Gene Summary

bone morphogenetic protein 7
osteogenic protein 1,  OP1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular volume Bmp7tm1a(EUCOMM)Hmgu HET Early adult 5.40×10-05
increased monocyte cell number Bmp7tm1a(EUCOMM)Hmgu HET Early adult 1.12×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Bmp7 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Bmp7 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Hydroureter, Abnormality of the urinary system, Abnorm... ORPHA:2838
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal... OMIM:601331
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins... OMIM:143400
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Congenital Primary Megaureter
Recurrent urinary tract infections, Hydronephrosis, Microscopic hematuria, Congenital megaureter,... ORPHA:617
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Multiple renal ... OMIM:620056
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Erythroid hypoplasia, Anemia OMIM:618312
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Nephronophthisis 20
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral... OMIM:617271
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Vesicoureteral Reflux 3
Recurrent urinary tract infections, Hydronephrosis, Grade IV vesicoureteral reflux, Hydroureter, ... OMIM:613674
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... OMIM:618270
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Renal Hypodysplasia/Aplasia 3
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysp... OMIM:617805
Syndactyly Type 2
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... ORPHA:93403
Duplicated collecting system, Ureterocele OMIM:191650
Otodental Syndrome
Lens coloboma, High-frequency sensorineural hearing impairment, Abnormal dental pulp morphology, ... ORPHA:2791
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Cleft Lip/Palate
Abnormality of dental eruption, Conductive hearing impairment, Unilateral cleft palate, Abnormal ... ORPHA:199306
Joubert Syndrome 22
Postaxial foot polydactyly, Intrauterine growth retardation, Microphthalmia, Postaxial hand polyd... OMIM:615665
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Urofacial Syndrome 1
Enuresis, Hydronephrosis, Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethr... OMIM:236730
Otodental Dysplasia
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Anteverted nares, Long phi... OMIM:166750
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... ORPHA:99798
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... OMIM:616689
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Scoliosis, Metaphyseal cupping, Irregular epiphyses, Biconvex verteb... OMIM:184260
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Carey-Fineman-Ziter Syndrome 2
Low-set ears, Scoliosis, Abnormal nasal septum morphology, Protruding ear, Underdeveloped nasal a... OMIM:619941
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Gombo Syndrome
Clinodactyly, Brachydactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic erythroid hype... OMIM:261000
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormal sacrum morphology, Scoliosis, Abnormality of fibula morphol... ORPHA:1988
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias OMIM:620044
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Erythroid hyperplasia, Anemia OMIM:206100
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Amelogenesis Imperfecta
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... ORPHA:88661
Chromosome 22Q11.2 Duplication Syndrome
Low-set ears, High palate, Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency,... OMIM:608363
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Refractory anemia, Leukopenia, Acute myeloid leukemia OMIM:616871
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Anophthalmia OMIM:616428
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Hydroureter, Microphthalmia, Hypoplasia of penis, Abnormality of the bla... ORPHA:2547
Humero-Radio-Ulnar Synostosis
Elbow ankylosis, Abnormality of the ureter, Aplasia/Hypoplasia of the thumb, Abnormal metacarpal ... ORPHA:3266
Rubinstein-Taybi Syndrome 2
High palate, Long eyelashes, Retrognathia, Posteriorly rotated ears, Talon cusp, Thick eyebrow, H... OMIM:613684
Cat-Eye Syndrome
Hydronephrosis, Hip dysplasia, Iris coloboma, Renal hypoplasia/aplasia, Intrauterine growth retar... ORPHA:195
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Reduced renal corti... OMIM:617610
Dentin Dysplasia, Type I
Oligodontia, Periapical bone loss, Taurodontia, Enamel hypoplasia, Microdontia, Short dental root... OMIM:125400
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Contracture of... OMIM:609813
Intellectual Disability, Birk-Barel Type
Broad nasal tip, Open mouth, Protruding ear, Broad philtrum, High, narrow palate, Tented upper li... ORPHA:166108
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Congenital Megacalycosis
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial... ORPHA:93109
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... OMIM:614470
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Thick eyebrow, Hearing impairment, Delayed eruption of teeth, Gingi... ORPHA:2222
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Trichodentoosseous Syndrome
Abnormal hair morphology, Widely spaced teeth, Taurodontia, Microdontia OMIM:190320
Renal Dysplasia
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... ORPHA:93108
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... ORPHA:3203
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Epicanthus, Synophrys, Finger syndactyly, Abnormality of the elbow, Thick eyebrow, Abn... ORPHA:3268
Congenital Absence Of Upper Arm And Forearm With Hand Present
Small for gestational age, Polydactyly, Abnormal hip bone morphology, Syndactyly, Upper limb phoc... ORPHA:294975
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Low-set, posteriorly rotated ears, Malar flattening, Abnormality of dental morphology, Maxillozyg... ORPHA:2972
Microphthalmia, Syndromic 12
Broad nasal tip, Retrognathia, Microphthalmia, Cleft palate, Wide nasal bridge, Micrognathia, Int... OMIM:615524
Senior-Loken Syndrome
Cataract, Stage 5 chronic kidney disease, Chronic kidney disease, Ataxia, Abnormality of bone min... ORPHA:3156
Meckel Syndrome, Type 8
Encephalocele, Polycystic kidney dysplasia, Polydactyly, Enlarged kidney, Occipital encephalocele... OMIM:613885
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Short neck, Death in infancy, Hemivertebra... OMIM:277300
Liberfarb Syndrome
Scoliosis, Retinal pigment epithelial mottling, Metaphyseal striations, Optic disc pallor, Retina... OMIM:618889
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Thoracic hypoplasia, Epicanthus, Preaxial polydactyly, Radial bowing... OMIM:617866
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Prominent metopic ridge, Cleft palate, Hearing impairment, Microglossia, Short nose,... ORPHA:364577
