PHOX2B_CCHS_GCN

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green PHOX2B_CCHS_GCN STR in Central Hypoventilation Level 2: Neurology and neurodevelopmental disorders Version 1.7	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Phenotypes Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880 Tags paediatric-onset
Green PHOX2B_CCHS_GCN STR in Hirschsprung disease Level 2: Gastroenterological disorders Version 0.28	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert list Phenotypes Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880 Tags paediatric-onset
Green PHOX2B_CCHS_GCN STR in Mendeliome Version 1.4851	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert list Phenotypes Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880 Tags paediatric-onset
Green PHOX2B_CCHS_GCN STR in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 1.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert list Phenotypes Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880 Tags paediatric-onset
Green PHOX2B_CCHS_GCN STR in Repeat Disorders Version 0.272	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880 Tags paediatric-onset
Green PHOX2B_CCHS_GCN STR in Fetal anomalies Version 1.576	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert list Phenotypes Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880 Tags paediatric-onset