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Baraitser-Winter syndrome
2 OMIM references -
2 associated genes
230 connected diseases
44 signs/symptoms
Disease Type of connection
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Developmental malformations - deafness - dystonia
Precursor T-cell acute lymphoblastic leukemia
Chronic granulomatous disease
Typical nemaline myopathy
Young adult-onset Parkinsonism
Blackfan-Diamond anemia
Familial pancreatic carcinoma
Left ventricular noncompaction
Familial isolated dilated cardiomyopathy
Amyotrophic lateral sclerosis
Precursor B-cell acute lymphoblastic leukemia
Giant cell glioblastoma
Gliosarcoma
Common variable immunodeficiency
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Coffin-Siris syndrome
Familial melanoma
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Heritable pulmonary arterial hypertension
Hypohidrotic ectodermal dysplasia with immunodeficiency
Intermediate nemaline myopathy
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Burkitt lymphoma
Familial amyloidosis, Finnish type
B-cell chronic lymphocytic leukemia
Bardet-Biedl syndrome
Congenital glaucoma
Early-onset autosomal dominant Alzheimer disease
Fibronectin glomerulopathy
Hereditary breast and ovarian cancer syndrome
Juvenile glaucoma
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial thoracic aortic aneurysm and aortic dissection
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Cap myopathy
Digitotalar dysmorphism
Sheldon-Hall syndrome
Familial rhabdoid tumor
X-linked Emery-Dreifuss muscular dystrophy
Spectrin-associated autosomal recessive cerebellar ataxia
Spinocerebellar ataxia type 5
CADDS
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Estrogen resistance syndrome
Familial multiple meningioma
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Chuvash erythrocytosis
Constitutional mismatch repair deficiency syndrome
Ewing sarcoma
Extraskeletal Ewing sarcoma
Hereditary nonpolyposis colon cancer
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Peripheral primitive neuroectodermal tumor
Von Hippel-Lindau disease
Neutrophil immunodeficiency syndrome
Hypoplasminogenemia
Ligneous conjunctivitis
Adult-onset distal myopathy due to VCP mutation
Charcot-Marie-Tooth disease type 4D
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Spastic paraplegia - Paget disease of bone
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Anaplastic ependymoma
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Autosomal dominant hypohidrotic ectodermal dysplasia
Cone rod dystrophy
Congenital myopathy with excess of thin filaments
Cowden syndrome
Familial gastric cancer
Gastric linitis plastica
Incontinentia pigmenti
Intermittent hydrarthrosis
Leber congenital amaurosis
Marie Unna hereditary hypotrichosis
Proteus syndrome
Retinal macular dystrophy type 2
Retinitis pigmentosa
Senior-Loken syndrome
Severe congenital nemaline myopathy
Stargardt disease
TRAPS syndrome
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Aneurysm - osteoarthritis syndrome
Atrial septal defect, ostium secundum type
Channelopathy-associated congenital insensitivity to pain
Paroxysmal extreme pain disorder
Primary erythermalgia
Sodium channelopathy-related small fiber neuropathy
17q11 microdeletion syndrome
Adrenocortical carcinoma
Autosomal recessive nonsyndromic intellectual deficit
Berardinelli-Seip congenital lipodystrophy
Chronic mucocutaneous candidiasis
Complete androgen insensitivity syndrome
Congenital bilateral absence of vas deferens
Cystic fibrosis
Distal myopathy with posterior leg and anterior hand involvement
Dyskeratosis congenita
Essential thrombocythemia
Familial amyloid polyneuropathy
Familial congenital mirror movements
Familial hypospadias
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Familial prostate cancer
Gitelman syndrome
Hereditary breast cancer
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
Hereditary chronic pancreatitis
Hereditary site-specific ovarian cancer syndrome
Hoyeraal-Hreidarsson syndrome
Hyper-IgM syndrome type 2
Hyperinsulinism due to HNF1A deficiency
Hyperlipidemia type 3
Idiopathic bronchiectasis
Isolated focal cortical dysplasia type IIb
Kennedy disease
Kufor-Rakeb syndrome
LIG4 syndrome
Li-Fraumeni syndrome
Lipoprotein glomerulopathy
Lymphangioleiomyomatosis
MODY syndrome
Male infertility with normal virilization due to meiosis defect
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Multiple endocrine neoplasia type 1
Muscle filaminopathy
Omenn syndrome
Papilloma of choroid plexus
Parkinsonian-pyramidal syndrome
Parkinsonim due to ATP13A2 deficiency
Partial androgen insensitivity syndrome
Phosphoenolpyruvate carboxykinase 1 deficiency
Primary peritoneal carcinoma
Pseudohypoaldosteronism type 2E
Pyogenic arthritis - pyoderma gangrenosum - acne
Renal tubular dysgenesis of genetic origin
Retinopathy - anemia- central nervous system anomalies
Richieri Costa-Pereira syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Sea-blue histiocytosis
Synovial sarcoma
Transthyretin-related familial amyloid cardiomyopathy
Tuberous sclerosis
Weaver syndrome
West syndrome
Wolf-Hirschhorn syndrome
Autosomal dominant spastic paraplegia type 13
Familial isolated congenital asplenia
Inflammatory myofibroblastic tumor
Isolated ATP synthase deficiency
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Spinocerebellar ataxia type 12
Wiskott-Aldrich syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
Lissencephaly due to TUBA1A mutation
Pulverulent cataract
Severe combined immunodeficiency due to LCK deficiency
Spondylometaphyseal dysplasia - cone-rod dystrophy
Atypical Werner syndrome
Autoimmune lymphoproliferative syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant centronuclear myopathy
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive systemic lupus erythematosus
Bifunctional enzyme deficiency
Charcot-Marie-Tooth disease type 2B1
Classical progressive supranuclear palsy
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
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Heart-hand syndrome, Slovenian type
Hereditary arterial and articular multiple calcification syndrome
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Nodulosis-arthropathy-osteolysis syndrome
Perrault syndrome
Progeria-associated arthropathy
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Pseudohyperaldosteronism type 2
Renal pseudohypoaldosteronism type 1
Severe combined immunodeficiency due to CORO1A deficiency
Smith-Magenis syndrome
Torg-Winchester syndrome
Trismus - pseudocamptodactyly
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Familial aortic dissection
Synonym(s):
- Cerebrofrontofacial syndrome type 3
- Iris coloboma-ptosis-intellectual deficit syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
ACTB P60709102630
ACTG1 P63261102560
Very frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Autosomal recessive inheritance
- 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
- Epicanthic folds
- Euryblepharon / wide palpebral fissures
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High arched eyebrows
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long philtrum
- Macrostomia / big mouth
- Micrognathia / retrognathia / micrognathism / retrognathism
- 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
- Telecanthus / canthal dystopy
- Thin / retracted lips

Frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Heterochromia / mixed colouring of iris
- Large fontanelle / delayed fontanelle closure
- Long / large / bulbous nose
- Low hair line (back)
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- 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