
Green in Pituitary hormone deficiencyR-numbers: R159 Signed-off version 3.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123, Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252, Panhypopituitarism, X-linked, OMIM:312000, Panhypopituitarism, X-linked, MONDO:0010712 |