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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Craniofacial Abnormalities
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Accession:DOID:9008731 term browser browse the term
Definition:Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
Synonyms:exact_synonym: Craniofacial Abnormality
 primary_id: MESH:D019465;   RDO:0000261

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    Path 1
    Term Annotations click to browse term
      disease 16465
        disease of anatomical entity 14116
          musculoskeletal system disease 7377
            Musculoskeletal Abnormalities 3132
              Craniofacial Abnormalities 2528
                22q11 Deletion Syndrome + 87
                3MC syndrome + 17
                AMME complex 0
                Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
                Alazami Syndrome 2
                Alazami-Yuan Syndrome 3
                Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 0
                Arthrogryposis Multiplex Congenita Whistling Face 0
                Asymmetric Short Stature Syndrome 0
                Au-Kline Syndrome 5
                Axenfeld-Rieger syndrome type 1 11
                B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 1
                Baker Vinters Syndrome 0
                Baraitser-Winter syndrome + 2
                Birk-Barel syndrome 2
                Blepharochalasis and Double Lip 0
                Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 0
                Brachymesomelia Renal Syndrome 0
                Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 1
                Brachytelephalangy Characteristic Facies Kallmann 0
                Branchial Cleft Anomalies 0
                CEBALID Syndrome 2
                CHITAYAT SYNDROME 1
                CODAS syndrome 1
                CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 1
                Calvarial Hyperostosis + 1
                Camptodactyly Syndrome Guadalajara Type 2 0
                Cardioacrofacial Dysplasia + 2
                Cerebellar, Ocular, Craniofacial, and Genital Syndrome 2
                Cerebrooculonasal Syndrome 0
                Chromosome 18 Pericentric Inversion 0
                Chromosome Xq28 Duplication Syndrome 0
                Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 0
                Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 1
                Cleidocranial Dysplasia 2 1
                Congenital Cataracts, Facial Dysmorphism, and Neuropathy 2
                Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency + 4
                Costello syndrome 9
                Cousin Syndrome 1
                Cranioacrofacial Syndrome 0
                Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
                Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 1
                Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 0
                Craniofacial Dyssynostosis 0
                Craniofacioskeletal Syndrome 0
                Craniomicromelic Syndrome 0
                Craniorhiny 0
                Curly Hair-Acral Keratoderma-Caries Syndrome 0
                DNA ligase IV deficiency 1
                DOORS syndrome 1
                DeSanto-Shinawi syndrome 1
                Desbuquois dysplasia + 7
                Diaphanospondylodysostosis 1
                Donohue syndrome 1
                ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES 1
                EVEN-PLUS SYNDROME 1
                Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 1
                Erosive Arthropathy 0
                FG Syndrome 5 0
                Facial Dysmorphism with Multiple Malformations + 4
                Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 0
                Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome 1
                Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
                Faciocardiomelic Syndrome 0
                Floating-Harbor syndrome 1
                Forebrain Defects 1
                Fountain Syndrome 0
                Fraser-Like Syndrome 0
                Fronto-Facio-Nasal Dysplasia 0
                Frontoocular Syndrome 0
                Frontootopalatodigital Osteodysplasia 0
                Game Friedman Paradice Syndrome 0
                Genitopatellar Syndrome 17
                Goldberg-Shprintzen syndrome 51
                Gomez Lopez Hernandez Syndrome 0
                Gorlin Chaudhry Moss Syndrome 0
                Gracile Bone Dysplasia 1
                Grant Syndrome 0
                Hall Riggs Mental Retardation Syndrome 0
                Hanhart Syndrome 0
                Harrod Doman Keele Syndrome 0
                Haspeslagh Fryns Muelenaere Syndrome 0
                Hecht Scott Syndrome 0
                Hengel-Maroofian-Schols syndrome 1
                Hennekam syndrome + 3
                Humeroradial Synostosis with Craniofacial Anomalies 0
