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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Craniofacial Abnormalities (D019465)
..Starting node ..Cerebrofrontofacial Syndrome (C563904)
Child Nodes:
Sister Nodes:
..22q11 Deletion Syndrome (D058165) 5
..3C syndrome (C535313)
..Abidi X-linked mental retardation syndrome (C535556)
..Alopecia, epilepsy, pyorrhea, mental subnormality (C537057)
..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..Arthrogryposis multiplex congenita whistling face (C538401)
..Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385)
..Arthrogryposis-like hand anomaly and sensorineural deafness (C535386)
..Arthropathy, Erosive (C565273)
..Asymmetric Short Stature Syndrome (C566248)
..AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
..AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..Baker Vinters syndrome (C537899)
..Birk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
..Blepharochalasis And Double Lip (C562742)
..Blepharophimosis with Facial and Genital Anomalies and Mental Retardation (C565797)
..Brachymesomelia renal syndrome (C537096)
..Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia (C537100)
..Brachytelephalangy characteristic facies Kallmann (C537101)
..Branchial Cleft Anomalies (C562384)
..Calvarial hyperostosis (C537963)
..Camptodactyly syndrome Guadalajara type 2 (C537971)
..Cerebrofrontofacial Syndrome (C563904)
..Cerebrooculofacioskeletal Syndrome 2 (C565185)
..Cerebrooculofacioskeletal Syndrome 4 (C565184)
..Cerebrooculonasal Syndrome (C565313)
..CHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
..Chromosome 18 Pericentric Inversion (C563734)
..Chromosome 2p16.1-P15 Deletion Syndrome (C567289)
..Chromosome 2q31.2 Deletion Syndrome (C567344)
..CHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230)
..Chromosome Xq28 Duplication Syndrome (C567580)
..Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427)
..Cleidocranial Dysplasia (D002973) 5
..COCOON SYNDROME (OMIM:613630)
..CODAS syndrome (C536434)
..Combined Oxidative Phosphorylation Deficiency 2 (C566468)
..Congenital Cataracts, Facial Dysmorphism, And Neuropathy (C565822)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Costello Syndrome (D056685)
..COUSIN SYNDROME (OMIM:260660)
..Cranioacrofacial Syndrome (C565147)
..Craniodiaphyseal Dysplasia (C562940)
..Craniodiaphyseal Dysplasia, Autosomal Dominant (C567275)
..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells (C565731)
..Craniofacial deafness hand syndrome (C536453)
..Craniofacial Dysostosis (D003394) 68
..Craniofacial dyssynostosis (C536455)
..Craniofacioskeletal Syndrome (C567471)
..Craniofrontonasal dysplasia (C536456)
..Craniolenticulosutural Dysplasia (C564332)
..Craniomicromelic Syndrome (C566522)
..Craniorhiny (C565144)
..Craniosynostoses (D003398) 64
..Curly hair-acral keratoderma-caries syndrome (C536220)
..Desbuquois syndrome (C535943)
..Diaphanospondylodysostosis (C564305)
..Digitorenocerebral Syndrome (C563052)
..Donohue Syndrome (D056731) 1
..Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism (C563293)
..Exchondrosis Of Pinna, Posterior (C565036)
..Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis (C567195)
..Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly (C566524)
..Faciocardiomelic Syndrome (C567176)
..Fg Syndrome 5 (C564480)
..Floating-harbor syndrome (C537062)
..Forebrain Defects (C566067)
..Fountain syndrome (C537270)
..Fragile Site 16p12 (C565001)
..Fraser-Like Syndrome (C565562)
..Fronto-facio-nasal dysplasia (C538063)
..Frontonasal dysplasia (C538065) 3
..Frontoocular Syndrome (C565340)
..Frontootopalatodigital Osteodysplasia (C567578)
..Fryns-Aftimos Syndrome (C565258)
..Game Friedman Paradice syndrome (C535406)
..GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
..Genitopatellar Syndrome (C565255)
..Goldberg-Shprintzen megacolon syndrome (C537279)
..Gomez Lopez Hernandez syndrome (C537285)
..Gorlin Chaudhry Moss syndrome (C537290)
..Gracile bone dysplasia (C537291)
..Grant syndrome (C537293)
..Hall Riggs mental retardation syndrome (C535623)
..Hanhart syndrome (C535629)
..Harrod Doman Keele syndrome (C535635)
..Haspeslagh Fryns Muelenaere syndrome (C535844)
..Hecht Scott syndrome (C535856)
..Hennekam lymphangiectasia lymphedema syndrome (C537255)
..Holoprosencephaly (D016142) 22
..Humeroradial Synostosis with Craniofacial Anomalies (C566888)
..Hypotonia-Cystinuria Syndrome (C564710)
..Ichthyosis cheek eyebrow syndrome (C536084)
..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
..Jequier Kozlowski skeletal dysplasia (C537569)
..Jones Hersh Yusk syndrome (C535885)
..Kapur Toriello syndrome (C537008)
..Kleefstra Syndrome (C563043)
..Kosztolanyi syndrome (C537024)
..Larsen syndrome, dominant type (C537873)
..Leichtman Wood Rohn syndrome (C537003)
..LEOPARD Syndrome (D044542) 2
..LIG4 Syndrome (C564694)
..Loeys-Dietz Syndrome (D055947) 5
..Lujan Fryns syndrome (C537724)
..Malpuech facial clefting syndrome (C535704)
..Mandibuloacral dysplasia with type B lipodystrophy (C535706)
..Mandibulofacial Dysostosis Syndrome, Bauru Type (C565744)
..Mandibulofacial Dysostosis with Macroblepharon and Macrostomia (C566520)
..Marshall syndrome (C536025)
..Marshall-Smith syndrome (C536026)
..Maxillofacial Abnormalities (D019767) 169
..Megalencephaly (D058627) 23
..Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810)
..Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism (C565246)
..Microcephaly (D008831) 140
..Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation (C566361)
..Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
..Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..Morillo-Cucci Passarge syndrome (C536983)
..MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM (OMIM:300845)
..Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency (C563829)
..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..Nablus mask-like facial syndrome (C536110)
..Neurofaciodigitorenal syndrome (C537388)
..NF1 Microdeletion Syndrome (C563524)
..Noonan Syndrome (D009634) 12
..Oculoauriculofrontonasal syndrome (C537865)
..Oculocerebral hypopigmentation syndrome type Preus (C537866)
..Oculodentodigital Dysplasia (C563160)
..Oculodentodigital Dysplasia, Autosomal Recessive (C567605)
..Oculootofacial Dysplasia (C563682)
..Orbital Margin, Hypoplasia of (C563490)
..Orofaciodigital Syndromes (D009958) 14
..Oto-Palato-digital syndrome type 1 (C536065)
