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Term:
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (DOID:9006921)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2) Naked Mole-rat: (2) Green Monkey: (2)
Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
3-methylglutaconic aciduria type 5  
3MC syndrome +   
acrocallosal syndrome +   
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
agenesis of corpus callosum, cardiac, ocular, and genital syndrome  
agenesis of the corpus callosum with peripheral neuropathy  
Aicardi syndrome  
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
AMME complex 
Arthrogryposis Multiplex Congenita Whistling Face 
Asymmetric Short Stature Syndrome 
autosomal dominant cerebellar ataxia +   
autosomal recessive cerebellar ataxia +   
Axenfeld-Rieger syndrome type 1  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations  
Baker Vinters Syndrome 
Baraitser-Winter syndrome +   
Ben Ari Shuper Mimouni Syndrome 
Benign Cerebellar Ataxia with Thermoanalgesia 
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Brachydactyly-Nystagmus-Cerebellar Ataxia 
Brachymesomelia Renal Syndrome 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia  
Brachytelephalangy Characteristic Facies Kallmann 
Braddock Carey Syndrome +   
Branchial Cleft Anomalies  
Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 
Calloso-Genital Dysplasia 
Calvarial Hyperostosis +   
CAMFAK Syndrome 
Camptodactyly Syndrome Guadalajara Type 2 
CAPOS Syndrome  
Cardioacrofacial Dysplasia +   
CEBALID Syndrome  
Cerebellar Ataxia and Ectodermal Dysplasia 
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Neurosensory Deafness 
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA  
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS  
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome  
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
cerebellofaciodental syndrome  
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
Cerebrooculonasal Syndrome 
CHITAYAT SYNDROME  
chromosome 13q14 deletion syndrome  
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 2p16.1-p15 deletion syndrome  
chromosome 2q31.2 deletion syndrome 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome  
Chudley-Mccullough syndrome  
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
Cleidocranial Dysplasia 2  
CODAS syndrome  
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus  
combined oxidative phosphorylation deficiency 2  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
congenital limbs-face contractures-hypotonia-developmental delay syndrome  
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
corpus callosum agenesis-abnormal genitalia syndrome  
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome  
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Costello syndrome  
Cousin Syndrome  
Cranioacrofacial Syndrome 
craniodiaphyseal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 
Craniofacial Dyssynostosis 
craniofacial-deafness-hand syndrome  
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Curatolo Cilio Pessagno Syndrome 
Curly Hair-Acral Keratoderma-Caries Syndrome 
DeSanto-Shinawi syndrome  
Desbuquois dysplasia +   
Diaphanospondylodysostosis  
diphthamide deficiency syndrome 1  
distal arthrogryposis type 6 
DNA ligase IV deficiency  
Donnai-Barrow syndrome  
Donohue syndrome  
DOORS syndrome  
Duker Weiss Siber syndrome 
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES  
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
episodic ataxia type 5  
episodic ataxia type 6  
Erosive Arthropathy 
EVEN-PLUS SYNDROME  
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Faciocardiomelic Syndrome 
familial hemiplegic migraine 1  
Faye-Petersen Ward Carey Syndrome 
fetal encasement syndrome  
FG syndrome +   
FG Syndrome 5 
Floating-Harbor syndrome  
Forebrain Defects  
Fountain Syndrome 
Fraser-Like Syndrome 
Fronto-Facio-Nasal Dysplasia 
frontonasal dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Furukawa Takagi Nakao Syndrome 
Game Friedman Paradice Syndrome 
geleophysic dysplasia +   
Genitopatellar Syndrome  
Gillespie syndrome  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
Gordon Holmes syndrome  
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grant Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hanhart Syndrome 
Harding Ataxia 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hecht Scott Syndrome 
Hengel-Maroofian-Schols syndrome  
Hennekam syndrome +   
hereditary spastic paraplegia 11  
Herrmann Syndrome 
holoprosencephaly +   
Humeroradial Synostosis with Craniofacial Anomalies 
