ISCA-37434-Loss

1p36 terminal region (includes GABRD) Loss
PanelMode of inheritanceDetails
3 panels
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
posteriorly rotated, low-set, abnormal ears, brachycephaly, epicanthus, heart defects, pointed chin, deep-set eyes, microcephaly, hypotonia, seizures, poor/absent speech, central nervous system anomalies, large anterior fontanels, microbrachycephaly, mental retardation, growth impairment, large, late-closing anterior fontanel, flat nose, nasal bridge, developmental delay, hearing impairment, distinct dysmorphic features, 1p36 deletion syndrome, 607872
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
posteriorly rotated, low-set, abnormal ears, brachycephaly, epicanthus, heart defects, pointed chin, deep-set eyes, microcephaly, hypotonia, seizures, poor/absent speech, central nervous system anomalies, large anterior fontanels, microbrachycephaly, mental retardation, growth impairment, large, late-closing anterior fontanel, flat nose, nasal bridge, developmental delay, hearing impairment, distinct dysmorphic features, 1p36 deletion syndrome, 607872
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
posteriorly rotated, low-set, abnormal ears, brachycephaly, epicanthus, heart defects, pointed chin, deep-set eyes, microcephaly, hypotonia, seizures, poor/absent speech, central nervous system anomalies, large anterior fontanels, microbrachycephaly, mental retardation, growth impairment, large, late-closing anterior fontanel, flat nose, nasal bridge, developmental delay, hearing impairment, distinct dysmorphic features, 1p36 deletion syndrome, 607872