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Gene: Bmp7 MGI:103302

Gene Summary

Name:

bone morphogenetic protein 7

Synonyms:

osteogenic protein 1, OP1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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		Bmp7^{tm1a(EUCOMM)Hmgu}	HET		Early adult	5.40×10^-05
increased monocyte cell number		Bmp7^{tm1a(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.

Human diseases associated with Bmp7 (0 diseases)
Human diseases predicted to be associated with Bmp7 (2507 diseases)

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	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	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	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	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Otodental Syndrome	Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Anteverted nares, Abn...	ORPHA:2791
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin...	ORPHA:199306
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Postaxial foot polydactyly, Col...	OMIM:615665
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Otodental Dysplasia	Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Sensorineural hearing impairme...	OMIM:166750
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthis...	OMIM:184260
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Dental crowding, Anteverted nares, Posteriorly rotated ears, Underdevel...	OMIM:619941
Gombo Syndrome	Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Femoral-Facial Syndrome	Short femur, Renal hypoplasia/aplasia, Abnormal sacrum morphology, Long penis, Abnormal rib morph...	ORPHA:1988
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Chromosome 22Q11.2 Duplication Syndrome	Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, Depressed nasal ridge, Hig...	OMIM:608363
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia	OMIM:616871
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:616428
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract...	ORPHA:2547
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormal thumb morpholog...	ORPHA:3266
Rubinstein-Taybi Syndrome 2	Thick eyebrow, Posteriorly rotated ears, Intestinal malrotation, Highly arched eyebrow, Prominent...	OMIM:613684
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hydronephrosi...	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	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Intellectual Disability, Birk-Barel Type	Narrow nasal bridge, Tented upper lip vermilion, Highly arched eyebrow, Broad nasal tip, Microgna...	ORPHA:166108
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Small for gestational age, Renal agenesis, Abnormal thorax morphology, Upper limb pho...	ORPHA:294975
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Trichodentoosseous Syndrome	Microdontia, Taurodontia, Widely spaced teeth, Abnormal hair morphology	OMIM:190320
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Jeune Syndrome	Abnormality of retinal pigmentation, Abnormal clavicle morphology, Toe syndactyly, Renal insuffic...	ORPHA:474
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Epicanthus, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Mi...	OMIM:617866
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Epicanthus, Synophrys, Abnormality of the elbow, Abnormal rib morphology, Dela...	ORPHA:3268
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti...	ORPHA:2222
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola...	ORPHA:2972
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Polycysti...	OMIM:613885
Microphthalmia, Syndromic 12	Anophthalmia, Intestinal malrotation, Micrognathia, Broad nasal tip, Wide nasal bridge, Cleft pal...	OMIM:615524
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Ataxia, Retinal dystrophy, Chronic kidney disease,...	ORPHA:3156
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol...	OMIM:277300
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Synophrys, Oligodontia, Prominence of the zygomatic bone, Small earlo...	ORPHA:364577
Arthrogryposis, Distal, Type 1C	Pursed lips, Hip contracture, Camptodactyly of finger, Cleft lip, Elbow flexion contracture, Clef...	OMIM:619110
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Depressed nasal b...	ORPHA:2025
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Kyphosis, Dental malocclusion, Microtia, Pat...	OMIM:141300
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Ptosis, Epicanthus, Abnormality of retinal pigmentation, Down-sloping shoulders, Abnormal retinal...	ORPHA:1390
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Depressed nasal ...	OMIM:129400
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Mohr Syndrome	Median cleft lip, Depressed nasal bridge, Wormian bones, Accessory oral frenulum, Broad nasal tip...	OMIM:252100
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Zimmermann-Laband Syndrome 3	Thick hair, Broad nasal tip, Kyphosis, Synophrys, Thick lower lip vermilion, Low anterior hairlin...	OMIM:618658
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars...	OMIM:616788
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Abnormal dental enamel morphology, Open bite, Carious teeth...	ORPHA:10
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Cranioectodermal Dysplasia	Anteverted nares, Abnormal dental enamel morphology, Craniosynostosis, Abnormality of the dentiti...	ORPHA:1515
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Convex nasal ridge, Cleft palate	OMIM:600252
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Wi...	ORPHA:2863
Acrofacial Dysostosis, Palagonia Type	Posteriorly rotated ears, Sparse eyelashes, Micrognathia, High, narrow palate, Supernumerary toot...	ORPHA:1787
Apert Syndrome	Delayed eruption of teeth, Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Convex...	ORPHA:87
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Rhegmatogenous retinal detachment, Abnormality ...	ORPHA:485
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Anteverted nares, Genu recurvatum, Broad nasal tip, Kyphosis, T...	OMIM:300602
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Attenuation of retinal blood vessels, Cataract, Rhizomelia, Proteinuria, Glomerulonephritis, Shor...	OMIM:614376
Oculocerebrocutaneous Syndrome	Alopecia, Congenital hip dislocation, Cleft ala nasi, Anophthalmia, Orbital encephalocele, Cleft ...	OMIM:164180
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Tapered finger, Nephrolithiasis, Vesicoureteral reflux, Hip dysplasia, Talipes equin...	OMIM:617219
Stickler Syndrome, Type Ii	Arthropathy, Anteverted nares, Depressed nasal bridge, Micrognathia, High, narrow palate, Sensori...	OMIM:604841
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Death in infancy, Unilateral renal agenesis, Short thorax, Urete...	OMIM:618845
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Cardiocranial Syndrome, Pfeiffer Type	Low-set, posteriorly rotated ears, Contracture of the proximal interphalangeal joint of the 2nd f...	ORPHA:2872
Frontonasal Dysplasia 1	Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxilla, Widow's peak, Hypo...	OMIM:136760
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Synophrys, Hemivertebrae, Anteverted nares, Highly arched eyebrow, Wide nasal bridge, Lobar holop...	OMIM:614701
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Clef...	ORPHA:2015
Lowry-Maclean Syndrome	Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High...	ORPHA:2409
Holzgreve Syndrome	Hand polydactyly, Renal agenesis, Renal hypoplasia	OMIM:236110
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Thick eyebrow, Abnormality of the dentition, Synophrys, Gingival fibro...	ORPHA:2026
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph...	ORPHA:884
Trisomy 13	Anophthalmia, Cataract, Displacement of the urethral meatus, Abnormal retinal vascular morphology...	ORPHA:3378
Diaphanospondylodysostosis	Short neck, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Multiple renal cysts...	ORPHA:66637
Prune Belly Syndrome	Multicystic kidney dysplasia, Congenital hip dislocation, Renal insufficiency, Hydroureter, Recur...	ORPHA:2970
Adducted Thumbs Syndrome	Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, H...	OMIM:201550
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Pyle Disease	Delayed eruption of teeth, Mandibular prognathia, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Snijders Blok-Campeau Syndrome	Prominent nose, Wide nasal bridge, Taurodontia, High palate, Widely spaced teeth, Low-set ears, S...	OMIM:618205
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal spaced incisors, Anteverted nares, Prominent nasal bridge, Broad nasal tip...	ORPHA:411986
Hydrolethalus	Low-set, posteriorly rotated ears, Anophthalmia, Micrognathia, Hydrocephalus, Submucous cleft har...	ORPHA:2189
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Arthrogryposis, Distal, Type 5	Decreased palmar creases, Absent phalangeal crease, Hypertonia, Keratoconus, Arachnodactyly, Limi...	OMIM:108145
Microphthalmia, Lenz Type	Finger syndactyly, Abnormal clavicle morphology, Hydroureter, Hypospadias, Camptodactyly of finge...	ORPHA:568
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Depressed nasal bridge, Highly arched eyebrow, Supernumerary tooth, Submucous cleft...	OMIM:617412
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Spastic Paraplegia 81, Autosomal Recessive	Ankle clonus, Sensorineural hearing impairment, Bifid uvula, Cleft palate	OMIM:618768
Bresek Syndrome	Renal dysplasia, Hypoplasia of the bladder, Optic nerve hypoplasia, Postaxial hand polydactyly, R...	ORPHA:85284
W Syndrome	Depressed nasal bridge, Broad nasal tip, Elbow dislocation, Submucous cleft hard palate, Agenesis...	ORPHA:2804
Filippi Syndrome	Underdeveloped nasal alae, Low hanging columella, Wide nasal bridge, Hypertrichosis, Thin vermili...	OMIM:272440
Meckel Syndrome 13	Ataxia, Flexion contracture, Polycystic kidney dysplasia, Oculomotor apraxia, Retinopathy	OMIM:617562
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap...	OMIM:618167
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Sparse hair, Hypoplasia of t...	OMIM:257850
Oculodentodigital Dysplasia	Dry hair, Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Conductive ...	OMIM:164200
Bardet-Biedl Syndrome 19	Cone/cone-rod dystrophy, Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, ...	OMIM:615996
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Wid...	OMIM:619736
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Sparse eyelashes, Sparse eyebrow, Abnormal tragu...	ORPHA:66625
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto...	ORPHA:137888
Tricho-Dento-Osseous Syndrome	Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ...	ORPHA:3352
Congenital Velopharyngeal Incompetence	Velopharyngeal insufficiency, Abnormal palate morphology, Hearing impairment	ORPHA:2291
Microphthalmia With Limb Anomalies	Anophthalmia, Depressed nasal bridge, Posteriorly rotated ears, Cleft upper lip, Abnormal eyelash...	OMIM:206920
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Open bite, Hypoplasia of the maxilla, Vertebral cl...	ORPHA:1248
Catifa Syndrome	Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Microtia, Increased overbit...	OMIM:618761
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Intellectual Developmental Disorder, Autosomal Dominant 21	Posteriorly rotated ears, Narrow mouth, Cleft palate, Thin vermilion border, Long eyelashes, Low-...	OMIM:615502
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Yellow-brown discoloration of the te...	ORPHA:83450
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Dela...	ORPHA:819
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Delayed eruption of teeth, Mandibular prognathia, Alopecia, Sparse scalp hair, Abnormal dental en...	ORPHA:2325
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Nephrocalcinosis, Short long bo...	OMIM:615633
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Choanal atresia, Spina bifida, Abnormal nasal mo...	ORPHA:1104
Cofs Syndrome	Abnormality of retinal pigmentation, Prominent metopic ridge, Cataract, Death in infancy, Camptod...	ORPHA:1466
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy	OMIM:600057
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Microcornea, Clinodactyly of the 5th finger, S...	OMIM:201000
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Rib fusion, Short r...	OMIM:173800
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Vertebral segmentati...	OMIM:611209
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruc...	OMIM:601389
Basal Cell Nevus Syndrome 1	Cataract, Down-sloping shoulders, Spina bifida, Palmar pits, Irregular ossification of hand bones...	OMIM:109400
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
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Attached earlobe, Low-set, posteriorly rotated ears, Anteverted nares, Dep...	ORPHA:1327
49,Xxxxy Syndrome	Delayed eruption of teeth, Mandibular prognathia, Wide nose, Depressed nasal bridge, Abnormal den...	ORPHA:96264
Coffin-Siris Syndrome 3	Sparse scalp hair, Wide nose, Thick eyebrow, Anteverted nares, Depressed nasal bridge, Hypertrich...	OMIM:614608
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Renal hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy, Brachydactyly	OMIM:600151
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli...	OMIM:614091
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Broad nasal tip, Dent...	OMIM:619719
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Macular dystrophy, Micropenis, Rod-cone dystrophy, Brachydactyly	OMIM:615983
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, S...	ORPHA:93323
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect	OMIM:608681
Gillessen-Kaesbach-Nishimura Syndrome	Epicanthus, Ulnar deviation of the hand, Telecanthus, Short neck, Wide anterior fontanel, Metaphy...	OMIM:263210
Pierre Robin Sequence With Facial And Digital Anomalies	Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metacarp...	OMIM:311895
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Hypos...	ORPHA:2311
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Anteverted nares, Prominent nasal bridge, Underdevelo...	OMIM:618825
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Zimmermann-Laband Syndrome	Wide nose, Micrognathia, Supernumerary tooth, Bulbous nose, Sensorineural hearing impairment, Gin...	ORPHA:3473
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Sensorineural hearing impairment, Gingival fibromatosis, Gingival over...	ORPHA:2027
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Hearing impairment, Kypho...	ORPHA:90322
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur...	OMIM:265000
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure...	OMIM:607323
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,...	ORPHA:2437
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed anus, High palate,...	OMIM:211380
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Atkin-Flaitz Syndrome	Anteverted nares, Abnormality of the dentition, Broad nasal tip, Thick vermilion border, Everted ...	ORPHA:1193
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Retinal dystrophy, Cataract, Proximal placement of thumb, Sclero...	ORPHA:139471
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Single transverse palmar crease, Metatarsus adductus, Brus...	OMIM:214110
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Babinski sign, Pigmentary retinopathy, Hammertoe, Scoliosis, Spasticity	OMIM:619090
Mandibulofacial Dysostosis With Alopecia	Alopecia, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hyp...	OMIM:616367
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Hydronephrosis	OMIM:618240
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Robinow Syndrome, Autosomal Recessive 1	Short neck, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Micropenis, Dupl...	OMIM:268310
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Wide nasal bridge, Downturned...	OMIM:618729
Posterior Column Ataxia With Retinitis Pigmentosa	Recurrent urinary tract infections, Cataract, Ataxia, Urinary incontinence, Bone spicule pigmenta...	OMIM:609033
Anencephaly 2	Median cleft lip, Anophthalmia, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median c...	OMIM:619452
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Camptodactyly of finger, Abnormality of the dentition, Micrognathia, Hyperlordo...	ORPHA:77258
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Coloboma, Peters anomaly, Microphthalmia, Clinodactyly, Ocular anterior segment dysge...	OMIM:610023
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, Beta 2-microg...	OMIM:611555
Trichorhinophalangeal Syndrome Type 2	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Joint dislocation, Sparse scalp hair...	ORPHA:502
48,Xxxy Syndrome	Delayed eruption of teeth, Mandibular prognathia, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96263
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Renal agenesis, Bifid distal phalanx of the thumb, Coloboma, Absent distal ...	OMIM:120400
Bardet-Biedl Syndrome 14	Renal insufficiency, Rod-cone dystrophy, Polydactyly	OMIM:615991
Temple Syndrome	Wide nose, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Hydr...	OMIM:616222
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Anteverted nares, Kyphoscoliosis, Bulbous nose, Senso...	OMIM:616354
Trisomy 17P	Hypoplasia of penis, Urethral valve, Cataract, Prominent metopic ridge, Tapered finger, Short nec...	ORPHA:261290
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy...	OMIM:613091
Trisomy 4P	Smooth philtrum, Low-set, posteriorly rotated ears, Thick eyebrow, Depressed nasal bridge, Campto...	ORPHA:1738
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle...	OMIM:619797
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Momo Syndrome	Delayed eruption of teeth, Underfolded helix, Thick lower lip vermilion, Dental malocclusion, Wid...	OMIM:157980
Temtamy Preaxial Brachydactyly Syndrome	Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Abnormality of the ...	ORPHA:363417
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Bull's eye maculopathy, Short neck, Synophrys, Hemiverte...	OMIM:213980
Aarskog-Scott Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Anteverted nares, Genu recurvatum, ...	ORPHA:915
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Anteverted nares, Highly arched eyebrow, Persistence of primary teeth, Micrognat...	OMIM:618342
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Depressed nasal bridge, Micro...	ORPHA:404440
Holoprosencephaly 9	Anophthalmia, Hypoplasia of the maxilla, Single naris, Short philtrum, Holoprosencephaly, Depress...	OMIM:610829
Tooth Agenesis, Selective, 3	Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal hair morphology, Oligodontia,...	OMIM:604625
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:261800
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Missing ribs, Optic disc coloboma, Small...	ORPHA:50
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Sensorineural hearing impairment, G...	ORPHA:3019
Cerebrooculonasal Syndrome	Anophthalmia, Downturned corners of mouth, High palate, Conductive hearing impairment, Encephaloc...	OMIM:605627
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Sparse scalp hair, Non-midline cleft lip, Meningocele, Depressed nasal ridge, Absent nasal septal...	ORPHA:2003
Acrorenal-Mandibular Syndrome	Hemivertebrae, Aplasia of the bladder, Narrow chest, Hypoplasia of the ulna, Split hand, Split fo...	OMIM:200980
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Polydactyly, Attenuation of retinal ...	OMIM:615990
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Depressed nasal bridge, Submucous cleft hard palate, Periarticular soft-tiss...	OMIM:601492
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Prominent nasal bridge, Sensorineural hearing impairment, Platyspondyl...	ORPHA:71267
Burn-Mckeown Syndrome	Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Underdeveloped n...	OMIM:608572
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Chronic otitis...	ORPHA:1452
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Highly arched eyebrow, Scoliosis, Tooth malposition, Abnormal palate mo...	ORPHA:2712
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Tarsal synostosis, Highly arched eyebrow, Diastema, Deep philtrum, Talon cusp,...	OMIM:605282
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Ankle clonus, Bifid uvula, Cleft palate	ORPHA:506353
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Bifid uvula, Hearing impairment	OMIM:256200
Nanophthalmos 4	Microphthalmia	OMIM:615972
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Neurogenic bladder, Block vertebrae, Abnormal odontoid process morphology, Shor...	OMIM:613686
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	11 pairs of ribs, Rhizomelia, Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia...	OMIM:617661
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Proximal 16P11.2 Microdeletion Syndrome	Speech apraxia, Multicystic kidney dysplasia, Craniosynostosis, Rib fusion, Choreoathetosis, Hand...	ORPHA:261197
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Mesomelia-Synostoses Syndrome	Abnormality of the knee, Abnormal eyebrow morphology, Micrognathia, Aplasia/Hypoplasia of the uvu...	ORPHA:2496
Smith-Magenis Syndrome	Mandibular prognathia, Everted upper lip vermilion, Abnormality of the dentition, Velopharyngeal ...	OMIM:182290
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Rod...	OMIM:615993
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Diastema, Agenesis of molar, Supernumerary tooth, Kyphosis, Anosmia, Scoliosis, Microdontia, Bico...	OMIM:619718
Sweeney-Cox Syndrome	Uplifted earlobe, Micrognathia, Low anterior hairline, High palate, Short philtrum, Median cleft ...	OMIM:617746
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Becker Nevus Syndrome	Hypermelanotic macule, Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fus...	ORPHA:64755
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Sparse scalp hair, Wide nose, Thick eyebrow, Anteverted nares, Depress...	OMIM:614607
Pallister-Hall Syndrome	Ectopic kidney, Renal cyst, Holoprosencephaly, Neonatal death, Micropenis, Distal shortening of l...	OMIM:146510
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Posteriorly rotated ears, Micrognathia, Hyperlordosis, High, narrow pa...	ORPHA:2780
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Conductive hearing impairment, Bifid uvula	ORPHA:2669
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Oculodentodigital Dysplasia	Mandibular prognathia, Brittle hair, Micrognathia, Abnormality of the ear, Abnormal form of the v...	ORPHA:2710
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Wormian bones, Dental crowding, Abnormally large globe, Cario...	OMIM:269300
Intellectual Developmental Disorder, Autosomal Recessive 44	Depressed nasal bridge, Anteverted nares, Thin vermilion border, Long philtrum, Bifid uvula	OMIM:615942
Orofaciodigital Syndrome Type 2	Micrognathia, Protruding ear, High palate, Conductive hearing impairment, Hamartoma of tongue, Ta...	ORPHA:2751
Bardet-Biedl Syndrome 11	Polydactyly, Abnormality of the kidney	OMIM:615988
Momo Syndrome	Delayed eruption of teeth, Underfolded helix, Thick lower lip vermilion, Dental malocclusion, Bil...	ORPHA:2563
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Prominent nasal bridge, Micrognathia, Hypoplasia of the...	OMIM:216550
Verheij Syndrome	Branchial cyst, Renal agenesis, Optic nerve hypoplasia, Hip dislocation, Renal hypoplasia, Renal ...	OMIM:615583
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Depressed nasal bridge, Camptodactyly of finger, Kyphoscoliosis, Denta...	OMIM:612350
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Mandibular prognathia, Beaking of vertebral bodies, Depressed nasal br...	ORPHA:137834
Kbg Syndrome	Single transverse palmar crease, Short neck, Epispadias, Synophrys, Thoracic kyphosis, Short palm...	OMIM:148050
Catel-Manzke Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Highly arched eyebrow, Micrognathia, ...	ORPHA:1388
Trichorhinophalangeal Syndrome, Type Iii	Thin upper lip vermilion, Dental crowding, Underdeveloped nasal alae, Supernumerary tooth, Protru...	OMIM:190351
Distal Duplication 6P	Cataract, Renal hypoplasia, Long thorax, Abnormality of the urinary system, Intrauterine growth r...	ORPHA:1745
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Depressed nasal bridge, Micrognathia, Progressive hearing impairment, ...	OMIM:613849
Papillorenal Syndrome	Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc...	OMIM:120330
Keratoconus Posticus Circumscriptus	Keratoconus, Limited elbow extension and supination, Recurrent urinary tract infections, Short ne...	OMIM:244600
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Diastema, Macrotia, Mulberry molar, Supernumerary maxilla...	OMIM:302350
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Knee flexion contracture, Unilateral wrist flexion contracture, Absent uvula, Micrognathia	OMIM:616531
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Pyloric stenosis, Cleft palate...	ORPHA:96184
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/aplasia, Abnorma...	ORPHA:93929
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microcornea, Vertebral segmentation defect, Triphalangeal thumb, Chorioret...	ORPHA:959
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp...	ORPHA:2260
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Thoracic scoliosis, Cataract, Macular atrophy, Optic atrophy, Microcornea, Tal...	OMIM:616171
Anonychia With Flexural Pigmentation	Carious teeth, Alopecia of scalp, Abnormal hair morphology, Convex nasal ridge	ORPHA:69125
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
8Q22.1 Microdeletion Syndrome	Underfolded helix, Abnormal pinna morphology, Craniosynostosis, Abnormality of the dentition, Hyp...	ORPHA:178303
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Prominent nose, Agenesis of mandibular central incisor, Micrognathia, Hip subl...	OMIM:268305
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Sensorineu...	ORPHA:3214
2Q24 Microdeletion Syndrome	Toe syndactyly, Cataract, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ...	ORPHA:1617
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Nanophthalmos	Microphthalmia	ORPHA:35612
Peroxisome Biogenesis Disorder 3A (Zellweger)	Epiphyseal stippling, Wide anterior fontanel, Polycystic kidney dysplasia	OMIM:614859
Craniolenticulosutural Dysplasia	Brittle hair, Coarse hair, High palate, Sparse hair, Bifid uvula, Anteverted nares, Wide anterior...	OMIM:607812
Orofaciodigital Syndrome Iii	Kyphosis, Supernumerary tooth, Bulbous nose, Tongue nodules, Low-set ears, Microdontia, Bifid ton...	OMIM:258850
Frontometaphyseal Dysplasia 1	Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist...	OMIM:305620
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Multiple pterygia, Abnormal eyelid morphology, Symphalangism affecting the p...	ORPHA:2990
Rhyns Syndrome	Osteopenia, Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Delay...	ORPHA:140976
Satb2-Associated Syndrome Due To A Pathogenic Variant	Thin upper lip vermilion, Abnormality of the dentition, Celiac disease, Micrognathia, Cleft palat...	ORPHA:576283
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous synda...	OMIM:236500
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Sclerocornea, Abnormal form of the vertebral bodies, Megalocornea, Abnor...	ORPHA:280
Epidermal Nevus Syndrome	Osteopenia, Thoracolumbar scoliosis, Progressive spastic paraparesis, Babinski sign, Weakness of ...	ORPHA:35125
Distal Triplication 15Q	Telecanthus, Arachnodactyly, Corneal dystrophy, Craniosynostosis, Abnormality of the kidney, Kyph...	ORPHA:314588
Isolated Klippel-Feil Syndrome	Short neck, Renal hypoplasia/aplasia, Hemiplegia/hemiparesis, Abnormal sacrum morphology, Abnorma...	ORPHA:2345
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Cataract, Camptodactyly of finger, Micromelia, Joint sti...	ORPHA:2635
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Synophrys, Renal cyst, Iris coloboma, Dislocated radial head, Joint laxit...	OMIM:102500
Biemond Syndrome Type 2	Microphthalmia, Hydrocephalus, Preaxial polydactyly, Hypospadias	ORPHA:141333
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S...	ORPHA:85167
Tonne-Kalscheuer Syndrome	Prominent nasal bridge, Prominent nose, Micrognathia, Velopharyngeal insufficiency, Wide nasal br...	OMIM:300978
Prune Belly Syndrome	Congenital hip dislocation, Hydroureter, Pectus excavatum, Pectus carinatum, Congenital posterior...	OMIM:100100
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Hydroureter, Cataract, Abnormal pelvic girdle bone ...	ORPHA:1458
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hip osteoarthritis, Hypodontia	ORPHA:63442
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Joint stiffness, Kyphosis, Co...	ORPHA:816
Acrootoocular Syndrome	Delayed eruption of teeth, Kyphoscoliosis, Grayish enamel, Micrognathia, High, narrow palate, Sup...	ORPHA:2980
Trisomy X	Multicystic kidney dysplasia, Epicanthus, Renal hypoplasia/aplasia, Pectus excavatum, Tremor, Ups...	ORPHA:3375
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Scoliosis	OMIM:213000
Temple-Baraitser Syndrome	Tented upper lip vermilion, Low anterior hairline, High palate, Thick nasal alae, Anteverted nare...	ORPHA:420561
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, 2-3 toe syndactyly, Renal hypoplasia, Small thenar eminence, Umbilical...	OMIM:618914
Auriculocondylar Syndrome 2A	Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Mic...	OMIM:614669
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Thin upper lip vermilion, Lumbar hypertrichosis, Tented upper lip vermilio...	OMIM:618622
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Anteverted nares, Posteriorly rotated ears, Wide mouth, Delayed eruption...	OMIM:618506
