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Ontology Browser

Term:
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (DOID:0060816)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Aarskog syndrome +   
acrocallosal syndrome +   
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
agenesis of the corpus callosum with peripheral neuropathy  
Aicardi syndrome 
Alsing Syndrome 
Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma 
Arima Syndrome 
Armfield syndrome 
Arts syndrome  
Baetz-Greenwalt syndrome 
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Ben Ari Shuper Mimouni Syndrome 
Biemond Syndrome II 
Bird Headed Dwarfism Montreal Type 
Borjeson-Forssman-Lehmann syndrome  
Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 
Calloso-Genital Dysplasia 
CAMFAK Syndrome 
cerebral cavernous malformation 2  
cerebral cavernous malformation 3  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
cerebrocostomandibular syndrome  
Christianson syndrome  
Chudley-Mccullough syndrome  
Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia 
COACH Syndrome  
Coffin-Siris syndrome +   
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Coloboma of Macula and Skeletal Anomalies 
Coloboma of Macula Type B Brachydactyly 
coloboma of optic nerve  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
Combined Oxidative Phosphorylation Deficiency 2  
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome  
A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. (DO)
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Corpus Callosum, Partial Agenesis of, X-Linked  
Crumpled Helices and Small Mouth 
Curatolo Cilio Pessagno Syndrome 
deafness-intellectual disability, Martin-Probst type syndrome  
Donnai-Barrow syndrome  
Duker Weiss Siber syndrome 
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 
Faye-Petersen Ward Carey Syndrome 
FG syndrome  
Genito Palato Cardiac Syndrome 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Hereditary Macular Coloboma  
Hittner Hirsch Kreh Syndrome 
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 
Isolated Microphthalmia with Coloboma +   
Kahrizi syndrome  
Kozlowski Ouvrier Syndrome 
Lissencephaly and Agenesis of Corpus Callosum  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Marles Greenberg Persaud Syndrome  
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 
MEHMO syndrome  
Meier-Gorlin syndrome +   
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED  
Mental Retardation, X-Linked, Syndromic 33  
Mental Retardation, X-Linked, Syndromic, Bain Type  
Mental Retardation, X-Linked, Syndromic, Ube2a-Related 
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microphthalmia and Mental Deficiency 
Microphthalmia Associated with Colobomatous Cyst 
Microphthalmia, Cataracts, and Iris Abnormalities  
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME  
Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 
Miles-Carpenter syndrome  
Milner Khallouf Gibson Syndrome 
Multiple Epiphyseal Dysplasia with Robin Phenotype 
Nakamura Osame syndrome 
Nasopalpebral Lipoma Coloboma Syndrome  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
Otodental Dysplasia 
Paganini-Miozzo Syndrome  
Partial Agenesis of Corpus Callosum  
Partington syndrome  
Pfeiffer Mayer Syndrome 
postaxial acrofacial dysostosis  
Prieto syndrome 
Proud Syndrome  
Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum 
renal coloboma syndrome  
Renpenning syndrome  
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome  
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Saal Bulas Syndrome 
Sakoda Complex 
Schimke X-Linked Mental Retardation Syndrome 
Schweitzer Kemink Graham Syndrome 
Shapiro Syndrome 
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY  
split hand-foot malformation 3  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
syndromic X-linked intellectual disability 12 
syndromic X-linked intellectual disability 14  
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 34  
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability 7 
syndromic X-linked intellectual disability 94  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Chudley-Schwartz type 
syndromic X-linked intellectual disability Claes-Jensen type  
syndromic X-linked intellectual disability Hedera type  
syndromic X-linked intellectual disability Lubs type  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Nascimento type  
syndromic X-linked intellectual disability Raymond type  
syndromic X-linked intellectual disability Shashi type  
syndromic X-linked intellectual disability Shrimpton type 
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Snyder type  
syndromic X-linked intellectual disability Turner type  
syndromic X-linked intellectual disability type 10  
syndromic X-linked mental retardation 35  
Syndromic X-linked Mental Retardation 36  
syndromic X-linked mental retardation Hough type  
Temtamy Syndrome  
Thrombocytopenia Robin Sequence 
Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
uveal coloboma-cleft lip and palate-intellectual disability  
Van Esch-O'Driscoll Syndrome  
Vici syndrome  
Wilson-Turner syndrome  
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome  
X-linked intellectual disability-psychosis-macroorchidism syndrome  
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance  
Yim Ebbin Syndrome 
Yunis-Varon syndrome  
Zunich Neuroectodermal Syndrome  

Synonyms
Exact Synonyms: Graham-Cox syndrome ;   MENTAL RETARDATION, X-LINKED, SYNDROMIC 28 ;   MRXS28 ;   corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
Primary IDs: MESH:C564509 ;   RDO:0013451
Alternate IDs: OMIM:300472
Xrefs: ORDO:52055
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/14556245

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.