Upload clinical information

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Details physician

Email Address: *

First name:

Last name: *

Specialty: *

Hospital name: *

City: *

Country: *

Details patient

Gender: *

Male Female

PMID:

Identification number patient:

Age of last examination: *

Country: *

Molecular and cytogenetic diagnosis

(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

Second mutation in case of recessive disorder:

cDNA change:

Genomic position:

Protein change:

General

Neurology

Neurological abnormalities: *

Yes

Unknown

Behavioral problems: *

Yes

Unknown

Brain abnormality: *

Yes

Unknown

Facial abnormalities

Visual and hearing impairments

Abnormal hearing: *

Yes

Unknown

Abnormal vision: *

Yes

Unknown

Heart

Abnormality of the heart: *

Yes

Unknown

Gastrointestinal

Gastrointestinal abnormalities: *

Yes

Unknown

Urogenital

Abnormality of the urogenital system: *

Yes

Unknown

Skeleton

Skeletal abnormalities: *

Yes

Unknown

Skin / hair / nails

Abnormality of the skin/hair/nails: *

Yes

Unknown

Endocrine / Immunological / Metabolic

Abnormality of the immune system: *

Yes

Unknown

Abnormality of the metabolic system: *

Yes

Unknown

Abnormality of the endocrine system: *

Yes

Unknown

Neoplasia

Neoplasia: *

Yes

Unknown

Inheritance

Inheritance:

Autosomal dominant

Autosomal recessive

X-linked

Sporadic

Mitochondrial

Unknown

Other

Specify:

Family details

Family details:

Miscarriages Intellectual disability Congenital abnormality Consanguineous family