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Renal agenesis, Ectopic kidney, Pectus excavatu...	OMIM:212780
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Hematuria, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:120433
Split-Hand/Foot Malformation 3	Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat...	OMIM:246560
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Prominent nasal bridge, Hypoplasia of the maxilla, Protruding ear, Patch...	ORPHA:85279
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:172880
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Renal...	OMIM:611561
Cranioectodermal Dysplasia 4	Anteverted nares, Sagittal craniosynostosis, Protruding ear, Thin vermilion border, Taurodontia, ...	OMIM:614378
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Velopharyngeal insufficiency	OMIM:617732
Taurodontism	Taurodontia	OMIM:272700
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Clinodactyly ...	OMIM:272460
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Prominent nasal bridge, Prominent nose, Carious teeth, Abnormality of the dentition, Hearing abno...	ORPHA:3270
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Renal hypoplasia, Pectus c...	ORPHA:171839
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me...	OMIM:617926
Auriculocondylar Syndrome 3	Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ...	OMIM:615706
Parc Syndrome	Microretrognathia, Absent eyebrow, Alopecia, Absent eyelashes, Cleft palate	OMIM:600331
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Rod-cone dystrophy, Retinal degen...	OMIM:615982
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Cataract, Sandal gap, Proteinuria, Abnormality of retinal pi...	ORPHA:2715
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Abnormal eyebrow morphology, Depressed nasal ridge, Hypodontia, Genera...	ORPHA:1816
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of...	ORPHA:1507
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Abnormal den...	ORPHA:1133
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Platys...	ORPHA:90653
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ...	ORPHA:1473
7Q31 Microdeletion Syndrome	Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Hypoplasia of the cochlea, Wide mout...	ORPHA:251061
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Pectus carinatum, Gait ataxia, ...	OMIM:617018
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Nance-Horan Syndrome	Mandibular prognathia, Prominent nasal bridge, Prominent nose, Abnormality of the dentition, Supe...	ORPHA:627
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Mandibular prognathia, Prominent metopic ridge, Kyphosis, Synophrys, Cleft palate, Protruding ear...	ORPHA:85317
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Abnormal dental e...	ORPHA:3220
Coffin-Siris Syndrome 11	Prominent metopic ridge, Depressed nasal bridge, Cleft soft palate, Uplifted earlobe, Esophageal ...	OMIM:618779
Lujan-Fryns Syndrome	Dental crowding, Prominent nasal bridge, Camptodactyly of finger, Abnormality of the dentition, M...	ORPHA:776
Holoprosencephaly 7	Alobar holoprosencephaly, Synophrys, Hypoplastic nasal septum, Holoprosencephaly, Median cleft pa...	OMIM:610828
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Toe syndactyly, Hypospadias, Highly arched eyebrow, Short thumb, Hyp...	ORPHA:2319
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Hypertrichosis, Oligodontia, Platyspondyly, Wid...	OMIM:601216
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Genu recurvatum, Uplifted earlobe, Kyphosis, Narrow palate, Short upper li...	ORPHA:364028
Joubert Syndrome 15	Micropenis, Preaxial polydactyly, Exencephaly, Nephronophthisis	OMIM:614464
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Mixed hearing impairment, Congenital hip dislocation, Intestin...	OMIM:113650
Trichorhinophalangeal Syndrome, Type I	Micrognathia, Deep philtrum, Osteoarthritis, Protruding ear, Sparse hair, Microdontia, Hyperlordo...	OMIM:190350
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ...	ORPHA:2521
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Trisomy 1Q	Microretrognathia, Wide nose, Anophthalmia, Depressed nasal bridge, Camptodactyly of finger, Hydr...	ORPHA:261344
Aicardi Syndrome	Retinal detachment, Cataract, Proximal placement of thumb, Missing ribs, Spina bifida, Chorioreti...	OMIM:304050
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Joubert Syndrome 16	Encephalocele, Retinal dystrophy, Renal cyst, Coloboma, Polydactyly, Nephronophthisis	OMIM:614465
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Ulnar deviation of the wrist, Camp...	ORPHA:1529
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Conductive hearing imp...	OMIM:235510
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Beaulieu-Boycott-Innes Syndrome	Micrognathia, Carious teeth, Long nose, Velopharyngeal insufficiency, Dental malocclusion, High a...	OMIM:613680
Microcephalic Primordial Dwarfism, Montreal Type	Low-set, posteriorly rotated ears, Abnormal hair quantity, Micrognathia, Open bite, Carious teeth...	ORPHA:2617
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um...	OMIM:615297
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Brittle hair, Prominent nasal bridge, Carious teeth, Hypopl...	ORPHA:50814
Myopathy, Centronuclear, 5	Hip contracture, Micrognathia, High palate, Narrow mouth, Retrognathia, Bifid uvula	OMIM:615959
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Kleefstra Syndrome 2	Kyphosis, Everted lower lip vermilion, Scoliosis, Bifid uvula, Thick eyebrow	OMIM:617768
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Prominent nasal bridge, Kyphoscoliosis, Prominent nose, Carious teeth,...	OMIM:214150
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Abnormal rib morphology, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Multiple small vertebral fractures, Osteoporosis of vertebrae, Platysp...	OMIM:156510
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf...	OMIM:620107
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Absent tragus, Overfolded helix...	ORPHA:79113
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor	OMIM:616390
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, ...	OMIM:263520
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Stickler Syndrome, Type I	Arthropathy, Anteverted nares, Depressed nasal bridge, Micrognathia, Kyphosis, Sensorineural hear...	OMIM:108300
Kbg Syndrome	Vertebral fusion, Telecanthus, Persistent open anterior fontanelle, Single transverse palmar crea...	ORPHA:2332
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Scoliosis, Bifi...	OMIM:300958
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Camptodactyly of fin...	ORPHA:1703
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Joubert Syndrome 7	Ataxia, Retinal dystrophy, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kid...	OMIM:611560
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Multiple joint contractures, Hip dislocation, Poor gross motor co...	ORPHA:370968
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, High anterior hairline, Sparse scalp hair, Low-set ears	OMIM:620062
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Re...	OMIM:603194
Cleft Velum	Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Recurrent otitis medi...	ORPHA:99772
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, Pectus carinatum, Hypoplastic...	ORPHA:93315
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Kyphosis, High palate, ...	OMIM:300676
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Alopecia, Prominent nose, Cario...	OMIM:203550
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Hip contracture, Hearing impairment, Micrognathia, Cari...	OMIM:618363
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Micropenis, Dysplastic sacrum, Hu...	OMIM:134780
Mullegama-Klein-Martinez Syndrome	Prominent nose, Micrognathia, Low anterior hairline, Short philtrum, Bifid uvula, Depressed nasal...	OMIM:301022
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Catara...	OMIM:615986
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis	OMIM:619362
Cri-Du-Chat Syndrome	Microretrognathia, Abnormal pinna morphology, Thick lower lip vermilion, Wide nasal bridge, Orofa...	OMIM:123450
Gorlin Syndrome	Vertebral fusion, Epicanthus, Telecanthus, Arachnodactyly, Cataract, Palmar pits, Hemivertebrae, ...	ORPHA:377
Acrocraniofacial Dysostosis	Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Prominent nasal bridge, Mic...	ORPHA:949
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica...	ORPHA:750
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Thick hair, Promi...	ORPHA:2107
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Depressed nasal ridge, Everted lower lip ...	ORPHA:181
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Abnormal renal morph...	OMIM:609053
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor...	ORPHA:2790
Marshall Syndrome	Anteverted nares, Depressed nasal bridge, Malar flattening, Micrognathia, Absent frontal sinuses,...	OMIM:154780
Ring Chromosome 14 Syndrome	Epicanthus, Short neck, Almond-shaped palpebral fissure, Pigmentary retinopathy, Blepharophimosis...	OMIM:616606
Microphthalmia, Syndromic 5	Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Microcornea, Coloboma, Microph...	OMIM:610125
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Spastic paraplegia, Carnos...	OMIM:236130
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Optic disc coloboma, Optic nerve dysplasia, Re...	ORPHA:1475
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Aase-Smith Syndrome	Abnormal pinna morphology, Camptodactyly of finger, Trismus, Cleft palate, Scoliosis	ORPHA:916
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Single transverse palmar crease, Renal cyst, Death in infanc...	OMIM:614866
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Thick eyebrow, Hypoplasia of the maxilla, Bulbous nose, Synophrys, Prot...	OMIM:618737
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Narrow palate, Multiple suture cranios...	ORPHA:207
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, Rena...	OMIM:616300
Uvula, Bifid	Bifid uvula	OMIM:192100
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Microphthalmia, I...	ORPHA:77298
Frontorhiny	Low-set, posteriorly rotated ears, Encephalocele, Lumbar hyperlordosis, Camptodactyly of finger, ...	ORPHA:391474
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat...	OMIM:209885
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs...	OMIM:271520
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar...	ORPHA:2412
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th...	ORPHA:3145
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hypospadias, Short neck, Hyperlordosis, Kyphosis, Pectus excavatum,...	ORPHA:2522
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Sparse hair, Spina bifi...	OMIM:234100
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Prematur...	OMIM:268400
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus...	OMIM:178110
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal antihelix morphology, Abnormal oral frenulu...	ORPHA:952
Nemaline Myopathy 9	Scoliosis, High palate, Cleft palate, Micrognathia	OMIM:615731
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Intrauterine growth retardation, Nephroptosis	OMIM:617564
Cerebrooculofacioskeletal Syndrome 3	Low-set ears, Microphthalmia, Cleft palate, Micrognathia	OMIM:616570
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Hearing impairment, Abnormality of the dentition, Carious teeth, Long nose, Thin lower lip vermil...	ORPHA:363444
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Osteomyelitis, Ataxia, Cataract, Truncal titubation, Kyp...	ORPHA:88628
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Carious teeth, Yellow nails, Conical incisor, Nail dystrophy, Enamel hypoplasia, Convex...	OMIM:614564
Oliver-Mcfarlane Syndrome	Hypoplasia of penis, Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes...	OMIM:275400
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Lessel-Kubisch Syndrome	Premature graying of hair, Renal insufficiency, Renal hypoplasia	OMIM:618681
Laron Syndrome	Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Micro...	ORPHA:633
Neuhauser Syndrome	Depressed nasal bridge, Genu recurvatum, Micrognathia, Cupped ear, Low anterior hairline, Wide na...	OMIM:249310
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Low anterior hairline, Abnormal form of the vertebral bodies, Conducti...	ORPHA:794
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria, Optic atrophy, Coloboma	OMIM:274270
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Pierre-Robin sequence...	OMIM:184840
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Narrow palm, Spasti...	ORPHA:1445
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Urinary incontinence, Preaxia...	OMIM:617927
Pontine Tegmental Cap Dysplasia	Ataxia, Head titubation, Hemivertebrae, Rib fusion, Dysmetria, Ankle clonus, Scoliosis, Oculomoto...	OMIM:614688
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, High palate, Conduc...	ORPHA:861
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,...	OMIM:615989
Hyperreflexia	Ankle clonus, Abnormality of retinal pigmentation	OMIM:145290
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Ataxia, Delayed skeletal maturation, Pigmentary retinopathy, Long eyelashes, Micropenis, Retinal ...	ORPHA:3363
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Frontal balding, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Shor...	ORPHA:93945
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Broad nasal tip, Underdev...	ORPHA:438216
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Bifid uvula, Low-set ears...	ORPHA:96170
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts	ORPHA:3033
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Abnorm...	ORPHA:2911
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Wormian bones, Congenital hip dislocation	OMIM:614450
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Missing ribs, ...	OMIM:206900
Nephronophthisis	Abnormality of retinal pigmentation, Renal insufficiency	ORPHA:655
Lowry-Wood Syndrome	Epiphyseal dysplasia, Brachydactyly, Abnormality of retinal pigmentation, Joint stiffness, Elbow ...	ORPHA:1824
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Submucous cleft hard palate, Single naris, Anosmia, Cleft palate, Absent nares, Hyp...	ORPHA:2250
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Ataxia	ORPHA:1178
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Short metatarsal, Microcornea, Short palm, Short phalanx of finger, Broad metaca...	OMIM:151200
Robin Sequence-Oligodactyly Syndrome	Micrognathia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Cleft palate, ...	ORPHA:3104
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Mandibular prognathia, Wide nose, Stapes ankylosis, Dental crowding, D...	OMIM:614188
Mcdonough Syndrome	Mandibular prognathia, Low-set, posteriorly rotated ears, Prominent nose, Open bite, Underdevelop...	ORPHA:2471
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx...	ORPHA:2839
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular d...	OMIM:164500
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Abnormality of the urinary system, Postaxial polydactyly	OMIM:213010
Oculoauriculofrontonasal Syndrome	Encephalocele, Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Cleft lip, Micrognathia, Cl...	ORPHA:398156
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Cataract, Rhizomelia, Proximal placement ...	ORPHA:93267
Congenital Disorder Of Glycosylation, Type Il	Short neck, Kyphosis, Delayed skeletal maturation, Hip dislocation, Polycystic kidney dysplasia	OMIM:608776
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia...	ORPHA:899
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, Cataract, Sclerocornea, Hypospadias, 2-3 toe syndactyly, Microcornea, C...	OMIM:615877
Treacher Collins Syndrome 4	Micrognathia, Cleft palate, Preauricular hair displacement, Choanal stenosis, Conductive hearing ...	OMIM:618939
Distal Deletion 10Q	Prominent nose, Micrognathia, Protruding ear, High palate, Spina bifida occulta, Prominent metopi...	ORPHA:96148
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Large earlobe, Short columella, ...	OMIM:155050
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Synophrys, Hydrocephalus, Wide nasal bridge, Protruding ear, Broad eye...	OMIM:618302
Jawad Syndrome	Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd...	OMIM:251255
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Lower limb spasticity, Generalized dystonia, Ataxia, Retinal pigment epithelia...	OMIM:619389
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Mesomelic Limb Shortening And Bowing	Retrognathia, Camptodactyly of finger, Cleft palate, Micrognathia	OMIM:249710
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Ptosis, Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies,...	ORPHA:2064
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Coloboma, Abnormal optic disc morphology, Thoracic kyphosis, Short palm, Clin...	ORPHA:508498
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Large for gestational age, Pectus excavat...	OMIM:615398
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Synophrys, Wide nasal bridge, Downturned corners of mouth, Wide mouth, ...	OMIM:618067
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Optic disc coloboma, Hypoplas...	OMIM:169550
Osteoglosphonic Dysplasia	Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, Abnormal form of the vertebral...	ORPHA:2645
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Fraser Syndrome 1	Subglottic stenosis, Laryngeal stenosis, Cleft ala nasi, Dental crowding, Anophthalmia, Choanal s...	OMIM:219000
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma...	ORPHA:93351
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Encephalocele, Renal agenesis, Postaxial hand polydactyly, 2-3 toe syndactyly, ...	OMIM:264480
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula,...	ORPHA:2256
Three M Syndrome 2	Delayed eruption of teeth, Lumbar hyperlordosis, Anteverted nares, Depressed nasal bridge, Hyperl...	OMIM:612921
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ...	OMIM:619752
Holoprosencephaly	Anophthalmia, Deep philtrum, Synophrys, Depressed nasal ridge, Abnormal form of the vertebral bod...	ORPHA:2162
Mmep Syndrome	Microphthalmia, Split foot, Triphalangeal thumb	ORPHA:3434
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Underdeveloped superior crus of antihelix, Convex nasal ridge, Highly arched eyebrow, Micrognathi...	ORPHA:293967
Bent Bone Dysplasia Syndrome 1	Natal tooth, Micrognathia, Abnormally large globe, Gingival overgrowth, Low-set ears, Malar flatt...	OMIM:614592
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Anteriorly placed anus, Short philtrum, High palate, Ch...	ORPHA:798
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Ataxia	ORPHA:2246
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Cataract, Hyperlordosis, Kyphosis, Short toe, Delayed skelet...	ORPHA:3085
Monosomy 18P	Alopecia, Kyphoscoliosis, Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, Protrudin...	ORPHA:1598
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Wide nose, Craniosynostosis, Persistence of primary teeth, High palate, Scoliosis	OMIM:147060
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Short neck, Oligosacchariduria, Thoracic kyphosis, Narrow chest, Abnormal bone ossification, Abno...	ORPHA:163649
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Low-set, posteriorly rotated ears, Prominent nasal bridge, Tarsal synostosis, ...	ORPHA:1307
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Sparse scalp hair, Anteverted nares, Carious teeth, Deep philt...	ORPHA:2701
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Congenital ptosis, Posterior fusion of lumbosacral vertebrae	OMIM:192800
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Cataract, Limited mobility of proximal interphalangeal joint, Hy...	OMIM:222300
Cerebrofaciothoracic Dysplasia	Epicanthus, Short neck, Synophrys, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narr...	ORPHA:1394
Char Syndrome	Depressed nasal bridge, Supernumerary nipple, Persistence of primary teeth, No permanent dentitio...	ORPHA:46627
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Flexion contracture, Optic atrophy, Babinski sign, Distal sensory impairment, Hammertoe, ...	OMIM:609260
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Micromelia, Renal hypoplasia/aplasia, Capita...	ORPHA:289
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f...	ORPHA:175
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation, Ataxia, Progressive intervertebral space narrowing, Hemipleg...	ORPHA:480
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Cerebellar-Facial-Dental Syndrome	Anteverted nares, Micrognathia, Sparse eyebrow, Dental malocclusion, Alveolar ridge overgrowth, W...	ORPHA:444072
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Abnormality of the knee, Depressed nasal bridge, Micrognathia, Wide anter...	ORPHA:3098
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Epicanthus, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absen...	OMIM:617641
Autosomal Recessive Spastic Paraplegia Type 15	Impaired vibratory sensation, Lower limb spasticity, Functional abnormality of the bladder, Babin...	ORPHA:100996
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Posteriorly rotated ears, Micrognathia, Crowded maxillary incisors, Narr...	ORPHA:2063
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Cerebellofaciodental Syndrome	Sparse eyebrow, Dental malocclusion, Genu valgum, Fine hair, Taurodontia, Scoliosis, Low-set ears...	OMIM:616202
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis...	OMIM:609218
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sparse eyebrow, Sensorineural h...	OMIM:606164
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Elbow dislocation, Cleft palate, Vert...	ORPHA:2631
Odontochondrodysplasia	Delayed eruption of teeth, Depressed nasal bridge, Platyspondyly, Scoliosis, Short nose, Retrogna...	ORPHA:166272
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Koolen-De Vries Syndrome	Vertebral fusion, Ureteral duplication, Epicanthus, Arachnodactyly, Hypospadias, Cataract, Blepha...	ORPHA:96169
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia	ORPHA:2016
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Sialidosis Type 2	Ataxia, Corneal opacity, Tremor, Kyphosis, Flexion contracture, Osteoporosis, Short thorax, Pectu...	ORPHA:87876
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Joint stiffness, Missing ribs, Latera...	ORPHA:1801
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Delayed eruption of pri...	ORPHA:90321
Acropectoral Syndrome	Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T...	OMIM:605967
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Sparse scalp hair, Depressed nasal bridge, Sparse eyelashes, Sagittal craniosynostos...	OMIM:616901
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Supernumerary tooth, Oligodontia, Sparse hair, Uncombable hair	ORPHA:1264
Cardiospondylocarpofacial Syndrome	High, narrow palate, Abnormal form of the vertebral bodies, Conductive hearing impairment, Failur...	ORPHA:3238
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia	OMIM:615234
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Posteriorly rotated ears, Cleft lip, Cleft palate, Downturned corners of mouth, Microtia, Everted...	OMIM:618089
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rhizomelia, Anterior rib cupping, Rod-cone dystrophy, Proximal femoral m...	OMIM:602271
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Sparse scalp hair, Anteverted nares, Depressed nasal bridge, Posterior...	OMIM:615866
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros...	OMIM:616331
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bifid uvula, Cleft palate	OMIM:258320
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe...	DECIPHER:81
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocu...	ORPHA:324416
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys...	OMIM:615761
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Hyperlordosis, Protruding ear, High palate, Narrow mouth, Retrognathia, Bifid uvula	ORPHA:169186
Laurence-Moon Syndrome	Ataxia, Abnormality of the hand, Spastic paraplegia, Chorioretinal atrophy, Pigmentary retinopath...	OMIM:245800
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Distal Deletion 17Q	Low-set, posteriorly rotated ears, Prominent metopic ridge, Abnormality of the philtrum, Aplasia/...	ORPHA:1597
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentatio...	OMIM:615994
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Pectus carinatum, Hypertonia, Progressive spasticity, Shor...	ORPHA:192
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2487
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation, Ataxia	ORPHA:2579
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Enlarged joints, Depressed nasal bridge, Anteverted nares, Posteri...	ORPHA:1427
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur...	ORPHA:3103
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Cleidocranial Dysplasia 2	Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel, Supernumera...	OMIM:620099
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia	OMIM:610951
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Renal hypoplasia, Patellar hypoplasia, Coloboma, Vesicoureteral reflux, ...	ORPHA:464288
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Preaxial polydactyly,...	OMIM:243605
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Prominent nose, Micrognathia, Hypo...	ORPHA:763
Marden-Walker Syndrome	Arachnodactyly, Hypospadias, Renal hypoplasia, Radioulnar synostosis, Abnormal sternum morphology...	OMIM:248700
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Abnormal form of the vertebral bodies,...	ORPHA:93262
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Depressed nasal bridge, Ovoid vertebral bodies, Broad nasal tip, Abnormal p...	ORPHA:1830
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl...	ORPHA:313892
Eec Syndrome	Slow-growing hair, Abnormal dental enamel morphology, Choanal atresia, Carious teeth, External ea...	ORPHA:1896
Fraser Syndrome	Subglottic stenosis, Laryngeal stenosis, Cleft ala nasi, Dental crowding, Anophthalmia, Orofacial...	ORPHA:2052
Distal Duplication 18Q	Low-set, posteriorly rotated ears, Abnormal dental morphology, Choanal atresia, Anteverted nares,...	ORPHA:1716
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Cornelia De Lange Syndrome 5	Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Broad nasal tip, Micrognathia, ...	OMIM:300882
Atelosteogenesis Type I	Joint dislocation, Telecanthus, Short femur, Rhizomelia, Abnormal ossification involving the femo...	ORPHA:1190
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Cenani-Lenz Syndrome	Micromelia, Abnormal form of the vertebral bodies, Foot oligodactyly, Synostosis of carpal bones,...	ORPHA:3258
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Tibial bowing, Hypoplasia of fi...	OMIM:269150
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux...	ORPHA:93284
Craniosynostosis 2	Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Metopic synostosi...	OMIM:604757
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Anteverted nares, Depressed nasal bridge, Choanal atresia, Prominent nasal bridge, P...	OMIM:123790
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Hyperlord...	ORPHA:3353
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Polyuria, Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Death in ado...	OMIM:560000
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Glutathione Synthetase Deficiency	Ataxia, Spastic tetraparesis, Pigmentary retinopathy, Increased level of L-pyroglutamic acid in u...	OMIM:266130
Atelosteogenesis, Type Iii	Cervical segmentation defect, Depressed nasal bridge, Cervical kyphosis, Micrognathia, Hypoplasia...	OMIM:108721
Pycnodysostosis	Persistent open anterior fontanelle, Delayed eruption of primary teeth, Persistence of primary te...	OMIM:265800
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Protruding tongue, Sensorineural hearing impairment, Hydrocephalus, Alveolar ri...	OMIM:612938
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping toe, Unilateral renal agenesis, Renal hypoplasia, Hip dysplasia, Prominent fingertip ...	OMIM:618494
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Short neck, Delayed epiphyseal ossification, Flexion...	OMIM:210710
Phelan-Mcdermid Syndrome	Sacral dimple, Thick eyebrow, Epicanthus, Palpebral edema, Abnormality of the kidney, Impaired pa...	OMIM:606232
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, C...	OMIM:608940
Auriculocondylar Syndrome 1	Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Cup...	OMIM:602483
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridg...	ORPHA:2180
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Heart Defects-Limb Shortening Syndrome	Death in infancy, Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis...	ORPHA:1354
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha...	OMIM:617914
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Ureteral duplication, Renal agenesis, Absent thumb, Absent radius, Ectopic k...	OMIM:602200
Schilbach-Rott Syndrome	Posteriorly rotated ears, Prominent nose, Long nose, Micrognathia, Submucous cleft hard palate, M...	OMIM:164220
Thrombocytopenia-Absent Radius Syndrome	Clinodactyly of the 5th finger, Axial malrotation of the kidney, Phocomelia, Genu varum, Finger s...	ORPHA:3320
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Lumbar hyperlordosis, Thoracolumbar scoliosis, Camptodactyly of finge...	OMIM:114300
