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Baraitser-Winter syndrome
2 OMIM references -
2 associated genes
44 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 9
LIG4 syndrome
1 OMIM reference -
1 associated gene
34 signs/symptoms
Baraitser-Winter syndrome
LIG4 syndrome

ACTB
(UniProt - OMIM)
 LIG4
(UniProt - OMIM)
ACTG1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ACTG1
(0.63)
LIG4


Citations in the biomedical literature:


Baraitser-Winter syndrome
ACTB ACTG1
LIG4 syndrome
LIG4



Baraitser-Winter syndrome
LIG4 syndrome

Synonym(s):
- Cerebrofrontofacial syndrome type 3
- Iris coloboma-ptosis-intellectual deficit syndrome
Synonym(s):
- DNA ligase IV deficiency
- Ligase 4 syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: young adult
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Autosomal recessive inheritance
- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large / bulbous nose
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Telecanthus / canthal dystopy
- Thin / retracted lips

Baraitser-Winter syndrome
LIG4 syndrome

Very frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Broad cheeks / cherub-like / cherubin face
- Broad nose / nasal bridge
- Coarse face
- Coloboma of iris
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Euryblepharon / wide palpebral fissures
- High arched eyebrows
- Hypertelorism
- Long philtrum
- Macrostomia / big mouth
- Pointed chin
- Prominent metopic suture
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short columella / depressed nasal tip
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Heterochromia / mixed colouring of iris
- Large fontanelle / delayed fontanelle closure
- Low hair line (back)
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Restricted joint mobility / joint stiffness / ankylosis
- Retinoschisis / retinal / chorioretinal coloboma
- Short neck
- Trigonocephaly

Occasional
- Coloboma of the optic nerve
- Microcornea
- Puffy eyelids
- Scoliosis
- Thumb duplication / distal bifid thumb phalangeal bone
- Transient cerebral ischemia / stroke
- Webbed neck / pterygium colli


Very frequent
- Chromosome breakage
- Immunodeficiency / increased susceptibility to infections / recurrent infections

Frequent
- Acute leukemia
- Anomalies of skin, subcutaneous tissue and mucosae
- Bone marrow failure / pancytopenia
- Brachycephaly / flat occiput
- Broad nasal root
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Low hair line-front
- Lymphoma
- Narrow forehead
- Skin photosensitivity
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Anomalies of bones / skeletal anomalies
- Clinodactyly of fifth finger
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperleukocytosis / leukocytosis
- Hypothyroidy
- Insulin-independent / type 2 diabetes
- Lymphadenopathy / polyadenopathies
- Malabsorption / chronic diarrhea / steatorrhea
- Micropenis / small penis / agenesis
- Severe combined immune deficiency syndrome / SCID
- Telangiectasiae of the skin
- Undescended / ectopic testes / cryptorchidia / unfixed testes