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Term:
Parent Terms Term With Siblings Child Terms
3MC syndrome +     
craniosynostosis +     
Eye Abnormalities +     
3MC syndrome 1  
A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27. (DO)
3MC syndrome 2  
3MC syndrome 3  
ablepharon macrostomia syndrome  
acrocephalosyndactylia +   
aniridia +   
Ankyloblepharon Filiforme Adnatum  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anophthalmia +   
anterior segment dysgenesis +   
Antley-Bixler syndrome +   
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Asymmetric Short Stature Syndrome 
Aurocephalosyndactyly 
Axenfeld-Rieger syndrome +   
Baller-Gerold syndrome  
Baraitser Rodeck Garner syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
Beare-Stevenson cutis gyrata syndrome  
blepharophimosis +   
Blue Diaper Syndrome 
Bohring Syndrome  
brachycephaly, trichomegaly, and developmental delay  
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
Brittle Cornea Syndrome +   
C syndrome  
Calabro Syndrome 
Chemke Oliver Mallek Syndrome 
Choroidal Effusions +  
chromosome 6pter-p24 deletion syndrome 
CODAS syndrome  
Cole-Carpenter syndrome +   
coloboma +   
Colobomatous Macrophthalmia with Microcornea 
Congenital Nephrotic Syndrome with or without Ocular Abnormalities +   
cranioectodermal dysplasia +   
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
craniosynostosis 1  
craniosynostosis 2  
craniosynostosis 3  
craniosynostosis 4  
Craniosynostosis 5  
craniosynostosis 6  
craniosynostosis 7  
Craniosynostosis and Dental Anomalies  
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis with Anomalies of the Cranial Base and Digits 
Craniosynostosis with Ectopia Lentis  
Craniosynostosis with Fibular Aplasia 
Craniosynostosis with Ocular Abnormalities and Hallucal Defects 
Craniosynostosis, Adelaide Type 
Craniosynostosis, Anal Anomalies, and Porokeratosis  
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Craniosynostosis, Philadelphia Type 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Craniotelencephalic Dysplasia 
Crouzon syndrome +   
cryptophthalmia +   
De Hauwere syndrome  
DeSanto-Shinawi syndrome  
Developmental Delay, Language Impairment, and Ocular Abnormalities  
Duane-radial ray syndrome  
Dwarfism Stiff Joint Ocular Abnormalities 
Ectopia Lentis +   
Egg-Shaped Pupil 
exudative vitreoretinopathy +   
FACES Syndrome 
Fine-Lubinsky Syndrome  
foveal hypoplasia 2  
Fronto-Facio-Nasal Dysplasia 
frontonasal dysplasia 2  
Frontoocular Syndrome 
Genoa Syndrome 
Gillessen-Kaesbach-Nishimura Dysplasia  
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Hordnes Engebretsen Knudtson syndrome 
Hunter-McAlpine Syndrome 
hydrophthalmos +   
Iida Kannari Syndrome 
intellectual developmental disorder with ocular anomalies and distinctive facial features  
iridogoniodysgenesis syndrome +   
Jackson-Weiss syndrome  
Joubert syndrome 1  
Joubert Syndrome 2  
Joubert syndrome 9  
Kapur Toriello Syndrome  
Kleeblattschaedel Syndrome 
Loeys-Dietz syndrome +   
Lowry Maclean syndrome 
Maxillofacial Dysostosis 
Mehta Lewis Patton Syndrome 
Microcornea, Glaucoma, and Absent Frontal Sinuses 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
microphthalmia +   
MOMES Syndrome 
Muenke syndrome  
MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND  
Nephrotic Syndrome with Ocular Anomalies 
neurodevelopmental disorder with eye movement abnormalities and ataxia  
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES  
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart  
NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES  
Neuroocular syndrome +   
Nonsyndromic Trigonocephaly +   
oblique facial clefting 1  
oculoauricular syndrome  
Oculoauriculofrontonasal Syndrome 
Oculocerebrocutaneous Syndrome 
oculodentodigital dysplasia +   
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME  
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Pena Shokeir Syndrome Type 2 
Persistence of Pupillary Membrane 
persistent hyperplastic primary vitreous +   
Pfeiffer Tietze Welte Syndrome 
PHACE Association  
Piepkorn Karp Hickok syndrome 
Pierson syndrome  
Plagiocephaly and X-Linked Mental Retardation 
popliteal pterygium syndrome +   
Prepapillary Vascular Loops 
Retinal Dysplasia +   
Rozin Hertz Goodman Syndrome 
Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus 
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development  
Schmid-Fraccaro Syndrome  
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
Shprintzen-Goldberg Craniosynostosis  
Skeletal Dysplasia, San Diego Type 
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 
Stromme syndrome  
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS  
TIMES Syndrome  
torsion dystonia with onset in infancy  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 

Synonyms
Exact Synonyms: 3MC1 ;   MASP1-RELATED CONDITION ;   Michels syndrome ;   craniosynostosis with lid anomalies ;   oculopalatoskeletal syndrome
Primary IDs: MESH:C537738
Alternate IDs: MIM:257920
Xrefs: EFO:1001978
Definition Sources: https://ghr.nlm.nih.gov/condition/3mc-syndrome "DO" "DO", MIM:257920 "DO" "DO"

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