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Low anterior hairline, Wide nasal bridge, High palate, Scoliosis, Shor...	OMIM:218000
Charge Syndrome	Anophthalmia, Aqueductal stenosis, Hemivertebrae, Hypoplasia of the semicircular canal, Holoprose...	ORPHA:138
Juvenile Paget Disease	Abnormal clavicle morphology, Bowing of the long bones, Abnormality of retinal pigmentation, Recu...	ORPHA:2801
Microphthalmia, Syndromic 2	Anophthalmia, Anteverted ears, Oligodontia, Fused teeth, Laterally curved eyebrow, Bifid uvula, P...	OMIM:300166
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Moebius Syndrome	Abnormal nasopharynx morphology, Depressed nasal bridge, Abnormal pinna morphology, Abnormality o...	OMIM:157900
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Choanal steno...	ORPHA:1790
Vacterl With Hydrocephalus	Microtia, third degree, Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Esophageal...	ORPHA:3412
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Ataxia, Tremor, Hemiparesis, Pigmentary retinopathy, Spasticity, Rod-cone dystrophy, In...	OMIM:614307
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Macrotia, Fine hair	OMIM:272300
Kabuki Syndrome 2	Micrognathia, Protruding ear, High palate, Highly arched eyebrow, Short columella, Low-set ears, ...	OMIM:300867
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Sensorineural hearing impairment,...	OMIM:215100
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Ectopic kidney, Sh...	ORPHA:233
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Abnormal nasopharynx morphology, Mixed hearing impairment, Wide nasal brid...	OMIM:218400
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Prominent nasal bridge, Choanal atresia, Lop ear, Thoracolumbar scolios...	OMIM:300472
Branchioskeletogenital Syndrome	Mandibular prognathia, Attached earlobe, Hypoplasia of the maxilla, Synophrys, Anteriorly placed ...	ORPHA:1299
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat...	OMIM:619148
Zechi-Ceide Syndrome	Mandibular prognathia, Wide nose, Thick hair, Cleft lip, Wide nasal bridge, Cleft palate, Abnorma...	ORPHA:217017
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Flexion contracture, Optic atrophy, Babinski sign, Pigmentary retinopathy, Myoc...	OMIM:252011
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Epicanthus, Abnormality of the upper urinary tract, Elbow dislocation, Kyphosis...	ORPHA:2916
Multiple Acyl-Coa Dehydrogenase Deficiency	Telecanthus, Glutaric aciduria, Wide anterior fontanel, Generalized aminoaciduria, Renal cortical...	OMIM:231680
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Bilateral conductiv...	OMIM:617802
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, High palate, Sparse hair, Thick upper li...	ORPHA:560
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Bifid uvula...	OMIM:616580
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s...	ORPHA:96
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis, Short neck, Abnormal rib morphology, Scolio...	OMIM:118100
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Abnormality of hair textu...	ORPHA:2752
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No...	ORPHA:199302
20P12.3 Microdeletion Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Microtia, Narrow mouth, Thi...	ORPHA:261295
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Broad nasal tip, Cleft lip, Synophrys, Cleft palate, Low posterior hairline, Thoracic kyphosis	OMIM:300263
X-Linked Intellectual Disability, Abidi Type	Prominent nasal bridge, Non-midline cleft lip, Cleft palate, Protruding ear, Scoliosis, Hearing i...	ORPHA:85273
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Dental crowding, Anteverted nares, Prominent nasal bridge, Abnormal pinna ...	OMIM:309583
Larsen-Like Syndrome	Joint dislocation, Kyphoscoliosis, Wide anterior fontanel, Dental malocclusion, Cleft palate, Abs...	OMIM:608545
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Bilateral conductive hearing impairment, Cl...	OMIM:216300
Nephronophthisis 15	Polydactyly, Retinal degeneration, Nephronophthisis	OMIM:614845
Nager Syndrome	Low-set, posteriorly rotated ears, Sparse lower eyelashes, Micrognathia, Abnormal nasal morpholog...	ORPHA:245
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Open bite, Kyphosis, De...	ORPHA:61
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Epiphyseal stippling, Renal cyst	OMIM:614870
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Downturned corners of mouth, Short philtrum, High palate, Sp...	OMIM:616364
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Microdon...	OMIM:305100
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cataract, Ectopic kidney, Neonatal death, Microphthalmia, Cystic renal dysplasia	OMIM:613730
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Joint stiffness, Ectopic kidney, Missi...	ORPHA:3027
Diaphanospondylodysostosis	Absent in utero ossification of vertebral bodies, Nephrogenic rest, Short neck, Nephroblastomatos...	OMIM:608022
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Telecanthus, Postaxial polydactyly, Retinal pigment ...	OMIM:617102
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Cleft upper li...	OMIM:147250
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ap...	ORPHA:2538
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Synophrys, White hair, Premature graying of ha...	ORPHA:894
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Micromelia, Proximal placement of thumb, Symphal...	ORPHA:628
2Q32Q33 Microdeletion Syndrome	Dental crowding, Anteverted nares, Prominent nasal bridge, Micrognathia, Cleft palate, Fine hair,...	ORPHA:251019
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Epicanthus, Craniosynostosis, Coxa valga, Delayed skeletal m...	ORPHA:2163
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Abnormality of the dentiti...	OMIM:618505
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Abnormal clavicle morphology, Hypoplasia of penis, Camptodacty...	ORPHA:3138
Trisomy 9P	Dental crowding, Abnormal nasal morphology, Kyphosis, Non-midline cleft lip, Impacted tooth, Down...	ORPHA:236
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Prominent nasal bridge,...	ORPHA:247262
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Conical tooth,...	OMIM:106260
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Cleft soft palate, Posteriorly rotated ears, Abnormality of the dentition, Broa...	OMIM:618529
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Craniosynostosis, Abnormality of the dentition, Abnormal hair morpholo...	ORPHA:2314
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Recon Progeroid Syndrome	Attached earlobe, Prominence of the premaxilla, Anteverted nares, Dental crowding, Narrow nasal r...	OMIM:620370
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ...	OMIM:312150
Joubert Syndrome 35	Multicystic kidney dysplasia, Telecanthus, Ataxia, Single transverse palmar crease, Highly arched...	OMIM:618161
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Glossoptosis, Long ...	ORPHA:166100
Dysostosis, Stanescu Type	Narrow nasal bridge, Persistent open anterior fontanelle, Abnormal dental enamel morphology, Abno...	ORPHA:1798
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib...	OMIM:128230
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Ureteral duplication, Renal insufficiency, Cataract, Tapered toe, Renal dysplasia, Long...	OMIM:608836
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the maxilla, High, na...	ORPHA:1101
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Communicating hydrocephalus, Septo-optic dysplasia, Uplifted earlobe, Micr...	OMIM:619841
20P13 Microdeletion Syndrome	Finger syndactyly, Failure to thrive in infancy, Wide anterior fontanel, Microcornea, Polydactyly...	ORPHA:313781
Joubert Syndrome 39	Pain insensitivity, Retinal dystrophy, Postaxial polydactyly, Joint contracture of the 5th finger...	OMIM:619562
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Neonatal death, Short toe, Shor...	OMIM:269860
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairline, Short philtr...	ORPHA:193
Seckel Syndrome 5	Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Cleft palate, Oligodontia, High p...	OMIM:613823
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Alg3-Cdg	Abnormal pinna morphology, Abnormality of the nose, Macroglossia, Neural tube defect, High palate...	ORPHA:79321
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Braddock-Carey Syndrome 2	Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c...	OMIM:619981
Temtamy Syndrome	Short toe, Genu varum, Chorioretinal coloboma, Clinodactyly of the 5th finger, Microphthalmia, Ir...	ORPHA:1777
Facial Clefting, Oblique, 1	Microphthalmia, Deep palmar crease, Coloboma	OMIM:600251
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Hypodontia, Nail ...	OMIM:226650
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart...	OMIM:177170
Van Maldergem Syndrome 2	Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Anterio...	OMIM:615546
Metaphyseal Chondrodysplasia, Spahr Type	Hyperlordosis, Carious teeth, Abnormality of the dentition, Scoliosis, Genu varum	ORPHA:2501
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Joint contracture of th...	OMIM:601110
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Esophageal stricture, Sensorineural hearing impairment, Hypodontia, Na...	OMIM:616029
Koolen-De Vries Syndrome	Vesicoureteral reflux, Prominent fingertip pads, Iris hypopigmentation, Vertebral fusion, Promine...	OMIM:610443
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Hearing impairment, Micrognathia, Macrotia, Synophrys, Wide nasal bridge, Narrow palate, Hypoplas...	OMIM:620250
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Pectus e...	OMIM:616362
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Broad eyebrow, Anteverted nares, Hypoplasia of the maxilla, Bulbous nose...	ORPHA:481152
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Protruding ear, ...	ORPHA:534
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Pai Syndrome	Encephalocele, Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft palate, Abnormal ...	ORPHA:1993
Nablus Mask-Like Facial Syndrome	Hypoplasia of the maxilla, Low anterior hairline, High palate, Sparse hair, Small earlobe, Anteve...	OMIM:608156
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi...	OMIM:601957
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Supernumerary nip...	ORPHA:1071
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Depressed nasal bridge, Highly arched eyebrow, Abnormality of the dentition, Low anterior hairlin...	OMIM:615802
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Enlarged joints, Kyphoscoliosis, Highly arched eyebrow, Sparse eyebrow...	ORPHA:263463
Dubowitz Syndrome	Delayed eruption of teeth, Sparse scalp hair, Prominent nasal bridge, Broad nasal tip, Carious te...	OMIM:223370
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, Sparse hair	ORPHA:2266
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Absent radius,...	OMIM:171480
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Sacral dimple, Tapered toe, Sparse eyelashes, Tapered finger, Absent eyelashes, S...	ORPHA:544488
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Prominent nose, Low anterior hairline, Downturned corners of mouth, Short ...	OMIM:601808
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Esophageal stenosis, Abnormality of the dentition, Carious...	ORPHA:1775
Congenital Varicella Syndrome	Microphthalmia, Cataract, Micromelia, Intrauterine growth retardation	ORPHA:291
Meckel Syndrome, Type 10	Sacral dimple, Ulnar deviation of the hand, Hypospadias, Epicanthus, Postaxial polydactyly, Posta...	OMIM:614175
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Conductive hearing impai...	OMIM:300373
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Hydroureter, Duplication of thumb phalanx, Abnormality of the upper urin...	ORPHA:2995
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Acrodysostosis	Delayed eruption of teeth, Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Open ...	ORPHA:950
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati...	ORPHA:171844
Flynn-Aird Syndrome	Alopecia, Kyphoscoliosis, Carious teeth, Progressive sensorineural hearing impairment, Alopecia o...	OMIM:136300
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Thin upper lip vermilion, Elbow hypertrichosis, Depressed nasal bridge, Prominent nose, Carious t...	OMIM:620191
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Fine hair, Aplasia/Hyp...	ORPHA:3236
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin...	OMIM:613702
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Micrognathia, Conical tooth, Anteverted ears, Aplasia of the inner ear, Widely spaced teeth, Micr...	OMIM:610706
Braddock-Carey Syndrome 1	Curly hair, Anteverted nares, Posteriorly rotated ears, Hyperlordosis, Pierre-Robin sequence, Wid...	OMIM:619980
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Preaxial polydactyly, Retinal c...	OMIM:616546
Familial Visceral Myopathy	Hydroureter, Arachnodactyly, Camptodactyly of finger, Megacystis, Narrow chest, Vesicoureteral re...	ORPHA:2604
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Choanal stenosis, ...	OMIM:620186
Otopalatodigital Syndrome, Type I	Selective tooth agenesis, Delayed closure of the anterior fontanelle, Absent frontal sinuses, Cap...	OMIM:311300
Isotretinoin Syndrome	Depressed nasal bridge, Micrognathia, Cleft palate, Microtia, Spina bifida occulta, Abnormality o...	ORPHA:2305
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, ...	OMIM:611134
Coffin-Siris Syndrome 6	Wormian bones, Depressed nasal bridge, Posteriorly rotated ears, Kyphoscoliosis, Broad nasal tip,...	OMIM:617808
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Noonan Syndrome 9	Hydroureter	OMIM:616559
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Non-...	ORPHA:1915
Multiple Acyl-Coa Dehydrogenase Deficiency	Scapular winging, Telecanthus, Hyperlordosis, Glutaric aciduria, Wide anterior fontanel, Lacticac...	ORPHA:26791
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Hydroureter, Unilateral renal agenesis, Pectus excavatum, Elbow flexion contract...	OMIM:619194
8P Inverted Duplication/Deletion Syndrome	Anteverted nares, Frontal balding, Micrognathia, High, narrow palate, Macrotia, Synophrys, Abnorm...	ORPHA:96092
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft palate, Concave nasal ri...	OMIM:617337
Epidermolysis Bullosa, Junctional 4, Intermediate	Dental enamel pits, Carious teeth, Scarring alopecia of scalp, Nail dystrophy, Dystrophic fingern...	OMIM:619787
Joubert Syndrome 18	Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Re...	OMIM:614815
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Choanal stenosis, Chronic otitis media, Bifid uvul...	OMIM:101200
Gapo Syndrome	Delayed eruption of teeth, Mandibular prognathia, Alopecia, Anteverted nares, Depressed nasal bri...	ORPHA:2067
Gapo Syndrome	Alopecia, Anteverted nares, Depressed nasal bridge, Delayed closure of the anterior fontanelle, M...	OMIM:230740
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Pectus excavatum, Intrauterine growth retardation, Down-sloping shoulders, Renal hypoplasia	OMIM:616817
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Optic nerve hypoplasia, Hearing impairment, Micrognathia, Broad nasal tip,...	OMIM:620157
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, H...	OMIM:119600
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Micrognathia, Synophrys, Protruding ear, Sparse hair, Dystrophic fingernails, Anodontia, Alopecia...	ORPHA:3253
Trichothiodystrophy 3, Photosensitive	Natal tooth, Brittle hair, Carious teeth, Pyloric stenosis, Low-set ears, Eclabion, Microphthalmi...	OMIM:616395
Van Maldergem Syndrome 1	Irregular dentition, Wide cranial sutures, Tented upper lip vermilion, Micrognathia, Hypoplasia o...	OMIM:601390
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Prominent nose, Underdeveloped nasal alae, Supernumerary tooth, Micrognathia, Sens...	ORPHA:90024
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Convex nasal ridge, Posteriorly rotated ears, M...	OMIM:241410
Naegeli-Franceschetti-Jadassohn Syndrome	Decreased number of sweat glands, Abnormal dental morphology, Interphalangeal joint contracture o...	ORPHA:69087
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Spinocerebellar Ataxia, Autosomal Recessive 31	Dystonia, Ataxia, Pectus excavatum, Tremor, Optic atrophy, Choreoathetosis, Lumbar kyphoscoliosis...	OMIM:619422
Weismann-Netter Syndrome	Kyphosis, Delayed eruption of permanent teeth, Scoliosis	OMIM:112350
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia	ORPHA:2169
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Prominent nasal bridge, Highly arched eyebrow, Carious teeth, Thick lower lip vermilion, Narrow p...	ORPHA:457365
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Toe syndactyly, Hydroureter, Single transverse palmar crease, Craniosy...	OMIM:300707
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos...	ORPHA:223
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ...	OMIM:253290
Aminopterin Syndrome Sine Aminopterin	Thoracic scoliosis, Posteriorly rotated ears, Highly arched eyebrow, Micrognathia, Cleft palate, ...	OMIM:600325
Orofaciodigital Syndrome I	Dry hair, Lobulated tongue, High palate, Sparse hair, Microretrognathia, Alopecia, Hamartoma of t...	OMIM:311200
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Obes...	ORPHA:65759
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplas...	ORPHA:110
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, O...	OMIM:619356
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Ataxia	OMIM:551500
Sotos Syndrome	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Broad ...	OMIM:117550
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Osteoporosis, Pigmentary retinopathy, Scoliosis	OMIM:618234
Even-Plus Syndrome	Epiphyseal dysplasia, Recurrent urinary tract infections, Renal hypoplasia, Vesicoureteral reflux...	OMIM:616854
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Death in infancy, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcan...	ORPHA:163966
Chand Syndrome	Curly hair, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnormal oral fren...	ORPHA:1401
Refsum Disease	Abnormality of retinal pigmentation, Short metacarpal, Renal insufficiency, Ataxia, Cataract, Hem...	ORPHA:773
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Nephropathy, Nephrolithiasis, Hematuria, C...	ORPHA:2196
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Renal hypoplasia, Pel...	OMIM:603467
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Lamb-Shaffer Syndrome	Epicanthus, Ataxia, Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Sc...	ORPHA:530983
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Arachnodac...	ORPHA:2461
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Epicanthus, Thoracolumbar scoliosis, Sagittal craniosynostosis, Pancreatic cysts, Wid...	OMIM:610199
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hyd...	OMIM:123500
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Abnormal localization of kidney, Uln...	ORPHA:921
Split-Foot Deformity With Mandibulofacial Dysostosis	Malar flattening, Abnormality of the ear, Cleft palate, Micrognathia	OMIM:183700
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Anal atresia	ORPHA:93950
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Cleft palate, High palate, Low-set ears, Scoliosis, Malar flattening, Open mouth	OMIM:620021
Meckel Syndrome 12	Anteverted nares, Micrognathia, Wide nasal bridge, Antecubital pterygium, Low-set ears, Bifid uvula	OMIM:616258
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Frontal encephalocele, Microphthalmia	ORPHA:1528
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Distal Deletion 10P	Low-set, posteriorly rotated ears, Micrognathia, Hearing abnormality, Non-midline cleft lip, Abno...	ORPHA:1580
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Persistence of primary teeth, Micrognathia, Hypoplasia...	OMIM:170390
3Mc Syndrome 2	Prominence of the premaxilla, Prominent nasal bridge, Limited elbow movement, Cleft upper lip, Cr...	OMIM:265050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Hyperlordosis, Flexion contracture, Hip dislocation, Pigmentary retinopathy, Scoliosis, Micropenis	OMIM:613156
1P36 Deletion Syndrome	11 pairs of ribs, Hypoplasia of penis, Cataract, Hypospadias, Camptodactyly of finger, Abnormalit...	ORPHA:1606
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Ketonuria, Single transverse palmar crease, Renal hypoplasia	OMIM:619053
6Q25 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Camptodactyly of finger, Micrognath...	ORPHA:251056
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Joint stiffness, Renal hypoplasia/aplasia, Vertebral segmentation defect, Hypertonia, Multiple re...	ORPHA:1166
Matthew-Wood Syndrome	Anophthalmia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Intraute...	ORPHA:2470
Zttk Syndrome	Broad eyebrow, Epicanthus, Polyuria, Craniosynostosis, Unilateral renal agenesis, Sparse eyebrow,...	OMIM:617140
Fetal Akinesia Deformation Sequence 2	Tented upper lip vermilion, Micrognathia, Wide nasal bridge, Cleft palate, High palate, Low-set ears	OMIM:618388
Crisponi/Cold-Induced Sweating Syndrome 1	Wide nose, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Carious teeth,...	OMIM:272430
Duplication Of The Pituitary Gland	Encephalocele, Thoracic scoliosis, Supernumerary tooth, Abnormality of the tongue, Cleft palate, ...	ORPHA:314621
Blepharo-Cheilo-Odontic Syndrome	Abnormal hair quantity, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Conductive ...	ORPHA:1997
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Short neck,...	ORPHA:263508
Senior-Loken Syndrome 9	Osteopenia, Hypoplasia of the femoral head, Retinal dystrophy, Stage 5 chronic kidney disease, Tu...	OMIM:616629
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Smooth philtrum, Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Abnormality o...	OMIM:300968
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,...	OMIM:218600
Renpenning Syndrome	Mandibular prognathia, Abnormal hairshaft morphology, Alopecia, Macrodontia, Prominent nose, High...	ORPHA:3242
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic...	ORPHA:1553
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Kyphosis, Pierre-Robin sequ...	OMIM:183900
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, ...	ORPHA:2484
Pfeiffer Syndrome	Mandibular prognathia, Depressed nasal bridge, Dental crowding, Choanal atresia, Hypoplasia of th...	OMIM:101600
Noonan Syndrome	Low-set, posteriorly rotated ears, Abnormal hair quantity, Micrognathia, Aplasia of the semicircu...	ORPHA:648
Branchiooculofacial Syndrome	Anophthalmia, Micrognathia, Premature graying of hair, Conductive hearing impairment, Sparse hair...	OMIM:113620
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit...	ORPHA:2753
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c...	OMIM:613731
Joubert Syndrome 28	Joint laxity, Optic disc pallor, Ataxia, Highly arched eyebrow, Pigmentary retinopathy, Oculomoto...	OMIM:617121
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Bilateral ptosis, Abnormal pyramidal sign, Pigmentary retinopathy, Scoliosis, Limb dysmetria	ORPHA:329336
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Thoracic scoliosis, Ataxia, Tremor, Small hand, Truncal ataxia, Dysmetria, Gait ataxia, Short foo...	OMIM:610185
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, Renal c...	OMIM:122470
Cardiospondylocarpofacial Syndrome	Joint laxity, Ptosis, Epicanthus, Telecanthus, Tarsal synostosis, Delayed skeletal maturation, Ri...	OMIM:157800
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Rapadilino Syndrome	Joint dislocation, Slender nose, Sparse scalp hair, Sparse eyelashes, Aplasia/Hypoplasia of the p...	OMIM:266280
Neu-Laxova Syndrome	Abnormality of the philtrum, Spina bifida, Micrognathia, Abnormal eyelash morphology, Trismus, Ma...	ORPHA:2671
Skraban-Deardorff Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's bow, Cleft palate, Widely ...	OMIM:617616
Arima Syndrome	Ptosis, Proteinuria, Polyuria, Ataxia, Retinal dystrophy, Postaxial hand polydactyly, Optic atrop...	OMIM:243910
Hartsfield Syndrome	Encephalocele, Craniosynostosis, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the r...	ORPHA:2117
Autosomal Dominant Robinow Syndrome	Micrognathia, High, narrow palate, Abnormality of the gingiva, Hemivertebrae, Abnormal form of th...	ORPHA:3107
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Anteverted nares, Dental crowding, Depressed nasal bridge,...	OMIM:145420
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Depressed...	ORPHA:2136
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat...	OMIM:271650
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Sparse axillary hair, Hypoplasia of the maxilla, Sensorineural hearing impair...	OMIM:608154
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Joint stiffness, Kyphosis, Op...	ORPHA:2510
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Capitate-hamate fusion, Radial head subluxation, Wide nasal bridge, Cleft palate, C...	OMIM:614078
Eem Syndrome	Finger syndactyly, Absent eyebrow, Abnormality of retinal pigmentation, Ectrodactyly, Macular dys...	ORPHA:1897
Hallermann-Streiff Syndrome	Natal tooth, Alopecia, Sparse eyelashes, Choanal atresia, Abnormality of the dentition, Underdeve...	ORPHA:2108
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Broad toe, Epicanthus, Telecanthus, Rocker bottom foot, Short neck, Pectus excavatu...	OMIM:612582
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Down-sloping shoulders, Cubitus valgus, Pectus excavatum, Astigmatism, Camptodactyly, M...	OMIM:619694
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Abnormality of the kidney, Kyphosis, Spinal canal steno...	ORPHA:1724
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Limb joint contracture, Ataxia, Involuntary movements, Rigidity, Chorea, Babin...	OMIM:617282
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Hydrocephalus, Polydactyly, Microphthalmia, Nephroblastoma	OMIM:602501
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ...	OMIM:267760
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck, Postaxial hand polydacty...	OMIM:619879
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninur...	OMIM:204000
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly, Renal cyst, Oculomotor apraxia, Retinopathy	OMIM:614970
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, T...	ORPHA:293939
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Abnormal form of the vertebral bodies, Iris coloboma, Vertebral ...	OMIM:194190
Acrofacial Dysostosis 1, Nager Type	Subglottic stenosis, Sparse lower eyelashes, Micrognathia, Aqueductal stenosis, Absent lower eyel...	OMIM:154400
Cach Syndrome	Cataract, Optic atrophy, Renal hypoplasia, Optic neuritis, Intrauterine growth retardation	ORPHA:135
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Short thorax, Renal hypoplasia, Cutaneous syndactyly, ...	OMIM:617666
3M Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Anteverted nares, Abnormal dental enamel m...	ORPHA:2616
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Renal hypoplasia, Brachydactyly	OMIM:616589
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Prominent nose, Carious teeth, Long nose, Bulbous nose, Abnormal zygomatic...	ORPHA:2769
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Thick eyebrow, Prominent nasal bridge, Micrognat...	OMIM:300534
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Hip dysplasia, Vertebral segmentation defect, Polydactyly, Scoliosis, Long palp...	ORPHA:531151
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Abnormal eyelash ...	ORPHA:2399
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Myopia 27, Autosomal Dominant	Increased axial length of the globe	OMIM:618827
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinod...	OMIM:274000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp...	OMIM:208500
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci...	OMIM:602400
Fanconi Anemia	Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Finger syndactyly...	ORPHA:84
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sacral dimple, Postaxial polydactyly, Highly arched eyebrow, Trichiasis, Ep...	OMIM:618460
Peroxisomal Acyl-Coa Oxidase Deficiency	Babinski sign, Optic atrophy, Pigmentary retinopathy, Hypertonia, Dystonia, Rod-cone dystrophy	OMIM:264470
Emanuel Syndrome	Broad jaw, Congenital hip dislocation, Dental crowding, Intestinal malrotation, Delayed eruption ...	OMIM:609029
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy, Spasticity	OMIM:617613
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Abnormality of the philtrum, Sparse eyelashes, Cleft upper lip, Sparse eyebrow, Abn...	OMIM:225060
Atelosteogenesis, Type I	Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Vert...	OMIM:108720
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia, Craniosynostosis	OMIM:218670
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Short neck, Missing ribs, Renal hypoplasia/aplasia, Abnormality of the u...	ORPHA:1834
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ...	OMIM:616108
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattenin...	OMIM:241310
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Progeria-Short Stature-Pigmented Nevi Syndrome	Thoracic scoliosis, Alopecia, Selective tooth agenesis, Micrognathia, Dental malocclusion, Low po...	ORPHA:2959
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Corneal opacity, Coxa valga, Short neck, Hyperlordos...	ORPHA:582
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Anteverted nares, Brittle hair, Abnormality of hair texture, Carious ...	OMIM:219200
Odontomicronychial Dysplasia	Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Prematu...	ORPHA:1811