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Synophrys, Underdeveloped nasal alae, Gingival fibromatosis, Abnormality of dental m... ORPHA:2025
Arthrogryposis, Distal, Type 1C
High palate, Camptodactyly of finger, Retrognathia, Scoliosis, Bifid uvula, Pursed lips, Cleft li... OMIM:619110
Jeune Syndrome
Postaxial foot polydactyly, Abnormal metaphysis morphology, Renal insufficiency, Nephropathy, Nep... ORPHA:474
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Hemifacial Atrophy, Progressive
Patchy alopecia, Short mandibular rami, Kyphosis, Poliosis, Tongue atrophy, Dental malocclusion, ... OMIM:141300
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Down-sloping shoulders, Scoliosis, Epicanthus, Abnormal retinal vascular morphology, Synophrys, D... ORPHA:1390
Rapp-Hodgkin Syndrome
Bifid uvula, Cleft palate, Hearing impairment, Narrow mouth, Slow-growing hair, Sparse eyebrow, C... OMIM:129400
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Syndactyly, Type Iv
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... OMIM:186200
Bone Marrow Failure Syndrome 6
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia OMIM:618849
Mohr Syndrome
High palate, Broad nasal tip, Scoliosis, Conductive hearing impairment, Hydrocephalus, Malar flat... OMIM:252100
Nephronophthisis 9
Renal cortical microcysts, Nephronophthisis, Stage 5 chronic kidney disease OMIM:613824
Orofacial Cleft 15
Low-set ears, Protruding ear, Sparse eyelashes, High anterior hairline, Bilateral cleft lip, Agen... OMIM:616788
Zimmermann-Laband Syndrome 3
High palate, Broad nasal tip, Long eyelashes, Facial hypertrichosis, Bifid uvula, Thick hair, Syn... OMIM:618658
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Cranioectodermal Dysplasia
Craniosynostosis, Abnormality of the dentition, Taurodontia, Microdontia, Anteverted nares, Evert... ORPHA:1515
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Short Stature-Wormian Bones-Dextrocardia Syndrome
Depressed nasal tip, Anal atresia, High palate, Camptodactyly of finger, Low-set ears, Tooth agen... ORPHA:2863
Lowry-Maclean Syndrome
Craniosynostosis, Delayed eruption of teeth, Convex nasal ridge, Cleft palate OMIM:600252
Acrofacial Dysostosis, Palagonia Type
Low-set ears, Scoliosis, Oligodontia, Unilateral cleft lip, Malar flattening, Posteriorly rotated... ORPHA:1787
Synpolydactyly 1
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... OMIM:186000
Apert Syndrome
Esophageal atresia, Conductive hearing impairment, Bifid uvula, Hydrocephalus, Mandibular prognat... ORPHA:87
48,Xxyy Syndrome
Chronic otitis media, Scoliosis, Taurodontia, Broad jaw, Cleft palate, Open bite, Radioulnar syno... ORPHA:10
Clark-Baraitser syndrome
Broad nasal tip, Scoliosis, Widely-spaced maxillary central incisors, Genu recurvatum, Kyphosis, ... OMIM:300602
Kniest Dysplasia
Abnormal joint morphology, Vitreoretinopathy, Vertebral wedging, Flexion contracture of finger, A... ORPHA:485
Heinz Body Anemias
Heinz body anemia, Heinz bodies, Nonspherocytic hemolytic anemia OMIM:140700
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hip dysplasia, Hydroureter, Tapered finger, Nephrolithiasis, Talipes equinovarus, Vesicoureteral ... OMIM:617219
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Orbital encephalocele, Alopecia, Microphthalmia, Cleft palate, Cleft ... OMIM:164180
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Thick eyebrow, Cleft palate, Highly arched eyebrow, Thin vermilion border, Enam... OMIM:614701
Stickler Syndrome, Type Ii
Bifid uvula, Malar flattening, Arthropathy, Cleft palate, High, narrow palate, Anteverted nares, ... OMIM:604841
Congenital Radioulnar Synostosis
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... ORPHA:3269
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Ureteral atresia, Unilateral renal agenesis, Sacral dimple, Death in infancy, S... OMIM:618845
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... OMIM:300946
Cardiocranial Syndrome, Pfeiffer Type
Low-set, posteriorly rotated ears, Low-set ears, Bifid uvula, Plantar flexion contracture, Umbili... ORPHA:2872
Frontonasal Dysplasia 1
Median cleft palate, Broad nasal tip, Low-set ears, Conductive hearing impairment, Widely-spaced ... OMIM:136760
Gingival Fibromatosis-Hypertrichosis Syndrome
Abnormality of the dentition, Synophrys, Gingival fibromatosis, Thick eyebrow, Delayed eruption o... ORPHA:2026
Lowry-Maclean Syndrome
Craniosynostosis, Midgut malrotation, Low-set ears, Retrognathia, Pyloric stenosis, Hydrocephalus... ORPHA:2409
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Thoracic dysplasia, Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Catara... OMIM:614376
Holzgreve Syndrome
Hand polydactyly, Renal agenesis, Renal hypoplasia OMIM:236110
Florid Cemento-Osseous Dysplasia
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... ORPHA:83451
Low-set, posteriorly rotated ears, Low-set ears, Retrognathia, Bifid uvula, Unilateral cleft lip,... ORPHA:2189
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Short nose, Cleft palate, Anteverted nares, Micrognathia, Thin... ORPHA:2015
Short Rib-Polydactyly Syndrome
Polycystic kidney dysplasia, Abnormality of the kidney, Abnormal long bone morphology, Absent or ... ORPHA:1505
Enlarged thorax, Absent or minimally ossified vertebral bodies, Short neck, Missing ribs, Multipl... ORPHA:66637
Tetrasomy 12P
Abnormal soft palate morphology, Anal atresia, Short nose, Anteverted nares, Everted lower lip ve... ORPHA:884
Trisomy 13
Cataract, Hydronephrosis, Iris coloboma, Bilateral single transverse palmar creases, Abnormal ret... ORPHA:3378
Filippi Syndrome
Hypertrichosis, Serrated incisors, Frontal hirsutism, Underdeveloped nasal alae, Abnormality of d... OMIM:272440
Adducted Thumbs Syndrome
Craniosynostosis, High palate, High, narrow palate, Cleft palate, Velopharyngeal insufficiency, H... OMIM:201550
Pyle Disease
Absent paranasal sinuses, Limited elbow extension, Scoliosis, Hypoplastic frontal sinuses, Mandib... OMIM:265900
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Broad nasal tip, Long eyelashes, Prominent nasal bridge, Synophrys, Prominent ear helix, Low ante... ORPHA:411986
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Snijders Blok-Campeau Syndrome
High palate, Scoliosis, Low-set ears, Umbilical hernia, Widely spaced teeth, Taurodontia, Enamel ... OMIM:618205
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Arthrogryposis, Distal, Type 5
Scoliosis, Epicanthus, Congenital finger flexion contractures, Blepharophimosis, Recurrent patell... OMIM:108145
Bresek Syndrome
Iris coloboma, Hypoplasia of the bladder, Intrauterine growth retardation, Optic nerve hypoplasia... ORPHA:85284
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Amelogenesis imperfecta, Taurodontia, Enamel hypoplasia, Generalized microdontia OMIM:104530
Spastic Paraplegia 81, Autosomal Recessive
Ankle clonus, Sensorineural hearing impairment, Bifid uvula, Cleft palate OMIM:618768
W Syndrome
Broad nasal tip, Broad uvula, Upper lip pit, Submucous cleft hard palate, Cubitus valgus, Abnorma... ORPHA:2804