Hypertelorism +   
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
hypomyelinating leukodystrophy 8  
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
ITM2B-related cerebral amyloid angiopathy 2  
Jequier Kozlowski Skeletal Dysplasia 
Jones Hersh Yusk Syndrome 
Juberg Hayward Syndrome  
Kapur Toriello Syndrome  
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
Klippel-Feil syndrome 4  
Kosztolanyi Syndrome 
Kozlowski Ouvrier Syndrome 
Larsen-like syndrome B3GAT3 type  
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 
Leichtman Wood Rohn Syndrome 
linear skin defects with multiple congenital anomalies 2  
Lissencephaly and Agenesis of Corpus Callosum  
Loeys-Dietz syndrome +   
Macrocephaly +   
Mandibuloacral Dysplasia Progeroid Syndrome  
mandibuloacral dysplasia type B lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Marshall syndrome +   
Marshall-Smith syndrome  
Maxillofacial Abnormalities +   
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 
Menke-Hennekam Syndrome +   
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
microcephaly +   
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Mitochondrial Myopathy, and Ataxia  
Morillo-Cucci Passarge Syndrome 
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 
Mullegama-Klein-Martinez syndrome  
Multisystem Autoimmune Disease with Facial Dysmorphism  
Myelocerebellar Disorder  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Myoclonus, Cerebellar Ataxia, and Deafness 
Nablus Mask-Like Facial Syndrome 
Neuhauser Eichner Opitz Syndrome 
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE  
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM  
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects  
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM  
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES  
Neurofaciodigitorenal Syndrome 
Noonan syndrome +   
Noonan syndrome with multiple lentigines +   
Oculoauriculofrontonasal Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculootofacial Dysplasia +   
Orbital Margin, Hypoplasia of 
orofaciodigital syndrome +   
OTOFACIAL NEURODEVELOPMENTAL SYNDROME  
Otofacioosseous-Gonadal Syndrome 
otopalatodigital syndrome spectrum disorder +   
Pallister W Syndrome 
Partial Agenesis of Corpus Callosum +   
Pashayan Syndrome 
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
Posterior Exchondrosis of Pinna 
Potato Nose 
Preauricular Fistulae, Congenital 
Prieto syndrome  
Pseudoaminopterin Syndrome 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Reardon Hall Slaney syndrome 
Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum 
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robinow syndrome +   
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Saal Bulas Syndrome 
Sakoda Complex 
Say Meyer Syndrome  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome 
Schinzel Giedion syndrome  
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities  
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Sener Syndrome 
Shapiro Syndrome 
Short Stature and Facioauriculothoracic Malformations 
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +   
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE-MICROGNATHIA SYNDROME  
Short Stature-Obesity Syndrome 
short-rib thoracic dysplasia 9 with or without polydactyly  
Silver-Russell syndrome +   
Simosa Cranio Facial Syndrome 
Smith-Kingsmore Syndrome  
Sonoda Syndrome 
spastic tetraplegia, thin corpus callosum, and progressive microcephaly  
Splenogonadal Fusion with Limb Defects and Micrognathia 
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondyloocular Syndrome, Autosomal Recessive  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Sweeney-Cox syndrome  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disorder Lujan-Fryns-type  
Teebi hypertelorism syndrome +   
Teebi Shaltout Syndrome 
Telecanthus +   
Temtamy syndrome  
Tessadori-van Haaften Neurodevelopmental Syndrome 2  
Tetrasomy X 
Tollner Horst Manzke Syndrome 
trichodontoosseous syndrome  
Urioste Martinez-Frias Syndrome 
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Vici syndrome  
Viljoen Kallis Voges Syndrome 
Weaver syndrome  
WEISS-KRUSZKA SYNDROME  
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winter Shortland Temple Syndrome  
Worth syndrome  
Zimmerman Laband Syndrome +   

Synonyms
Exact Synonyms: BIRK-FLUSSER SYNDROME ;   CCAFCA ;   FINE-FLUSSER SYNDROME ;   FRMD4A-RELATED CONDITION ;   agenesis of the corpus callosum with facial anomalies and cerebellar ataxia
Primary IDs: MIM:616819

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