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Wolf-Hirschhorn syndrome
1 OMIM reference -
3 associated genes
93 connected diseases
79 signs/symptoms
Disease Type of connection
Amyotrophic lateral sclerosis
Extraskeletal Ewing sarcoma
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Frontotemporal dementia with motor neuron disease
Translocation renal cell carcinoma
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Herpetic encephalitis
Acute fatty liver of pregnancy
Acute promyelocytic leukemia
Adult-onset autosomal dominant leukodystrophy
Aicardi-Goutières syndrome
Anauxetic dysplasia
Atypical Rett syndrome
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal dominant nonsyndromic intellectual deficit
Autosomal dominant spastic paraplegia type 13
Autosomal recessive Emery-Dreifuss muscular dystrophy
Baraitser-Winter syndrome
Bifunctional enzyme deficiency
Björnstad syndrome
Charcot-Marie-Tooth disease type 2B1
Coffin-Siris syndrome
Congenital muscular dystrophy due to LMNA mutation
Cornelia de Lange syndrome
Desmoid tumor
Desmoplastic small round cell tumor
Developmental malformations - deafness - dystonia
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Dyschromatosis symmetrica hereditaria
Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial infantile bilateral striatal necrosis
Familial isolated dilated cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Familial rhabdoid tumor
GRACILE syndrome
Heart-hand syndrome, Slovenian type
Hepatocellular carcinoma, childhood-onset
Hereditary breast and ovarian cancer syndrome
Hutchinson-Gilford progeria syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Intellectual deficit, X-linked - psychosis - macroorchidism
Isolated CoQ-cytochrome C reductase deficiency
Juvenile amyotrophic lateral sclerosis
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Leigh syndrome with nephrotic syndrome
Lethal restrictive dermopathy
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Mandibuloacral dysplasia with type A lipodystrophy
Melanoma of soft part
Mitochondrial trifunctional protein deficiency
Myxoid / round cell liposarcoma
Nijmegen breakage syndrome-like disorder
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Perrault syndrome
Precursor T-cell acute lymphoblastic leukemia
Progeria-associated arthropathy
Pulverulent cataract
Renal tubulopathy - encephalopathy - liver failure
Retinitis pigmentosa
Rett syndrome
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe neonatal-onset encephalopathy with microcephaly
Spinocerebellar ataxia type 36
TARP syndrome
Trisomy Xq28
Williams syndrome
X-linked non-syndromic intellectual deficit
Dedifferentiated liposarcoma
Temtamy syndrome
Well-differentiated liposarcoma
- 4p- syndrome
- Distal deletion 4p
- Distal monosomy 4p
- Telomeric deletion 4p

Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
- Rare surgical thoracic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: sporadic
External references:
1 OMIM reference -
2 MeSH references: C536740 / D054877

Gene symbol UniProt reference OMIM reference
LETM1 O95202604407
NELFA Q9H3P2606026
WHSC1 O96028602952
Very frequent
- Anodontia / oligodontia / hypodontia
- Anomalies of mouth, lip and philtrum
- Ataxia / incoordination / trouble of the equilibrium
- Broad nose / nasal bridge
- Dolichocephaly / scaphocephaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Downturned mouth
- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fetal immobility / abnormal fetal movements
- Frontal bossing / prominent forehead
- High arched eyebrows
- High forehead
- High hair line (front) / widow peak
- Hypertelorism
- Hypospadias / epispadias / bent penis
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Low set ears / posteriorly rotated ears
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short philtrum

- Abnormal vertebral size / shape
- Anomalies of chest / thorax / trunk
- Anomalies of hands
- Anomalies of spine, vertebrae and pelvis
- Atrial septal defect / interauricular communication
- Big toe anomaly (excluding absence)
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Cardiac septal defect
- Cardiac valvulopathy
- Cleft lip and palate
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Delayed bone age
- Diaphragmatic hernia / defect / agenesis
- Foot anomalies
- Hearing loss / hypoacusia / deafness
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Kyphosis
- Long hand / arachnodactyly
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Ptosis
- Renal / kidney anomalies
- Rib number anomalies
- Sacral sinus / dimple
- Scalp / skull defect
- Scoliosis
- Talipes-varus / metatarsal varus
- Thumb duplication / distal bifid thumb phalangeal bone
- Thumb hypoplasia / aplasia / absence
- Undescended / ectopic testes / cryptorchidia / unfixed testes

- Anomalies of the immunitary system
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Chronic / relapsing otitis
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Corpus callosum / septum pellucidum total / partial agenesis
- Gallbladder / common bile duct anomalies
- Herniae
- Hypoplastic / absent nipples
- Long limbs / dolichostenomelia
- Megalocornea
- Movement disorder
- Nystagmus
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Proptosis / exophthalmos
- Repeat respiratory infections
- Retinopathy
- Sclerocornea
- Situs inversus visceralis / colon / intestine trasposition / heterotaxia
- Stillbirth / neonatal death
- Strabismus / squint
- Structural anomalies of the genital system
- Structural anomalies of the kidney and the urinary tract