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Low-set ears, Conductive hearing impairment, Open mouth, Bifid uvula, Long eyelashes... OMIM:617412
Oculodentodigital Dysplasia
Hip dislocation, Selective tooth agenesis, Cleft palate, Slow-growing hair, Carious teeth, Sparse... OMIM:164200
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Thin vermilion border, Large earlobe, Sparse hair, Wide cranial sutures, Fine hair,... OMIM:257850
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Cerebrooculonasal Syndrome
Low-set, posteriorly rotated ears, High palate, Anophthalmia, Widely spaced teeth, Solitary media... ORPHA:66625
Meckel Syndrome 13
Polycystic kidney dysplasia, Oculomotor apraxia, Ataxia, Retinopathy, Flexion contracture OMIM:617562
Teebi Hypertelorism Syndrome 2
High palate, Broad nasal tip, Short nose, Wide anterior fontanel, Microdontia, Thick eyebrow, Cle... OMIM:619736
Prune Belly Syndrome
Recurrent urinary tract infections, Pectus excavatum, Congenital hip dislocation, Hydroureter, Ab... ORPHA:2970
Auriculocondylar Syndrome
Bifid uvula, Difficulty in tongue movements, Abnormality of the temporomandibular joint, Cleft pa... ORPHA:137888
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Dental enamel pits, Taurodontia, Enamel hypomineralization, Widely spaced... ORPHA:3352
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency, Hearing impairment ORPHA:2291
Maxillonasal Dysplasia
Scoliosis, Tooth agenesis, Abnormal nostril morphology, Short nose, Mandibular prognathia, Microd... ORPHA:1248
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Regional Odontodysplasia
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... ORPHA:83450
Microphthalmia With Limb Anomalies
High palate, Low-set ears, Retrognathia, Hip dislocation, Abnormal eyelash morphology, Metatarsal... OMIM:206920
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Intellectual Developmental Disorder, Autosomal Dominant 21
Low-set ears, Long eyelashes, Posteriorly rotated ears, Cleft palate, Narrow mouth, Long philtrum... OMIM:615502
Brachydactyly, Type B1
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Vertebral fusion, Micropen... OMIM:113000
Microphthalmia, Lenz Type
Cataract, Hydronephrosis, Camptodactyly of finger, Iris coloboma, Long thorax, Hydroureter, Finge... ORPHA:568
Tooth Agenesis, Selective, 9
Taurodontia, Microdontia, Selective tooth agenesis OMIM:617275
Anencephaly 2
Median cleft palate, Anencephaly, Cleft maxillary alveolar ridge, Median cleft lip, Anophthalmia,... OMIM:619452
49,Xxxxy Syndrome
Chronic otitis media, Scoliosis, Hip dislocation, Depressed nasal ridge, Taurodontia, Mandibular ... ORPHA:96264
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Tooth agenesis, Mandibular prognathia, Alopecia, Hearing impairment, Delayed eruption of teeth, A... ORPHA:2325
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Abnormal nasal morphology, Bilateral cleft lip and palate, Spi... ORPHA:1104
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Thoracic dysplasia, Horizontal ribs, Nephrocalcinosis, Lateral clavicle hook, Postaxial polydacty... OMIM:615633
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Cofs Syndrome
Cataract, Camptodactyly of finger, Prominent metopic ridge, Joint stiffness, Short neck, Death in... ORPHA:1466
Smith-Magenis Syndrome
Chronic otitis media, Open mouth, Scoliosis, Conductive hearing impairment, Synophrys, Short nose... ORPHA:819
Catifa Syndrome
Tooth malposition, Cleft lip, Anteverted nares, Cleft palate, Long philtrum, Delayed eruption of ... OMIM:618761
Poland Syndrome
Short ribs, Syndactyly, Hemivertebrae, Unilateral oligodactyly, Sprengel anomaly, Unilateral brac... OMIM:173800
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Hypertrophy of the urinary bladder, Renal dysplasia, Talipes equinovarus, Sprengel anomaly, Ureth... OMIM:601389
Carpenter Syndrome 1
Hydroureter, Preaxial foot polydactyly, Aplasia/Hypoplasia of the middle phalanges of the toes, T... OMIM:201000
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy OMIM:600057
Coffin-Siris Syndrome 3
Macroglossia, High palate, Scoliosis, Long eyelashes, Umbilical hernia, Delayed eruption of perma... OMIM:614608
Camptodactyly Syndrome, Guadalajara Type 1
Abnormality of dental eruption, High palate, Camptodactyly of finger, Low-set, posteriorly rotate... ORPHA:1327
Intellectual Developmental Disorder, X-Linked 90
Malar flattening, High palate, Bifid uvula OMIM:300850
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis OMIM:619281
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Nephrolithiasis, Hematuria, Urolithiasis,... OMIM:614723
Basal Cell Nevus Syndrome 1
Cataract, Down-sloping shoulders, Palmar pits, Iris coloboma, Polydactyly, Spina bifida, Short ri... OMIM:109400
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Pigmentary retinopathy, Rod-cone dystrophy, Renal hypoplasia, Brachydactyly OMIM:600151
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... ORPHA:3202
Congenital Disorder Of Glycosylation, Type Iig
Upslanted palpebral fissure, Thoracic scoliosis, Single transverse palmar crease, Kyphoscoliosis,... OMIM:611209
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Hemivertebrae, Vertebral clefting, Rib fusion, Vertebral segmentation defect OMIM:608681
Bardet-Biedl Syndrome 5
Micropenis, Polydactyly, Syndactyly, Macular dystrophy, Rod-cone dystrophy, Brachydactyly OMIM:615983
Adult Idiopathic Neutropenia
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Pierre Robin Sequence With Facial And Digital Anomalies
Cleft palate, Glossoptosis, Micrognathia, Pierre-Robin sequence, Easily subluxated first metacarp... OMIM:311895
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Epicanthus, Short neck, Metaphyseal widening, Ulnar deviation of the... OMIM:263210
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Scoliosis, Short thorax, Short neck, Abnormal form of the vertebral bodi... ORPHA:2311
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Sensorineural hearing impairment, Gingival over... ORPHA:2027
Atkin-Flaitz Syndrome
Broad nasal tip, Abnormality of the dentition, Anteverted nares, Everted lower lip vermilion, Mac... ORPHA:1193
Duane-Radial Ray Syndrome
Short thumb, Optic disc hypoplasia, Horseshoe kidney, Aplasia of metacarpal bones, Shoulder dislo... OMIM:607323
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... OMIM:616002
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Abnormality of the dentition, Agenesis of permanent teeth, Fine hair, Abnormality ... ORPHA:2228
Bardet-Biedl Syndrome 19
Hydronephrosis, Postaxial polydactyly, Renal insufficiency, Rod-cone dystrophy, Renal hypoplasia OMIM:615996
Cockayne Syndrome Type 2
Scoliosis, Widely spaced primary teeth, Anodontia, Mandibular prognathia, Enamel hypoplasia, Kyph... ORPHA:90322
Renal Hypoplasia
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... ORPHA:93101
Zimmermann-Laband Syndrome
