Marom R, et al. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017;38(10):1365-1371. PMID: 28649782.
Marom R, et al. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017;38(10):1365-1371. PMID: 28649782.
Details physician | |||
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PMID | |||
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Molecular and cytogenetic diagnosis | |||
NM_Nr | |||
cDNA change | |||
Protein change | |||
Genomic position | |||
Gene name | |||
Hg build | |||
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Second mutation in case of recessive disorder: | |||
cDNA change | |||
Genomic position | |||
Protein change | |||
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Birth Head circumference | |||
Current Height | |||
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Current Head circumference | |||
Motor delay | |||
Speech delay | |||
Intellectual disabillity | |||
Severity of intellectual disability | |||
IQ patient | |||
Other/specify | |||
Neurology | |||
Neurological abnormalities | |||
Behavioral problems | |||
Brain abnormality | |||
Facial abnormalities | |||
Abnormality of the ear | |||
Abnormality of the eye | |||
Abnormality of the nose | |||
Abnormality of the mouth | |||
Other/specify | |||
Visual and hearing impairments | |||
Abnormal hearing | |||
Abnormal vision | |||
Heart | |||
Abnormality of the heart | |||
Pulmonary | |||
Abnormality of the lungs | |||
Gastrointestinal | |||
Gastrointestinal abnormalities | |||
Urogenital | |||
Abnormality of the urogenital system | |||
Skeleton | |||
Skeletal abnormalities | |||
Skin / Hair / Nails | |||
Abnormality of the skin/hair/nails | |||
Endocrine / Immunological / Metabolic | |||
Abnormality of the endocrine system | |||
Abnormality of the metabolic system | |||
Abnormality of the immune system | |||
Neoplasia | |||
Neoplasia | |||
Inheritance | |||
Inheritance | |||
Other | |||
Specify | |||
Family details | |||
Family details |
Details physician | |||
First Name | Last Name | ||
Speciality | Hospital Name | ||
City | Country | ||
Details patient | |||
PMID | Patient Identification Number | ||
Age of Last Examination | Country | ||
Gender | |||
Molecular and cytogenetic diagnosis | |||
NM_Nr | cDNA change | Protein change | Genomic position | Gene name | Hg build | Inheritance |
Second mutation in case of recessive disorder: | |||
cDNA change | Genomic position | Protein change | |
General | |||
Birth Length | Birth Weight | Birth Head circumference | Current Height | Current Weight | Current Head circumference | Motor delay | Speech delay | Intellectual disabillity | Severity of intellectual disability | IQ patient | Other/specify |
Neurology | |||
Neurological abnormalities | Behavioral problems | Brain abnormality | |
Facial abnormalities | |||
Abnormality of the ear | Abnormality of the eye | Abnormality of the nose | Abnormality of the mouth | Other/specify |
Visual and hearing impairments | |||
Abnormal hearing | Abnormal vision | ||
Heart | |||
Abnormality of the heart | |||
Pulmonary | |||
Abnormality of the lungs | |||
Gastrointestinal | |||
Gastrointestinal abnormalities | |||
Urogenital | |||
Abnormality of the urogenital system | |||
Skeleton | |||
Skeletal abnormalities | |||
Skin / Hair / Nails | |||
Abnormality of the skin/hair/nails | |||
Endocrine / Immunological / Metabolic | |||
Abnormality of the endocrine system | Abnormality of the metabolic system | Abnormality of the immune system | |
Neoplasia | |||
Neoplasia | |||
Inheritance | |||
Inheritance | |||
Other | |||
Specify | |||
Family details | |||
Family details |
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