SOX3_PHPX_GCN

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green SOX3_PHPX_GCN STR in Mendeliome Version 1.4851	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123 Panhypopituitarism, X-linked MIM#312000 Tags paediatric-onset
Green SOX3_PHPX_GCN STR in Pituitary hormone deficiency Level 3: Pituitary disorders Level 2: Endocrine disorders Version 0.226	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123 Panhypopituitarism, X-linked MIM#312000 Tags paediatric-onset
Green SOX3_PHPX_GCN STR in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 0.120	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123 Panhypopituitarism, X-linked MIM#312000 Tags paediatric-onset
Green SOX3_PHPX_GCN STR in Repeat Disorders Version 0.272	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123 Panhypopituitarism, X-linked MIM#312000 Tags paediatric-onset