Macroglossia, High palate, Long eyelashes, Facial hypertrichosis, Bifid uvula, Thickened ears, Gi... ORPHA:3473
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Epicanthus, Hip dislocation, Long clavicles, Rocker bottom foot, Intercrural pterygium... OMIM:265000
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Broad nasal tip, Scoliosis, Congenital hip dislocation, Lumbar hyperlord... OMIM:619719
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Polycystic kidney dysplasia, Death in childhood, Epicanthus, Camptodactyly, Cat... OMIM:214110
Elsahy-Waters Syndrome
Bifid uvula, Thick eyebrow, Supernumerary tooth, Anal stenosis, Thick lower lip vermilion, Malar ... OMIM:211380
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Scoliosis, Short neck, Missing ribs, Upslanted palpebral fissure, Abn... ORPHA:1797
Czeizel-Losonci Syndrome
Hydronephrosis, 2-3 finger syndactyly, 3-4 finger syndactyly, Spina bifida, Myelomeningocele, Hyd... ORPHA:2437
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Spondylocostal Dysostosis 5
Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Missing ribs, Hemive... OMIM:122600
Trichorhinophalangeal Syndrome Type 1
High palate, Scoliosis, Camptodactyly of finger, Abnormality of the dentition, Protruding ear, Sp... ORPHA:77258
Microphthalmia With Brain And Digit Anomalies
Cataract, Postaxial foot polydactyly, Iris coloboma, Proximal placement of thumb, Finger syndacty... ORPHA:139471
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Spasticity, Scoliosis, Pigmentary retinopathy, Hammertoe, Babinski sign OMIM:619090
Liang-Wang Syndrome
Macroglossia, Diastema, Synophrys, Everted lower lip vermilion, Downturned corners of mouth, Ging... OMIM:618729
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Conductive hearing impairment, Protruding ear, Trismus, Alopecia, Cleft palate, Eve... OMIM:616367
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Microphthalmia OMIM:600776
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Temple Syndrome
High palate, Scoliosis, Bifid uvula, Hydrocephalus, Posteriorly rotated ears, Cleft palate, Wide ... OMIM:616222
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Scoliosis, Prominent nasal bridge, Underdeveloped nasal alae, Anteverted nares, Dent... OMIM:618825
Trichorhinophalangeal Syndrome Type 2
Low-set, posteriorly rotated ears, Abnormality of the dentition, Conductive hearing impairment, A... ORPHA:502
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Thoracic dysplasia, Polycystic kidney dysplasia, Short distal phalanx of finger, Epicanthus, Poly... OMIM:614091
Posterior Column Ataxia With Retinitis Pigmentosa
Recurrent urinary tract infections, Cataract, Camptodactyly, Scoliosis, Ataxia, Pigmentary retino... OMIM:609033
Fibular Hemimelia
Oligodactyly, Increased laxity of ankles, Short tibia, Toe syndactyly, Short toe, Fibular aplasia... ORPHA:93323
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Avascular necrosis of the capital femoral epiphysis, Reduced renal corticomedullary ... OMIM:611555
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Iris coloboma, Syndactyly, Microphthalmia, Coloboma, Clinodac... OMIM:610023
Bardet-Biedl Syndrome 14
Renal insufficiency, Rod-cone dystrophy, Polydactyly OMIM:615991
Coloboma Of Macula With Type B Brachydactyly
Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal phalanx of the thumb, Ty... OMIM:120400
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Trisomy 17P
Cataract, Polycystic kidney dysplasia, Hydronephrosis, Scoliosis, Prominent metopic ridge, Short ... ORPHA:261290
Trisomy 4P
Low-set, posteriorly rotated ears, Camptodactyly of finger, Scoliosis, Abnormal palate morphology... ORPHA:1738
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Scoliosis, Enlarged kidney, Cone-shaped epiphysis, Brachydactyly, Ho... OMIM:613091
Robinow Syndrome, Autosomal Recessive 1
Short distal phalanx of finger, Scoliosis, Renal duplication, Nephrocalcinosis, Aplasia/Hypoplasi... OMIM:268310
48,Xxxy Syndrome
Chronic otitis media, Scoliosis, Hip dislocation, Depressed nasal ridge, Taurodontia, Mandibular ... ORPHA:96263
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Low-set ears, Retrognathia, Open mouth, Protruding ear, Persistence of primary teeth... OMIM:618342
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Low-set ears, Severe sensorineural hearing impairment, Oligodont... ORPHA:363417
Aarskog-Scott Syndrome
Camptodactyly of finger, Low-set, posteriorly rotated ears, External ear malformation, Abnormalit... ORPHA:915
Momo Syndrome
High palate, Taurodontia, Underfolded helix, Dental malocclusion, Long philtrum, Delayed eruption... OMIM:157980
Spinocerebellar Ataxia, Autosomal Recessive 20
Macroglossia, High palate, Scoliosis, Wide nasal base, Hypertrichosis, Broad philtrum, Anteverted... OMIM:616354
Oculofaciocardiodental Syndrome
Oligodontia, Scoliosis, Tooth malposition, Solitary median maxillary central incisor, Cleft palat... ORPHA:2712
Axial Spondylometaphyseal Dysplasia
Scoliosis, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proxi... ORPHA:168549
Smith-Magenis Syndrome
Scoliosis, Abnormality of the dentition, Malar flattening, Synophrys, Mandibular prognathia, Hear... OMIM:182290
Ramon Syndrome
Conductive hearing impairment, Gingival fibromatosis, Narrow palate, Delayed eruption of teeth, S... ORPHA:3019
Tooth Agenesis, Selective, 3
Agenesis of permanent molar, Oligodontia, Microdontia, Oligodontia of primary teeth, Abnormal hai... OMIM:604625
Cerebrooculonasal Syndrome
Solitary median maxillary central incisor, Optic nerve hypoplasia, Cleft palate, Narrow palate, S... OMIM:605627
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Renal cyst, Renal hypoplasia, Neonatal death, Stillbirth, Cutaneous syndactyly, ... OMIM:236500
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Prominent nasal bridge, Platyspondyly, Delayed eruption of teeth, Sensorineural hearing impairmen... ORPHA:71267
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:615990
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Scoliosis, Congenital hip dislocation, Widely spaced teeth, Dislocation of the femoral head, Kyph... OMIM:619797
Holoprosencephaly 9
Prominent antihelix, Solitary median maxillary central incisor, Optic nerve hypoplasia, Cleft pal... OMIM:610829
Aicardi Syndrome
Hip dysplasia, Missing ribs, Retinal detachment, Microphthalmia, Abnormality of retinal pigmentat... ORPHA:50
Mucopolysaccharidosis, Type Ix
Chondrocalcinosis, Popliteal synovial cyst, Bifid uvula, Lumbar scoliosis, Submucous cleft hard p... OMIM:601492
Burn-Mckeown Syndrome
Bilateral choanal atresia/stenosis, Conductive hearing impairment, Prominent nasal bridge, Bifid ... OMIM:608572
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Severe sensorineural hearing impairment, Hip dislocation, Bilateral cleft lip and palate, Tooth a... ORPHA:2003
Acrorenal-Mandibular Syndrome
Polycystic kidney dysplasia, Epicanthus, Hip dislocation, Thin ribs, Toe syndactyly, Hypoplasia o... OMIM:200980
Cleidocranial Dysplasia
