Path 1 |
disease |
16223 |
|
Developmental Disease |
14000 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
13024 |
|
Congenital Abnormalities |
7815 |
|
Multiple Abnormalities |
3842 |
|
16Q24.3 Microdeletion Syndrome |
31 |
|
1q24 Deletion Syndrome |
96 |
|
22q11 Deletion Syndrome + |
94 |
|
3-hydroxyisobutryl-CoA hydrolase deficiency |
3 |
|
3-methylglutaconic aciduria type 4 |
0 |
|
3MC syndrome + |
19 |
|
3p deletion syndrome |
39 |
|
Aase Smith Syndrome |
0 |
|
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies |
0 |
|
Acrocephalopolydactylous Dysplasia |
0 |
|
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia |
0 |
|
Adducted Thumbs Syndrome + |
2 |
|
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations |
0 |
|
Aksu von Stockhausen Syndrome |
0 |
|
Al Gazali Aziz Salem Syndrome |
0 |
|
Al Kaissi Syndrome |
1 |
|
Al-Gazali Syndrome |
1 |
|
Alagille syndrome + |
12 |
|
Angelman syndrome |
31 |
|
Anisomastia |
0 |
|
Arboleda-Tham syndrome |
1 |
|
Arthrogryposis Epileptic Seizures Migrational Brain Disorder |
0 |
|
Aughton Syndrome |
0 |
|
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation |
0 |
|
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss |
0 |
|
Axial Mesodermal Dysplasia Spectrum |
0 |
|
Bamforth-Lazarus syndrome |
2 |
|
Baraitser-Winter syndrome + |
13 |
|
Bart-Pumphrey syndrome |
1 |
|
Barth syndrome + |
66 |
|
Beckwith-Wiedemann syndrome + |
77 |
|
Ben Ari Shuper Mimouni Syndrome |
0 |
|
Beta-Ureidopropionase Deficiency |
1 |
|
Bifid Femur with Monodactylous Ectrodactyly |
2 |
|
Bilateral Amastia with Ureteral Triplication and Dysmorphism |
0 |
|
Birk-Landau-Perez Syndrome |
1 |
|
Bloch-Sulzberger syndrome + |
2 |
|
Bowen Syndrome |
0 |
|
Brachydactyly, Intraventricular Septal Defect, and Deafness |
0 |
|
Brachymesomelia Renal Syndrome |
0 |
|
Branchiogenic-Deafness Syndrome |
0 |
|
Broad Terminal Phalanges, Familial |
0 |
|
Burnett Schwartz Berberian Syndrome |
1 |
|
CATIFA Syndrome |
1 |
|
CHARGE syndrome |
20 |
|
CHILD syndrome |
1 |
|
CHOPRA-AMIEL-GORDON SYNDROME |
1 |
|
CHOPS Syndrome |
1 |
|
CIMDAG SYNDROME |
1 |
|
COACH syndrome + |
5 |
|
Cardiac, Facial, and Digital Anomalies with Developmental Delay |
1 |
|
Carney complex + |
4 |
|
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction |
0 |
|
Char syndrome |
1 |
|
Chemke Oliver Mallek Syndrome |
0 |
|
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss |
0 |
|
Cockayne syndrome + |
35 |
|
Coffin-Siris syndrome + |
18 |
|
Combined Pituitary Hormone Deficiency 1 |
6 |
|
Combined Pituitary Hormone Deficiency 4 |
2 |
|
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE |
1 |
|
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome |
0 |
|
Cornelia de Lange syndrome + |
47 |
|
Costello syndrome |
27 |
|
Costocoracoid Ligament Congenitally Short |
0 |
|
Craniofaciofrontodigital Syndrome |
0 |
|
Craniofacioskeletal Syndrome |
0 |
|
Craniomicromelic Syndrome |
0 |
|
Craniosynostosis Syndrome, Autosomal Recessive |
40 |
|
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig |
0 |
|
Cree Mental Retardation Syndrome |
0 |
|
Cri-du-Chat syndrome + |
19 |
|
Crumpled Helices and Small Mouth |
0 |
|
Cryptomicrotia Brachydactyly Syndrome |
0 |
|
DEEAH Syndrome |
1 |
|
DK Phocomelia Syndrome |
0 |
|
Deaf-Blind Disorders + |
86 |
|
Deafness, Nephritis, Anorectal Malformation |
0 |
|
Delayed Cranial Ossification due to CBFB Haploinsufficiency |
