Path 1 |
disease |
19050 |
|
disease of anatomical entity |
18384 |
|
musculoskeletal system disease |
8479 |
|
Musculoskeletal Abnormalities |
3420 |
|
Craniofacial Abnormalities |
2750 |
|
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 |
1 |
|
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 |
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 |
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 |
1 |
|
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 |
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 |
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 + |
49 |
|
Macrocephaly + |
88 |
|
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 + |
311 |
|
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 + |
62 |
|
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 + |
79 |
|
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 + |
9 |
|
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 + |
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 |
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 + |
332 |
|
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 + |
1143 |
|
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis |
4 |
|
oculodentodigital dysplasia + |
2 |
|
orofaciodigital syndrome + |
31 |
|
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 |
19050 |
|
Developmental Disease |
14522 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
13536 |
|
Congenital Abnormalities |
7762 |
|
Musculoskeletal Abnormalities |
3420 |
|
Craniofacial Abnormalities |
2750 |
|
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 |
1 |
|
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 |
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 |
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 |
1 |
|
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 |
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 |
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 + |
49 |
|
Macrocephaly + |
88 |
|
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 + |
311 |
|
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 + |
62 |
|
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 + |
79 |
|
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 + |
9 |
|
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 + |
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 |
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 + |
332 |
|
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 + |
1143 |
|
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis |
4 |
|
oculodentodigital dysplasia + |
2 |
|
orofaciodigital syndrome + |
31 |
|
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 |
|