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Micrognathia, Congenital sensorineural hearing impairment, Sensorineur...	ORPHA:73272
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Short neck, Kyphoscoliosis, Sparse...	OMIM:302960
Immunodeficiency 49	Natal tooth, Posteriorly rotated ears, Micrognathia, Short philtrum, Wormian bones, Umbilical her...	OMIM:617237
Oculomaxillofacial Dysostosis	Median cleft lip, Camptodactyly of finger, Abnormality of the nose, Abnormality of the dentition,...	ORPHA:1794
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Deep philtrum, Synophrys, Protruding ear, Short philtrum, Joint contracture of the 5th finger, Ex...	OMIM:620098
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Megalocornea, Widely pa...	OMIM:228520
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Rocker bottom foot, Renal hypoplasia, Lacticaciduria, Aminoaciduria, 3-Methylglutaconic aciduria,...	OMIM:604273
Joubert Syndrome 3	Epicanthus, Ataxia, Retinal dystrophy, Highly arched eyebrow, Stage 5 chronic kidney disease, Pig...	OMIM:608629
Distal Deletion 12Q	Telecanthus, Broad hallux, Single transverse palmar crease, Overlapping toe, Ectopic kidney, Impa...	ORPHA:96149
Bamforth-Lazarus Syndrome	Abnormal hair quantity, Retrognathia, Choanal atresia, Cleft palate	ORPHA:1226
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Abnormal eyelid morphology, Tremor, Babinski sign, Impaire...	ORPHA:251282
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Focal Dermal Hypoplasia	Cleft ala nasi, Congenital hip dislocation, Anophthalmia, Brittle hair, Anteriorly placed anus, O...	OMIM:305600
Microcephaly-Capillary Malformation Syndrome	Wide nose, Hypoplasia of the maxilla, Abnormal hair whorl, Cleft palate, Low-set ears, Short nose...	OMIM:614261
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Broad nasal tip, Abnormality of the dentition	ORPHA:2776
Microcephaly-Cardiomyopathy Syndrome	Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Sandal gap	ORPHA:2515
Multiple Epiphyseal Dysplasia, Lowry Type	Micrognathia, Cleft hard palate, Broad nasal tip, Genu valgum, Knee flexion contracture, Fixed el...	ORPHA:166016
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Short neck, Short metatarsal, Renal cyst, Macular degeneration,...	OMIM:266920
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ...	ORPHA:352665
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Martsolf Syndrome 1	Thoracic scoliosis, Lumbar hyperlordosis, Depressed nasal bridge, Posteriorly rotated ears, Broad...	OMIM:212720
Usher Syndrome Type 1	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Abnormal ...	ORPHA:231169
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Low anterior hairline, Coronal craniosyn...	ORPHA:2095
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Hypoplas...	ORPHA:1782
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Ataxia, Corneal opacity, Cataract, Tremor, Incr...	ORPHA:812
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia ...	ORPHA:3082
Gracile Bone Dysplasia	Death in infancy, Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Micro...	OMIM:602361
Buratti-Harel Syndrome	Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate, Microtia, Hi...	OMIM:619314
Temple Syndrome	Hydrocephalus, Bifid uvula, Scoliosis	ORPHA:254516
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Wide nose, Sparse scalp hair, Prominent nasal bridge,...	ORPHA:85201
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal...	ORPHA:791
Fanconi Anemia, Complementation Group W	Absent thumb, Hypoplasia of the radius, Renal hypoplasia, Abnormal radial ray morphology, Intraut...	OMIM:617784
Peroxisome Biogenesis Disorder 1A (Zellweger)	Single transverse palmar crease, Aminoaciduria, Death in childhood, Ulnar deviation of the hand o...	OMIM:214100
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Sparse eyelashes, Camptodactyly of finger, Underdeveloped nasa...	ORPHA:306542
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ...	ORPHA:1436
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Chondroitin s...	OMIM:253010
Trisomy 12P	Thick eyebrow, Supernumerary nipple, Micrognathia, Wide nasal bridge, Cleft palate, Downturned co...	ORPHA:1699
Limb-Mammary Syndrome	Cleft palate, Hypoplastic nipples, Hypodontia, Joint contracture of the hand, Bifid uvula	OMIM:603543
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid uvula, Microtia, thir...	ORPHA:2554
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante...	OMIM:253000
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Axenfeld-Rieger Syndrome	Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Aplasia/Hypo...	ORPHA:782
Combined Oxidative Phosphorylation Deficiency 32	Death in infancy, Kyphoscoliosis, Tremor, Optic atrophy, Horseshoe kidney, Spasticity, Choreoathe...	OMIM:617664
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Hip dislocation, Death in adolescence, Pigmentary retinopathy, Scoliosis, Spasticity	OMIM:619059
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Ataxia, Pectus excavatum, Tremor, Gait ataxia, Impaired tactile sensa...	OMIM:619092
Cousin Syndrome	Prominent protruding coccyx, Microcornea, Hypoplastic iliac wing, Clinodactyly of the 5th finger,...	OMIM:260660
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Missing ribs, Optic atrophy, Abnor...	ORPHA:3301
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, High palate...	OMIM:135500
Zika Virus Disease	Optic disc hypoplasia, Ankle swelling, Macular atrophy, Miscarriage, Wrist swelling, Retinal pigm...	ORPHA:448237
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Optic atrophy, Diaphyseal thickening	ORPHA:1513
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Short neck, Ectopic kidney, Abnormal rib morphology, Vertebral segmentation defec...	ORPHA:2578
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Enlargement of the ankles, Carious teeth, Enlargement of the wrists, W...	OMIM:277440
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Schwartz-Jampel Syndrome	Micrognathia, Low anterior hairline, High palate, Wrist flexion contracture, Generalized hirsutis...	ORPHA:800
Aarskog-Scott Syndrome	Anteverted nares, Cleft upper lip, Hypoplasia of the maxilla, Widow's peak, Wide nasal bridge, Cl...	OMIM:305400
Hypertelorism, Microtia, Facial Clefting Syndrome	Broad nasal tip, Cleft upper lip, Micrognathia, Cleft palate, Microtia, Bifid nose, Atresia of th...	OMIM:239800
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Rubinstein-Taybi Syndrome 1	Dental crowding, Prominent nose, Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Lo...	OMIM:180849
Multiple Pterygium-Malignant Hyperthermia Syndrome	Prominent metopic ridge, Exaggerated cupid's bow, Prominent nasal bridge, Posteriorly rotated ear...	ORPHA:2215
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Holoprosencephaly 4	Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Sem...	OMIM:142946
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Aplasia of the nasal bone, Flexion contracture of finger, Prominent na...	OMIM:601812
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Advanced eruption of teeth, High palate, Mandibular prognathia, Hypertrichosis	OMIM:262190
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Clinodactyly of the 5th fi...	ORPHA:373
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Nasopalpebral Lipoma-Coloboma Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Sparse eyebrow, Widow's peak, Cupped ear, Wide...	OMIM:167730
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Alopecia, Abnormal hair pattern, Abnormality of the dentition, Malabso...	ORPHA:2315
Desmosterolosis	Low-set, posteriorly rotated ears, Depressed nasal bridge, Intestinal malrotation, Abnormality of...	ORPHA:35107
Microtriplication 11Q24.1	Attached earlobe, Joint dislocation, Wide nose, Thick eyebrow, Posteriorly rotated ears, Synophry...	ORPHA:289522
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Treacher Collins Syndrome 2	Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Mi...	OMIM:613717
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell...	OMIM:151210
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Multicystic kidney dysplasia, Kyphoscoliosis...	ORPHA:97360
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia, Depressed nasal bridge	OMIM:612463
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Multicystic kidney dys...	ORPHA:1318
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Hearing i...	OMIM:620114
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Abnormal dental enamel m...	ORPHA:439822
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Depressed nasal bridge, Cervical kyphosis, Micrognathia, Lacunar halos arou...	OMIM:256050
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te...	ORPHA:37553
Desmoid Tumor	Abnormality of retinal pigmentation, Abnormality of the upper urinary tract, Limitation of joint ...	ORPHA:873
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Epicanthus, Cataract, Broad hallux, Single transverse pal...	OMIM:614105
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Multiple Synostoses Syndrome 1	Carpal synostosis, Thin upper lip vermilion, Stapes ankylosis, Proximal/middle symphalangism of 5...	OMIM:186500
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft palate, Gl...	OMIM:620269
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Should...	OMIM:606612
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Chorioretinal coloboma, Limbal dermoid,...	ORPHA:857
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent nose, Bulbous n...	ORPHA:293725
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract	ORPHA:2528
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Myelomen...	ORPHA:1756
Vacterl Association With Hydrocephalus	Radial club hand, Stillbirth, Renal hypoplasia, Absent thumb	OMIM:276950
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Choanal atresia, Carious teeth, Absent eyelashes, Bulbous nose, Anosmia...	ORPHA:2316
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Occipital encephalocele, Posteriorly rotated ears, Hamartoma of t...	OMIM:615948
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Shashi-Pena Syndrome	Short metacarpal, Epicanthus, Unilateral renal agenesis, Highly arched eyebrow, Accelerated skele...	OMIM:617190
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Keipert Syndrome	Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Prominent nasal brid...	ORPHA:2662
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Anteverted nares, Posteriorly rotated ears, Abnormal pinna morphology, Highly ...	ORPHA:228396
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Thick eyebrow, Depressed nasal bridge, Highly arched eyebrow, Downturned corners of mouth, Everte...	OMIM:617865
X-Linked Charcot-Marie-Tooth Disease Type 3	Somatic sensory dysfunction, Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Hip dys...	ORPHA:101077
Floating-Harbor Syndrome	Enlarged joints, Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Abnormal anter...	ORPHA:2044
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, High palate, Exaggerated median...	OMIM:608670
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, D...	OMIM:300990
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Chorea, Reduced bone mineral density, Shoulder dislocation, Lagophtha...	ORPHA:404454
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Kyphoscoliosis	OMIM:617105
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Pachyonychia Congenita	Natal tooth, Alopecia, Angular cheilitis, Ear pain, Nail dystrophy, Advanced eruption of teeth, O...	ORPHA:2309
Pierpont Syndrome	Short toe, Broad palm, Short foot, Microcornea, Deep palmar crease, Short finger, Short palm, Pro...	OMIM:602342
Birk-Barel Syndrome	Microretrognathia, Tented upper lip vermilion, Highly arched eyebrow, High palate, Short philtrum...	OMIM:612292
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Toe syndactyly, Hydroureter, Single transverse palmar crease, Proximal placement of thumb, Limite...	OMIM:610759
Chime Syndrome	Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Depressed nasal ri...	ORPHA:3474
Prader-Willi Syndrome Due To Translocation	Prominent nose, Micrognathia, Downturned corners of mouth, High palate, Bifid uvula, Anteverted n...	ORPHA:177907
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Underdeveloped nasal alae, Long nose, Congenital stapes ankylosis, Proximal/mid...	OMIM:184460
Desbuquois Dysplasia 2	Lumbar hyperlordosis, Dental crowding, Depressed nasal bridge, Radial head subluxation, Synophrys...	OMIM:615777
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Pectus excavatum, Pectus...	OMIM:259440
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Classical-Like Ehlers-Danlos Syndrome Type 2	Joint dislocation, Thoracic scoliosis, Long uvula, Alopecia, Phalangeal dislocation, Kyphoscolios...	ORPHA:536532
Isolated Atp Synthase Deficiency	Cataract, Optic atrophy, Renal hypoplasia, 3-Methylglutaconic aciduria, Rod-cone dystrophy	ORPHA:254913
Bardet-Biedl Syndrome 6	Syndactyly, Hypospadias, Postaxial polydactyly, Renal cyst, Pigmentary retinopathy, Rod-cone dyst...	OMIM:605231
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis	OMIM:611590
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bra...	ORPHA:521406
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Cerebrooculofacioskeletal Syndrome 2	Cataract, Camptodactyly of finger, Rocker bottom foot, Developmental cataract, Microphthalmia, Mi...	OMIM:610756
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Hydrocephalus,...	OMIM:607361
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Trisomy 20P	Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Vertebral segmen...	ORPHA:261318
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Highly arched eyebrow, Cleft palate, Downturned corners of mouth, Ectopic ...	ORPHA:94066
Meckel Syndrome	Encephalocele, Ureteral duplication, Bowing of the long bones, Anophthalmia, Multicystic kidney d...	ORPHA:564
Raine Syndrome	Bowing of the long bones, Hydroureter, Micromelia, Pectus excavatum, Long hallux, Neonatal death,...	OMIM:259775
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Wid...	OMIM:618727
Shprintzen-Goldberg Craniosynostosis Syndrome	Anteverted nares, Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Hypoplasia o...	OMIM:182212
Craniosynostosis, Herrmann-Opitz Type	Craniosynostosis, Micrognathia, Cleft palate, Abnormal antihelix morphology, Microtia, Malar flat...	ORPHA:2145
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Genu valgum, Short p...	OMIM:619142
Mosaic Trisomy 1	Thoracic scoliosis, Single transverse palmar crease, Renal cyst, Finger clinodactyly, Congenital ...	ORPHA:1692
Neuronal Intestinal Pseudoobstruction	Natal tooth, Malabsorption	ORPHA:99811
Autosomal Recessive Stickler Syndrome	Micrognathia, Sensorineural hearing impairment, Cleft palate, Genu valgum, Irregular vertebral en...	ORPHA:250984
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C...	ORPHA:216873
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Hallux valgus, Thoracic scoliosis, Short neck, Bilateral ptosis, Osteoarthritis, Gene...	OMIM:618000
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Epicanthus, Wormian bones, Tapered finger, Flat acetabular roof, Upslanted p...	OMIM:617159
Anti-Glomerular Basement Membrane Disease	Arthritis, Persistence of primary teeth	ORPHA:375
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Generalized joint laxity, Tibial bowing, Narrow chest...	OMIM:613848
Hamel Cerebro-Palato-Cardiac Syndrome	Micrognathia, Bulbous nose, Cupped ear, Wide nasal bridge, Cleft palate, Narrow mouth, Malar flat...	ORPHA:93946
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Posteriorly rotated ears, Highly arched eyebrow, Cleft lip, Cleft pal...	OMIM:616898
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Low...	ORPHA:3201
Alagille Syndrome 1	Duplicated collecting system, Hypoplasia of the ulna, Posterior embryotoxon, Cataract, Band kerat...	OMIM:118450
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Anteverted nares, Abnormal pinna morphology, Protruding tongu...	OMIM:610253
Qazi-Markouizos Syndrome	Prominent nasal bridge, High, narrow palate, Hypoplasia of teeth, Delayed ossification of carpal ...	ORPHA:3010
Barber-Say Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal pinna morphology, Bulbous nose, Wide nasal ...	ORPHA:1231
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Kyphoscoliosis, Downslanted palpebral fissures, Postaxial pol...	OMIM:612913
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Short long bone, Polydactyly, Narrow chest, Scoliosis, Hepatic cy...	OMIM:613819
Harrod Syndrome	Multicystic kidney dysplasia, Cataract, Arachnodactyly, Hypospadias, Kyphosis, Hypopigmented skin...	ORPHA:2115
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Narrow nasal bridge, Hip contracture, Wide cranial sutures, Interphala...	OMIM:259600
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Hemiplegia, Abnormality of retinal pigmentation, Ptosis	ORPHA:2743
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Crumpled long bones, Corneal opacity, Metaphyseal widening, Abnormal vitreous...	ORPHA:2788
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:223800
Odontoonychodermal Dysplasia	Sparse scalp hair, Dry hair, Short nail, Sparse eyebrow, Abnormality of primary teeth, Agenesis o...	OMIM:257980
22Q11.2 Deletion Syndrome	Short neck, Abnormal eyelid morphology, Vesicoureteral reflux, Arachnodactyly, Hypospadias, Abnor...	ORPHA:567
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Bilateral single transverse palmar creases, Wide a...	ORPHA:44
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O...	OMIM:608728
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Micrognathia, Synophrys, Low anterior hairline, Protruding ear, Micro...	OMIM:613458
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic...	OMIM:263200
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Kyphoscoliosis, Short neck, Tremor, Flexion contr...	OMIM:300055
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Epicanthus, Cataract, Sclerocornea, Short neck, Pigmentary retinopa...	OMIM:614230
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge...	OMIM:601499
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Shallow orbits, Spina bi...	OMIM:150250
Ohdo Syndrome	Anteverted nares, Depressed nasal bridge, Hearing impairment, Micrognathia, Sparse eyebrow, Wide ...	OMIM:249620
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Wide nose, Prominent nasal bridge, Convex nasal ridge, Prominent nose, Cubitus valgus, Dental mal...	OMIM:601552
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Vici Syndrome	Abnormality of retinal pigmentation, Death in infancy, Cataract, Joint stiffness, Optic atrophy, ...	ORPHA:1493
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Midline defect of the nose, Bifid no...	OMIM:229400
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Proximal femoral metaphyseal irregularity, Subretinal deposits, Early ossification of capital fem...	ORPHA:397715
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Abnormality of the dentition	ORPHA:289494
Narp Syndrome	Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ba...	ORPHA:644
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Depressed nasal bridge, Anteverted nares, Abnormal hair morphology, Supernumerary tooth, Thin ver...	ORPHA:86818
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the...	OMIM:184250
Cole-Carpenter Syndrome	Delayed eruption of teeth, Communicating hydrocephalus, Abnormal dental enamel morphology, Microg...	ORPHA:2050
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Wide nasal bri...	ORPHA:3079
Temtamy Syndrome	Dental crowding, Highly arched eyebrow, Micrognathia, Lop ear, Hip dislocation, Hypoplasia of tee...	OMIM:218340
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis, Median cleft lip, High palate, Bifid uvula	OMIM:155145
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Optic disc pallor, Cataract, Hypospadias, Camptodactyly of finger, Ectopic kidn...	OMIM:607872
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Wide an...	OMIM:614886
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia...	OMIM:613390
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Hydrocephalus, Spinal dysraphism, Micropenis, Apl...	ORPHA:1926
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short neck, Multiple prenatal fractures, Beaded ribs, Flexion contracture, Micropenis...	OMIM:616897
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Optic atrophy, Megalopapilla, Renal cyst, B...	OMIM:615636
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Hypoplastic sweat glands, Oligo...	OMIM:601345
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip...	OMIM:618395
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Thin upper lip vermilion, Dental crowding, Prominent nasal bridge, Micrognat...	OMIM:309520
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Optic atrophy,...	ORPHA:33445
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achilles tendon contra...	OMIM:607155
Isolated Succinate-Coq Reductase Deficiency	Ataxia, Spastic tetraparesis, Babinski sign, Knee flexion contracture, Pigmentary retinopathy, Lo...	ORPHA:3208
Retinitis Pigmentosa 40	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo...	OMIM:613801
Frontometaphyseal Dysplasia 2	Subglottic stenosis, Congenital hip dislocation, Deep philtrum, Low anterior hairline, High palat...	OMIM:617137
Klippel-Feil Syndrome 2, Autosomal Recessive	Abnormal pinna morphology, Cleft upper lip, Sensorineural hearing impairment, Cleft palate, Low p...	OMIM:214300
Vertebral Hypersegmentation And Orofacial Anomalies	Anteverted nares, Supernumerary nipple, Micrognathia, Widow's peak, Submucous cleft hard palate, ...	OMIM:619122
Atelis Syndrome 1	Glue ear, Prominent nose, Carious teeth, Microtia, High palate, Long philtrum	OMIM:620184
Oculopharyngodistal Myopathy 3	Tremor, Pigmentary retinopathy, Ataxia, Ptosis	OMIM:619473
Ring Chromosome 10 Syndrome	Sandal gap, Tapered finger, Pectus excavatum, Renal hypoplasia/aplasia, Microphthalmia, Intrauter...	ORPHA:1438
Kapur-Toriello Syndrome	Cataract, Single transverse palmar crease, Camptodactyly of finger, Short thumb, Micropenis, Abno...	OMIM:244300
Ring Chromosome 7 Syndrome	Mandibular prognathia, Small earlobe, Anteverted nares, Prominent nasal bridge, Highly arched eye...	ORPHA:1449
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal...	OMIM:174300
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Submucous cl...	OMIM:613805
Abruzzo-Erickson Syndrome	Cleft palate, Protruding ear, Radioulnar synostosis, Macrotia, Hearing impairment	OMIM:302905
Dubowitz Syndrome	Micrognathia, Rectal prolapse, Low anterior hairline, Protruding ear, High palate, Spina bifida o...	ORPHA:235
Doors Syndrome	Short lingual frenulum, Hemivertebrae, Low anterior hairline, Downturned corners of mouth, Widely...	ORPHA:79500
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Delayed closure of the anterior fontanelle, Micrognathia,...	OMIM:224300
Congenital Myopathy 17	Ureteropelvic junction obstruction, Overlapping toe, Tapered finger, Pectus excavatum, Renal hypo...	OMIM:618975
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Cupped ribs, Obesity...	OMIM:250420
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Anotia, Microti...	OMIM:616462
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Cleft lip, Deep philtrum, Bulbous nose, Wide nasal bridge, Cleft palate, Protr...	OMIM:618571
Seckel Syndrome 2	Few cafe-au-lait spots, Hypospadias, Ectopic kidney, Clinodactyly of the 5th finger, Microphthalmia	OMIM:606744
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Velocardiofacial Syndrome	Underdeveloped nasal alae, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robi...	OMIM:192430
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Recurrent frac...	ORPHA:394
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Cataract, Preaxial polydactyly, Scoliosis, Spina bifida occult...	ORPHA:64754
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of the 5th fin...	ORPHA:2636
Acrofacial Dysostosis, Catania Type	Carious teeth, Widow's peak, Spina bifida occulta	OMIM:101805
Multiple Sulfatase Deficiency	Broad hallux phalanx, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Joint stiff...	ORPHA:585
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Abnormal pinna morphology, Prominent nose, Micrognathi...	OMIM:210600
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, ...	ORPHA:3404
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate...	OMIM:142945
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce...	OMIM:601349
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Camptodactyly of finger, Carious teeth, Kyphosis, Sensorineural hearing impairment,...	ORPHA:1883
Peters-Plus Syndrome	Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Hemivert...	OMIM:261540
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Cln3 Disease	Cataract, Ataxia, Bull's eye maculopathy, Extrapyramidal muscular rigidity, Optic atrophy, Bradyk...	ORPHA:228346
Zechi-Ceide Syndrome	Wide nose, Cleft upper lip, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Oligodont...	OMIM:612916
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Overhanging nasal tip, Cleft soft palate, Eosinophilic infiltration o...	OMIM:615582
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Epicanthus, Thick eyebrow, Tremor, Synophrys, Prominent protruding coccyx, Spastic diplegia, Long...	ORPHA:480907
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Postaxial hand p...	OMIM:236700
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Abnormally large globe, Anteriorly placed anus...	OMIM:239300
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper limb amyotrophy, Scoliosis	ORPHA:101075
Coffin-Siris Syndrome 12	Micrognathia, Synophrys, Low anterior hairline, Protruding ear, High palate, Simple ear, Antevert...	OMIM:619325
Fgfr2-Related Bent Bone Dysplasia	Overfolding of the superior helices, Natal tooth, Micrognathia, Gingival overgrowth, Metopic depr...	ORPHA:313855
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Abnormal dental enamel morphology, Choanal atresia, High, narrow palate, H...	ORPHA:2658
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Deep philtrum, Coarse hair, High palate, Widely spaced teeth, Thickened helices, Sparse hair, Bif...	OMIM:617506
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Abnormality of skin pigmentation, Chorio...	ORPHA:2092
Dworschak-Punetha Neurodevelopmental Syndrome	Vesicoureteral reflux, Optic disc hypoplasia, Unilateral renal hypoplasia	OMIM:619955
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Pallister-Hall-Like Syndrome	Occipital encephalocele, Median cleft lip, Depressed nasal bridge, Micrognathia, Hydrocephalus, H...	OMIM:241800
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Intrauterine growth retardation, Postaxial hand polydactyly, Renal hypoplasia	ORPHA:75389
Holoprosencephaly 2	Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Alobar holoprosencephaly, Submuc...	OMIM:157170
Greenberg Dysplasia	Micromelia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, T...	OMIM:215140
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Cataract, Hemiplegia/hemiparesis, Abnormal opti...	ORPHA:65
Kleefstra Syndrome	Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu...	ORPHA:79404
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Posteriorly rotated ears, Choanal atresia, Optic nerve hypoplasia, Cleft upper lip, Abnormal hair...	OMIM:607597
Holt-Oram Syndrome	Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Abnorma...	ORPHA:392
Axial Osteomalacia	Renal cyst	OMIM:109130
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Chromosome 3Pter-P25 Deletion Syndrome	Sacral dimple, Epicanthus, Overlapping toe, Prominent metopic ridge, Postaxial polydactyly, Taper...	OMIM:613792
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal dental morphology, Premature loss of primary teeth, Abnormal hair morphology, ...	ORPHA:248
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Sensorineural hearing impairment, Submucous cleft hard palate, Spinal dysraphism, Incomplete part...	OMIM:617660
Marbach-Rustad Progeroid Syndrome	Delayed eruption of primary teeth, Micrognathia, Eruption failure, Hypodontia, Narrow mouth, Worm...	OMIM:619322
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Brittle hair, Synophrys, Anteriorly placed anus, Glossop...	OMIM:602535
Microcephalic Primordial Dwarfism, Toriello Type	Cataract, Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Proportionate shortening of all digits, Tapered finger, Small hand, Hypertrophy of t...	ORPHA:280633
White Forelock With Malformations	Finger syndactyly, Epicanthus, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperf...	ORPHA:2475
Isolated Polycystic Liver Disease	Multiple renal cysts	ORPHA:2924
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Intestinal pseudo-obstruction, Kyphosis, Hydrocephalus, Thick lower li...	OMIM:309900
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella...	OMIM:609945
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, S...	OMIM:612530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus	OMIM:614830
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Prominent metopic ridge, Craniosynostosis, Underdeveloped nasal alae, Wide nasal bridge, Cleft pa...	ORPHA:453499
Phaver Syndrome	Broad hallux phalanx, Epicanthus, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal...	ORPHA:2876
Hadziselimovic Syndrome	Renal hypoplasia	OMIM:612946
Hemifacial Microsomia With Radial Defects	Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of the external auditory ...	OMIM:141400
Schneckenbecken Dysplasia	Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Adva...	OMIM:269250