..Oto-palato-digital syndrome, type 2 (C538089)
..Otocephaly (C562503)
..Otofacioosseous-Gonadal Syndrome (C566597)
..Otopalatodigital Spectrum Disorder (C567577)
..Pallister W syndrome (C538106)
..Pashayan syndrome (C536303)
..Pitt-Hopkins-Like Syndrome 1 (C567657)
..Plagiocephaly (D059041) 66
..Platybasia (D010985) 1
..Pointer syndrome (C536323)
..Potato nose (C538354)
..Preauricular Fistulae, Congenital (C563015)
..Prieto X-linked mental retardation syndrome (C535274)
..Pseudoaminopterin syndrome (C535823)
..Reardon Hall Slaney syndrome (C535294)
..Riddle Syndrome (C567453)
..Roberts Syndrome (C535687)
..Robinow Syndrome, Autosomal Dominant (C562492)
..Rommen Mueller Sybert syndrome (C535871)
..Rozin Hertz Goodman syndrome (C535876)
..Rubinstein-Taybi Syndrome (D012415) 2
..Say Meyer syndrome (C536620)
..SCARF syndrome (C536625)
..Schaefer Stein Oshman syndrome (C536627)
..Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias (C563509)
..Schinzel-Giedion syndrome (C536632)
..Schwartz-Lelek syndrome (C537519)
..Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
..Seaver Cassidy syndrome (C537529)
..Seckel like syndrome type Buebel (C537532)
..Sener syndrome (C537579)
..Short Stature And Facioauriculothoracic Malformations (C566457)
..Short Stature-Obesity Syndrome (C564821)
..Silver-Russell Syndrome (D056730) 1
..Simosa cranio facial syndrome (C537339)
..Sonoda syndrome (C536680)
..Splenogonadal fusion limb defects micrognatia (C537318)
..Spondyloepimetaphyseal Dysplasia, Aggrecan Type (C567558)
..Spondyloocular Syndrome, Autosomal Recessive (C565285)
..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..Teebi Shaltout syndrome (C536950)
..Teebi syndrome (C536951)
..Telecanthus (C562941)
..Temtamy syndrome (C536959)
..Ter Haar syndrome (C537274)
..Tetrasomy X (C536502)
..Tollner Horst Manzke syndrome (C536964)
..Tricho-dento-osseous syndrome (C536549)
..TRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..Urioste Martinez-Frias syndrome (C536478)
..Van Bogaert-Hozay syndrome (C536526)
..Van Buchem disease type 2 (C536527)
..Van Maldergem Wetzburger Verloes syndrome (C536530)
..Vertebral body fusion overgrowth (C536543)
..Viljoen Kallis Voges syndrome (C536349)
..Weaver syndrome (C536687)
..Weaver-Like Syndrome (C562443)
..Wiedemann Grosse Dibbern syndrome (C536704)
..Winter Shortland Temple syndrome (C536735)
..Zimmerman Laband syndrome (C536725)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1961

Name:

Cerebrofrontofacial Syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D000015|MESH:D019465

TreeNumbers:

C05.660.207/C563904 |C16.131.077/C563904 |C16.131.621.207/C563904

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C563904
MeSH: C563904
OMIM: 608578;

Genes:

Phenotypes

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001101.3(ACTB):c.1090G>A (p.Glu364Lys)	60	ACTB	Pathogenic	368352689	RCV000202367;	N	MedGen:C1855722,OMIM:243310,OMIM:608578	7	5567417	5567417	NM_001101.3:c.1090G>A	NP_001092.1:p.Glu364Lys	NC_000007.13:g.5567417C>T	-	C1855722 243310 Baraitser-Winter syndrome 1; C1855722 608578 Baraitser-Winter syndrome 1