0 |
|
Desmosterolosis |
1 |
|
Devriendt syndrome |
0 |
|
Dincsoy Salih Patel Syndrome |
0 |
|
Donohue syndrome |
1 |
|
Down syndrome + |
63 |
|
EVEN-PLUS SYNDROME |
1 |
|
Ectrodactyly Cardiopathy Dysmorphism |
0 |
|
Elliott Ludman Teebi Syndrome |
0 |
|
Ellis Yale Winter Syndrome |
0 |
|
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract |
0 |
|
Facial Dysmorphism with Multiple Malformations + |
6 |
|
Facio Thoraco Genital Syndrome |
0 |
|
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder |
0 |
|
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities |
0 |
|
Feingold Trainer Syndrome |
0 |
|
Femur Fibula Ulna Syndrome |
0 |
|
Filippi syndrome |
1 |
|
Fine-Lubinsky Syndrome |
3 |
|
Flat Umbilicus Familial |
0 |
|
Floating-Harbor syndrome |
1 |
|
Forney Robinson Pascoe Syndrome |
1 |
|
Fountain Syndrome |
0 |
|
Fraser Jequier Chen Syndrome |
0 |
|
Fraser syndrome + |
19 |
|
Fried Goldberg Mundel Syndrome |
0 |
|
Gardner Morrisson Abbot Syndrome |
0 |
|
Gardner Syndrome + |
2 |
|
Gingival Fibromatosis with Hypertrichosis and Mental Retardation |
0 |
|
Glutamyl Ribose-5-Phosphate Storage Disease |
0 |
|
Gomez Lopez Hernandez Syndrome |
0 |
|
Gorlin Chaudhry Moss Syndrome |
0 |
|
Grant Syndrome |
0 |
|
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death |
2 |
|
Guttmacher syndrome |
1 |
|
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES |
1 |
|
Hadziselimovic Syndrome |
0 |
|
Halal Syndrome |
0 |
|
Hanhart Syndrome |
0 |
|
Harrod Doman Keele Syndrome |
0 |
|
Heart Defects Limb Shortening |
0 |
|
Hecht Scott Syndrome |
0 |
|
Hersh Podruch Weisskopf Syndrome |
0 |
|
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly |
0 |
|
Hittner Hirsch Kreh Syndrome |
4 |
|
Ho Kaufman Mcalister Syndrome |
0 |
|
Holt-Oram syndrome + |
3 |
|
Holzgreve-Wagner-Rehder syndrome |
0 |
|
Hordnes Engebretsen Knudtson syndrome |
0 |
|
Hoxha-Aliu syndrome |
1 |
|
Hunter-Macdonald Syndrome |
0 |
|
Hypomelia Mullerian Duct Anomalies |
0 |
|
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES |
1 |
|
IGF1R-RELATED DISORDER |
1 |
|
Iris Dysplasia Hypertelorism Deafness |
0 |
|
Isolated Noncompaction of the Ventricular Myocardium + |
109 |
|
JOINT LAXITY, SHORT STATURE, AND MYOPIA |
1 |
|
Jequier Kozlowski Skeletal Dysplasia |
0 |
|
Jung Wolff Back Stahl Syndrome |
0 |
|
KBG syndrome |
49 |
|
Kabuki syndrome + |
36 |
|
Kapur Toriello Syndrome |
1 |
|
Kashani Strom Utley Syndrome |
0 |
|
Kasznica Carlson Coppedge Syndrome |
0 |
|
Keppen-Lubinsky Syndrome |
1 |
|
Keratoconus Posticus Circumscriptus with Associated Malformations |
0 |
|
Keutel Syndrome |
1 |
|
Khalifa Graham Syndrome |
0 |
|
Kleiner Holmes Syndrome |
0 |
|
Koolen de Vries syndrome |
7 |
|
Kosaki Overgrowth Syndrome |
1 |
|
Kosztolanyi Syndrome |
0 |
|
Kozlowski Brown Hardwick Syndrome |
0 |
|
Krauss Herman Holmes Syndrome |
0 |
|
Krieble Bixler Syndrome |
0 |
|
Kyphomelic Dysplasia |
0 |
|
LADD syndrome + |
3 |
|
LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT |
1 |
|
Larsen-Like Syndromes + |
11 |
|
Laurence-Moon syndrome |
1 |
|
Laurin-Sandrow syndrome |
2 |
|
Le Marec Bracq Picaud Syndrome |
0 |
|
Lenz-Majewski hyperostotic dwarfism |
1 |
|
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities |
0 |
|
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia |
0 |
|
Loeys-Dietz syndrome + |
48 |
|
Lopes Gorlin Syndrome |
0 |
|