Chronic otitis media, Scoliosis, Dystrophic toenail, Cleft palate, Hearing impairment, Supernumer... ORPHA:1452
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Scoliosis, Epicanthus, Thick eyebrow, Upslanted palpebral fissure, Long fingers, Highly arched ey... OMIM:213980
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Ankle clonus, Bifid uvula, Cleft palate ORPHA:506353
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Synophrys, Bilateral sensorineural hearing impairment, Deep philtrum, Talon cusp, Micro... OMIM:605282
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Tooth agenesis, Selective tooth agenesis, Anodontia, Aplasia of the maxilla, Agenesi... OMIM:313500
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Scoliosis, Hand polydactyly, Speech apraxia, Rib fusion, Multicystic kidney dys... ORPHA:261197
Spondylocostal Dysostosis 4, Autosomal Recessive
Pectus excavatum, Abnormality of the odontoid process, Scoliosis, Vertebral fusion, Neurogenic bl... OMIM:613686
Metatropic Dysplasia
Scoliosis, Relatively short spine, Anisospondyly, Flared iliac wing, Halberd-shaped pelvis, Metap... OMIM:156530
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly OMIM:607539
Nanophthalmos 4
Microphthalmia OMIM:615972
Mesomelia-Synostoses Syndrome
Aplasia/Hypoplasia of the uvula, Abnormality of the knee, Malar flattening, Metatarsal synostosis... ORPHA:2496
Sweeney-Cox Syndrome
Broad nasal tip, Prominent metopic ridge, Choanal atresia, Hearing impairment, Narrow mouth, Cupp... OMIM:617746
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis, Splenomegaly OMIM:185000
Coffin-Siris Syndrome 2
Macroglossia, High palate, Long eyelashes, Abnormal pinna morphology, Low anterior hairline, Thic... OMIM:614607
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Depressed nasal bridge, Scoliosis, Low-set ears, Abnormal nasal morphology, Bifid uvula, Deep phi... ORPHA:404440
Bardet-Biedl Syndrome 16
Stage 5 chronic kidney disease, Polydactyly, Renal cyst, Renal insufficiency, Retinal degeneratio... OMIM:615993
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula, Hearing impairment OMIM:256200
Oculodentodigital Dysplasia
Camptodactyly of finger, Tooth agenesis, Brittle hair, Cleft palate, Hearing impairment, Madelung... ORPHA:2710
Osteopathia Striata-Cranial Sclerosis Syndrome
Low-set ears, Scoliosis, Retrognathia, Conductive hearing impairment, Bifid uvula, Posteriorly ro... ORPHA:2780
Atresia Of Urethra
Recurrent urinary tract infections, Hydronephrosis, Megacystis, Hydroureter, Patent urachus, Rena... ORPHA:105
Intellectual Developmental Disorder, Autosomal Recessive 44
Bifid uvula, Anteverted nares, Long philtrum, Thin vermilion border, Depressed nasal bridge OMIM:615942
Dentinogenesis Imperfecta
Grayish enamel, Knee joint hypermobility, Abnormal dental pulp morphology, Selective tooth agenes... ORPHA:49042
Bardet-Biedl Syndrome 11
Abnormality of the kidney, Polydactyly OMIM:615988
Frank-Ter Haar Syndrome
Camptodactyly of finger, Scoliosis, Premature loss of teeth, Protruding ear, Umbilical hernia, Ma... ORPHA:137834
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Bicoronal synostosis, Scoliosis, Diastema, Kyphosis, Microdontia, Supernumerary tooth, Anosmia, A... OMIM:619718
Craniometadiaphyseal Dysplasia
Absent paranasal sinuses, High palate, Scoliosis, Low-set ears, Genu varum, Abnormally large glob... OMIM:269300
Cohen Syndrome
Open mouth, Lumbar hyperlordosis, Prominent nasal bridge, Thick eyebrow, High, narrow palate, Tho... OMIM:216550
2Q24 Microdeletion Syndrome
Cataract, Camptodactyly of finger, Bullet-shaped distal phalanx of the hallux, Microphthalmia, Lo... ORPHA:1617
Verheij Syndrome
Hip dislocation, Renal cyst, Intrauterine growth retardation, Optic nerve hypoplasia, Short 5th f... OMIM:615583
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Camptodactyly of finger, Bifid uvula, Irregular vertebral endplates, Dislocated radi... OMIM:612350
Momo Syndrome
High palate, Wide nasal base, Bilateral microphthalmos, Taurodontia, Underfolded helix, Dental ma... ORPHA:2563
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Pectus excavatum, Scoliosis, Lumbar hyperlordosis, Short thumb, O... OMIM:618167
Osteogenesis Imperfecta, Type Xii
High palate, Scoliosis, Progressive hearing impairment, Malar flattening, Wormian bones, Narrow m... OMIM:613849
Trichorhinophalangeal Syndrome, Type Iii
Scoliosis, Protruding ear, Underdeveloped nasal alae, Dental crowding, Sparse lateral eyebrow, Su... OMIM:190351
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment, Bifid uvula ORPHA:2669
Kbg Syndrome
Thick eyebrow, Single transverse palmar crease, Delayed skeletal maturation, Short neck, Epispadi... OMIM:148050
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Distal Duplication 6P
Cataract, Hydronephrosis, Long thorax, Intrauterine growth retardation, Aplasia/Hypoplasia affect... ORPHA:1745
Catel-Manzke Syndrome
Chronic otitis media, Camptodactyly of finger, Scoliosis, Low-set, posteriorly rotated ears, Mala... ORPHA:1388
Keratoconus Posticus Circumscriptus
Recurrent urinary tract infections, Short neck, Central posterior corneal opacity, Clinodactyly o... OMIM:244600
Papillorenal Syndrome
Horseshoe kidney, Multicystic kidney dysplasia, Proteinuria, Chronic kidney disease, Macular dege... OMIM:120330
Anonychia With Flexural Pigmentation
Alopecia of scalp, Carious teeth, Abnormal hair morphology, Convex nasal ridge ORPHA:69125
Biemond Syndrome Type 2
Hypospadias, Preaxial polydactyly, Microphthalmia, Hydrocephalus ORPHA:141333
Nance-Horan Syndrome
Screwdriver-shaped incisors, Diastema, Prominent nasal bridge, Microphthalmia, Mulberry molar, Ma... OMIM:302350
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Hypermelanotic macule, Kyphosis, Pectus carinatum, Spina bifida occu... ORPHA:64755
Spondylometaphyseal Dysplasia, Type A4
Enlargement of the costochondral junction, Narrow greater sciatic notch, Metaphyseal sclerosis, O... OMIM:609052
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Scoliosis, Pyloric stenosis, Bifid uvula, Cleft palate, Wide nose, Anteverted nares,... ORPHA:96184
Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Decreased glomerular filtrati... ORPHA:2260
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Knee flexion contracture, Absent uvula, Micrognathia OMIM:616531
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Macular atrophy, Optic disc pallor, Intrauterine growth retardation, Microphthalmia, Th... OMIM:616171
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Taurodontia, High, narrow palate, Macrodontia, Hypopigmentation of hair, Delayed eruption of teet... ORPHA:3214
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Re... OMIM:603860
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Low-set ears, Hip dislocation, Cleft lower alveolar ridge, Bifid uvula, Protruding e... OMIM:268305
Acro-Renal-Ocular Syndrome
Epicanthus, Optic disc hypoplasia, Short thumb, Horseshoe kidney, Short palpebral fissure, Toe sy... ORPHA:959