                Hypertelorism + 46
                Ichthyosis Cheek Eyebrow Syndrome 0
                Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis 2
                Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
                Jequier Kozlowski Skeletal Dysplasia 0
                Jones Hersh Yusk Syndrome 0
                Juberg Hayward Syndrome 9
                Kapur Toriello Syndrome 1
                Keppen-Lubinsky Syndrome 1
                Kleefstra syndrome + 102
                Klippel-Feil syndrome 4 1
                Kosztolanyi Syndrome 0
                Larsen-like syndrome B3GAT3 type 12
                Leichtman Wood Rohn Syndrome 0
                Loeys-Dietz syndrome + 38
                Macrocephaly + 81
                Mandibuloacral Dysplasia Progeroid Syndrome 1
                Mandibulofacial Dysostosis Syndrome, Bauru Type 0
                Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 0
                Marshall syndrome + 4
                Marshall-Smith syndrome 7
                Maxillofacial Abnormalities + 301
                Menke-Hennekam Syndrome + 2
                Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 1
                Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 0
                Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 0
                Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 0
                Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 2
                Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 0
                Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 0
                Morillo-Cucci Passarge Syndrome 0
                Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 0
                Mullegama-Klein-Martinez syndrome 2
                Multisystem Autoimmune Disease with Facial Dysmorphism 2
                Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 0
                NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM 1
                NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES 1
                NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES 2
                Nablus Mask-Like Facial Syndrome 0
                Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects 1
                Neurofaciodigitorenal Syndrome 0
                Noonan syndrome + 54
                Noonan syndrome with multiple lentigines + 9
                Oculoauriculofrontonasal Syndrome 0
                Oculocerebral Hypopigmentation Syndrome Type Preus 0
                Oculootofacial Dysplasia + 15
                Orbital Margin, Hypoplasia of 0
                Otofacioosseous-Gonadal Syndrome 0
                Pallister W Syndrome 0
                Pashayan Syndrome 0
                Plagiocephaly + 4
                Platybasia + 0
                Pointer Syndrome 0
                Posterior Exchondrosis of Pinna 0
                Potato Nose 0
                Preauricular Fistulae, Congenital 0
                Prieto syndrome 1
                Pseudoaminopterin Syndrome 0
                Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 1
                Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies 1
                Reardon Hall Slaney syndrome 0
                Riddle syndrome 1
                Ritscher-Schinzel syndrome + 4
                Roberts syndrome 1
                Robinow syndrome + 9
                Rommen Mueller Sybert Syndrome 0
                Rozin Hertz Goodman Syndrome 0
                Rubinstein-Taybi syndrome + 52
                SCARF Syndrome 0
                SHORT STATURE-MICROGNATHIA SYNDROME 1
                Say Meyer Syndrome 1
                Schaaf-Yang syndrome 3
                Schaefer Stein Oshman Syndrome 0
                Schilbach-Rott Syndrome 0
                Schinzel Giedion syndrome 1
                Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 2
                Seaver Cassidy Syndrome 0
                Seckel Like Syndrome Type Buebel 0
                Sener Syndrome 0
                Short Stature and Facioauriculothoracic Malformations 0
                Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies + 2
                Short Stature-Obesity Syndrome 0
                Silver-Russell syndrome + 8
                Simosa Cranio Facial Syndrome 0
                Smith-Kingsmore Syndrome 3
                Sonoda Syndrome 0
                Splenogonadal Fusion with Limb Defects and Micrognathia 0
                Spondyloepimetaphyseal Dysplasia, Aggrecan Type 1
                Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
                Spondyloocular Syndrome, Autosomal Recessive 1
                Sweeney-Cox syndrome 1
                Teebi Shaltout Syndrome 0
                Teebi hypertelorism syndrome + 3
                Telecanthus + 4
                Temtamy syndrome 56
                Tessadori-van Haaften Neurodevelopmental Syndrome 2 1
                Tetrasomy X 0
                Tollner Horst Manzke Syndrome 0
