Human Disease Genes - Upload Clinical Information

I declare that my patient or his/her parent(s)/guardian(s) has been informed that his/her clinical information has been anonymously uploaded to the Human Disease Genes website series or that the patient or his/her parent(s)/guardian(s) has given consent for a publicly accessible publication. *

Email *

First Name *

Last Name *

Speciality *

Hospital Name *

City *

Country *

Gender *

Male

Female

Indifferent

Unknown

PMID

Patient Identification Number

Age of Last Examination *

Country *

(including CNVs and structural chromosome anomalies identified by sequence-based methods such as array, WES and/or WGS)

NM_Nr *

cDNA change *

Protein change *

Genomic position *

Gene name *

Hg build *

Inheritance *

De novo

Inherited

Unknown

cDNA change

Genomic position

Protein change

Neurological abnormalities *

Yes

Unknown

Behavioral problems *

Yes

Unknown

Brain abnormality *

Yes

Unknown

Abnormal hearing *

Yes

Unknown

Abnormal vision *

Yes

Unknown

Abnormality of the heart *

Yes

Unknown

Abnormality of the lungs *

Yes

Unknown

Gastrointestinal abnormalities *

Yes

Unknown

Abnormality of the urogenital system *

Yes

Unknown

Skeletal abnormalities *

Yes

Unknown

Abnormality of the skin/hair/nails *

Yes

Unknown

Abnormality of the endocrine system *

Yes

Unknown

Abnormality of the metabolic system *

Yes

Unknown

Abnormality of the immune system *

Yes

Unknown

Neoplasia *

Yes

Unknown

Inheritance

Unknown

Autosomal dominant

Autosomal recessive

X-linked

Mitochondrial

Sporadic

Specify

Family details

Miscarriages

Intellectual disability

Congenital abnormality

Consanguineous family

Details physician
Email
First Name
Last Name
Speciality
Hospital Name
City
Country
Details patient
PMID
Patient Identification Number
Age of Last Examination
Country
Gender
Gene specific questions
Patient identifier
Fits CSS spectrum
Gestational age (weeks)
Sitting (months)
Walking (months)
First words (months)
Hypotonia?
MRI performed?
Agenesis of the corpus callosum?
Cryptorchidism?
Hypoplastic or absent distal phalanx 5th finger and/or toe?
Small or absent nails only 5th finger and/or toe?
Small or absent nails all fingers and/or toes?
Frontal bossing/high forehead/low frontal hairline?
Wormian bones?
Laryngomalacia?
Diabetes?
Hypothyroidism?
Growth hormone deficiency?
Feeding difficulties
Age onset seizures (years)
Hypertrichosis
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
Gene specific questions
Patient identifier		Fits CSS spectrum
Gestational age (weeks)		Sitting (months)
Walking (months)		First words (months)
Hypotonia?		MRI performed?
Agenesis of the corpus callosum?		Cryptorchidism?
Hypoplastic or absent distal phalanx 5th finger and/or toe?		Small or absent nails only 5th finger and/or toe?
Small or absent nails all fingers and/or toes?		Frontal bossing/high forehead/low frontal hairline?
Wormian bones?		Laryngomalacia?
Diabetes?		Hypothyroidism?
Growth hormone deficiency?		Feeding difficulties
Age onset seizures (years)		Hypertrichosis
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

Details physician

Details patient

Gene specific questions

Molecular and cytogenetic diagnosis

Second mutation in case of recessive disorder:

General

Neurology

Facial abnormalities

Visual and hearing impairments

Heart

Pulmonary

Gastrointestinal

Urogenital

Skeleton

Skin / Hair / Nails

Endocrine / Immunological / Metabolic

Neoplasia

Inheritance

Other

Family details