Pallister-Hall Syndrome
Oligodactyly, Hip dislocation, Y-shaped metacarpals, Hydroureter, Mesoaxial foot polydactyly, Toe... OMIM:146510
Microphthalmia ORPHA:35612
Craniolenticulosutural Dysplasia
Scoliosis, Bifid uvula, Brittle hair, Cleft palate, Smooth philtrum, Carious teeth, Sparse hair, ... OMIM:607812
Cloacal Exstrophy
Abnormality of fibula morphology, Hip dislocation, Myelomeningocele, Spina bifida, Horseshoe kidn... ORPHA:93929
Orofaciodigital Syndrome Iii
Low-set ears, Bifid uvula, Kyphosis, Microdontia, Supernumerary tooth, Bifid tongue, Bulbous nose... OMIM:258850
Rhyns Syndrome
Hypoplastic ilia, Abnormal long bone morphology, Nephronophthisis, Osteopenia, Abnormal acetabulu... ORPHA:140976
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Epicanthus, Scoliosis, Multiple pterygia, Popliteal pterygium, Hypoplasi... ORPHA:2990
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Wide anterior fontanel, Epiphyseal stippling OMIM:614859
Distal Triplication 15Q
Craniosynostosis, Polycystic kidney dysplasia, Hydronephrosis, Abnormality of the kidney, Dilatat... ORPHA:314588
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Hydronephrosis, Urogenital sinus anomaly, Hydroureter, Renal hypoplasia/aplasia, Abnormality of t... ORPHA:2973
Wolf-Hirschhorn Syndrome
Abnormality of the kidney, Scoliosis, Epicanthus, Short thumb, Highly arched eyebrow, Short hallu... ORPHA:280
Hajdu-Cheney Syndrome
Polycystic kidney dysplasia, Epicanthus, Pathologic fracture, Thick eyebrow, Kyphoscoliosis, Long... OMIM:102500
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Camptodactyly of finger, Low-set ears, Abnormality of the dentition, Abnormal n... ORPHA:178303
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Scoliosis, Short neck, Abnormality of the vertebral column, Renal hyp... ORPHA:2345
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Thoracolumbar scoliosis, Astigmatism, Osteopenia, Hyperpigmentation ... ORPHA:35125
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hip osteoarthritis, Hypodontia ORPHA:63442
Sjögren-Larsson Syndrome
Spasticity, Abnormal pyramidal sign, Scoliosis, Joint stiffness, Corneal erosion, Macular degener... ORPHA:816
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Abnormality of the dentition, Bifid uvula, Cleft palate, Long philtrum, Smooth philt... ORPHA:576283
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Scoliosis, Ataxia OMIM:213000
Auriculocondylar Syndrome 2
Low-set ears, Overfolding of the superior helices, Temporomandibular joint ankylosis, Posteriorly... OMIM:614669
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Low-set ears, Posteriorly rotated ears, Short nose, Delayed eruption of permanent teeth, Antevert... OMIM:618506
Hypouricemia, Renal, 1
Proteinuria, Acute kidney injury, Uric acid nephrolithiasis, Hyperuricosuria, Renal cortical hype... OMIM:220150
Acrootoocular Syndrome
Grayish enamel, Low-set ears, Wide nasal base, Conductive hearing impairment, Anodontia, Atresia ... ORPHA:2980
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Hematuria OMIM:120433
Split-Hand/Foot Malformation 3
High palate, Abnormal pinna morphology, Cleft palate, Narrow mouth, Microretrognathia, Nail dystr... OMIM:246560
Temple-Baraitser Syndrome
Thick eyebrow, High anterior hairline, Thick nasal alae, Everted upper lip vermilion, Long eyelas... ORPHA:420561
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormality of the dentition, Abnormal palate morphology, Prominent nasal bridge, Protruding ear,... ORPHA:3270
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Protruding ear, Bifid uvula, Posteriorly rotated ears, Mandibular prognathia, Deep philtrum, Lumb... OMIM:618622
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Narrow chest, 11 pairs of ribs, Renal hypoplasia OMIM:617661
Cenani-Lenz Syndactyly Syndrome
Pectus excavatum, Ectopic kidney, Syndactyly, Radioulnar synostosis, Broad hallux, Hypoplasia of ... OMIM:212780
Cranioectodermal Dysplasia 4
Protruding ear, Taurodontia, Anteverted nares, Smooth philtrum, Thin vermilion border, Sagittal c... OMIM:614378
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Renal cyst, Occipital encephalocele, Microphthalmia, Anencephaly, Pos... OMIM:611561
Tonne-Kalscheuer Syndrome
Prominent nasal bridge, Malar flattening, Fine hair, Widely spaced teeth, Micrognathia, Narrow mo... OMIM:300978
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Small thenar eminence, Joint contracture of the 5th finger, Umbilical hernia, Micr... OMIM:618914
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Hydroureter, Carpal synostosis, Interphalangeal joint contracture of fin... OMIM:305620
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Taurodontia OMIM:272700
Orofaciodigital Syndrome Type 2
Protruding ear, Cleft palate, Bifid tongue, Conductive hearing impairment, Submucous cleft soft p... ORPHA:2751
Metatropic Dysplasia
Cataract, Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Long thorax, Joint ... ORPHA:2635
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Carpal synostosis, Bowed humerus, Delayed skeletal maturation, Coxa vara, Brachydactyl... OMIM:272460
Auriculocondylar Syndrome 3
Retrognathia, Bifid uvula, Glossoptosis, Stenosis of the external auditory canal, Micrognathia, B... OMIM:615706
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micropenis, Umbilical hernia, Toe syndactyly, Pectus carinatum, Radioulnar synostosis, Short palm... ORPHA:171839
Parc Syndrome
Alopecia, Absent eyelashes, Cleft palate, Absent eyebrow, Microretrognathia OMIM:600331
Orofaciodigital Syndrome Xvii
Micropenis, Polydactyly, Clubbing of fingers, Partial duplication of thumb phalanx, Short middle ... OMIM:617926
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Camptodactyly of finger, Prominent nasal bridge, Protruding ear, Patchy alopecia, Hy... ORPHA:85279
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Retinal atrophy, Metaphyseal irregularity, Bowing of the legs, Short pha... ORPHA:85167
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Short distal phalanx of finger, Short thumb, Proximal placement o... ORPHA:90650
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Polydactyly, Renal cyst, Syndactyly, Retinal degeneration, Rod-cone dy... OMIM:615982
Holoprosencephaly 7
Median cleft lip and palate, Unilateral cleft lip, Solitary median maxillary central incisor, Cle... OMIM:610828
Severe Oculo-Renal-Cerebellar Syndrome
Spasticity, Cataract, Proteinuria, Scoliosis, Glomerulopathy, Hypopigmented skin patches, Abnorma... ORPHA:2715
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence, Micrognathia OMIM:172880
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal hair quantity, Camptodactyly of finger, Abnormality of the dentition, Abnormal eyebrow m... ORPHA:3220
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Abnormal eyebrow morphology, Hypodontia, Delayed eruption of teeth, Depressed nasal ridge, Genera... ORPHA:1816
Nance-Horan Syndrome