NM_001101.3(ACTB):c.625G>A (p.Val209Met)	60	ACTB	Likely pathogenic;Pathogenic	587779777	RCV000116222;	N	MedGen:C1855722,OMIM:243310,OMIM:608578	7	5568089	5568089	NM_001101.3:c.625G>A	NP_001092.1:p.Val209Met	NC_000007.13:g.5568089C>T	-	C1855722 608578 Baraitser-Winter syndrome 1; C1855722 243310 Baraitser-Winter syndrome 1
NM_001101.3(ACTB):c.611C>G (p.Ala204Gly)	60	ACTB	Pathogenic	587779776	RCV000133574;	N	MedGen:C1855722,OMIM:243310,OMIM:608578	7	5568103	5568103	NM_001101.3:c.611C>G	NP_001092.1:p.Ala204Gly	NC_000007.13:g.5568103G>C	-	C1855722 243310 Baraitser-Winter syndrome 1; C1855722 608578 Baraitser-Winter syndrome 1
NM_001101.3(ACTB):c.587G>A (p.Arg196His)	60	ACTB	Pathogenic	281875334	RCV000022439; RCV000059721;	N	MedGen:C1855722,OMIM:243310,OMIM:608578; MedGen:CN221809	7	5568127	5568127	NM_001101.3:c.587G>A	NP_001092.1:p.Arg196His	NC_000007.13:g.5568127C>T	OMIM Allelic Variant:102630.0002,UniProtKB (variants):VAR_067813	C1855722 608578 Baraitser-Winter syndrome 1; C1855722 243310 Baraitser-Winter syndrome 1; CN221809 not provided
NM_001101.3(ACTB):c.586C>T (p.Arg196Cys)	60	ACTB	Pathogenic	281875333	RCV000022440; RCV000059720;	N	MedGen:C1855722,OMIM:243310,OMIM:608578; MedGen:CN221809	7	5568128	5568128	NM_001101.3:c.586C>T	NP_001092.1:p.Arg196Cys	NC_000007.13:g.5568128G>A,NC_000007.13:g.5568128G>T	OMIM Allelic Variant:102630.0003,UniProtKB (variants):VAR_067812	C1855722 243310 Baraitser-Winter syndrome 1; C1855722 608578 Baraitser-Winter syndrome 1; CN221809 not provided
NM_001101.3(ACTB):c.586C>A (p.Arg196Ser)	60	ACTB	Pathogenic	281875333	RCV000133573;	N	MedGen:C1855722,OMIM:243310,OMIM:608578	7	5568128	5568128	NM_001101.3:c.586C>A	NP_001092.1:p.Arg196Ser	NC_000007.13:g.5568128G>A,NC_000007.13:g.5568128G>T	-	C1855722 243310 Baraitser-Winter syndrome 1; C1855722 608578 Baraitser-Winter syndrome 1
NM_001101.3(ACTB):c.446C>T (p.Thr149Ile)	60	ACTB	Pathogenic	587779775	RCV000133572;	N	MedGen:C1855722,OMIM:243310,OMIM:608578	7	5568268	5568268	NM_001101.3:c.446C>T	NP_001092.1:p.Thr149Ile	NC_000007.13:g.5568268G>A	-	C1855722 243310 Baraitser-Winter syndrome 1; C1855722 608578 Baraitser-Winter syndrome 1
NM_001101.3(ACTB):c.359C>T (p.Thr120Ile)	60	ACTB	Pathogenic	587779774	RCV000133571;	N	MedGen:C1855722,OMIM:243310,OMIM:608578	7	5568796	5568796	NM_001101.3:c.359C>T	NP_001092.1:p.Thr120Ile	NC_000007.13:g.5568796G>A	OMIM Allelic Variant:102630.0007	C1855722 243310 Baraitser-Winter syndrome 1; C1855722 608578 Baraitser-Winter syndrome 1
NM_001101.3(ACTB):c.356T>C (p.Met119Thr)	60	ACTB	Pathogenic	587779773	RCV000133570;	N	MedGen:C1855722,OMIM:243310,OMIM:608578	7	5568799	5568799	NM_001101.3:c.356T>C	NP_001092.1:p.Met119Thr	NC_000007.13:g.5568799A>G	-	C1855722 608578 Baraitser-Winter syndrome 1; C1855722 243310 Baraitser-Winter syndrome 1
NM_001101.3(ACTB):c.349G>A (p.Glu117Lys)	60	ACTB	Pathogenic	397515470	RCV000056289;	N	MedGen:C1855722,OMIM:243310,OMIM:608578	7	5568806	5568806	NM_001101.3:c.349G>A	NP_001092.1:p.Glu117Lys	NC_000007.13:g.5568806C>T	OMIM Allelic Variant:102630.0006	C1855722 608578 Baraitser-Winter syndrome 1; C1855722 243310 Baraitser-Winter syndrome 1
NM_001101.3(ACTB):c.307G>C (p.Val103Leu)	60	ACTB	Pathogenic	587779772	RCV000133568;	N	MedGen:C1855722,OMIM:243310,OMIM:608578	7	5568848	5568848	NM_001101.3:c.307G>C	NP_001092.1:p.Val103Leu	NC_000007.13:g.5568848C>G	-	C1855722 243310 Baraitser-Winter syndrome 1; C1855722 608578 Baraitser-Winter syndrome 1