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Cone-shaped epiphyses of the phalanges ...	OMIM:617781
Multicentric Carpotarsal Osteolysis Syndrome	Ankle swelling, Micrognathia, Hypoplasia of the maxilla, Wrist swelling, Carpal osteolysis, Bilat...	OMIM:166300
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Tremor, Bilateral ptosis, Optic atrophy, Scoliosis, Dystonia	ORPHA:330050
Lethal Acantholytic Erosive Disorder	Natal tooth, Absent eyebrow, Abnormal pinna morphology, Absent eyelashes, Cleft palate, Abnormal ...	ORPHA:158687
Ctcf-Related Neurodevelopmental Disorder	Synophrys, Short philtrum, Joint contracture of the 5th finger, Microdontia, Low-set, posteriorly...	ORPHA:363611
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the knee, Cleft soft palate, Kyphoscoliosis, Abnormality of the wrist, Micrognathi...	ORPHA:93316
Van Den Ende-Gupta Syndrome	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Protruding ear, Kn...	OMIM:600920
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Wide nose, Anteverted nares, Kyphoscoliosis, Micrognathia, Sensorineura...	ORPHA:391408
Proboscis Lateralis	Abnormal eyebrow morphology, Aplasia/Hypoplasia of the maxilla, Anophthalmia, Abnormal location o...	ORPHA:141099
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia	OMIM:129550
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Abnormality of the dentition, Micrognathia, Kyphosis, Synophrys, Eruption failur...	ORPHA:476126
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Highly arched eyebrow, Underdeveloped nasal alae, Cleft palate, Malar f...	OMIM:611867
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Hyd...	OMIM:259710
Orofaciodigital Syndrome Type 14	Microretrognathia, Low-set, posteriorly rotated ears, Accessory oral frenulum, Hamartoma of tongu...	ORPHA:434179
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Renal hypoplasia, Short foo...	ORPHA:264200
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Kyphosis, Hydrocephalus, Thickened...	ORPHA:77301
Blepharonasofacial Malformation Syndrome	Wide nose, Underdeveloped nasal alae, External ear malformation, Abnormal eyelash morphology, Non...	ORPHA:1252
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Joint dislocation, Sparse scalp hair, Genu recurvatum, Phalangeal dislocation, Craniosynostosis, ...	OMIM:130070
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Camptodactyly of finger, Supernumerary nipple, Micrognathia, N...	ORPHA:246
Roberts-Sc Phocomelia Syndrome	Short neck, Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, Shallow orbits, Phocomeli...	OMIM:268300
Acrodysostosis 1 With Or Without Hormone Resistance	Delayed eruption of teeth, Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Broad...	OMIM:101800
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard...	ORPHA:2588
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Thin upper lip vermilion, Highly arched eyebrow, Downturned corners of mouth, Short philtrum, Sco...	OMIM:619121
Saethre-Chotzen Syndrome	Delayed cranial suture closure, Long nose, Prominent crus of helix, Hypoplasia of the maxilla, Cl...	OMIM:101400
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M...	ORPHA:290
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Absence of renal corticomedullary differentiation, Renal hypoplasia, Short foot, Clinodactyly of ...	OMIM:619758
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Urinary incontinence, Clonus, Tremor, Spastic paraplegia, Impaired vibrati...	OMIM:600363
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Bloom Syndrome	Prominent nose, Recurrent upper respiratory tract infections, Agenesis of maxillary lateral incis...	OMIM:210900
Catel-Manzke Syndrome	Joint dislocation, Cleft upper lip, Micrognathia, Pierre-Robin sequence, Cleft palate, Genu valgu...	OMIM:616145
Lateral Meningocele Syndrome	Dental crowding, Micrognathia, Coarse hair, High palate, Conductive hearing impairment, Vertebral...	OMIM:130720
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Craniosynostosis, Pectus excavatum, Upper limb undergrowth, Renal cyst, Obesity, Nephrocalcinosis...	ORPHA:369837
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Abnormality of the kidney, Macular degeneration, Polydac...	OMIM:613464
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Rieger anomaly, Wide ...	ORPHA:521445
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Small for gestational age, Delayed closure of the anterior fontanelle, Upper limb asymmetry, Poly...	ORPHA:231140
12Q14 Microdeletion Syndrome	Ectopic kidney, Renal hypoplasia, Horseshoe kidney, Clinodactyly of the 5th finger, Intrauterine ...	ORPHA:94063
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Hypoplasia of the bladder, Renal agenesis, Camptodactyly of...	OMIM:249000
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
3Q29 Microdeletion Syndrome	Cataract, Hypospadias, Tapered finger, Pectus excavatum, Horseshoe kidney, Pectus carinatum, Abno...	ORPHA:65286
Joubert Syndrome 27	Ataxia, Dilatation of the renal pelvis, Gait ataxia, Polydactyly, Oculomotor apraxia, Retinopathy	OMIM:617120
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Epicanthus, Long palm, Arachnodactyly, Missing ribs, Hemivertebrae, Abnormal rib morphology, Abno...	ORPHA:2759
Kagami-Ogata Syndrome	Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla...	OMIM:608149
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Enlarged joints, Tapered finger, Pectus excavatum, Flattened epiphysis, Gen...	OMIM:607131
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Anteverted nares, Limited elbow movement, Micrognathi...	OMIM:615065
Kinsship Syndrome	Osteopenia, Single transverse palmar crease, Short neck, Synophrys, Dislocated radial head, Death...	OMIM:619297
Smith-Lemli-Opitz Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Holoprosencephaly, Advanced eruption of teet...	ORPHA:818
2P15P16.1 Microdeletion Syndrome	Enlarged thorax, Bilateral single transverse palmar creases, Multicystic kidney dysplasia, Promin...	ORPHA:261349
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Accessory oral frenulum, Depressed nasal tip, Hypoplasia of teeth, Scoliosis	ORPHA:88630
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Acrofacial Dysostosis, Catania Type	Smooth philtrum, Microretrognathia, Low-set, posteriorly rotated ears, Abnormal hair pattern, Abn...	ORPHA:1786
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Impaired distal proprioception, Tremor, Flexion contracture, Impaired vibration s...	ORPHA:137898
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short neck, Flexion contracture, Pectus carinatum, Thoracic kyphosis, Conjunctivitis, Barrel-shap...	ORPHA:505248
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Crowded maxillary incisors, Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:397973
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the middle ear ossicles, Non-midline cleft lip, Abnormality of the inner ear, Sens...	ORPHA:2549
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Hypoplasia of penis, Cataract, Renal insufficiency, Renal hypoplasia, Umbilical hernia, Renal dys...	ORPHA:85321
Trisomy 8P	Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Hydrocephalus, Malrotation of...	ORPHA:264450
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Sparse eyelashes, Craniosynostosis, Sparse eyebrow, Meta...	OMIM:250410
Branchiootic Syndrome 1	Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea...	OMIM:602588
Joubert Syndrome 37	Prominent metopic ridge, Lumbar hyperlordosis, Postaxial polydactyly, Oculomotor apraxia, Micrope...	OMIM:619185
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Pectus excavatum, Tremor, Generalized joint laxit...	ORPHA:502423
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Mixed hearing impairment, Enlarged joints, Depressed nasal bridge, Anteverted nares, Lumbar hyper...	OMIM:215150
Omodysplasia 2	Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Posteriorly rotated ears...	OMIM:164745
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sensorineural hea...	OMIM:109120
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy...	ORPHA:300298
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Oculogastrointestinal Neurodevelopmental Syndrome	Coloboma, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney	OMIM:619318
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Neonatal d...	OMIM:614922
Tetraploidy	Micrognathia, Cleft palate, Short philtrum, Hypoplasia of the ear cartilage, Aplasia/Hypoplasia a...	ORPHA:3305
Pierpont Syndrome	Short toe, Microcornea, Deep palmar crease, Short finger, Prominent fingertip pads, Microphthalmi...	ORPHA:487825
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Synophrys, Flexion contracture, Abnormal pyramidal sign, Abnormal f...	ORPHA:581
Loeys-Dietz Syndrome 4	Protrusio acetabuli, Eosinophilic infiltration of the esophagus, High, narrow palate, High palate...	OMIM:614816
Trisomy 18	Abnormality of retinal pigmentation, Epicanthus, Cataract, Camptodactyly of finger, Abnormality o...	ORPHA:3380
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, Hamartom...	OMIM:615108
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Selective tooth a...	ORPHA:2909
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Arterial Tortuosity Syndrome	Hiatus hernia, Micrognathia, Bifid uvula, Umbilical hernia, High palate, Scoliosis, Long philtrum...	OMIM:208050
Oeis Complex	Duplicated collecting system, 11 pairs of ribs, Congenital hip dislocation, Hydroureter, Renal ag...	OMIM:258040
Congenital Disorder Of Glycosylation, Type 2V	Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Cleft palat...	OMIM:619493
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Metaphyseal widening, Abnormal thorax morphology, Abnormal form of the vertebral bodies, Triangul...	ORPHA:73230
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Patellar apl...	OMIM:613804
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Abnormal pinna morphology, Prominent nasal bridge, Choanal atresia, Sensorineural hearing impairm...	ORPHA:52055
Bor Syndrome	Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ...	ORPHA:107
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho...	OMIM:309620
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Mulibrey Nanism	Single transverse palmar crease, Corneal dystrophy, Thickened cortex of long bones, Pigmentary re...	OMIM:253250
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m...	ORPHA:2021
Myopathy, Mitochondrial, And Ataxia	Ataxia, Pectus excavatum, Tremor, Delayed skeletal maturation, Limb ataxia, Distal sensory impair...	OMIM:617675
Alg9-Cdg	Villous atrophy, Micrognathia, Large fleshy ears, Bifid uvula, Microretrognathia, Low-set, poster...	ORPHA:79328
Microphthalmia, Syndromic 9	Renal malrotation, Anophthalmia, Bilateral microphthalmos, Renal hypoplasia, Horseshoe kidney, Ne...	OMIM:601186
Bardet-Biedl Syndrome 8	Rod-cone dystrophy, Hypospadias, Renal dysplasia, Postaxial polydactyly	OMIM:615985
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Cataract, Abnormal rib morphology, Micromelia	ORPHA:2772
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Hip dislocation, Oligodontia, Hypodontia	OMIM:614381
Native American Myopathy	Micrognathia, Conductive hearing impairment, Cleft palate, Downturned corners of mouth, High pala...	ORPHA:168572
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Optic atrophy, Renal hypoplasia, Tubulointer...	OMIM:617595
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Recombinant 8 Syndrome	Anteverted nares, Depressed nasal bridge, Hearing impairment, Cleft upper lip, Abnormality of the...	ORPHA:96167
Arboleda-Tham Syndrome	Mandibular prognathia, Anteverted ears, Downturned corners of mouth, Short philtrum, Chronic otit...	OMIM:616268
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia, Kyphoscoliosis	ORPHA:466722
Ogden Syndrome	Congenital hip dislocation, Short neck, Abnormal eyelid morphology, Hypertonia, Clinodactyly of t...	OMIM:300855
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal ...	ORPHA:3109
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Broad nasal tip, Carious teeth, Thick vermilion border, Enamel hypoplasia, Sparse lateral eyebrow	ORPHA:363523
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Esophageal atresia, Spina bifida occulta, Tracheoesophageal fistula, Prot...	OMIM:301030
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Warburg Micro Syndrome 1	Overlapping toe, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia	OMIM:600118
Suleiman-El-Hattab Syndrome	Optic disc pallor, Epicanthus, Single transverse palmar crease, Highly arched eyebrow, Synophrys,...	OMIM:618950
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Micrognathia, Carious teeth, Glossoptosis, Platyspondyly, Delayed ...	ORPHA:93346
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Trisomy 8Q	Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Non-midline cleft lip, ...	ORPHA:1752
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta 2-microglobulin...	ORPHA:97362
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Branchiootic Syndrome	Branchial fistula, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnormality of the in...	ORPHA:52429
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Short nail, Deep philtrum, L...	ORPHA:1675
Jaberi-Elahi Syndrome	Appendicular spasticity, Cataract, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Kyphosis, T...	OMIM:617988
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb, Intrauterine growth retardation, Multiple cafe-au-lait spots	OMIM:609054
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract	OMIM:601794
Microphthalmia, Syndromic 1	Anophthalmia, Abnormal palmar dermatoglyphics, Microcornea, Narrow chest, Chorioretinal coloboma,...	OMIM:309800
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract	ORPHA:363741
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me...	OMIM:602111
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, An...	OMIM:164210
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Palpebral edema, Ectopia lentis, Iris coloboma, Ptosis	ORPHA:1259
Short Syndrome	Delayed eruption of teeth, Rieger anomaly, Underdeveloped nasal alae, Micrognathia, Sensorineural...	OMIM:269880
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Abnormality of retinal pigmentation, Pectus excavatum, Kyphosis, Genu varum, M...	ORPHA:1969
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tapered finger, Tremor, Flexion contracture, Optic atrophy, Babinski sign, Dysmetria, Gai...	OMIM:616505
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Glass Syndrome	Dental crowding, Conical tooth, Long nose, Micrognathia, Oligodontia, High palate, Sparse hair, A...	OMIM:612313
Ritscher-Schinzel Syndrome 1	Depressed nasal bridge, Micrognathia, Hydrocephalus, Hemivertebrae, Cleft palate, Low posterior h...	OMIM:220210
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Promin...	ORPHA:435638
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly, Obesity, Large for gestational age	OMIM:617119
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Sparse scalp hair, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Sparse eyebro...	ORPHA:459061
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Small hand, Antecubital pterygium, Popliteal pterygium, Absent d...	OMIM:619339
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Absent nares, Holoprose...	ORPHA:990
Pachyonychia Congenita 2	Natal tooth, Sparse scalp hair, Dry hair, Angular cheilitis, Sparse eyebrow, Nail dystrophy, Oral...	OMIM:167210
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Campomelia, Cumming Type	Pancreatic cysts, Bowing of the long bones, Polycystic kidney dysplasia	OMIM:211890
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Camptodactyly of finger, Microcornea, Microphthalmia, Intrauterine growth retardation	ORPHA:48431
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, ...	OMIM:247200
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Absent eyebrow, Short metacarpal, Craniosynostosis, Absent eyelashes, Metaphyseal ...	ORPHA:166035
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Syndactyly, Down-sloping shoulders, Metatarsus adductus, Pectus excavatum, Hype...	OMIM:227330
Cockayne Syndrome	Urinary incontinence, Congenital contracture, Progressive gait ataxia, Lentiglobus, Retinal arter...	ORPHA:191
Septooptic Dysplasia	Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger	OMIM:182230
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo...	ORPHA:3232
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Hypoplasia of penis, Hyperlordosis, Delayed skeletal maturation, Limit...	ORPHA:3068
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Urinary incontinence, Hand muscle weakness, Tremor, Tongue tremor, Hypertonia, Impaired vibratory...	ORPHA:466768
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Telecanthus, White eyelashes, White eyebrow, Abnormality of retinal ...	ORPHA:897
Pallister-Hall Syndrome	Ectopic kidney, Hemivertebrae, Micropenis, Mesoaxial polydactyly, Radial bowing, Hypospadias, Rib...	ORPHA:672
Werner Syndrome	Renal neoplasm, Increased bone mineral density, Cataract, Abnormality of retinal pigmentation, Ro...	ORPHA:902
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hemivertebrae, Lumbar hyperlordosis, Arachnodactyly, Sagittal craniosynostosis, Sparse eyebrow, R...	ORPHA:500150
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge, Abnormal palate morphology	ORPHA:1540
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Abnormal dental morphology, Anteverted nares, Slow-growing hai...	ORPHA:238468
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Toe syndactyly, Hydroureter, Renal agenesis, Split...	OMIM:604292
Short Stature, Microcephaly, And Endocrine Dysfunction	Cataract, Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Micropenis, Limb undergrow...	OMIM:616541
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi...	OMIM:105830
Mandibuloacral Dysplasia	Alopecia, Dental crowding, Delayed cranial suture closure, Micrognathia, Abnormally large globe, ...	ORPHA:2457
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Unilateral renal agenesis, P...	OMIM:618142
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Lateral cla...	OMIM:617895
De Barsy Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle...	ORPHA:2962
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius	ORPHA:3469
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis,...	ORPHA:85199
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hyp...	OMIM:311900
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge...	ORPHA:828
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Pulp calcification, Taurodontia, Enamel hypoplasia	OMIM:211900
Teeth Present At Birth	Natal tooth	OMIM:187050
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Pectus...	OMIM:263750
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Ataxia, Short toe, 2-3 toe synd...	OMIM:139210
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema, Lens subluxation, Short neck	ORPHA:3456
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Craniosynostosis, Humeroradial syno...	OMIM:251230
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Prominent nasal bridge, Sensorineural hearing impairment, Large knee, Delayed eruption of permane...	OMIM:619269
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Lumbar hyperlordosis, Depressed nasal bridge, Ovoid vertebral bodies, ...	OMIM:253200
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, Hamartom...	OMIM:615109
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, Dentinogenesis i...	OMIM:166220
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Bartsocas-Papas Syndrome	Median cleft lip, Alopecia totalis, Underdeveloped nasal alae, Micrognathia, Cleft palate, Poplit...	ORPHA:1234
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephr...	OMIM:203500
Ramon Syndrome	Delayed eruption of teeth, Kyphosis, Gingival fibromatosis, Narrow palate, Hypertrichosis, Scolio...	OMIM:266270
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Epicanthus, Ovoid vertebral bodies, Short hallux, Coxa v...	ORPHA:1517
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema	OMIM:314600
Curry-Jones Syndrome	Bicoronal synostosis, Occipital meningocele, Wormian bones, Duplication of thumb phalanx, Preaxia...	OMIM:601707
Familial Congenital Mirror Movements	Poor fine motor coordination, Fused cervical vertebrae, Cerebral palsy, Clumsiness	ORPHA:238722
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Dystonia, Bull's eye maculopathy, Parkinsonism, Rigidity, Fractures of the long bones...	ORPHA:157850
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Anteverted nares, Uplifted earlobe, Kyphosis, Cleft palate, Furrowed ...	OMIM:616449
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation	OMIM:264270
15Q14 Microdeletion Syndrome	Prominent nasal bridge, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Low...	ORPHA:261190
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Recurrent fractures, Ricket...	OMIM:268315
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Optic atrophy, Hip dysplasia, Astigmatism, Chorioretinal coloboma, Peters anomaly, V...	ORPHA:494344
Hurler Syndrome	Abnormal clavicle morphology, Short neck, Abnormal pyramidal sign, Abnormality of skin pigmentati...	ORPHA:93473
Joubert Syndrome 10	Epicanthus, Rod-cone dystrophy, Downslanted palpebral fissures, Postaxial polydactyly	OMIM:300804
Microphthalmia With Linear Skin Defects Syndrome	Wide nose, Anophthalmia, Abnormal dental enamel morphology, Hearing impairment, Micrognathia, Abn...	ORPHA:2556
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Anteverted nares, Sparse eyelashes, Abnormality of hair texture, Woolly hair, Retro...	OMIM:234050
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders,...	ORPHA:85293
Lopes-Maciel-Rodan Syndrome	Tremor, Kyphosis, Small hand, Abnormal pyramidal sign, Short foot, Ankle clonus, Bradykinesia, Hy...	OMIM:617435
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Short neck, Limitation of joint mobility, Abnormality of the elbow, Abnormal...	ORPHA:1486
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand...	OMIM:200600
Lissencephaly 8	Occipital encephalocele, Cataract, Optic atrophy, Talipes equinovarus, Microphthalmia	OMIM:617255
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Ky...	OMIM:309350
Rabson-Mendenhall Syndrome	Mandibular prognathia, Wide nose, Dental crowding, Anteverted nares, Prominent nasal bridge, Abno...	ORPHA:769
Parietal Foramina 1	Encephalocele, Wormian bones, Cleft palate, Cleft upper lip	OMIM:168500
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Mucopolysaccharidosis, Type X	Spatulate ribs, Hyperlordosis, Broad clavicles, Vitreous floaters, Nephrolithiasis, Dermatan sulf...	OMIM:619698
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ...	ORPHA:508488
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Anteverted nares, Posteriorly rotated ears, Camptodactyly of finger,...	ORPHA:2462
Steinfeld Syndrome	Median cleft lip and palate, Abnormal pinna morphology, Aplasia of the nose, Holoprosencephaly, M...	OMIM:184705
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Dental crowding, Delayed cranial suture closure, Narrow nasal ridge, Micr...	OMIM:608612
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Supernumerary tooth, Aplasia o...	OMIM:617088
Grant Syndrome	Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Decreased skull ossificatio...	ORPHA:2097
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Depressed nasal bridge, Abnormal pinna morphology, Esophageal diverticulum, Hamartom...	OMIM:617925
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Optic atrophy, Scoliosis	ORPHA:99014
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Micrognathia, Hyperlordosis, Abnormality of hair texture, Synophrys, Dental malocclusion, Wide na...	ORPHA:73223
Noonan Syndrome 4	Ureteral duplication, Pectus excavatum of inferior sternum, Large for gestational age, Pectus exc...	OMIM:610733
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Carious teeth, Alopecia, Hypodontia, Kyphoscoliosis	OMIM:612079
Wrinkly Skin Syndrome	Delayed eruption of teeth, Microretrognathia, Congenital hip dislocation, Wormian bones, Delayed ...	OMIM:278250
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Bilateral conductive hearing impai...	ORPHA:2010
Zellweger Syndrome	Death in infancy, Multicystic kidney dysplasia, Epicanthus, Hypospadias, Corneal opacity, Catarac...	ORPHA:912
Acitretin/Etretinate Embryopathy	Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Cupped ear, Antecubital pteryg...	ORPHA:40366
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta...	OMIM:619227
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Cockayne Syndrome Type 3	Optic disc pallor, Renal insufficiency, Retinal atrophy, Retinal dystrophy, Cataract, Neurogenic ...	ORPHA:90324
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epi...	ORPHA:1433
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair, Dental crowding, Prominent nasal bridge, Long nose, Pierre-Robin sequence, Cleft pa...	OMIM:619184
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Renal hypoplasia, Bilateral talipes equin...	OMIM:614083
Senior-Loken Syndrome 8	Global glomerulosclerosis, Retinal dystrophy, Macular atrophy, Glomerular subepithelial immune-co...	OMIM:616307
Mosaic Trisomy 8	Corneal opacity, Camptodactyly of finger, Short neck, Limitation of joint mobility, Patellar apla...	ORPHA:96061
Parkinson-Dementia Syndrome	Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign	OMIM:260540
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Hyperopic astigmatism, Irregula...	OMIM:252600
3Mc Syndrome 3	Sacral dimple, Corneal opacity, Highly arched eyebrow, Epicanthus inversus, Preaxial polydactyly,...	OMIM:248340
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Abnormality of the ureter, Obesity,...	ORPHA:3409
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Osteoglophonic Dysplasia	Delayed eruption of teeth, Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Choan...	OMIM:166250
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Coloboma, Clinodactyly of the 5th finger, M...	OMIM:617306
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Hypospadias, Polydactyly, Hypoplastic ischia	OMIM:616910
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Broad hallux, Hypospadias, Tapered finger, Pectus excavatum, Long fingers, Short t...	OMIM:618659
Eiken Syndrome	Persistence of primary teeth, Thick lower lip vermilion, Flat acetabular roof, Eruption failure, ...	OMIM:600002
Waardenburg Syndrome, Type 1	Telecanthus, White eyelashes, White eyebrow, Partial albinism, Synophrys, Blue irides, Premature ...	OMIM:193500
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Ataxia, Hemiplegia/hemiparesis, Optic atrophy, Clinodactyly ...	ORPHA:1173
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Pyloric stenosis, Enamel hypoplasia, Nail dystrophy	OMIM:226700
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Intrauterine ...	ORPHA:1506
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Scoliosis	ORPHA:101078
Brachytelephalangic Chondrodysplasia Punctata	Mixed hearing impairment, Optic disc hypoplasia, Cervical kyphosis, Optic nerve hypoplasia, Broad...	ORPHA:79345
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Short neck, Hemivertebrae, Abnormal rib morphology, Abnormal form of the ver...	ORPHA:2234
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Distal Deletion 19P	Low-set, posteriorly rotated ears, Alopecia, Hypoplasia of the maxilla, Sensorineural hearing imp...	ORPHA:96129
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Microphthalmia, Smooth philtrum	OMIM:614526
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Atypical Rett Syndrome	Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Small hand, Limb myoc...	ORPHA:3095
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Thick eyebrow, Posteriorly rotated ears, Carious ...	OMIM:619229
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Bulbous...	OMIM:603736
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Abnormal eyelash morphology, Optic atrophy, Hypertonia, Scol...	ORPHA:2518
Diprosopus	Abnormality of the nose, External ear malformation, Non-midline cleft lip, Anencephaly, Cleft palate	ORPHA:1681
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Low-set, posteriorly rotated ears, Prominent nasal bridge, Carious teeth, ...	ORPHA:1110
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Micrognathia, Non-midline cleft lip, Cleft palate, Abnormal form of the verteb...	ORPHA:3429
Pitt-Hopkins Syndrome	Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Hiatus hernia, Supernumerary nip...	ORPHA:2896
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Sparse hair, S...	OMIM:181270
Flynn-Aird Syndrome	Alopecia, Carious teeth, Kyphosis, Scoliosis, Progressive sensorineural hearing impairment	ORPHA:2047
Fanconi Anemia, Complementation Group R	Absent thumb, Hydrocephalus, Microphthalmia, Pelvic kidney, Radial dysplasia	OMIM:617244
Coach Syndrome 1	Optic disc pallor, Ataxia, Unilateral renal agenesis, Postaxial hand polydactyly, Multiple small ...	OMIM:216360
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea...	OMIM:607932
Oculoauricular Syndrome	Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,...	OMIM:612109
Bardet-Biedl Syndrome 1	Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Catara...	OMIM:209900
Agnathia-Otocephaly Complex	Wide nose, Micrognathia, Conductive hearing impairment, Aglossia, Cleft palate, Holoprosencephaly...	OMIM:202650
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab...	OMIM:616549
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Micrognathia, High palate, Short philtrum, Microdontia, Sparse hair, Abnormality...	ORPHA:251028
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Hiatus hernia, Recurrent upper respiratory tract i...	OMIM:619769