Abnormality of the dentition, Prominent nasal bridge, Protruding ear, Mandibular prognathia, Micr... ORPHA:627
Aredyld Syndrome
Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Scoliosis, Sparse body hair, Abnorm... ORPHA:1133
Stickler Syndrome Type 1
Short nose, Osteoarthritis, Cleft palate, Platyspondyly, Abnormality of vertebral epiphysis morph... ORPHA:90653
Codas Syndrome
Cataract, Congenital hip dislocation, Hydroureter, Short metacarpal, Abnormal epiphysis morpholog... ORPHA:1458
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Retinal detachment, Microphthalmia, Posterior embryotoxon, Chorioretinal... ORPHA:1473
Coffin-Siris Syndrome 11
Uplifted earlobe, Esophageal atresia, High palate, Prominent metopic ridge, Bifid uvula, Low post... OMIM:618779
Spinocerebellar Ataxia 43
Distal sensory impairment, Limb ataxia, Lower limb pain, Ataxia, Rigidity, Tremor, Gait ataxia, P... OMIM:617018
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Lujan-Fryns Syndrome
High palate, Camptodactyly of finger, Scoliosis, Prominent nasal bridge, Protruding ear, Low-set ... ORPHA:776
Dental Anomalies And Short Stature
Oligodontia, Scoliosis, Widely spaced teeth, Amelogenesis imperfecta, Mandibular prognathia, Micr... OMIM:601216
Juberg-Hayward Syndrome
Scoliosis, Short thumb, Abnormal eyebrow morphology, Horseshoe kidney, Abnormal finger morphology... ORPHA:2319
Growth Hormone Insensitivity Syndrome
Fine hair, Delayed eruption of teeth, Everted lower lip vermilion, Hearing impairment ORPHA:181393
Trisomy 1Q
Anal atresia, Camptodactyly of finger, Low-set ears, Hydrocephalus, Wide nose, Cleft palate, Abno... ORPHA:261344
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Prominent metopic ridge, Protruding ear, Synophrys, Mandibular prognathia, Kyphosis, C... ORPHA:85317
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Protruding ear, Osteoarthritis, Narrow palate, Slow-growing hair, Carious teeth, Spars... OMIM:190350
Autosomal Recessive Robinow Syndrome
Short distal phalanx of finger, Scoliosis, Epicanthus, Camptodactyly of finger, Upslanted palpebr... ORPHA:1507
Trisomy X
Pectus excavatum, Epicanthus, Hip dysplasia, Renal hypoplasia/aplasia, Upslanted palpebral fissur... ORPHA:3375
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pinna ... OMIM:128980
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Joubert Syndrome 15
Exencephaly, Nephronophthisis, Micropenis, Preaxial polydactyly OMIM:614464
Prune Belly Syndrome
Hydronephrosis, Pectus excavatum, Congenital hip dislocation, Hydroureter, Pectus carinatum, Cong... OMIM:100100
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Retrognathia, Bifid uvula, Submucous cleft hard palate, Mandibular progn... ORPHA:2521
Craniolenticulosutural Dysplasia
High palate, Scoliosis, Premature loss of teeth, Prominent nasal bridge, Posterior wedging of ver... ORPHA:50814
Santos Syndrome
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... OMIM:613005
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the wrist, Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Sho... ORPHA:1529
Branchiootorenal Syndrome 1
High palate, Cholesteatoma, Congenital hip dislocation, Conductive hearing impairment, Bifid uvul... OMIM:113650
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Aicardi Syndrome
Cataract, Proximal placement of thumb, Spina bifida, Missing ribs, Retinal detachment, Microphtha... OMIM:304050
Amelogenesis Imperfecta, Type Ic
Taurodontia, Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion,... OMIM:204650
X-Linked Intellectual Disability Due To Gria3 Mutations
Uplifted earlobe, Open mouth, Scoliosis, Short upper lip, Malar flattening, Mandibular prognathia... ORPHA:364028
Beaulieu-Boycott-Innes Syndrome
Long nose, High anterior hairline, Dental malocclusion, Velopharyngeal insufficiency, Carious tee... OMIM:613680
Joubert Syndrome 16
Retinal dystrophy, Encephalocele, Polydactyly, Renal cyst, Nephronophthisis, Coloboma OMIM:614465
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Oligodontia, Scoliosis, Protein-losing enteropathy, Narrow mouth, Narrow palate, Smooth philtrum,... OMIM:235510
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Low-set, posteriorly rotated ears, Scoliosis, Abnormal palate morphology,... ORPHA:2617
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Irregular hyperpigmentation, Melanocytic nevus, Hypopigmented skin patches ORPHA:2435
Polydactyly, Preaxial Iv
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... OMIM:174700
Cerebrooculofacioskeletal Syndrome 1
Prominent nasal bridge, Abnormality of the ear, Knee flexion contracture, Microphthalmia, Long ph... OMIM:214150
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Abnormal mandible morphology, Natal tooth, Cleft palate OMIM:217150
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Platyspondyly, Multiple small vertebral fractures, Thin vermilion border... OMIM:156510
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Low-set ears, Conductive hearing impairment, Underdeveloped tragus, Malar flatteni... ORPHA:79113
Kleefstra Syndrome 2
Scoliosis, Bifid uvula, Thick eyebrow, Kyphosis, Everted lower lip vermilion OMIM:617768
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor, Coarse hair, Tiger tail banding OMIM:616390
Adams-Oliver Syndrome 4
Umbilical hernia, Microphthalmia, Aplasia of the middle phalanx of the 4th toe, Short toe, Absent... OMIM:615297
Stickler Syndrome, Type I
Scoliosis, Conductive hearing impairment, Bifid uvula, Malar flattening, Arthropathy, Submucous c... OMIM:108300
Myopathy, Centronuclear, 5
High palate, Retrognathia, Bifid uvula, Narrow mouth, Hip contracture, Micrognathia OMIM:615959
Orofaciodigital Syndrome Xix
Narrow mouth, Narrow palate, Thick nasal alae, Cupped ear, Carious teeth, Lobulated tongue, Cleft... OMIM:620107
Kbg Syndrome
Scoliosis, Vertebral fusion, Thoracic kyphosis, Persistent open anterior fontanelle, Short neck, ... ORPHA:2332
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
High anterior hairline, Low-set ears, Notched primary central incisor, Sparse scalp hair OMIM:620062
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
Congenital Muscular Dystrophy With Intellectual Disability
Scoliosis, Hip dislocation, Decreased cervical spine mobility, Micropenis, Poor gross motor coord... ORPHA:370968
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia ORPHA:83461
Cleft Velum
Conductive hearing impairment, Recurrent otitis media, Velopharyngeal insufficiency, Cleft soft p... ORPHA:99772
Cleft Palate, Isolated
Cleft palate, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Increased overbite OMIM:119540
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Hip dislocation, Thoracic kyphoscoliosis, Alopecia, Large fleshy ears, Carious teeth, Prominent n... OMIM:203550
Joubert Syndrome 7
Scoliosis, Oculomotor apraxia, Stage 5 chronic kidney disease, Ataxia, Renal cyst, Postaxial poly... OMIM:611560
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short distal phalanx of finger, Scoliosis, Vertebral wedging, Biconvex vertebral bodies, Metaphys... ORPHA:93315
