Human Disease Genes - Upload Clinical Information

ACTL6A

Details physician
Email
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

Details physician
Email
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

Upload Clinical Information