NM_001101.3(ACTB):c.224T>C (p.Ile75Thr)	60	ACTB	Pathogenic	587779771	RCV000133567;	N	MedGen:C1855722,OMIM:243310,OMIM:608578	7	5568931	5568931	NM_001101.3:c.224T>C	NP_001092.1:p.Ile75Thr	NC_000007.13:g.5568931A>G	-	C1855722 608578 Baraitser-Winter syndrome 1; C1855722 243310 Baraitser-Winter syndrome 1
NM_001101.3(ACTB):c.220G>A (p.Gly74Ser)	60	ACTB	Pathogenic	587779770	RCV000133566;	N	MedGen:C1855722,OMIM:243310,OMIM:608578	7	5568935	5568935	NM_001101.3:c.220G>A	NP_001092.1:p.Gly74Ser	NC_000007.13:g.5568935C>T	-	C1855722 243310 Baraitser-Winter syndrome 1; C1855722 608578 Baraitser-Winter syndrome 1
NM_001101.3(ACTB):c.209C>T (p.Pro70Leu)	60	ACTB	Pathogenic	587779769	RCV000133565;	N	MedGen:C1855722,OMIM:243310,OMIM:608578	7	5568946	5568946	NM_001101.3:c.209C>T	NP_001092.1:p.Pro70Leu	NC_000007.13:g.5568946G>A	-	C1855722 243310 Baraitser-Winter syndrome 1; C1855722 608578 Baraitser-Winter syndrome 1
NM_001101.3(ACTB):c.193C>G (p.Leu65Val)	60	ACTB	Pathogenic	281875332	RCV000022441; RCV000059718;	N	MedGen:C1855722,OMIM:243310,OMIM:608578; MedGen:CN221809	7	5568962	5568962	NM_001101.3:c.193C>G	NP_001092.1:p.Leu65Val	NC_000007.13:g.5568962G>A,NC_000007.13:g.5568962G>C	OMIM Allelic Variant:102630.0004,UniProtKB (variants):VAR_067811	C1855722 608578 Baraitser-Winter syndrome 1; C1855722 243310 Baraitser-Winter syndrome 1; CN221809 not provided
NM_001101.3(ACTB):c.193C>T (p.Leu65Phe)	60	ACTB	Pathogenic	281875332	RCV000133564;	N	MedGen:C1855722,OMIM:243310,OMIM:608578	7	5568962	5568962	NM_001101.3:c.193C>T	NP_001092.1:p.Leu65Phe	NC_000007.13:g.5568962G>A,NC_000007.13:g.5568962G>C	-	C1855722 608578 Baraitser-Winter syndrome 1; C1855722 243310 Baraitser-Winter syndrome 1
NM_001101.3(ACTB):c.123+1G>A	60	ACTB	Uncertain significance	794729643	RCV000185550;	N	MedGen:C1855722,OMIM:243310,OMIM:608578	7	5569165	5569165	NM_001101.3:c.123+1G>A		NC_000007.13:g.5569165C>T	-	C1855722 608578 Baraitser-Winter syndrome 1; C1855722 243310 Baraitser-Winter syndrome 1
NM_001101.3(ACTB):c.64G>A (p.Ala22Thr)	60	ACTB	Likely pathogenic	587780273	RCV000116223;	N	MedGen:C1855722,OMIM:243310,OMIM:608578	7	5569225	5569225	NM_001101.3:c.64G>A	NP_001092.1:p.Ala22Thr	NC_000007.13:g.5569225C>T	-	C1855722 608578 Baraitser-Winter syndrome 1; C1855722 243310 Baraitser-Winter syndrome 1
NM_001101.3(ACTB):c.34A>G (p.Asn12Asp)	60	ACTB	Pathogenic	281875331	RCV000022442; RCV000059719;	N	MedGen:C1855722,OMIM:243310,OMIM:608578; MedGen:CN221809	7	5569255	5569255	NM_001101.3:c.34A>G	NP_001092.1:p.Asn12Asp	NC_000007.13:g.5569255T>C,NC_000007.13:g.5569255T>G	OMIM Allelic Variant:102630.0005,UniProtKB (variants):VAR_067810	C1855722 608578 Baraitser-Winter syndrome 1; C1855722 243310 Baraitser-Winter syndrome 1; CN221809 not provided
NM_001101.3(ACTB):c.34A>C (p.Asn12His)	60	ACTB	Pathogenic	281875331	RCV000133569;	N	MedGen:C1855722,OMIM:243310,OMIM:608578	7	5569255	5569255	NM_001101.3:c.34A>C	NP_001092.1:p.Asn12His	NC_000007.13:g.5569255T>C,NC_000007.13:g.5569255T>G	-	C1855722 608578 Baraitser-Winter syndrome 1; C1855722 243310 Baraitser-Winter syndrome 1