                Urioste Martinez-Frias Syndrome 0
                Van Bogaert-Hozay Syndrome 0
                Van Maldergem syndrome + 2
                Verheij Syndrome 1
                Vertebral Body Fusion Overgrowth 0
                Viljoen Kallis Voges Syndrome 0
                WEISS-KRUSZKA SYNDROME 1
                Weaver syndrome 5
                White-Sutton syndrome 3
                Wiedemann Grosse Dibbern Syndrome 0
                Winter Shortland Temple Syndrome 1
                Worth syndrome 1
                Zimmerman Laband Syndrome + 3
                cerebrooculofacioskeletal syndrome 2 2
                cerebrooculofacioskeletal syndrome 4 2
                chromosome 13q14 deletion syndrome 71
                chromosome 17q11.2 deletion syndrome 1
                chromosome 2p16.1-p15 deletion syndrome 1
                chromosome 2q31.2 deletion syndrome 0
                chromosome 8q21.11 deletion syndrome 0
                cleidocranial dysplasia + 7
                combined oxidative phosphorylation deficiency 2 1
                congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1
                congenital limbs-face contractures-hypotonia-developmental delay syndrome 1
                craniodiaphyseal dysplasia + 3
                craniofacial-deafness-hand syndrome 1
                craniofrontonasal syndrome 4
                craniolenticulosutural dysplasia 1
                craniosynostosis + 295
                diphthamide deficiency syndrome 1 1
                distal arthrogryposis type 6 0
                fetal encasement syndrome 1
                frontonasal dysplasia + 6
                geleophysic dysplasia + 3
                holoprosencephaly + 191
                hypotonia-cystinuria syndrome 4
                immunodeficiency-centromeric instability-facial anomalies syndrome + 10
                linear skin defects with multiple congenital anomalies 2 1
                mandibuloacral dysplasia type B lipodystrophy 1
                microcephaly + 1105
                midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 3
                oculodentodigital dysplasia + 2
                orofaciodigital syndrome + 29
                otopalatodigital syndrome spectrum disorder + 11
                syndromic X-linked intellectual disability Abidi type 0
                syndromic X-linked intellectual disorder Lujan-Fryns-type 1
                trichodontoosseous syndrome 44
    Path 2
    Term Annotations click to browse term
      disease 16465
        Developmental Disease 16381
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
            Congenital Abnormalities 7058
              Musculoskeletal Abnormalities 3132
                Craniofacial Abnormalities 2528
                  22q11 Deletion Syndrome + 87
                  3MC syndrome + 17
                  AMME complex 0
                  Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
                  Alazami Syndrome 2
                  Alazami-Yuan Syndrome 3
                  Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 0
                  Arthrogryposis Multiplex Congenita Whistling Face 0
                  Asymmetric Short Stature Syndrome 0
                  Au-Kline Syndrome 5
                  Axenfeld-Rieger syndrome type 1 11
                  B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 1
                  Baker Vinters Syndrome 0
                  Baraitser-Winter syndrome + 2
                  Birk-Barel syndrome 2
                  Blepharochalasis and Double Lip 0
                  Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 0
                  Brachymesomelia Renal Syndrome 0
                  Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 1
                  Brachytelephalangy Characteristic Facies Kallmann 0
                  Branchial Cleft Anomalies 0
                  CEBALID Syndrome 2
                  CHITAYAT SYNDROME 1
                  CODAS syndrome 1
                  CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 1
                  Calvarial Hyperostosis + 1
                  Camptodactyly Syndrome Guadalajara Type 2 0
                  Cardioacrofacial Dysplasia + 2
                  Cerebellar, Ocular, Craniofacial, and Genital Syndrome 2
                  Cerebrooculonasal Syndrome 0
                  Chromosome 18 Pericentric Inversion 0
                  Chromosome Xq28 Duplication Syndrome 0
                  Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 0
                  Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 1
                  Cleidocranial Dysplasia 2 1
                  Congenital Cataracts, Facial Dysmorphism, and Neuropathy 2
                  Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency + 4
                  Costello syndrome 9
                  Cousin Syndrome 1
                  Cranioacrofacial Syndrome 0
                  Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
                  Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 1