Lowry Maclean syndrome |
0 |
|
Lung Agenesis + |
9 |
|
Lutz Richner Landolt Syndrome |
0 |
|
Lymphedema, Cardiac Septal Defects, and Characteristic Facies |
0 |
|
MIRAGE Syndrome |
0 |
|
MLS syndrome + |
3 |
|
MORM Syndrome |
1 |
|
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED |
1 |
|
Macrosomia Obesity Macrocephaly Ocular Abnormalities |
0 |
|
Macrosomia with Lethal Microphthalmia |
0 |
|
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
0 |
|
Manouvrier Syndrome |
0 |
|
Marden-Walker Syndrome |
1 |
|
Marfan syndrome + |
235 |
|
Marles Greenberg Persaud Syndrome |
1 |
|
Marshall-Smith syndrome |
6 |
|
McDonough Syndrome |
0 |
|
McKusick-Kaufman syndrome |
1 |
|
McPherson Clemens Syndrome |
0 |
|
Megalencephaly - Cutis Marmorata Telangiectatica Congenita |
5 |
|
Megarbane Jalkh Syndrome |
0 |
|
Megarbane Syndrome |
0 |
|
Mehes Syndrome |
0 |
|
Melhem Fahl Syndrome |
0 |
|
Menke-Hennekam Syndrome + |
2 |
|
Mental Retardation, Buenos Aires Type |
0 |
|
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face |
0 |
|
Mesomelia-Synostoses Syndrome |
0 |
|
Mesomelic Limb Shortening and Bowing |
0 |
|
Michels Caskey Syndrome |
0 |
|
Microcephaly Albinism Digital Anomalies Syndrome |
0 |
|
Microcephaly Seizures Mental Retardation Heart Disorders |
0 |
|
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange + |
465 |
|
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance |
0 |
|
Microdontia Hypodontia Short Stature |
0 |
|
Microspherophakia with Hernia |
0 |
|
Moebius syndrome + |
20 |
|
Morillo-Cucci Passarge Syndrome |
0 |
|
Mousa Al din Al Nassar Syndrome |
0 |
|
Mucopolysaccharidosis-Plus Syndrome |
1 |
|
Muller Barth Menger Syndrome |
0 |
|
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull |
0 |
|
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability |
4 |
|
Myoectodermal Gonadal Dysgenesis Syndrome |
3 |
|
NEUROCARDIOFACIODIGITAL SYNDROME |
1 |
|
NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION |
1 |
|
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES |
1 |
|
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES |
1 |
|
Nablus Mask-Like Facial Syndrome |
0 |
|
Nasopalpebral Lipoma Coloboma Syndrome |
1 |
|
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia |
0 |
|
Netherton syndrome |
6 |
|
Neu-Laxova syndrome 1 |
2 |
|
Neu-Laxova syndrome 2 |
5 |
|
Neurofaciodigitorenal Syndrome |
0 |
|
Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum |
0 |
|
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features |
0 |
|
Noonan syndrome with multiple lentigines + |
10 |
|
Novak Syndrome |
0 |
|
Oculocerebral Hypopigmentation Syndrome Type Preus |
0 |
|
Oculopalatocerebral Syndrome |
0 |
|
Oculorenocerebellar Syndrome |
0 |
|
Ogden syndrome |
1 |
|
Oslam syndrome |
0 |
|
PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY |
1 |
|
POEMS syndrome |
0 |
|
Palant Cleft Palate Syndrome |
0 |
|
Pallister W Syndrome |
0 |
|
Pallister-Hall syndrome + |
2 |
|
Patterson Pseudoleprechaunism Syndrome |
0 |
|
Pelvis-Shoulder Dysplasia |
0 |
|
Penoscrotal Transposition |
0 |
|
Pentalogy of Cantrell |
0 |
|
Petty Laxova Wiedemann Syndrome |
0 |
|
Pfeiffer Kapferer Syndrome |
0 |
|
Pfeiffer Mayer Syndrome |
0 |
|
Pfeiffer Palm Teller Syndrome |
0 |
|
Pfeiffer Tietze Welte Syndrome |
0 |
|
Piepkorn Karp Hickok syndrome |
0 |
|
Pierson syndrome |
15 |
|
Pilotto Syndrome |
0 |
|
Podder-Tolmie Syndrome |
