Path 1 |
disease |
19141 |
 |
disease of anatomical entity |
18453 |
 |
musculoskeletal system disease |
8463 |
 |
Musculoskeletal Abnormalities |
3456 |
 |
Craniofacial Abnormalities |
2778 |
 |
22q11 Deletion Syndrome + |
95 |
 |
3MC syndrome + |
19 |
 |
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 |
 |
Axenfeld-Rieger syndrome type 1 |
11 |
 |
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations |
2 |
 |
Baker Vinters Syndrome |
0 |
 |
Baraitser-Winter syndrome + |
13 |
 |
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 |
1 |
 |
CEBALID Syndrome |
2 |
 |
CHITAYAT SYNDROME |
1 |
 |
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME |
1 |
 |
CODAS syndrome |
1 |
 |
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA |
2 |
 |
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 |
20 |
 |
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 |
27 |
 |
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 |
3 |
 |
DeSanto-Shinawi syndrome |
1 |
 |
Desbuquois dysplasia + |
8 |
 |
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 |
2 |
 |
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 |
64 |
 |
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 + |
61 |
 |
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 |
10 |
 |
Kapur Toriello Syndrome |
1 |
 |
Keppen-Lubinsky Syndrome |
1 |
 |
Kleefstra syndrome + |
107 |
 |
Klippel-Feil syndrome 4 |
1 |
 |
Kosztolanyi Syndrome |
0 |
 |
Larsen-like syndrome B3GAT3 type |
10 |
 |
Leichtman Wood Rohn Syndrome |
0 |
 |
Loeys-Dietz syndrome + |
47 |
 |
Macrocephaly + |
90 |
 |
Mandibuloacral Dysplasia Progeroid Syndrome |
1 |
 |
Mandibulofacial Dysostosis Syndrome, Bauru Type |
0 |
 |
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia |
0 |
 |
Marshall syndrome + |
4 |
 |
Marshall-Smith syndrome |
6 |
 |
Maxillofacial Abnormalities + |
315 |
 |
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 + |
64 |
 |
Noonan syndrome with multiple lentigines + |
10 |
 |
OTOFACIAL NEURODEVELOPMENTAL SYNDROME |
1 |
 |
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 + |
80 |
 |
SCARF Syndrome |
0 |
 |
SHORT STATURE-MICROGNATHIA SYNDROME |
2 |
 |
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 + |
21 |
 |
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 + |
5 |
 |
Temtamy syndrome |
64 |
 |
Tessadori-van Haaften Neurodevelopmental Syndrome 2 |
0 |
 |
Tetrasomy X |
0 |
 |
Tollner Horst Manzke Syndrome |
0 |
 |
Urioste Martinez-Frias Syndrome |
0 |
 |
Van Bogaert-Hozay Syndrome |
0 |
 |
Van Maldergem syndrome + |
3 |
 |
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 |
72 |
 |
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 + |
337 |
 |
diphthamide deficiency syndrome 1 |
1 |
 |
distal arthrogryposis type 6 |
0 |
 |
fetal encasement syndrome |
1 |
 |
frontonasal dysplasia + |
6 |
 |
geleophysic dysplasia + |
3 |
 |
holoprosencephaly + |
223 |
 |
hypotonia-cystinuria syndrome |
4 |
 |
immunodeficiency-centromeric instability-facial anomalies syndrome + |
13 |
 |
linear skin defects with multiple congenital anomalies 2 |
1 |
 |
mandibuloacral dysplasia type B lipodystrophy |
1 |
 |
microcephaly + |
1146 |
 |
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis |
4 |
 |
oculodentodigital dysplasia + |
2 |
 |
orofaciodigital syndrome + |
32 |
 |
otopalatodigital syndrome spectrum disorder + |
12 |
 |
syndromic X-linked intellectual disability Abidi type |
0 |
 |
syndromic X-linked intellectual disorder Lujan-Fryns-type |
1 |
 |
trichodontoosseous syndrome |
44 |
 |
Path 2 |
disease |
19141 |