                  Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 0
                  Craniofacial Dyssynostosis 0
                  Craniofacioskeletal Syndrome 0
                  Craniomicromelic Syndrome 0
                  Craniorhiny 0
                  Curly Hair-Acral Keratoderma-Caries Syndrome 0
                  DNA ligase IV deficiency 1
                  DOORS syndrome 1
                  DeSanto-Shinawi syndrome 1
                  Desbuquois dysplasia + 7
                  Diaphanospondylodysostosis 1
                  Donohue syndrome 1
                  ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES 1
                  EVEN-PLUS SYNDROME 1
                  Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 1
                  Erosive Arthropathy 0
                  FG Syndrome 5 0
                  Facial Dysmorphism with Multiple Malformations + 4
                  Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 0
                  Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome 1
                  Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
                  Faciocardiomelic Syndrome 0
                  Floating-Harbor syndrome 1
                  Forebrain Defects 1
                  Fountain Syndrome 0
                  Fraser-Like Syndrome 0
                  Fronto-Facio-Nasal Dysplasia 0
                  Frontoocular Syndrome 0
                  Frontootopalatodigital Osteodysplasia 0
                  Game Friedman Paradice Syndrome 0
                  Genitopatellar Syndrome 17
                  Goldberg-Shprintzen syndrome 51
                  Gomez Lopez Hernandez Syndrome 0
                  Gorlin Chaudhry Moss Syndrome 0
                  Gracile Bone Dysplasia 1
                  Grant Syndrome 0
                  Hall Riggs Mental Retardation Syndrome 0
                  Hanhart Syndrome 0
                  Harrod Doman Keele Syndrome 0
                  Haspeslagh Fryns Muelenaere Syndrome 0
                  Hecht Scott Syndrome 0
                  Hengel-Maroofian-Schols syndrome 1
                  Hennekam syndrome + 3
                  Humeroradial Synostosis with Craniofacial Anomalies 0
                  Hypertelorism + 46
                  Ichthyosis Cheek Eyebrow Syndrome 0
                  Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis 2
                  Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
                  Jequier Kozlowski Skeletal Dysplasia 0
                  Jones Hersh Yusk Syndrome 0
                  Juberg Hayward Syndrome 9
                  Kapur Toriello Syndrome 1
                  Keppen-Lubinsky Syndrome 1
                  Kleefstra syndrome + 102
                  Klippel-Feil syndrome 4 1
                  Kosztolanyi Syndrome 0
                  Larsen-like syndrome B3GAT3 type 12
                  Leichtman Wood Rohn Syndrome 0
                  Loeys-Dietz syndrome + 38
                  Macrocephaly + 81
                  Mandibuloacral Dysplasia Progeroid Syndrome 1
                  Mandibulofacial Dysostosis Syndrome, Bauru Type 0
                  Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 0
                  Marshall syndrome + 4
                  Marshall-Smith syndrome 7
                  Maxillofacial Abnormalities + 301
                  Menke-Hennekam Syndrome + 2
                  Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 1
                  Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 0
                  Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 0
                  Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 0
                  Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 2
                  Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 0
                  Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 0
                  Morillo-Cucci Passarge Syndrome 0
                  Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 0
                  Mullegama-Klein-Martinez syndrome 2
                  Multisystem Autoimmune Disease with Facial Dysmorphism 2
                  Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 0
                  NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM 1
                  NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES 1
                  NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES 2
                  Nablus Mask-Like Facial Syndrome 0
                  Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects 1
                  Neurofaciodigitorenal Syndrome 0
                  Noonan syndrome + 54
                  Noonan syndrome with multiple lentigines + 9
                  Oculoauriculofrontonasal Syndrome 0
                  Oculocerebral Hypopigmentation Syndrome Type Preus 0
                  Oculootofacial Dysplasia + 15
                  Orbital Margin, Hypoplasia of 0
                  Otofacioosseous-Gonadal Syndrome 0
