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Ontology Browser
Term:
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (DOID:0060816)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
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  
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 +   
Basilicata-Akhtar syndrome  
Ben Ari Shuper Mimouni Syndrome 
Biemond Syndrome II 
Bird Headed Dwarfism Montreal Type 
Borjeson-Forssman-Lehmann syndrome  
Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 
Braddock Carey Syndrome +   
Calloso-Genital Dysplasia 
CAMFAK Syndrome 
cerebral cavernous malformation 2  
cerebral cavernous malformation 3  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
cerebrocostomandibular syndrome  
CHIME 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 with 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-abnormal genitalia syndrome  
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  
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 
female-restricted syndromic X-linked intellectual disability 99  
FG syndrome +   
Genito Palato Cardiac Syndrome 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Hereditary Macular Coloboma  
hereditary spastic paraplegia 11  
Hittner Hirsch Kreh Syndrome  
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE  
IRIS COLOBOMA  
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, Syndromic, Ube2a-Related 
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microphthalmia and Mental Deficiency 
Microphthalmia Associated with Colobomatous Cyst 
Microphthalmia, Cataracts, and Iris Abnormalities  
Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 
Miles-Carpenter syndrome +   
Milner Khallouf Gibson Syndrome 
Mullegama-Klein-Martinez syndrome  
Multiple Epiphyseal Dysplasia with Robin Phenotype 
Nasopalpebral Lipoma Coloboma Syndrome  
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM  
Otodental Dysplasia 
Paganini-Miozzo syndrome  
Partial Agenesis of Corpus Callosum +   
Partington syndrome  
Pfeiffer Mayer Syndrome 
postaxial acrofacial dysostosis  
Prieto syndrome  
Raynaud-Claes 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, Impaired Intellectual Development, 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 
Stocco Dos Santos type X-linked intellectual disability  
syndromic microphthalmia 14  
syndromic X-linked intellectual developmental disorder Bain type  
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 Pilorge 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 intellectual disorder Lujan-Fryns-type  
Syndromic X-Linked Mental Retardation 33  
syndromic X-linked mental retardation 35  
syndromic X-linked mental retardation Hough type  
Temtamy syndrome  
Tonne-Kalscheuer syndrome  
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 Aarskog syndrome  
X-linked intellectual developmental disorder 108  
X-linked intellectual developmental disorder 109  
X-Linked Intellectual Developmental Disorder 110  
X-Linked Intellectual Developmental Disorder 112  
X-Linked Intellectual Developmental Disorder 113  
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome  
X-linked intellectual disability-psychosis-macroorchidism syndrome  
X-linked intellectual disability-short stature-overweight syndrome  
X-linked mental retardation Gustavson type  
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance  
X-linked mental retardation-hypotonic facies syndrome-1  
Yim Ebbin Syndrome 
Yunis-Varon syndrome  

Synonyms
Exact Synonyms: Graham-Cox syndrome ;   IGBP1-RELATED CONDITION ;   MENTAL RETARDATION, X-LINKED, SYNDROMIC 28 ;   MRXS28 ;   agenesis of corpus callosum with impaired intellectual development, ocular coloboma, and micrognathia ;   agenesis of corpus callosum with mental retardation, ocular coloboma and micrognathia
Primary IDs: MESH:C564509
Alternate IDs: OMIM:300472
Xrefs: ORDO:52055
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/14556245 "DO" "DO"

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