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Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
1 OMIM reference -
1 associated gene
51 connected diseases
No signs/symptoms info
Disease Type of connection
Cornelia de Lange syndrome
17q11 microdeletion syndrome
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
CHARGE syndrome
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
Kallmann syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Leber 'plus' disease
Leber hereditary optic neuropathy
Left ventricular noncompaction
Lethal restrictive dermopathy
MELAS syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Maternally-inherited Leigh syndrome
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Neuroblastoma
Normosmic congenital hypogonadotropic hypogonadism
Omenn syndrome
Progeria-associated arthropathy
X-linked dystonia-parkinsonism
Precursor T-cell acute lymphoblastic leukemia
Generalized resistance to thyroid hormone
Peripheral resistance to thyroid hormones
Selective pituitary resistance to thyroid hormone
Familial pancreatic carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
17q21.31 microdeletion syndrome
Koolen-De Vries syndrome due to a point mutation
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CTCF P49711604167
No signs/symptoms info available.