0 |
|
Pointer Syndrome |
0 |
|
Potocki-Lupski syndrome |
42 |
|
Powell Chandra Saal Syndrome |
0 |
|
Prader-Willi syndrome + |
18 |
|
Premature Aging, Okamoto Type |
0 |
|
Primrose Syndrome |
1 |
|
Proteus syndrome + |
2 |
|
Pseudoaminopterin Syndrome |
0 |
|
Qazi Markouizos syndrome |
0 |
|
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES |
1 |
|
Radial Defect Robin Sequence |
0 |
|
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias |
0 |
|
Radial Ray Hypoplasia Choanal Atresia |
0 |
|
Radio-Ulnar Synostosis Type 1 |
0 |
|
Radio-Ulnar Synostosis Type 2 |
0 |
|
Raine Syndrome |
1 |
|
Ramos Arroyo Clark Syndrome |
0 |
|
Renal Hypophosphatemia with Intracerebral Calcifications |
0 |
|
Ritscher-Schinzel syndrome + |
4 |
|
Rozin Hertz Goodman Syndrome |
0 |
|
Rubella Syndrome, Congenital |
0 |
|
Rubinstein-Taybi syndrome + |
82 |
|
Rudiger Syndrome |
0 |
|
Ruvalcaba Syndrome |
0 |
|
SATB2-associated syndrome |
2 |
|
SCARF Syndrome |
0 |
|
SULEIMAN-EL-HATTAB SYNDROME |
2 |
|
Saal Bulas Syndrome |
0 |
|
Sackey Sakati Aur Syndrome |
0 |
|
Sacral Meningocele Conotruncal Heart Defects |
0 |
|
Samson Viljoen Syndrome |
0 |
|
Sanderson Fraser Syndrome |
0 |
|
Sandhaus Ben-Ami Syndrome |
0 |
|
Sao Paulo MCA/MR Syndrome |
0 |
|
Say Field Coldwell Syndrome |
0 |
|
Say Meyer Syndrome |
1 |
|
Say Syndrome |
0 |
|
Schaefer Stein Oshman Syndrome |
0 |
|
Schrander-Stumpel Theunissen Hulsmans Syndrome |
0 |
|
Seaver Cassidy Syndrome |
0 |
|
Seckel Like Syndrome Type Buebel |
0 |
|
Seckel syndrome + |
17 |
|
Seemanova Lesny Syndrome |
0 |
|
Seow Najjar Syndrome |
0 |
|
Sharma Kapoor Ramji Syndrome |
0 |
|
Shashi-Pena Syndrome |
1 |
|
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting |
0 |
|
Shprintzen Omphalocele Syndrome |
0 |
|
Siegler Brewer Carey Syndrome |
0 |
|
Sifrim-Hitz-Weiss syndrome |
2 |
|
Silengo Lerone Pelizza Syndrome |
0 |
|
Silver-Russell syndrome + |
21 |
|
Simpson-Golabi-Behmel syndrome type 2 |
1 |
|
Smith-Lemli-Opitz syndrome + |
6 |
|
Smith-Magenis syndrome + |
15 |
|
Sotos syndrome + |
66 |
|
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects |
0 |
|
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium |
0 |
|
Squalene Synthase Deficiency |
2 |
|
Stankiewicz-Isidor Syndrome |
1 |
|
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features |
0 |
|
Stevenson-Carey Syndrome |
0 |
|
Stoelinga-de Koomen-Davis Syndrome |
0 |
|
TAN-ALMURSHEDI SYNDROME |
1 |
|
Tamari Goodman Syndrome |
0 |
|
Teebi Shaltout Syndrome |
0 |
|
Teebi hypertelorism syndrome + |
3 |
|
Thakker Donnai Syndrome |
0 |
|
Thomas Jewett Raines Syndrome |
0 |
|
Thomas Syndrome |
0 |
|
Thoracolaryngopelvic Dysplasia |
0 |
|
Thrombocytopenia 11 |
1 |
|
Thymic Aplasia with Fetal Death |
0 |
|
Tollner Horst Manzke Syndrome |
0 |
|
Townes-Brocks syndrome + |
12 |
|
Tricho-Dento-Osseous Syndrome 1 |
0 |
|
Triphalangeal Thumbs with Brachyectrodactyly |
0 |
|
Trisomy 18-Like Syndrome |
0 |
|
Tsukahara Syndrome |
1 |
|
Urioste Martinez-Frias Syndrome |
0 |
|
Urogenital Adysplasia |
0 |
|
Uropathy Distal Obstructive Polydactyly |
0 |
|
Uruguay faciocardiomusculoskeletal syndrome |
1 |
|
VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS |
2 |
|
Van Maldergem syndrome + |
3 |
|
Van den Ende-Gupta syndrome |
1 |
|
Van der Woude Syndrome 2 |
3 |
|
Van der Woude syndrome + |
6 |
|
Velofacioskeletal Syndrome |
0 |
|
Verheij Syndrome |
1 |
|