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy, Astigmatism	OMIM:268060
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Low-set, posteriorly rotated ears, Encephalocele, Micrognathia, Non-midlin...	ORPHA:1908
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Ulnar bo...	OMIM:620076
Fryns Syndrome	Ureteral duplication, Hypospadias, Single transverse palmar crease, Proximal placement of thumb, ...	OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Coloboma, Microphthalmia	OMIM:613153
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared metaphysis, Hip dislocation, ...	OMIM:610758
Incontinentia Pigmenti	Delayed eruption of teeth, Hypoplasia of the fovea, Alopecia, Kyphoscoliosis, Conical tooth, Supe...	OMIM:308300
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Slender nose, Joint dislocation, Abnormal dental enamel morphology, Al...	ORPHA:221016
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Prominent nose, Micrognathia, Synophrys, Protruding ear, Widely spaced tee...	OMIM:612474
Proteus Syndrome	Central heterochromia, Abnormal finger morphology, Renal cyst, Abnormal form of the vertebral bod...	ORPHA:744
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Kniest Dysplasia	Hip contracture, Enlarged joints, Depressed nasal bridge, Conductive hearing impairment, Hip disl...	OMIM:156550
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Cataract, Tapered finger, Small hand, Renal hypoplasia, Hip dysplasia, Micropht...	OMIM:620005
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, High palate, Microdontia...	OMIM:224690
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Sparse scalp hair, Thick eyebrow, Anteverted...	ORPHA:1465
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Renal dysplasia, Duplicated collecting system, Toe syndactyly, Hydroureter, Renal agenesis, Split...	OMIM:129900
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia	ORPHA:1046
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Canavan Disease	Hypertonia, Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy	ORPHA:141
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Talipes equinovarus, Camptodactyly, Blepharophimosis, Cervical C2/C3 vertebral fusion, Downslante...	OMIM:617333
Symphalangism, Proximal, 1A	Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Metacarpophalangeal synostosis, Proximal ...	OMIM:185800
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Abnormality of the ureter, Obesity, Genu valgum, Umbilica...	ORPHA:1035
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia	ORPHA:447896
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Spasticity, Babinski sign, Abnormal pyramidal sign	ORPHA:397951
Silver-Russell Syndrome 1	Syndactyly, Urethral valve, Small for gestational age, Hypospadias, Abnormality of the ureter, Sh...	OMIM:180860
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Lowry-Wood Syndrome	Squared iliac bones, Elbow flexion contracture, Hip dislocation, Multiple joint dislocation, Irre...	OMIM:226960
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of...	ORPHA:1135
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Hyperlordosis, Tremor, Limitation of joint mobility, Nephrotic syndrome, Hypertonia,...	ORPHA:1192
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Cataract, Vesicoureteral reflux, Short foot, Hydronephrosis...	ORPHA:250989
Codas Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Anteverted nares, Depressed nasal bridge, ...	OMIM:600373
Basal Ganglia Calcification, Idiopathic, 1	Urinary incontinence, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykines...	OMIM:213600
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Craniosynostosis, Camptodac...	ORPHA:83
Abetalipoproteinemia	Osteopenia, Impaired vibratory sensation, Abnormality of retinal pigmentation, Ataxia, Kyphoscoli...	ORPHA:14
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia, Kyphoscoliosis	OMIM:619099
Alagille Syndrome	Keratoconus, Hypoplasia of the ulna, Corneal dystrophy, Renal hypoplasia/aplasia, Abnormal pupil ...	ORPHA:52
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Anteverted nares, Thick hair, Delayed closure of the anterior fontane...	ORPHA:357074
Achondrogenesis Type 1B	Micromelia, Short neck, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, ...	ORPHA:93298
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Albers-Schönberg Osteopetrosis	Joint dislocation, Abnormality of the dentition, Carious teeth, Mandibular osteomyelitis, Hydroce...	ORPHA:53
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Alstrom Syndrome	Cone/cone-rod dystrophy, Renal insufficiency, Abnormality of the hand, Accelerated skeletal matur...	OMIM:203800
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, ...	OMIM:609049
Alopecia Antibody Deficiency	Abnormality of dental color, Abnormal eyelash morphology, Sparse hair, Conductive hearing impairm...	ORPHA:1006
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Mixed hearing impairment, Long eyebrows, Cleft upper lip, Widow's peak, Wi...	OMIM:201180
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Anteverted nares, Depressed nasal bridge, Choanal atresia, Craniosynostosis, Hearing abnormality,...	ORPHA:1555
Opitz Gbbb Syndrome	Micrognathia, Vertebral segmentation defect, High palate, Prominent metopic ridge, Anteverted nar...	ORPHA:2745
Glycosylphosphatidylinositol Biosynthesis Defect 15	Osteopenia, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Encephalocele, Hypospadias, P...	ORPHA:2211
Frontonasal Dysplasia 3	Absent eyebrow, Posteriorly rotated ears, Sparse eyelashes, Underdeveloped nasal alae, Wide nasal...	OMIM:613456
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Incontinentia Pigmenti	Delayed eruption of teeth, Alopecia, Abnormal dental morphology, Abnormal dental enamel morpholog...	ORPHA:464
Aceruloplasminemia	Abnormality of retinal pigmentation, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tr...	ORPHA:48818
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Joint laxity, Scapular winging, Hyperlordosis, Pigmentary retinopathy, Distichiasis	OMIM:600462
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Short toe, Hydrocephalus, Cutaneous syndactyly, U...	OMIM:617667
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula	OMIM:619239
Coffin-Siris Syndrome 1	Hydroureter, Sandal gap, Single transverse palmar crease, Hypospadias, Aplasia/Hypoplasia of the ...	OMIM:135900
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Cleft palate, Hypoplasia of teeth, Microtia, Widely spaced teeth, Recurrent otitis media, Microdo...	ORPHA:2728
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration, Ptosis	OMIM:520000
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac...	OMIM:259420
Joubert Syndrome 40	Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Multiple pterygia, Micrognathia	OMIM:601809
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Sprengel anomaly	OMIM:601076
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,...	ORPHA:1001
Charge Syndrome	Anophthalmia, Micrognathia, Hemivertebrae, Holoprosencephaly, Cleft upper lip, Aplasia of the sem...	OMIM:214800
Opitz-Kaveggia Syndrome	Dental crowding, Prominent nose, Micrognathia, Anteriorly placed anus, Sparse hair, Simple ear, L...	OMIM:305450
Say-Barber-Miller Syndrome	Micrognathia, Patellar hypoplasia, Protruding ear, Knee flexion contracture, High palate, Low-set...	ORPHA:3132
Fibrochondrogenesis 2	Thoracic hypoplasia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone,...	OMIM:614524
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Genu recurvatum, Ataxia, Corneal opacity, Palmoplantar kerat...	ORPHA:578
Joubert Syndrome 14	Encephalocele, Morning glory anomaly, Postaxial polydactyly, Meningocele, Optic atrophy, Renal cy...	OMIM:614424
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine, Rod-cone dys...	OMIM:252930
Weyers Ulnar Ray/Oligodactyly Syndrome	Micrognathia, Cleft upper lip, Cleft palate, Proximal radial head dislocation, High palate, Solit...	OMIM:602418
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Supernumerary tooth, Talon c...	ORPHA:353281
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Genitopalatocardiac Syndrome	Micrognathia, Kyphosis, Non-midline cleft lip, Hydrocephalus, Wide nasal bridge, Cleft palate, Do...	ORPHA:2075
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nipple, Hydrocephalus, C...	ORPHA:1812
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat...	OMIM:610915
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Low anterior hairline,...	OMIM:619950
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Corneal opacity, Camptodactyly of finger, Micromelia, Rocke...	ORPHA:99776
Blepharocheilodontic Syndrome 1	Choanal atresia, Cleft upper lip, Conical tooth, Neural tube defect, Hypodontia, Sparse hair, Hig...	OMIM:119580
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Absent thumb, Short thumb, 2-3 toe syndactyly, Micropenis	OMIM:617516
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly of finger, Cra...	ORPHA:284984
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Thin ribs, Slender long bone, Decreased body weight, Vesicoureteral reflux, Hyd...	OMIM:618265
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Angulated humerus, Bowing of the long bones, Multiple rib fractures, Rhizomelia, Recu...	OMIM:616229
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involunt...	ORPHA:240103
22Q11.2 Duplication Syndrome	Wide nose, Micrognathia, Depressed nasal ridge, Cleft palate, Anterior creases of earlobe, Scolio...	ORPHA:1727
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly, Iris coloboma, Retinal coloboma, Chorioretinal coloboma	ORPHA:2921
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Joubert Syndrome 23	Coloboma, Polydactyly	OMIM:616490
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ...	OMIM:166210
Leigh Syndrome	Ataxia, Optic atrophy, Pigmentary retinopathy, Dystonia, Spasticity, Ptosis	OMIM:256000
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Hypospadias, Postaxial polydactyly, Tremor, Poor coordination, Abnormality of pain sensation	ORPHA:544254
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Death in infancy, Proteinuria, Ataxia, Almond-shaped palpebral fissure, Kyphosis, Tre...	OMIM:212065
Penoscrotal Transposition	Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Patellar apla...	ORPHA:2842
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o...	OMIM:600059
Mend Syndrome	Sacral dimple, Cataract, Overlapping toe, Broad hallux, Long fingers, Kyphosis, 2-3 toe syndactyl...	OMIM:300960
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Sandal gap, Hypospadias, Tremor, Kyphosis, Small hand, Gait ataxia, Short foot, Mic...	OMIM:300354
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology, Hypospadias	ORPHA:276422
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Posteriorly rotated ears, Depressed nasal bridge, Camptodactyly of finger,...	ORPHA:994
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Femoral bowing, Th...	OMIM:617952
Treacher Collins Syndrome 1	Sparse lower eyelashes, Cleft soft palate, Choanal atresia, Micrognathia, Bilateral microphthalmo...	OMIM:154500
Neurofibromatosis Type 1	Abnormal eyelid morphology, Chorioretinal coloboma, Heterochromia iridis, Genu varum, Ataxia, Abn...	ORPHA:636
Odontomicronychial Dysplasia	Premature eruption of permanent teeth, Short nail	OMIM:601319
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,...	ORPHA:464329
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Underdeveloped superior crus of antihelix,...	ORPHA:369950
Acromesomelic Dysplasia 4	Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short metatarsal, Short phalanx o...	OMIM:619636
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,...	OMIM:610682
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Joint laxity, Prominent metopic ridge, Arachnodactyly, Postaxial polydactyly, Tapered finger, Gen...	OMIM:619721
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s...	ORPHA:2363
Phakomatosis Pigmentokeratotica	Spina bifida, Melanocytic nevus, Unilateral renal hypoplasia, Coloboma, Renal transitional cell c...	ORPHA:2874
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Elevated uri...	OMIM:618049
Cerebrocostomandibular Syndrome	Anal stenosis, Congenital hip dislocation, Posteriorly rotated ears, Cleft soft palate, Micrognat...	OMIM:117650
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Dental crowding, Intestinal malrotation, Narrow nose, Carious teet...	OMIM:617602
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Renal cyst, Upslanted palpebral fissure, Epiphyseal stippling, Epicanthus inversus	OMIM:614862
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Epiphyseal dysplasia, Congenital hip dislocation, Cataract, Optic atrophy, Renal hypoplasia, Neph...	OMIM:617913
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Epicanthus, Micromelia, Pos...	OMIM:211750
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora...	ORPHA:89936
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Telecanthus, Tarsal synostosis, Duplication of thumb phalanx, Short...	ORPHA:2756
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Chorioretinal coloboma, Vesicoureteral reflux, 2-4 finger ...	OMIM:107480
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal wi...	OMIM:271640
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Impaired temperature sensation, Areflexia of upper limbs, Impaired pain sensation...	OMIM:619574
Spondylo-Ocular Syndrome	Retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, Thoracic kyphosis, Microphthalmia, ...	ORPHA:85194
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Posteriorly rotated ears, Camptodactyly of finger, Prominent nose, Long nose, Micrognathia, Bulbo...	ORPHA:3047
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, Hamartom...	OMIM:158350
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Sparse eyelashes, Underdeveloped nasal alae, Carious teeth, Micrognathia, Macro...	OMIM:613026
Joubert Syndrome 1	Optic disc pallor, Epicanthus, Hemifacial spasm, Ataxia, Retinal dystrophy, Highly arched eyebrow...	OMIM:213300
Treacher Collins Syndrome 3	Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair...	OMIM:248390
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Micromelia, Short neck, Renal hypoplasia/aplasia, H...	ORPHA:3015
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Neonatal epiphyseal stippling, Hip dislocation, Anterior rib punctate calcifications, U...	ORPHA:35173
Contractures-Developmental Delay-Pierre Robin Syndrome	Thoracolumbar scoliosis, Underdeveloped nasal alae, Micrognathia, High, narrow palate, Cleft pala...	ORPHA:436003
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Sparse axillary hair, Sparse pubic hair, Scarrin...	ORPHA:251393
Rhizomelic Chondrodysplasia Punctata, Type 2	Anteverted nares, Depressed nasal bridge, Optic nerve hypoplasia, Micrognathia, Submucous cleft h...	OMIM:222765
Rubinstein-Taybi Syndrome	Highly arched eyebrow, Abnormality of the dentition, Carious teeth, Micrognathia, Wide nasal brid...	ORPHA:783
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
17Q24.2 Microdeletion Syndrome	Otosclerosis, Thin upper lip vermilion, Micrognathia, Abnormality of the wrist, Synophrys, Wide n...	ORPHA:529962
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd...	ORPHA:79403
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Prominent nasal bridge, Highly arched eyebrow, Hypoplasia of the maxilla, ...	OMIM:609460
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus...	ORPHA:3186
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Uplifted earlobe, Abnormality of the dentition, Thick lower lip vermilion, Umbilical...	ORPHA:261652
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Sandal gap, Macrodactyly, Renal hypoplasia, Spinal dysraphism, Nephroblastoma	OMIM:612918
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Warburg Micro Syndrome 2	Cataract, Overlapping toe, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia, Mi...	OMIM:614225
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enlargement of the ankles, Enlargement of the wrists, Widely patent fo...	OMIM:264700
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme...	OMIM:611584
Peroxisome Biogenesis Disorder 5B	Joint laxity, Ataxia, Retinal dystrophy, Tremor, Dysmetria, Death in childhood, Oculomotor apraxi...	OMIM:614867
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Joubert Syndrome With Hepatic Defect	Renal insufficiency, Multicystic kidney dysplasia, Ataxia, Highly arched eyebrow, Tremor, Postaxi...	ORPHA:1454
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Narrow mouth, Cleft palate, High ...	OMIM:156610
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Craniosynostosis, Abnormal rib morphology...	ORPHA:436
46,Xy Sex Reversal 4	Distal symphalangism, Anteverted nares, Prominent nose, Micrognathia, Sensorineural hearing impai...	OMIM:154230
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Scoliosis, Eyelid myoclonus	OMIM:616421
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Posteriorly rotated ears, Micrognathia, Hydrocephalus, Hirsutism, Wide nasal bridg...	ORPHA:1865
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co...	ORPHA:249
17Q12 Microduplication Syndrome	Microphthalmia, Finger syndactyly, Toe syndactyly	ORPHA:261272
Blomstrand Lethal Chondrodysplasia	Natal tooth, Anteverted nares, Depressed nasal bridge, Protruding tongue, Micrognathia, Platyspon...	ORPHA:50945
Neuromuscular Oculoauditory Syndrome	Epicanthus, Chorioretinal lacunae, Retinal pigment epithelial mottling, Knee flexion contracture,...	OMIM:618733
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Cataract, Ataxia, Corneal opacity, Abnormality of the kidney, Optic atro...	ORPHA:93400
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Carious teeth, Depressed nasal ridge, Low anterior hairline...	ORPHA:742
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Retinal pigment epithelial mottling, Rickets, Stage 5 chronic kidney disease, Cornea...	OMIM:219900
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Spasticity, Opisthotonus, Increased susceptibility to fr...	ORPHA:216866
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Sh...	ORPHA:958
Renpenning Syndrome 1	Cataract, Hypospadias, Phimosis, Pectus excavatum, Renal hypoplasia, Coloboma, Camptodactyly, Cli...	OMIM:309500
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Myopathy With Extrapyramidal Signs	Joint laxity, Epicanthus, Ataxia, Clonus, Short neck, Tremor, Chorea, Optic atrophy, Clumsiness, ...	OMIM:615673
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Ptosis, Epicanthus, Cataract, Renal agenesis, ...	OMIM:220500
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Short neck, Tremor, Kyphosis, Synophrys, Small hand, Short foot, Long...	ORPHA:238750
Vacterl/Vater Association	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Abnormal inter...	ORPHA:887
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Death in infancy, Generalized hyperpigmentation, Renal hypop...	ORPHA:2481
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney	OMIM:266810
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal pterygium, Intercrura...	OMIM:119500
Congenital Toxoplasmosis	Microphthalmia, Abnormality of retinal pigmentation, Intrauterine growth retardation	ORPHA:858
Spinocerebellar Ataxia 48	Ataxia, Urinary incontinence, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia...	OMIM:618093
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Dental malocclusion, Elbow ...	ORPHA:2920
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Coloboma, Hip dysplasia, Camptodactyly, Microphthalmia, Joint...	OMIM:611961
Behr Syndrome	Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Optic atrophy, Dysmetria, Adductor lo...	OMIM:210000
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
Bornholm Eye Disease	Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia	OMIM:300843
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too...	OMIM:150400
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ...	OMIM:615145
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Ataxia, Optic atrophy, Truncal ataxia, Renal tubular dysfunction,...	OMIM:220110
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Optic disc pallor, Epicanthus, Tremor, Hypoesthesia, Retrobulbar op...	OMIM:619737
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Hydroureter, Camptodactyly of finger, Abnormality of the hand, A...	ORPHA:2273
Congenital Disorder Of Glycosylation, Type Ie	Ataxia, Ankle flexion contracture, Tremor, Small hand, Upper limb undergrowth, Abnormal macular m...	OMIM:608799
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Short neck, Knee flexion contracture, Femoral b...	OMIM:601559
Proximal 16P11.2 Microduplication Syndrome	Arachnodactyly, Sparse eyelashes, Sparse eyebrow, Tremor, Hemivertebrae, Scoliosis, Micropenis	ORPHA:370079
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, B...	OMIM:221900
Meier-Gorlin Syndrome 3	Microretrognathia, Posteriorly rotated ears, Prominent nasal bridge, Sparse axillary hair, Microg...	OMIM:613803
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Optic disc coloboma, Vesicoureteral reflux, Renal cyst, Renal hypop...	OMIM:618454
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Short philtrum, Widely spaced teeth, Conductive hearing impairment, Sparse hair...	OMIM:280000
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Scoliosis, Hemiatrophy	ORPHA:306669
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Alopecia totalis, Alopecia universalis	OMIM:609638
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph...	ORPHA:209956
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Synophrys, Bone pain, Pectus carinatum, Decreased skull ossification, Iri...	ORPHA:955
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Patchy reduction of bone mineral density...	ORPHA:221120
Ablepharon Macrostomia Syndrome	Absent eyebrow, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Underdeveloped...	ORPHA:920
Carey-Fineman-Ziter Syndrome	Laryngeal stenosis, Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robi...	ORPHA:1358
Trichohepatoenteric Syndrome 1	Curly hair, Villous atrophy, Wide nose, Anteverted nares, Brittle hair, Narrow mouth, Large place...	OMIM:222470
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Ataxia, Spastic tetraparesis, Optic atrophy, Abnormal pyramidal s...	ORPHA:436271
Joubert Syndrome With Ocular Defect	Ataxia, Retinal dystrophy, Highly arched eyebrow, Tremor, Hand polydactyly, Retinal coloboma, Foo...	ORPHA:220493
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Ptosis, Scapular winging, Pain insensitivity, Sandal gap, Single transverse palmar crease, Epican...	OMIM:617061
Triploidy	Low-set, posteriorly rotated ears, Intestinal malrotation, Micrognathia, Non-midline cleft lip, H...	ORPHA:3376
Mesomelia-Synostoses Syndrome	Microretrognathia, Micrognathia, Carpometacarpal synostosis, Partial fusion of proximal row of ca...	OMIM:600383
Osteogenesis Imperfecta, Type I	Otosclerosis, Biconcave flattened vertebrae, Wormian bones, Dentinogenesis imperfecta, Hearing im...	OMIM:166200
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Irregular vertebral endplates, Shoulder dislocat...	OMIM:143095
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li...	OMIM:147750
Tarp Syndrome	Finger syndactyly, Thick eyebrow, Single transverse palmar crease, Rocker bottom foot, Postaxial ...	ORPHA:2886
Chromosome 17Q12 Deletion Syndrome	Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect...	OMIM:614527
Diamond-Blackfan Anemia 1	11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala...	OMIM:105650
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Ureteral stenosis, Single transverse palmar crease, Rock...	OMIM:272950
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia, Depressed nasal bridge	OMIM:612462
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Sp...	OMIM:618060
Limb-Mammary Syndrome	Alopecia, Absent nipple, Cleft hard palate, Cleft lip, Sparse eyebrow, Cleft palate, Protruding e...	ORPHA:69085
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Poor motor coordination, Parkinsonism, Clumsiness, Poor fine motor coordinatio...	ORPHA:79264
Lelis Syndrome	Mandibular prognathia, Carious teeth, Yellow nails, Absent lower eyelashes, Furrowed tongue, Hypo...	ORPHA:140936
Distal Duplication 17Q	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Depressed nasal bridge, Micrognathia...	ORPHA:3379
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Absent eyelashes, Cleft lip, C...	ORPHA:2890
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral at...	OMIM:208540
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Blepharophimosis, Renal cyst, Hypertonia, Chorioretinal coloboma, C...	ORPHA:2031
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T...	ORPHA:228308
White-Kernohan Syndrome	Hydroureter, Obesity, Horseshoe kidney, Hip dysplasia, Metopic synostosis, Hydronephrosis	OMIM:619426
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Narrow chest, Vesicoureteral reflux, Abnormality of the wris...	ORPHA:95699
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Thin ribs	OMIM:614833
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Tibial bowing, Spina bifida occulta, Long hallux, Multicystic kidney dysplasia, Large hands, Abno...	ORPHA:500095
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Thickened ribs, Corneal opacity, Camptodactyly ...	ORPHA:217085
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Microphthalmia, Cataract, Optic nerve hypoplasia	OMIM:615181
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint dislocation, Congenital hip dislocation, Microcornea, Joint laxity, Keratoconus...	OMIM:225400
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Hypospadias, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinodactyl...	ORPHA:397590
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Ataxia, Tremor, Kyphosis, Limitation of joint mobility, Osteopo...	OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Retinal dystrophy, Developmental cataract	OMIM:613155
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Stiff neck, Urinary incontinence, Areflexia of upper limbs, Dysesthe...	ORPHA:268882
Restrictive Dermopathy 1	Natal tooth, Depressed nasal bridge, Choanal atresia, Narrow nasal ridge, Micrognathia, Kyphoscol...	OMIM:275210
Neu-Laxova Syndrome 2	Spina bifida, Micrognathia, Depressed nasal ridge, Cleft palate, High palate, Low-set ears, Scoli...	OMIM:616038
Familial Partial Lipodystrophy, Dunnigan Type	Advanced eruption of teeth, Generalized hirsutism	ORPHA:2348
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu...	ORPHA:1488
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Hydrocephalus, Wide nasal bridg...	OMIM:612651
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Enamel hypoplasia, Depressed nasal bridge	OMIM:103580
Familial Adenomatous Polyposis 1	Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g...	OMIM:175100
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:254881
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal...	OMIM:613159
Wrinkly Skin Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle...	ORPHA:2834
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Hypospadias, Corneal opacity, Ankle flexion contracture, T...	ORPHA:464311
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Thickened ribs, Corneal opacity, Camptodactyly ...	ORPHA:217093
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Cataract, Micromelia, Urethrovaginal fistula, Preaxial hand polydactyly, Abn...	ORPHA:93271
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Cataract, Abnormal pyramidal sign, Renal cyst, Opisthotonus, Nephrocalcinosi...	ORPHA:445038
Robinow Syndrome, Autosomal Dominant 3	Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft lip, Kyphosis, Dental malocclusion,...	OMIM:616894
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Prominent nasal bridge, Cleft soft palate, Underdeveloped nasal alae, Broad nasal tip, Pyloric st...	ORPHA:268261
Achondrogenesis, Type Ii	Barrel-shaped chest, Broad long bones, Abnormally large globe, Short tubular bones of the hand, S...	OMIM:200610
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Epicanthus, Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Sin...	OMIM:300998
Congenital Disorder Of Glycosylation, Type It	Micrognathia, Pierre-Robin sequence, Cleft palate, Recurrent otitis media, Bifid uvula	OMIM:614921
Multiple Benign Circumferential Skin Creases On Limbs	Low-set, posteriorly rotated ears, Micrognathia, External ear malformation, Cleft palate, Long ph...	ORPHA:2505
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping toe, Single transverse palmar crease, Hypospadias, Deviation of th...	ORPHA:464738
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Hearing impairment, Micrognathia...	OMIM:301043
Kilquist Syndrome	Mandibular prognathia, Intestinal malrotation, Choanal atresia, Midgut malrotation, Xerostomia, H...	OMIM:619080
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands	OMIM:300291
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Tapered finger, Sparse eyebrow, Chorea, Hemiparesis, Long palpebral...	OMIM:618829
Gm1 Gangliosidosis	Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Cherry red spot of the macul...	ORPHA:354
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Retrognathia, Depressed nasal bridge, Cleft palate	OMIM:165590
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Scapular winging, Cataract, Ataxia, Impaired distal proprioception, Hypoesthesia, Retinal pigment...	OMIM:607459
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thick eyebrow, Telecanthus, Symblepharon, Short neck, Delayed skeletal maturation, Sm...	ORPHA:488434
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Fla...	OMIM:612852
Tetrasomy 9P	Joint dislocation, Median cleft lip and palate, Dental crowding, Abnormal dental enamel morpholog...	ORPHA:3310