                  Pallister W Syndrome 0
                  Pashayan Syndrome 0
                  Plagiocephaly + 4
                  Platybasia + 0
                  Pointer Syndrome 0
                  Posterior Exchondrosis of Pinna 0
                  Potato Nose 0
                  Preauricular Fistulae, Congenital 0
                  Prieto syndrome 1
                  Pseudoaminopterin Syndrome 0
                  Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 1
                  Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies 1
                  Reardon Hall Slaney syndrome 0
                  Riddle syndrome 1
                  Ritscher-Schinzel syndrome + 4
                  Roberts syndrome 1
                  Robinow syndrome + 9
                  Rommen Mueller Sybert Syndrome 0
                  Rozin Hertz Goodman Syndrome 0
                  Rubinstein-Taybi syndrome + 52
                  SCARF Syndrome 0
                  SHORT STATURE-MICROGNATHIA SYNDROME 1
                  Say Meyer Syndrome 1
                  Schaaf-Yang syndrome 3
                  Schaefer Stein Oshman Syndrome 0
                  Schilbach-Rott Syndrome 0
                  Schinzel Giedion syndrome 1
                  Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 2
                  Seaver Cassidy Syndrome 0
                  Seckel Like Syndrome Type Buebel 0
                  Sener Syndrome 0
                  Short Stature and Facioauriculothoracic Malformations 0
                  Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies + 2
                  Short Stature-Obesity Syndrome 0
                  Silver-Russell syndrome + 8
                  Simosa Cranio Facial Syndrome 0
                  Smith-Kingsmore Syndrome 3
                  Sonoda Syndrome 0
                  Splenogonadal Fusion with Limb Defects and Micrognathia 0
                  Spondyloepimetaphyseal Dysplasia, Aggrecan Type 1
                  Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
                  Spondyloocular Syndrome, Autosomal Recessive 1
                  Sweeney-Cox syndrome 1
                  Teebi Shaltout Syndrome 0
                  Teebi hypertelorism syndrome + 3
                  Telecanthus + 4
                  Temtamy syndrome 56
                  Tessadori-van Haaften Neurodevelopmental Syndrome 2 1
                  Tetrasomy X 0
                  Tollner Horst Manzke Syndrome 0
                  Urioste Martinez-Frias Syndrome 0
                  Van Bogaert-Hozay Syndrome 0
                  Van Maldergem syndrome + 2
                  Verheij Syndrome 1
                  Vertebral Body Fusion Overgrowth 0
                  Viljoen Kallis Voges Syndrome 0
                  WEISS-KRUSZKA SYNDROME 1
                  Weaver syndrome 5
                  White-Sutton syndrome 3
                  Wiedemann Grosse Dibbern Syndrome 0
                  Winter Shortland Temple Syndrome 1
                  Worth syndrome 1
                  Zimmerman Laband Syndrome + 3
                  cerebrooculofacioskeletal syndrome 2 2
                  cerebrooculofacioskeletal syndrome 4 2
                  chromosome 13q14 deletion syndrome 71
                  chromosome 17q11.2 deletion syndrome 1
                  chromosome 2p16.1-p15 deletion syndrome 1
                  chromosome 2q31.2 deletion syndrome 0
                  chromosome 8q21.11 deletion syndrome 0
                  cleidocranial dysplasia + 7
                  combined oxidative phosphorylation deficiency 2 1
                  congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1
                  congenital limbs-face contractures-hypotonia-developmental delay syndrome 1
                  craniodiaphyseal dysplasia + 3
                  craniofacial-deafness-hand syndrome 1
                  craniofrontonasal syndrome 4
                  craniolenticulosutural dysplasia 1
                  craniosynostosis + 295
                  diphthamide deficiency syndrome 1 1
                  distal arthrogryposis type 6 0
                  fetal encasement syndrome 1
                  frontonasal dysplasia + 6
                  geleophysic dysplasia + 3
                  holoprosencephaly + 191
                  hypotonia-cystinuria syndrome 4
                  immunodeficiency-centromeric instability-facial anomalies syndrome + 10
                  linear skin defects with multiple congenital anomalies 2 1
                  mandibuloacral dysplasia type B lipodystrophy 1
                  microcephaly + 1105
                  midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 3
                  oculodentodigital dysplasia + 2
                  orofaciodigital syndrome + 29
                  otopalatodigital syndrome spectrum disorder + 11
                  syndromic X-linked intellectual disability Abidi type 0
                  syndromic X-linked intellectual disorder Lujan-Fryns-type 1
                  trichodontoosseous syndrome 44
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