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Scoliosis, Bifid uvula, Anteverted nares, Cleft palate, Hearing impairment, Wide nasal bridge, Bu... OMIM:300958
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Scoliosis, Tooth agenesis, Irregular vertebral endplates, Coronal cleft vertebrae, M... OMIM:618363
Mosaic Trisomy 14
High palate, Camptodactyly of finger, Low-set, posteriorly rotated ears, Prominent nasal bridge, ... ORPHA:1703
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Scoliosis, Prominent nasal bridge, Mandibular prognathia, Kyphosis, Hypoplasia of th... OMIM:300676
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Scoliosis, Abnormal renal collecting system morphology, Upslanted pa... OMIM:134780
Meckel Syndrome, Type 2
Encephalocele, Polydactyly, Renal cyst, Meningocele, Microphthalmia, Anencephaly, Postaxial hand ... OMIM:603194
Mullegama-Klein-Martinez Syndrome
Scoliosis, Bifid uvula, Cleft palate, High anterior hairline, Smooth philtrum, Wide nasal bridge,... OMIM:301022
Bardet-Biedl Syndrome 9
Cataract, Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Astigmatism, Renal insu... OMIM:615986
Hall-Riggs Syndrome
Scoliosis, Thick hair, Anteverted nares, Platyspondyly, Coarse hair, Downturned corners of mouth,... ORPHA:2107
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Fetal megacystis, Megacystis OMIM:619362
Gorlin Syndrome
Cataract, Palmar pits, Scoliosis, Vertebral fusion, Epicanthus, Iris coloboma, Vertebral wedging,... ORPHA:377
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Microdontia, Everted lower lip vermilion, Delayed eruption of teeth, Depressed ... ORPHA:181
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Cri-Du-Chat Syndrome
High palate, Scoliosis, Low-set ears, Bifid uvula, Abnormal pinna morphology, Premature graying o... OMIM:123450
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Short 1st metacarpal, Vesicoureteral reflux, Short thumb, Horseshoe ki... OMIM:609053
Acrocraniofacial Dysostosis
Craniosynostosis, Abnormality of the incus, Low-set, posteriorly rotated ears, Conductive hearing... ORPHA:949
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Crouzon Syndrome
Multiple suture craniosynostosis, Conductive hearing impairment, Hydrocephalus, Choanal atresia, ... ORPHA:207
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnorma... ORPHA:2790
Marshall Syndrome
Knee osteoarthritis, Low-set ears, Bifid uvula, Malar flattening, Short nose, Absent frontal sinu... OMIM:154780
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Thoracic dysplasia, Polycystic kidney dysplasia, Horizontal ribs, Micropenis, Lateral clavicle ho... OMIM:263520
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Carnosinuria, Spastic paraplegia, Abnormality of skin pigmentation, Abnormality of retinal pigmen... OMIM:236130
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Multicystic kidney dysplasia, Nephropathy ORPHA:1909
Renal Coloboma Syndrome
Renal insufficiency, Renal dysplasia, Optic nerve dysplasia, Optic disc coloboma, Vesicoureteral ... ORPHA:1475
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Decreased glomerular filtration rate... OMIM:618061
Cone-Rod Dystrophy 16
Cataract, Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Postaxial polyda... OMIM:614500
Acrofacial Dysostosis, Weyers Type
Conical tooth, Abnormality of the dentition, Nail dystrophy, Abnormal antihelix morphology, Solit... ORPHA:952
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Protruding ear, Synophrys, Thick eyebrow, Smooth philtrum, Bulbous nose, ... OMIM:618737
Ring Chromosome 14 Syndrome
Epicanthus, Short neck, Pigmentary retinopathy, Downslanted palpebral fissures, Blepharophimosis,... OMIM:616606
Peroxisome Biogenesis Disorder 5A (Zellweger)
Polycystic kidney dysplasia, Epicanthus, Pigmentary retinopathy, Optic nerve dysplasia, Epiphysea... OMIM:614866
Aase-Smith Syndrome
Camptodactyly of finger, Scoliosis, Abnormal pinna morphology, Trismus, Cleft palate ORPHA:916
Barber-Say Syndrome
Hypoplastic nipples, Widely spaced teeth, Hearing impairment, Sparse eyebrow, Thin vermilion bord... OMIM:209885
Uvula, Bifid
Bifid uvula OMIM:192100
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Microphthalmia, Hypoplasia of penis, Sclerocornea, 11 pairs of ribs, Anophthalmia,... ORPHA:77298
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Dislocation Of The Hip-Dysmorphism Syndrome
Congenital hip dislocation, Abnormal palate morphology, Abnormality of the knee, Malar flattening... ORPHA:2412
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Scoliosis, Vertebral fusion, Supernumerary vertebrae, Short neck, Short ribs, Mis... OMIM:271520
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Conductive hearing impairment, Abnormal antihelix morphology, Supernumerary tooth, Carious teeth,... ORPHA:3145
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Short neck, Abnormality of the ureter, Abnormal hip bone morphology, Kyphosis, ... ORPHA:2522
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia OMIM:613839
Congenital conductive hearing impairment, Encephalocele, Camptodactyly of finger, Scoliosis, Lumb... ORPHA:391474
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Enamel hypoplasia, Alopecia, Yellow nails, Sparse lateral eyebrow, Carious teeth... OMIM:614564
Scoliosis, Generalized joint laxity, Wind-swept deformity of the knees, Increased laxity of ankle... ORPHA:750
Rothmund-Thomson Syndrome, Type 2
Prominent antihelix, Agenesis of permanent teeth, Absent eyelashes, Supernumerary tooth, Sparse e... OMIM:268400
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Long nose, Anal atresia, Abnormality of the dentition, Retrognathia, Hearing impairment, High ant... ORPHA:363444
Hallermann-Streiff Syndrome
Scoliosis, Selective tooth agenesis, Narrow mouth, Narrow palate, Supernumerary tooth, Thin vermi... OMIM:234100
Microphthalmia, Isolated 8
Retinal detachment, Microphthalmia, Retinal coloboma, Optic nerve hypoplasia, True anophthalmia, ... OMIM:615113
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Spondylolisthesis, Carpal synostosis, Multiple pterygia, Popliteal pterygium, Cutaneou... OMIM:178110
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Th... OMIM:617021
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis, Intrauterine growth retardation OMIM:617564
Oliver-Mcfarlane Syndrome
Long eyelashes, Central heterochromia, Pigmentary retinopathy, Hypoplasia of penis, Retinal degen... OMIM:275400
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Congenital hip dislocation, Delayed eruption of teeth, Wormian bones OMIM:614450
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Camptodactyly, Scoliosis, Ataxia, Pigmentary retinopathy, Truncal titubation, Impaired ... ORPHA:88628
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Cerebrooculofacioskeletal Syndrome 3
Cleft palate, Low-set ears, Microphthalmia, Micrognathia OMIM:616570
Lessel-Kubisch Syndrome
Premature grayi