Lethal Kniest-Like Dysplasia	Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix, Cleft palate, H...	ORPHA:2347
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Microcornea, Eyelid coloboma, Long hallux, Iri...	ORPHA:2308
3Q29 Microduplication Syndrome	Craniosynostosis, Abnormality of the dentition, Deep philtrum, Wide nasal bridge, Cleft palate, E...	ORPHA:251038
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Lacrimal duct st...	ORPHA:73246
Chops Syndrome	Cataract, Synophrys, Optic atrophy, Vesicoureteral reflux, Horseshoe kidney, Long eyelashes, Trac...	OMIM:616368
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Otitis media, Conductive hearing impairment, Highly a...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Otitis media, Conductive hearing impairment, Highly a...	ORPHA:353277
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum,...	ORPHA:583
Joubert Syndrome 17	Ataxia, Abnormal retinal morphology, Postaxial polydactyly, Abnormal renal morphology, Preaxial p...	OMIM:614615
Larsen Syndrome	Depressed nasal bridge, Short nail, Large joint dislocations, Craniosynostosis, Accessory carpal ...	ORPHA:503
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Optic ...	OMIM:312080
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Joint stiffness, Heparan sulfate excretion in urine, Synophrys, Ovoid thoracolumb...	OMIM:252900
Opitz Gbbb Syndrome	Thin upper lip vermilion, Abnormal nasopharynx morphology, Anteverted nares, Posteriorly rotated ...	OMIM:300000
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Optic disc pallor, Multiple joint contractures, Arachnodactyly, Toe syndactyly, Hy...	ORPHA:464306
Cerebrofacioarticular Syndrome	Syndactyly, Hypospadias, Renal hypoplasia, Talipes equinovarus, Camptodactyly, Caudal appendage	ORPHA:314679
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal rib morphology, ...	ORPHA:3035
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Wide nose, Anophthalmia, Anteverted nares, Abnormal eyelash morphology, Abnormal ha...	ORPHA:2526
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Cleft lip,...	OMIM:603457
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Anteverted nares, Intestinal malrotation, D...	OMIM:244450
Cystinosis, Nephropathic	Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy...	OMIM:219800
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Depressed nasal bridge, Hypoplasia of the maxilla, Microspherophakia, Narro...	OMIM:277600
Sandestig-Stefanova Syndrome	Rocker bottom foot, Developmental cataract, Intrauterine growth retardation, Camptodactyly, Micro...	OMIM:618804
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Asymmetry ...	OMIM:619124
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Smith-Lemli-Opitz Syndrome	Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, Micropenis, Pe...	OMIM:270400
Geroderma Osteodysplasticum	Mandibular prognathia, Beaking of vertebral bodies, Kyphoscoliosis, Hypoplasia of the maxilla, Ir...	OMIM:231070
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Choanal atresia, Lip pit, Micrognathia, Non-midline cleft lip, Fibrous ...	ORPHA:1300
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Micrognathia, Esophageal atresia, Deep philtrum, Overfolded he...	OMIM:610536
Pyruvate Dehydrogenase Deficiency	Epicanthus, Cerebral palsy, Ataxia, Pectus excavatum, Tremor, Osteolytic defects of the middle ph...	ORPHA:765
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Gene...	ORPHA:536471
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Hyperlordosis, Tr...	OMIM:128100
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Intestinal malrot...	ORPHA:457193
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Renal hypoplasia/apl...	ORPHA:2167
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Exaggerated cupid's bow, Posteriorly rotated ears, Spina bifida, Broad nasal tip, Cupped ear, Wid...	OMIM:619480
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Sandal gap, Optic disc pallor	OMIM:300887
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia mo...	ORPHA:666
Warburg Micro Syndrome 3	Cataract, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber, Clinodact...	OMIM:614222
Cranioectodermal Dysplasia 2	Unilateral ptosis, Short neck, Renal cyst, Narrow chest, Joint laxity, Syndactyly, Rhizomelia, Sp...	OMIM:613610
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Cleft palate, Micrognathia	OMIM:614120
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Occipital encephalocele, Cataract, Optic nerve hypoplasia, Optic atrophy, Abn...	ORPHA:370959
Adams-Oliver Syndrome 2	Single transverse palmar crease, Optic atrophy, Developmental cataract, Absent distal phalanges, ...	OMIM:614219
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Pterygium, Absent eyebrow, Alopecia, Cleft upper lip, Ab...	OMIM:263650
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Cleft soft palate, Highly arched eyebrow, Micrognathia, Wide nasal bridge, Micr...	ORPHA:2282
Joubert Syndrome 2	Encephalocele, Renal insufficiency, Retinal dystrophy, Postaxial hand polydactyly, Optic disc col...	OMIM:608091
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Cree Mental Retardation Syndrome	Posteriorly rotated ears, Cleft soft palate, Low-set ears, Micrognathia	OMIM:606851
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial h...	ORPHA:1120
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Baraitser-Winter Syndrome 1	Duplication of phalanx of hallux, Chorioretinal coloboma, Microphthalmia, Micropenis, Iris coloboma	OMIM:243310
Retinitis Pigmentosa 74	Optic disc pallor, Abnormal renal morphology, Pigmentary retinopathy, Polydactyly, Posterior pola...	OMIM:616562
Usher Syndrome Type 2	Abnormality of dental color, Abnormal dental enamel morphology, Carious teeth, Sensorineural hear...	ORPHA:231178
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P...	OMIM:114290
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Optic atrophy, Abnormality of skin pigmentation, Coloboma, Microphthalmia	OMIM:612379
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Enlargement of the wr...	ORPHA:289157
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Joint stiffness, Heparan sulfate excretion in urine, Synophrys, Ovoid thoracolumb...	OMIM:252920
Legius Syndrome	Inguinal freckling, Cataract, Dystonia, Axillary freckling, Nephrolithiasis, Multiple cafe-au-lai...	ORPHA:137605
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Micrognathia, Patellar aplasia, Cleft palate, Patellar hypoplasia, High palate...	OMIM:147891
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Scler...	ORPHA:284160
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Optic atrophy, Hypoplasi...	OMIM:251300
Amish Lethal Microcephaly	Cleft soft palate, Spina bifida, Micrognathia	ORPHA:99742
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Coloboma, Microphthalmia, Retinal degeneration	OMIM:615249
Distal Duplication 5Q	Prominent nasal bridge, Craniosynostosis, Micrognathia, Carious teeth, Narrow mouth, Thin vermili...	ORPHA:96097
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Alveolar Echinococcosis	Low back pain, Abnormal pelvis bone morphology, Ataxia, Pancreatic cysts, Abnormal bladder morpho...	ORPHA:284
Rauch-Steindl Syndrome	Clinodactyly of the 5th finger, Intrauterine growth retardation, Hyperechogenic kidneys, Bilatera...	OMIM:619695
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh...	ORPHA:2714
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormali...	ORPHA:659
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Pectus excavatum, Unilateral microphthalmos, Cafe-au-lait spot, Iris coloboma, Adduc...	OMIM:618874
Platyspondylic Dysplasia, Torrance Type	Depressed nasal bridge, Abnormal carpal morphology, Cleft palate, Platyspondyly, Low-set ears, Ma...	ORPHA:85166
Cockayne Syndrome A	Hip contracture, Renal insufficiency, Cataract, Proteinuria, Ataxia, Retinal atrophy, Tremor, Kyp...	OMIM:216400
Neuroocular Syndrome	Brittle hair, Genu recurvatum, Synophrys, Lens coloboma, Downturned corners of mouth, Widely spac...	OMIM:619539
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, White eyelashes, Aganglionic megacolon, White eyebrow, Short...	OMIM:609136
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the fingers, Epiphyse...	OMIM:619135
Joubert Syndrome With Renal Defect	Renal insufficiency, Ataxia, Highly arched eyebrow, Tremor, Hand polydactyly, Scoliosis, Oculomot...	ORPHA:220497
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Gardner Syndrome	Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo...	ORPHA:79665
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla...	OMIM:616294
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Cataract, Kyphoscoliosis, Hand muscle weakness, Areflexi...	ORPHA:99956
Orofaciodigital Syndrome Type 1	Tremor, Reduced bone mineral density, Clinodactyly of the 5th finger, Finger syndactyly, Multicys...	ORPHA:2750
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Retinal detachment, Leukocoria, ...	ORPHA:1556
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Synophrys, Pectus carinatum, Astigmatism, Lumbar scoliosi...	OMIM:617796
Recessive Dystrophic Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Esophageal stricture, Nail dystrophy, Stenosis of the exter...	ORPHA:79409
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxi...	OMIM:617145
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Beckwith-Wiedemann Syndrome	Ureteral duplication, Otosclerosis, Prominent metopic ridge, Large for gestational age, Wide ante...	ORPHA:116
Hypophosphatasia, Adult	Arthropathy, Premature loss of permanent teeth, Premature loss of primary teeth, Carious teeth, C...	OMIM:146300
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Microdontia, Advanced eruption of teeth, H...	OMIM:615873
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth, Mixed hearing impairment, Scoliosis, Platyspondyly	OMIM:126550
Specc1L-Related Hypertelorism Syndrome	Prominent nasal bridge, Highly arched eyebrow, Widow's peak, Wide nasal bridge, Orofacial cleft, ...	ORPHA:1519
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl...	ORPHA:158684
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Abnormality of the palmar creases, Coloboma, Peters anomaly	OMIM:618652
Monosomy 9P	Micrognathia, Synophrys, Anotia, High palate, Anteverted nares, Depressed nasal bridge, Highly ar...	ORPHA:261112
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Abnormal dental enamel morphology, Kyphoscoliosis, Cleft upper lip, Trichiasis, C...	OMIM:601701
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Corneal opacity, Aplasia/Hypoplasia of the distal ...	ORPHA:1647
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, ...	OMIM:618021
Jacobsen Syndrome	Hypospadias, Missing ribs, Pectus excavatum, Optic atrophy, Microcornea, Macular hypoplasia, Chor...	OMIM:147791
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Choanal ste...	OMIM:620183
Poikiloderma With Neutropenia	Depressed nasal bridge, Underdeveloped nasal alae, Carious teeth, Micrognathia, Sparse eyebrow, L...	OMIM:604173
Alpha-Mannosidosis, Infantile Form	Osteopenia, Thickened ribs, Short neck, Oligosacchariduria, Pectus carinatum, Cortical thickening...	ORPHA:309282
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, ...	OMIM:208920
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Hypermanganesemia With Dystonia 2	Generalized dystonia, Limb joint contracture, Parkinsonism, Dystonia, Tremor, Achilles tendon con...	OMIM:617013
Mungan Syndrome	Vesicoureteral reflux, Renal hypoplasia	OMIM:611376
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Cataract, Renal agenesis, Preaxial hand polydactyly, Nasolacrimal d...	ORPHA:1297
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Kyphosis, Knee flexion contracture, Inflammation of the large intestine, Rectovagin...	OMIM:619708
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Carious teeth, Nail dystrophy, Sparse hair, Premature loss of teeth, Oral leukoplakia	OMIM:616353
Semilobar Holoprosencephaly	Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid...	ORPHA:220386
Alobar Holoprosencephaly	Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid...	ORPHA:93924
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Depressed nasal bridge, Hypoplasia of the maxilla, Microspherophakia, Elbow...	OMIM:608328
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Tremor, Synophrys, Wide penis, Hypoplastic vertebral bodies, H...	ORPHA:3455
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Short neck, Knee flexion contracture, Abnormal calcification of t...	OMIM:271665
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Pectus excavatum, Hand polydactyly, Foot polydactyly, Shor...	OMIM:258860
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Urethral atresia, Hand ...	OMIM:314390
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Pectus excavatum, Hip dislocation, Stag...	OMIM:617729
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Absent eyelashes, Cupped ear, Xerostomia, Microtia, Widely spaced teeth, Enamel hy...	OMIM:620193
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, White eyelashes,...	ORPHA:79432
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco...	ORPHA:1946
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling, Spasticity, Death in childhood	OMIM:619517
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol...	OMIM:142900
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Ocular albinism, Aplasia ...	ORPHA:1352
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Frontal balding, Synophrys, Cleft palate, Protruding ear, Short philtrum, Facial h...	ORPHA:247768
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Anteverted nares, Kyphoscoliosis, Broad nasal tip, Hypopl...	OMIM:617402
Tuberous Sclerosis Complex	Renal insufficiency, Retinal astrocytic hamartoma, Abnormality of the kidney, Retinal hamartoma, ...	ORPHA:805
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Underdeveloped antitragus, Abnormality of the dentition, Abnormal anti...	ORPHA:2036
Gorham-Stout Disease	Abnormality of the temporomandibular joint, Abnormal facial skeleton morphology, Abnormal ethmoid...	ORPHA:73
Gm1-Gangliosidosis, Type I	Death in infancy, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bo...	OMIM:230500
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Tremor, Optic atrophy, Osteoporosis, Dysmetria, Gait ataxia, Oculomotor apraxia, Spas...	ORPHA:529665
Degcags Syndrome	Bilateral renal hypoplasia, Abnormality of skin pigmentation, Premature graying of hair, Hypopigm...	OMIM:619488
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch...	OMIM:250220
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Absent thumb, Absent radius, Short thumb, Ectopic k...	OMIM:227650
Baraitser-Winter Syndrome 2	Microphthalmia, Coloboma	OMIM:614583
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Narrow mouth, Absent ...	OMIM:601353
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Micrognathia, Hydrocephalus, Advanced ossification of carpal bones, Cleft palate, ...	OMIM:224400
Holoprosencephaly-Postaxial Polydactyly Syndrome	Low-set, posteriorly rotated ears, Encephalocele, Intestinal malrotation, Hypoplasia of the prema...	ORPHA:2166
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Broad palm, Polycystic ovaries, Pigmentary retinopathy, Rod-cone dystrophy, Subcapsular cataract	OMIM:268020
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Choanal atresia, Abnormality of the dentition, Micrognathia, Sensorineural...	OMIM:151050
Xeroderma Pigmentosum, Complementation Group F	Ataxia, Tremor, Flexion contracture, Numerous pigmented freckles, Astigmatism, Scoliosis, Freckling	OMIM:278760
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Anteriorly placed anus, Microphtha...	OMIM:248450
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Anterior ...	OMIM:211350
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Uri...	OMIM:616795
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Hydrocephalus, Absent ha...	ORPHA:974
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Congenital Disorder Of Glycosylation, Type Iiw	Wide nose, Underdeveloped nasal alae, Micrognathia, Supernumerary tooth, Concave nasal ridge, Low...	OMIM:619525
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Abnormal dental enamel morphology, Alopecia totalis, Abnormality of th...	ORPHA:221008
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla, S...	ORPHA:3044
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rocker bottom foot, Single transverse palmar crease, Postaxial poly...	OMIM:617527
Rhombencephalosynapsis	Finger syndactyly, Septo-optic dysplasia, Hydrocephalus, Abnormal renal morphology, Polydactyly, ...	ORPHA:59315
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Lacrimal duct stenosis, Down-sloping shoulders, Tapered finger, Periorbital der...	OMIM:615560
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Cranioectodermal Dysplasia 3	Joint laxity, Telecanthus, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Postaxial polydacty...	OMIM:614099
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Epicanthus, Hypospadias, Cataract, Nephroblastoma, Short neck, Rena...	OMIM:257300
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Absent thumb, Absent radius, Short thumb, Ectopic k...	OMIM:600901
Mend Syndrome	Prominent nasal bridge, Abnormal auditory evoked potentials, Asymmetry of the mouth, Micrognathia...	ORPHA:401973
Loeys-Dietz Syndrome 6	Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration	OMIM:619656
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Hydrocephalus...	OMIM:602398
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Ataxia, Retinal telangiectasia, Metaphyseal sclerosis, Trem...	OMIM:612199
Cystathioninuria	Nephrolithiasis, Cystathioninuria, Tremor, Talipes equinovarus	ORPHA:212
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Pectus excavatum, Umbilical hernia, Cubitus valgus, Urete...	OMIM:104350
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Alopecia, Dental crowding, Narrow nasal ridge, Micrognathia, Elbow flexion con...	OMIM:248370
Pelger-Huet Anomaly	Kyphosis, Upper limb undergrowth, Lower limb hypertonia, Polydactyly, Short 3rd metacarpal, Short...	OMIM:169400
Skin Creases, Congenital Symmetric Circumferential, 2	Hypospadias, Tapered finger, Pectus excavatum, Long fingers, 2-3 toe syndactyly, Microcornea, Ure...	OMIM:616734
Faciocardiomelic Syndrome	Osteopenia, Dysharmonic bone age, Telecanthus, Cuboid-shaped vertebral bodies, Slender long bone,...	OMIM:612731
Restrictive Dermopathy	Natal tooth, Aplasia/Hypoplasia involving the nose, Thoracic kyphoscoliosis, Choanal atresia, Cam...	ORPHA:1662
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contracture, Long palpebral fis...	OMIM:603387
Joubert Syndrome	Ataxia, Highly arched eyebrow, Tremor, Abnormal form of the vertebral bodies, Hand polydactyly, F...	ORPHA:475
Cerebrocostomandibular Syndrome	Hydranencephaly, Spina bifida, Micrognathia, Kyphosis, Myelomeningocele, Meningocele, Cleft palat...	ORPHA:1393
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Retinitis Pigmentosa 89	Hyperautofluorescent retinal lesion, Rod-cone dystrophy, Retinal thinning, Postaxial polydactyly	OMIM:618955
Cdags Syndrome	Sparse scalp hair, Sparse eyelashes, Delayed cranial suture closure, Sagittal craniosynostosis, R...	OMIM:603116
Frontofacionasal Dysplasia	Encephalocele, Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris colo...	ORPHA:1791
Crane-Heise Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Depressed nasal bridge, Antever...	ORPHA:1512
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Premature loss of primary teeth, Craniosynostosis, Abnormality of hair...	ORPHA:667
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Pectus excavatum, S...	ORPHA:2463
Ramos-Arroyo Syndrome	Sparse scalp hair, Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Carious teeth...	ORPHA:1051
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Alveolar ridge overgrowth, Gingival overgrowth, Widely spaced teeth, S...	OMIM:301072
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Ataxia, Wide anterior fontanel, Flexion contracture, Optic atrophy, Renal corti...	OMIM:609180
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Posterior ri...	OMIM:265380
Atypical Werner Syndrome	Sclerosis of hand bone, Reduced bone mineral density, Finger clinodactyly, Premature graying of h...	ORPHA:79474
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis, Retinal coloboma, Iris coloboma	ORPHA:2328
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Urinary incontinence, Hyperpigmentation of the skin, Parkinsonism, Tremor...	OMIM:234200
Cornelia De Lange Syndrome	Micrognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, Widely spaced teeth,...	ORPHA:199
Kearns-Sayre Syndrome	Ataxia, Renal tubular acidosis, Pigmentary retinopathy, Renal Fanconi syndrome, Ptosis	OMIM:530000
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Unilateral ...	ORPHA:457284
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing impairment, Narrow naris...	OMIM:122880
Hutchinson-Gilford Progeria Syndrome	Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, High palate, Conductive he...	ORPHA:740
Congenital Fibrinogen Deficiency	Microphthalmia, Clubbing of fingers, Micropenis, Developmental cataract	ORPHA:335
Meester-Loeys Syndrome	Joint dislocation, Gingival overgrowth, Umbilical hernia, High palate, Malar flattening, Bifid uv...	OMIM:300989
Baller-Gerold Syndrome	Narrow nasal bridge, Prominent nasal bridge, Malabsorption, Micrognathia, Aplasia/Hypoplasia of t...	ORPHA:1225
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Bladder Exstrophy	Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V...	ORPHA:93930
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Wide nose, Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermilion, Me...	ORPHA:314647
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Prominent nasal...	ORPHA:2673
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Micrognathia, Long nose, Synophrys, Cleft palate, Protruding ear, High palate, Low-set ears, Narr...	OMIM:301091
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Large for gestational age, Bladder tr...	OMIM:614080
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Craniosynostosis, Malabsorption, Abnormal sacroiliac joint morphology,...	ORPHA:289176
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Hydrocephalus, Cleft palate, Anotia, Microtia	OMIM:243440
Spondyloenchondrodysplasia	Delayed eruption of teeth, Kyphosis, Dental malocclusion, Arthritis, Platyspondyly, Juvenile rheu...	ORPHA:1855
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Optic atrophy, Renal hypoplasia, Genu valgum, Generali...	OMIM:619321
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Microform Holoprosencephaly	Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten...	ORPHA:280200
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Occipital Horn Syndrome	Persistent open anterior fontanelle, Pectus carinatum, Narrow chest, Broad ribs, Joint laxity, Pe...	OMIM:304150
Maternal Uniparental Disomy Of Chromosome 4	Impaired vibratory sensation, Neurogenic bladder, Ataxia, Impaired proprioception, Optic atrophy,...	ORPHA:96180
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Pigmentary retinopathy, Cataract, Ataxia	ORPHA:79095
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Subglottic stenosis, ...	ORPHA:93357
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Renal duplication	OMIM:270420
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves...	ORPHA:2237
Autosomal Dominant Spastic Paraplegia Type 9A	Low back pain, Urinary incontinence, Tremor, Babinski sign, Impaired vibration sensation in the l...	ORPHA:447753
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Bifid uvula, Craniosynostosis, Micrognathia	OMIM:601374
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Postaxial polydactyly, Hydrocephalus, Tubular luminal dilatation, Renal cort...	OMIM:219730
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Epicanthus, Optic atrophy, Renal cyst, Epiphyseal stippling, Rod-cone dystrophy	OMIM:601539
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Long toe, Epicanthus, Overlapping toe, Single transverse palmar crease, Pectus exca...	ORPHA:254528
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Epicanthus, Lumbar hyperlordosis, Hypospadias, Spastic tetraparesis, Blepharophimosis...	OMIM:616975
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Carious teeth, Scarring alopecia of scalp, Sparse eyebrow, Nail dystr...	OMIM:612843
Mycophenolate Mofetil Embryopathy	Ectopic kidney, Foot polydactyly, Chorioretinal coloboma, Short palm, Microphthalmia, Iris coloboma	ORPHA:268249
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Epicanthus, Unilateral renal agenesis, Postaxial polydactyly, Optic atrophy, Hi...	OMIM:614576
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Digeorge Syndrome	Micrognathia, High, narrow palate, Cleft palate, High palate, Short philtrum, Recurrent sinusitis...	OMIM:188400
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Adnp Syndrome	Thin upper lip vermilion, Sparse scalp hair, Depressed nasal bridge, Thick lower lip vermilion, R...	ORPHA:404448
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Papilledema, Abnormality of retinal pigmentation, Corneal opaci...	ORPHA:580
Cat Eye Syndrome	Renal agenesis, Absent radius, Horseshoe kidney, Hydronephrosis, Umbilical hernia, Chorioretinal ...	OMIM:115470
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Menke-Hennekam Syndrome 1	Short ear, Micrognathia, Deep philtrum, Depressed nasal ridge, Protruding ear, High palate, Short...	OMIM:618332
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation, Craniosynostosis, Hemiplegia/hemiparesis	ORPHA:1496
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Renal agenesis, Absent thumb, Absent radius, Short thumb, Ectopic k...	OMIM:227645
Aspergillosis	Osteomyelitis, Abnormality of the kidney, Keratitis, Dacryocystitis, Abnormal rib morphology, Vit...	ORPHA:1163
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasi...	OMIM:276820
Donnai-Barrow Syndrome	Retinal detachment, Cataract, Retinal dystrophy, Proteinuria, Non-acidotic proximal tubulopathy, ...	OMIM:222448
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Bilateral microphthalmos, Calvarial osteosclerosis, ...	ORPHA:93325
Familial Adenomatous Polyposis	Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo...	ORPHA:733
Hereditary Angioedema Type 1	Abnormal soft palate morphology, Abnormal uvula morphology, Tongue edema, Intestinal edema	ORPHA:100050
Trisomy 10P	Thumb contracture, Epicanthus, Wide cranial sutures, Poor motor coordination, Abnormality of the ...	ORPHA:171929
Loeys-Dietz Syndrome 1	Eosinophilic infiltration of the esophagus, Micrognathia, Craniosynostosis, Hydrocephalus, Cleft ...	OMIM:609192
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Aqueductal stenosis, Hydrocephal...	ORPHA:93259
Sclerosteosis 1	Syndactyly, Papilledema, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Optic atroph...	OMIM:269500
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
Loeys-Dietz Syndrome	Joint dislocation, Camptodactyly of finger, Craniosynostosis, Micrognathia, Orofacial cleft, High...	ORPHA:60030
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation, Renal cell carcinoma	ORPHA:122
Kabuki Syndrome	Hemivertebrae, Orofacial cleft, Protruding ear, Abnormal form of the vertebral bodies, High palat...	ORPHA:2322
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Downturned corners of mouth, Small earlobe, Genu varum, Absent eyebrow, Alopecia, A...	OMIM:264090
Tolchin-Le Caignec Syndrome	Abnormal vestibular function, Thick eyebrow, Prominent nose, Micrognathia, Sensorineural hearing ...	OMIM:618971
15Q24 Microdeletion Syndrome	Hypospadias, Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe morphology, Mye...	ORPHA:94065
Vater/Vacterl Association	Renal dysplasia, Syndactyly, Occipital encephalocele, Hypospadias, Renal agenesis, Spina bifida, ...	OMIM:192350
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Primrose Syndrome	Hypoplasia of the maxilla, Synophrys, Knee flexion contracture, Downturned corners of mouth, Irre...	OMIM:259050
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Micrognathia, Multiple joint dislocation, High palate, Microdontia, Anteverted nares, Depressed n...	ORPHA:536467
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Epicanthus, Torticollis, Hemidystonia, Tapered finger, Tremor, Enuresis nocturna,...	OMIM:619680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve...	OMIM:614643
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Optic atrophy, Coloboma, Palmoplantar keratoderma, Spotty hyperp...	ORPHA:324737
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Dental crowding, Synophrys, High palate, Short philtrum, Thickened helices...	ORPHA:3063
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Rickets, Corneal crystals, Abnormal tubulointerstitial morphology, Renal tubul...	ORPHA:411629
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ...	OMIM:301068
Joubert Syndrome 8	Optic disc pallor, Ataxia, Pigmentary retinopathy, Hypertonia, Oculomotor apraxia, Ptosis	OMIM:612291
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Absent thumb, Absent radius, Preaxial hand polydact...	OMIM:227646
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Genu varum, Genu valgum, Hypoplasia of teeth	OMIM:613312
Warburg Micro Syndrome 4	Optic atrophy, Developmental cataract, Microcornea, Microphthalmia, Micropenis	OMIM:615663
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Recurrent urinary tract infections, Optic disc coloboma, Short metatarsal, Rena...	OMIM:617157
Caroli Disease	Conjunctival icterus, Polycystic kidney dysplasia	ORPHA:53035
Meier-Gorlin Syndrome 6	Microretrognathia, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Underdevel...	OMIM:616835