 |
Developmental Disease |
14667 |
 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
13715 |
 |
Congenital Abnormalities |
7887 |
 |
Musculoskeletal Abnormalities |
3456 |
 |
Craniofacial Abnormalities |
2778 |
 |
22q11 Deletion Syndrome + |
95 |
 |
3MC syndrome + |
19 |
 |
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 |
 |
Axenfeld-Rieger syndrome type 1 |
11 |
 |
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations |
2 |
 |
Baker Vinters Syndrome |
0 |
 |
Baraitser-Winter syndrome + |
13 |
 |
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 |
1 |
 |
CEBALID Syndrome |
2 |
 |
CHITAYAT SYNDROME |
1 |
 |
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME |
1 |
 |
CODAS syndrome |
1 |
 |
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA |
2 |
 |
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 |
20 |
 |
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 |
27 |
 |
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 |
3 |
 |
DeSanto-Shinawi syndrome |
1 |
 |
Desbuquois dysplasia + |
8 |
 |
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 |
2 |
 |
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 |
64 |
 |
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 + |
61 |
 |
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 |
10 |
 |
Kapur Toriello Syndrome |
1 |
 |
Keppen-Lubinsky Syndrome |
1 |
 |
Kleefstra syndrome + |
107 |
 |
Klippel-Feil syndrome 4 |
1 |
 |
Kosztolanyi Syndrome |
0 |
 |
Larsen-like syndrome B3GAT3 type |
10 |
 |
Leichtman Wood Rohn Syndrome |
0 |
 |
Loeys-Dietz syndrome + |
47 |
 |
Macrocephaly + |
90 |
 |
Mandibuloacral Dysplasia Progeroid Syndrome |
1 |
 |
Mandibulofacial Dysostosis Syndrome, Bauru Type |
0 |
 |
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia |
0 |
 |
Marshall syndrome + |
4 |
 |
Marshall-Smith syndrome |
6 |
 |
Maxillofacial Abnormalities + |
315 |
 |
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 + |
64 |
 |
Noonan syndrome with multiple lentigines + |
10 |
 |
OTOFACIAL NEURODEVELOPMENTAL SYNDROME |
1 |
 |
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 + |
80 |
 |
SCARF Syndrome |
0 |
 |
SHORT STATURE-MICROGNATHIA SYNDROME |
2 |
 |
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 + |
21 |
 |
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 + |
5 |
 |
Temtamy syndrome |
64 |
 |
Tessadori-van Haaften Neurodevelopmental Syndrome 2 |
0 |
 |
Tetrasomy X |
0 |
 |
Tollner Horst Manzke Syndrome |
0 |
 |
Urioste Martinez-Frias Syndrome |
0 |
 |
Van Bogaert-Hozay Syndrome |
0 |
 |
Van Maldergem syndrome + |
3 |
 |
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 |
72 |
 |
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 + |
337 |
 |
diphthamide deficiency syndrome 1 |
1 |
 |
distal arthrogryposis type 6 |
0 |
 |
fetal encasement syndrome |
1 |
 |
frontonasal dysplasia + |
6 |
 |
geleophysic dysplasia + |
3 |
 |
holoprosencephaly + |
223 |
 |
hypotonia-cystinuria syndrome |
4 |
 |
immunodeficiency-centromeric instability-facial anomalies syndrome + |
13 |
 |
linear skin defects with multiple congenital anomalies 2 |
1 |
 |
mandibuloacral dysplasia type B lipodystrophy |
1 |
 |
microcephaly + |
1146 |
 |
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis |
4 |
 |
oculodentodigital dysplasia + |
2 |
 |
orofaciodigital syndrome + |
32 |
 |
otopalatodigital syndrome spectrum disorder + |
12 |
 |
syndromic X-linked intellectual disability Abidi type |
0 |
 |
syndromic X-linked intellectual disorder Lujan-Fryns-type |
1 |
 |
trichodontoosseous syndrome |
44 |
 |