Verloove-Vanhorick Brubakk Syndrome |
0 |
|
Vertebral, Cardiac, Renal, and Limb Defects Syndromes + |
3 |
|
Vohwinkel syndrome |
1 |
|
WT Limb Blood Syndrome |
0 |
|
Waardenburg syndrome + |
13 |
|
Walbaum Titran Durieux Crepin Syndrome |
0 |
|
Warburg micro syndrome + |
4 |
|
Weaver syndrome |
5 |
|
Weill-Marchesani syndrome + |
6 |
|
Weyers Ulnar Ray/Oligodactyly Syndrome |
0 |
|
Weyers acrofacial dysostosis |
2 |
|
White Forelock with Malformations |
0 |
|
Wiedemann Grosse Dibbern Syndrome |
0 |
|
Wiedemann-Steiner syndrome |
4 |
|
Winchester syndrome |
3 |
|
Winter Harding Hyde Syndrome |
0 |
|
Wolf-Hirschhorn syndrome |
7 |
|
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears |
0 |
|
XK Aprosencephaly |
0 |
|
YOU-HOOVER-FONG SYNDROME |
2 |
|
YUKSEL-VOGEL-BAUER SYNDROME |
1 |
|
Yemenite Deaf-Blind Hypopigmentation Syndrome |
0 |
|
Yim Ebbin Syndrome |
0 |
|
ZTTK syndrome |
27 |
|
Zadik Barak Levin Syndrome |
0 |
|
Zechi-Ceide Syndrome |
0 |
|
Zellweger syndrome + |
120 |
|
Zimmerman Laband Syndrome + |
3 |
|
ablepharon macrostomia syndrome |
1 |
|
asphyxiating thoracic dystrophy + |
236 |
|
autosomal dominant intellectual developmental disorder 22 |
1 |
|
bilateral perisylvian polymicrogyria + |
10 |
|
branchiooculofacial syndrome |
3 |
|
branchiootorenal syndrome + |
14 |
|
caudal regression syndrome |
6 |
|
chromosome 15q26-qter deletion syndrome |
14 |
|
chromosome 19q13.11 deletion syndrome |
1 |
|
chromosome 1q21.1 deletion syndrome |
7 |
|
chromosome 22q11.2 microduplication syndrome |
44 |
|
chromosome 2p16.1-p15 deletion syndrome |
1 |
|
chromosome 2q31.2 deletion syndrome |
0 |
|
chromosome 5p13 duplication syndrome |
0 |
|
ciliopathy + |
1029 |
|
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
2 |
|
congenital secretory sodium diarrhea 3 |
1 |
|
contractures, pterygia, and spondylocarpotarsal fusion syndrome + |
10 |
|
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome + |
2 |
|
craniofacial-deafness-hand syndrome |
2 |
|
deafness, dystonia, and cerebral hypomyelination |
5 |
|
deafness-intellectual disability, Martin-Probst type syndrome |
0 |
|
distal arthrogryposis type 7 |
3 |
|
ectodermal dysplasia + |
550 |
|
fibrochondrogenesis + |
2 |
|
hand-foot-genital syndrome |
2 |
|
holoprosencephaly + |
224 |
|
hyperphosphatasia with impaired intellectual development syndrome + |
73 |
|
hypoparathyroidism-retardation-dysmorphism syndrome |
2 |
|
lateral meningocele syndrome |
1 |
|
linear nevus sebaceous syndrome + |
4 |
|
megacystis-microcolon-intestinal hypoperistalsis syndrome + |
7 |
|
monilethrix + |
3 |
|
mucolipidosis II alpha/beta |
1 |
|
multiple congenital anomalies-hypotonia-seizures syndrome + |
33 |
|
multiple congenital anomalies-hypotonia-seizures syndrome 3 |
1 |
|
nail-patella syndrome + |
4 |
|
nevoid basal cell carcinoma syndrome + |
15 |
|
oculocerebrorenal syndrome + |
12 |
|
orofaciodigital syndrome + |
32 |
|
polycystic kidney disease + |
148 |
|
postaxial acrofacial dysostosis |
1 |
|
prolidase deficiency |
1 |
|
prune belly syndrome + |
3 |
|
spondylocarpotarsal synostosis syndrome |
2 |
|
spondylocostal dysostosis 1 |
4 |
|
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type |
1 |
|
tetraamelia syndrome + |
2 |
|
trichothiodystrophy + |
12 |
|
ulnar-mammary syndrome |
2 |
|
vertebral anomalies and variable endocrine and T-cell dysfunction |
1 |
|
visceral heterotaxy + |
122 |
|