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Epicanthus, Ataxia, Renal agenesis, Highly arched eyebrow, Ren...	ORPHA:2754
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Tapered finger, Abnormal thorax morphology, Microphthalmia, Iris colobom...	ORPHA:1236
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Synophrys, Low anterior hairline, Downturned corners of mouth, Widely spaced tee...	OMIM:301044
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila...	ORPHA:49041
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Metaphyseal chondrodysplasia, Enlargement of the wrists, Babinski sign, Spastic paraplegi...	ORPHA:83629
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw	ORPHA:199276
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Single transverse palmar crease, Short neck, Flexion contrac...	ORPHA:96334
Gabriele-De Vries Syndrome	Hallux valgus, Telecanthus, Sandal gap, Sparse eyebrow, Long fingers, Epiblepharon, Tremor, Dista...	OMIM:617557
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Scapular winging, Urinary incontinence, Parkinsonism, Tremor, Intrinsic hand muscle at...	ORPHA:329478
Williams Syndrome	Osteopenia, Hypoplasia of penis, Tremor, Dysmetria, Abnormal form of the vertebral bodies, Nephro...	ORPHA:904
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Micromelia, Sh...	ORPHA:3003
Isotretinoin-Like Syndrome	Anteverted nares, Micrognathia, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Cleft palate,...	ORPHA:2306
Coffin-Siris Syndrome 4	Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Wide nose, Anteverted...	OMIM:614609
Lacrimoauriculodentodigital Syndrome 2	Conical tooth, Carious teeth, Cupped ear, Microtia, Hypodontia, Microdontia, Hearing impairment	OMIM:620192
Thakker-Donnai Syndrome	Short neck, Hemivertebrae, Upslanted palpebral fissure, Long palpebral fissure, Cervical C2/C3 ve...	ORPHA:1780
Hartsfield Syndrome	Wide nose, Median cleft lip, Posteriorly rotated ears, Craniosynostosis, Cleft upper lip, Alobar ...	OMIM:615465
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener...	OMIM:611131
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cataract, Keratoconjunctivitis, Nephrocalcinosis, Perifoveal ring of hyperautofluorescence, Pigme...	OMIM:240300
3Mc Syndrome 1	Dental crowding, Highly arched eyebrow, Cleft upper lip, Supernumerary nipple, Cleft lip, Wide an...	OMIM:257920
Loeys-Dietz Syndrome 3	Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Craniosynostosis, Osteoarthritis...	OMIM:613795
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Occipital encephalocele, Retinal atrophy, Corneal opacity, Optic nerve hypopl...	OMIM:236670
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Narrow nasal ridge, Micrognathia, Premature graying of hair, Advanced eruption of teeth, Generali...	ORPHA:280365
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Sacral dimple, Ataxia, Short neck, Pectus excavatum, Kyphosis, Talipes cavus equinova...	OMIM:300966
Acrocephalopolydactylous Dysplasia	Epicanthus, Craniosynostosis, Micromelia, Short neck, Postaxial hand polydactyly, Upslanted palpe...	OMIM:200995
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Posteriorly rotated ears, Optic nerve hypoplasia...	OMIM:620330
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Sparse eyelashes, Carious teeth, Esophageal stricture, Nail dystrophy, Microdo...	OMIM:224230
Spastic Paraplegia 9B, Autosomal Recessive	Cataract, Urinary incontinence, Tremor, Impaired distal vibration sensation, Babinski sign, Spast...	OMIM:616586
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, High palate, Broad uvula, Bifid uvula, Micr...	OMIM:619472
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Abnormality of the ureter, ...	ORPHA:1770
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Cam...	OMIM:601803
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Bilateral single transverse palmar creases, Synostosis of carpal bones	ORPHA:3191
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Toriello-Carey Syndrome	Aganglionic megacolon, Abnormal pinna morphology, Micrognathia, Sparse eyebrow, Wide anterior fon...	ORPHA:3338
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:280195
Hyperparathyroidism, Transient Neonatal	Osteopenia, Wide cranial sutures, Short femur, Recurrent fractures, Metaphyseal spurs, Unilateral...	OMIM:618188
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Hermansky-Pudlak Syndrome 2	Thin upper lip vermilion, Posteriorly rotated ears, Albinism, Carious teeth, Wide nasal bridge, P...	OMIM:608233
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Short thumb, Micropenis, Hip dysplasia, Narrow ches...	OMIM:300895
Moebius Syndrome	Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, Abnormality of the sense of smell, ...	ORPHA:570
D-Bifunctional Protein Deficiency	Osteopenia, Epicanthus, Delayed cranial suture closure, Pectus excavatum, Delayed skeletal matura...	OMIM:261515
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Congenital hip dislocation, Joint laxity, Thoracolumbar scoliosis, Tapered finger, Cy...	ORPHA:480880
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Epicanthus, Broad femoral neck, Optic neuropathy, Increased intervertebral...	OMIM:619727
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Depressed nasal bridge, Abnormal pinna morphology, Micrognathia, Bu...	OMIM:614437
Lacrimoauriculodentodigital Syndrome 1	Mixed hearing impairment, Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of ...	OMIM:149730
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Anal stenosis, Wide nose, Congenital hip dislocation,...	OMIM:606170
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Reduced bone mineral density, Pig...	ORPHA:2235
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Epicanthus, Long clavicles, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Con...	ORPHA:83617
Syndromic Diarrhea	Hypopigmentation of hair, Renal hypoplasia, Polycystic kidney dysplasia, Generalized hypopigmenta...	ORPHA:84064
Fanconi Anemia, Complementation Group S	Microphthalmia, Clinodactyly, Proximal placement of thumb	OMIM:617883
Fryns Syndrome	Multicystic kidney dysplasia, Corneal opacity, Hypospadias, Vesicoureteral reflux, Narrow chest, ...	ORPHA:2059
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,...	ORPHA:99027
Diamond-Blackfan Anemia 10	Posteriorly rotated ears, Choanal atresia, Micrognathia, Cleft palate, Microtia, Atresia of the e...	OMIM:613309
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Decreased hip abduction, Shoulder flexion contracture, Tremor, Pectus carinatum	OMIM:605355
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,...	ORPHA:99750
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Cleft lip, Kyphosis, Cleft palate, Protruding ear	OMIM:619123
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Williams-Beuren Syndrome	Premature graying of hair, Nephrocalcinosis, Vesicoureteral reflux, Clinodactyly of the 5th finge...	OMIM:194050
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Uplifted earlobe, Supernumerary nipple, Pyloric...	OMIM:235730
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Meier-Gorlin Syndrome 7	Anteriorly placed anus, Vertebral segmentation defect, High palate, Dislocated radial head, Sagit...	OMIM:617063
Encephalocraniocutaneous Lipomatosis	Linear hyperpigmentation, Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Microphthalmia, P...	OMIM:613001
Distal Renal Tubular Acidosis	Hyperphosphaturia, Osteomalacia, Hypocitraturia, Paralysis, Rickets, Nephrolithiasis, Renal cyst,...	ORPHA:18
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis, Esophageal carcinoma, Mul...	ORPHA:247806
Simpson-Golabi-Behmel Syndrome, Type 1	Accelerated skeletal maturation, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Nar...	OMIM:312870
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Tubulointerstitial Nephritis And Uveitis Syndrome	Choroidal neovascularization, Sterile pyuria, Renal interstitial edema, Tubulointerstitial nephri...	ORPHA:91500
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract	OMIM:618805
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf...	ORPHA:449395
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Depressed nasal bridge, Broad nasal tip, Cleft lip, Kyphosis, Cupped ear, Hemivertebrae, Low ante...	OMIM:618223
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Urinary incontinence, Tremor, Amyloid deposition in the vitreous humor, Abnormal pyramida...	OMIM:105210
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Recurrent upper respiratory tract infections, Gingival overgrowth, Hea...	ORPHA:508542
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Renal cyst	OMIM:602579
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Renal malrotation, Large for gestational age, Bowing of the legs, Renal cyst, Co...	OMIM:617107
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Abnormality of skin pigmentation, Microcornea, Keratoc...	ORPHA:1806
3-Methylglutaconic Aciduria, Type Viib	Cataract, Rhizomelia, Ataxia, Tremor, Brachioradialis areflexia, Flexion contracture, Opisthotonu...	OMIM:616271
Bardet-Biedl Syndrome 20	Papilledema, Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, ...	OMIM:619471
Mitochondrial Dna-Associated Leigh Syndrome	Multiple glomerular cysts, Ataxia, Chorea, Optic atrophy, Lacticaciduria, Gait ataxia, Pigmentary...	ORPHA:255210
Exstrophy-Epispadias Complex	Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Spina bifida, Abnorm...	ORPHA:322
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Torticollis, Short neck, Femoral bowing, Short long bone, Broad r...	OMIM:617022
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Prominent nose, Micrognathia, Deep philtrum, Multiple joi...	OMIM:619503
Usher Syndrome	Abnormality of retinal pigmentation, Cataract, Ataxia, Vestibular areflexia, Astigmatism	ORPHA:886
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ptosis, Cataract, Hypospadias, Wormian bones, Highly arched eyebrow, Synophrys, Small hand, Vesic...	ORPHA:444077
Diphallia	Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe...	ORPHA:227
Cardiac Valvular Dysplasia 1	Urethral diverticulum, Hydroureter, Hydronephrosis	OMIM:212093
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Ankle clon...	ORPHA:1435
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Tremor, Methylmalo...	OMIM:277400
Osteopetrosis With Renal Tubular Acidosis	Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Macrotia, Thick lower l...	ORPHA:2785
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Somatic sensory dysfunction, Anterior subcapsular cataract, Ataxia, Cataract, Ant...	ORPHA:67036
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Coronal craniosynostosis	ORPHA:228390
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Cho...	OMIM:618877
Cystic Echinococcosis	Bone cyst, Renal cyst, Membranous nephropathy, Ovarian cyst, Abnormality of the vertebral column,...	ORPHA:400
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Failure to thrive, Proximal renal tubular acidosis, Postaxial polydactyly	OMIM:615824
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Enamel hypoplasia, Depressed nasal bridge	ORPHA:94089
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Bifi...	ORPHA:261537
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impai...	OMIM:606002
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Widely spaced teeth,...	ORPHA:2152
C Syndrome	Joint dislocation, Death in infancy, Multicystic kidney dysplasia, Toe syndactyly, Sacral dimple,...	ORPHA:1308
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Intrauterine growth retardation, Cl...	ORPHA:1587
Meckel Syndrome, Type 6	Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney	OMIM:612284
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Carious teeth, Hypoplasia of the maxilla, Hip dislocation, High anterio...	OMIM:182250
Chromosome 1P36 Deletion Syndrome, Proximal	Broad eyebrow, Anteverted nares, Posteriorly rotated ears, Micrognathia, Bifid nasal tip, Cleft l...	OMIM:619343
Schimmelpenning-Feuerstein-Mims Syndrome	Hyperphosphaturia, Corneal opacity, Abnormal toe morphology, Abnormal finger morphology, Horsesho...	OMIM:163200
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Camurati-Engelmann Disease	Delayed eruption of teeth, Hyperlordosis, Carious teeth, Kyphosis, Craniofacial osteosclerosis, G...	ORPHA:1328
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Abnormal renal tubule morphology, Camptodactyly of finger, Abnormal preputium ...	ORPHA:2907
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Renal agenesis, Rocker bottom foot, Micromelia, Spina bifida, ...	OMIM:256520
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Single transverse palmar crease, Sclerocornea, Pigmentary retinopathy, Cho...	OMIM:309801
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Rieger anomaly, Hypoplasia of the maxilla, Wide nasal br...	OMIM:180500
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Abnormality of the hand, Bilateral microphthalmos, Umbilical hernia, Camptodactyly, O...	ORPHA:369891
Nijmegen Breakage Syndrome	Abnormal hair quantity, Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Prominent ...	ORPHA:647
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Epicanthus, Recurrent urinary tract infections, Sandal gap, Retinal ...	OMIM:251260
Caroli Syndrome	Conjunctival icterus, Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Faciocardiorenal Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Protruding ear, Hypodontia, Narrow mo...	ORPHA:1973
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Hypospadias, Dystonia, Flexion contracture, Methylmalonic aciduria, C...	ORPHA:17
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Ptosis, Telecanthus, Prominent metopic ridge, Polydactyly, Myoclonus, Downslanted...	ORPHA:314655
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Iris atrophy, Cataract, Metaphyseal widening, Phthisis bulbi, Tibial bowing,...	OMIM:259770
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Ectropion of lower eyelids, Preaxial polydactyly, Co...	OMIM:614976
Lead Poisoning	Delayed eruption of teeth	ORPHA:330015
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Floating-Harbor Syndrome	Prominent nose, Downturned corners of mouth, Short philtrum, Conductive hearing impairment, Micro...	OMIM:136140
Aspartylglucosaminuria	Mandibular prognathia, Beaking of vertebral bodies, Abnormality of the dentition, Carious teeth, ...	ORPHA:93
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Synophrys, Protruding ear, Short philtrum, High palate, Otitis media, Anteve...	OMIM:619475
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preax...	OMIM:603671
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Nestor-Guillermo Progeria Syndrome	Wide cranial sutures, Sparse eyelashes, Limited elbow movement, Joint stiffness, Sparse eyebrow, ...	OMIM:614008
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Depressed nasal bridge, Micrognathia, Abnormality of the elbow, Cleft pala...	ORPHA:85276
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Stage 5 chronic kidney...	ORPHA:731
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Ataxia, Tremor, Nephrotic syndrome, Focal segmental glomeru...	OMIM:607426
Lymphedema-Distichiasis Syndrome	Micrognathia, Cleft upper lip, Kyphosis, Yellow nails, Cleft palate, Microphthalmia, Distichiasis	OMIM:153400
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum	ORPHA:63260
Faundes-Banka Syndrome	Thin upper lip vermilion, Sparse scalp hair, Micrognathia, Underdeveloped nasal alae, Bulbous nos...	OMIM:619376
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Myoclonic-Astatic Epilepsy	Microphthalmia, Syndactyly	ORPHA:1942
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Delayed eruption of primary teeth	OMIM:300952
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Renal hyp...	ORPHA:2473
Chromosome 13Q14 Deletion Syndrome	Overlapping toe, Single transverse palmar crease, Hip dislocation, Micropenis, Umbilical hernia, ...	OMIM:613884
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Cataract, Limb joint contracture, Tremor, Fasciculations, Hydroneph...	OMIM:620327
Iniencephaly	Encephalocele, Spina bifida, Hyperlordosis, Myelomeningocele, Hydrocephalus, Anencephaly, Absent ...	ORPHA:63259
Melas	Abnormal central motor function, Proteinuria, Ataxia, Optic atrophy, Hemiparesis, Focal segmental...	ORPHA:550
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Urolithiasis, Gout, Hyperuricosuria, Death in childhood, Uric a...	OMIM:300661
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the...	ORPHA:3339
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Narrow nasal bridge, Dental crowding, Kyphoscoliosis, Prominent nose, High, narrow palate, Kyphos...	OMIM:300967
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Corneal dystrophy, Corneal opacity, Short neck, Sparse eyebrow, Optic nerve hypoplas...	ORPHA:495875
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Hypoglossia-Hypodactyly Syndrome	Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Wide nasal bridge, Cleft palate,...	ORPHA:989
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Flexion contracture, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior syn...	OMIM:613154
Retinitis Pigmentosa 66	Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Bifi...	ORPHA:261552
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231183
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle...	ORPHA:705
Hydrolethalus Syndrome 1	Hypospadias, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hal...	OMIM:236680
Loeys-Dietz Syndrome 2	Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Micrognathia, Craniosynostosis, ...	OMIM:610168
Peters Plus Syndrome	Ureteral duplication, Micromelia, Microcornea, Clinodactyly of the 5th finger, Spina bifida occul...	ORPHA:709
Kabuki Syndrome 1	Joint dislocation, Congenital hip dislocation, Micrognathia, Protruding ear, High palate, Abnorma...	OMIM:147920
Okamoto Syndrome	Urinary incontinence, Abnormally large globe, Unilateral renal hypoplasia, Hip dysplasia, Astigma...	ORPHA:2729
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Accelerated skeletal matura...	ORPHA:93317
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Gaucher Disease	Osteopenia, Joint dislocation, Tremor, Osteoarthritis, Bone pain, Abnormality of skin pigmentatio...	ORPHA:355
Glutaryl-Coa Dehydrogenase Deficiency	Joint dislocation, Dystonia, Ataxia, Poor motor coordination, Tremor, Glutaric aciduria, Chorea, ...	ORPHA:25
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Ataxia, Macular coloboma, Hemolytic-uremic syndro...	ORPHA:79282
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Telecanthus, Pectus excavatum, Wide anterior fontanel, Renal cortical cysts, Astigmatism, Scolios...	OMIM:618548
Neurocardiofaciodigital Syndrome	Syndactyly, Cataract, Small for gestational age, Sclerocornea, Polydactyly, Vesicoureteral reflux...	OMIM:619869
Early Infantile Epileptic Encephalopathy	Ureterocele, Short finger, Broad finger, Umbilical hernia, Micropenis, Failure to thrive, Renal d...	ORPHA:1934
Phocomelia, Schinzel Type	Micrognathia, High, narrow palate, Meningocele, Humeroradial synostosis, Tracheoesophageal fistul...	ORPHA:2879
Heart And Brain Malformation Syndrome	Hand clenching, Microphthalmia, Prominent metopic ridge, Camptodactyly of finger	OMIM:616920
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Xeroderma Pigmentosum, Complementation Group B	Cataract, Freckling, Optic atrophy, Pigmentary retinopathy, Microphthalmia	OMIM:610651
Intellectual Developmental Disorder, Autosomal Dominant 54	Sparse hair, Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth	OMIM:617799
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in childhood, Neonatal death, Absent eyebrow, Multicystic kidney dysplasia, Death in infanc...	OMIM:308205
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst	ORPHA:79303
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Epicanthus, Telecanthus, Renal cyst, Upslanted palpebral fissure, Talipes equinovarus, Downslante...	OMIM:617260
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Alexander Disease	Osteopenia, Ataxia, Clonus, Hyperlordosis, Short neck, Kyphosis, Chorea, Tremor, Abnormal pyramid...	ORPHA:58
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Dystonia, Frequent falls, Tremor, Optic atrophy, Dy...	ORPHA:845
Knobloch Syndrome 1	Duplicated collecting system, Occipital encephalocele, Occipital meningocele, Band keratopathy, S...	OMIM:267750
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Cataract, Ataxia, Dystonia, Hyperlordosis, Tremor, Chorea, Athetosis, Hip dysplas...	OMIM:615356
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hypospadias, Tapered finger, Optic atrophy, Renal hypoplasia, Genu valgum, Micropenis, Talipes eq...	OMIM:309580
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Duplication of renal pelvis, Ureteral duplication	ORPHA:457212
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Carious teeth, Oral ulcer, Gingivitis, Enterocolitis, Ulcerative colitis, Gout, Inflam...	ORPHA:79259
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Anemia	ORPHA:160
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal sternum morphology, Retin...	ORPHA:42775
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Somatic sensory dysfunction, Hypopigmentation of hair, Ataxi...	ORPHA:167
Meckel Syndrome, Type 7	Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney...	OMIM:267010
Pearson Syndrome	Renal insufficiency, Cataract, Proteinuria, Ataxia, Lacticaciduria, Renal cyst, Corneal stromal e...	ORPHA:699
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Enamel hypoplasia, Depressed nasal bridge	ORPHA:79444
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Sandal gap, Proteinuria, Delayed cranial suture closure, Joint stiffness, Decreased f...	OMIM:619127
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract, Retinal dystrophy	OMIM:616538
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Single transverse palmar crease, Developmental cataract,...	OMIM:620185
Opticocochleodentate Degeneration	Cochlear degeneration, Hearing impairment	OMIM:258700
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Wilson Disease	Tremor, Osteoarthritis, Hand tremor, Aminoaciduria, Limb dystonia, Osteomalacia, Hypoesthesia, Os...	OMIM:277900
Marcus-Gunn Syndrome	Coloboma, Nephrolithiasis, Morning glory anomaly	ORPHA:91412
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Coloboma, Short femur, Foot oligodactyly, Anterior encephalocele	OMIM:601357
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft palate, Kyp...	OMIM:614557
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Retinal dystrophy, Ataxia, Tremor, Myoglobinuria	ORPHA:713
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:617023
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Frequent falls, Babinski sign, Equinus calcaneus	ORPHA:746
Eisenmenger Syndrome	Iron deficiency anemia, Brain abscess, Hypochromic microcytic anemia, Increased mean corpuscular ...	ORPHA:97214
Mosaic Variegated Aneuploidy Syndrome	Epicanthus, Multicystic kidney dysplasia, Corneal opacity, Cataract, Osteolysis, Multiple cafe-au...	ORPHA:1052
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Kenny-Caffey Syndrome, Type 2	Papilledema, Developmental cataract, Retinal calcification, Microphthalmia, Thickened cortex of l...	OMIM:127000
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multiple small ve...	ORPHA:93311
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Telecanthus, Single tra...	OMIM:303600
Transketolase Deficiency	Increased level of ribose in urine, Renal cyst	ORPHA:488618
Tetraamelia Syndrome 1	Choanal atresia, Cleft upper lip, Micrognathia, Hydrocephalus, Single naris, Cleft palate, Low-se...	OMIM:273395
Kallmann Syndrome	Hypoplasia of penis, Ataxia, Recurrent fractures, Renal agenesis, Tremor, Delayed skeletal matura...	ORPHA:478
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Enamel hypoplasia, Depressed nasal bridge, Sensorineural hearing impai...	ORPHA:79443
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ptosis, Ulnar deviation of the hand, Telecanthus, Elbow contracture, Camptodacty...	OMIM:208150
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Death in infancy, Hydrocephalus, Buphthalmos, Microphthalmia	OMIM:613150
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Kindler Epidermolysis Bullosa	Urethral stricture, Finger syndactyly, Corneal opacity, Camptodactyly of finger, Phimosis, Flexio...	ORPHA:2908
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetr...	OMIM:618527
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Renal agenesis, Horseshoe kid...	OMIM:306955
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Hyperphosphaturia, Choroidal neovascularization, Osteomalacia, Abnormal ...	ORPHA:51608
Peroxisome Biogenesis Disorder 4B	Ureterocele	OMIM:614863
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Wrist swelling, Hip dislocation,...	OMIM:309000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia, Microphthalmia	OMIM:253800
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Neonatal death, Abnormal ve...	OMIM:615709
Dextrocardia	Congenital hip dislocation, Abnormal rib morphology, Abnormal renal morphology, Abnormality of th...	ORPHA:1666
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy, Myoglobinuria	OMIM:609015
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme...	ORPHA:52368
Von Hippel-Lindau Disease	Back pain, Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholam...	ORPHA:892
Neurodegeneration With Brain Iron Accumulation 4	Scapular winging, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Optic atroph...	OMIM:614298
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Single transverse palmar crease, Generalized joint lax...	ORPHA:1596
Acute Intermittent Porphyria	Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Somatic sensory dysfunc...	ORPHA:79276
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Dislocated radial head, Micrognathia, Hypoplasia of the premaxilla, Mandibular condyle hypoplasia	ORPHA:2975
Knobloch Syndrome	Occipital encephalocele, Cataract, Ectopia lentis, Vesicoureteral reflux, Bifid ureter	ORPHA:1571
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Depressed nasal bridge, Posteriorly rotated ears, Spina bifida, Micro...	OMIM:304120
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Camptodactyly of f...	ORPHA:468631
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:99880
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Sotos Syndrome	Ureteral duplication, Vesicoureteral reflux, Hypospadias, Abnormality of the kidney, 2-3 toe synd...	ORPHA:821
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Dpagt1-Cdg	Arachnodactyly, Ataxia, Tremor, Flexion contracture, Osteoporosis, Optic atrophy, Developmental c...	ORPHA:86309
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:143
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu...	OMIM:278730
Joubert Syndrome 5	Ataxia, Impaired renal concentrating ability, Oculomotor apraxia, Stage 5 chronic kidney disease,...	OMIM:610188
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Cerebral palsy, Ataxia, Preaxial polydactyly, Downslanted palpebral fissures	ORPHA:163681
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Myoglobinuria, Dicarboxylic aciduria	ORPHA:71212
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Urinar...	OMIM:146500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina...	OMIM:253280
Trichothiodystrophy	Bilateral microphthalmos, Clubbing, Developmental cataract, Microcornea, Macular degeneration, Nu...	ORPHA:33364
Hereditary Pheochromocytoma-Paraganglioma	Hypertensive retinopathy, Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated ur...	ORPHA:29072
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Gabriele-De Vries Syndrome	Hallux valgus, Telecanthus, Sydney crease, Sandal gap, Craniosynostosis, Lacrimal duct stenosis, ...	ORPHA:506358
Lipodystrophy, Familial Partial, Type 7	Cataract, Polyuria, Clonus, Babinski sign, Dysmetria, Distal sensory impairment, Gait ataxia, Dev...	OMIM:606721
Multiple Synostoses Syndrome 4	Otosclerosis, Tarsal synostosis	OMIM:617898
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Small for gestational age, Cervical ribs, Umbilical hernia, Failure to thrive	ORPHA:2255
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Cervical ribs, Glycosuria, Umbilical hernia, Failure to thrive	OMIM:600001
Trichothiodystrophy 1, Photosensitive	Cataract, Freckling, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	OMIM:601675
Witteveen-Kolk Syndrome	Proximal placement of thumb, Anisocoria, Male urethral meatus stenosis, Microphallus, Short palm,...	OMIM:613406
Phace Association	Optic nerve hypoplasia, Optic atrophy, Developmental cataract, Increased retinal vascularity, Mic...	OMIM:606519
Aicardi-Goutières Syndrome	Multiple joint contractures, Extrapyramidal muscular rigidity, Dystonia, Tremor, Hemiplegia/hemip...	ORPHA:51
Deafness, Autosomal Dominant 9	Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment	OMIM:601369
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Craniosynostosis	OMIM:613451
Bohring-Opitz Syndrome	Retinal atrophy, Ulnar deviation of the wrist, Pectus excavatum, Bilateral wrist flexion contract...	ORPHA:97297
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst	OMIM:617478
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Histiocytoid Cardiomyopathy	Corneal opacity, Optic atrophy, Renal cyst, Microphthalmia, Megalocornea, Congenital aphakia	ORPHA:137675
Listeriosis	Back pain, Somatic sensory dysfunction, Stiff neck, Osteomyelitis, Ataxia, Miscarriage, Tremor, P...	ORPHA:533
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Spina bifida, Renal hy...	ORPHA:991
Heterotaxy, Visceral, 5, Autosomal	Intrauterine growth retardation, Ureteral duplication, Ureteral stenosis, Renal hypoplasia	OMIM:270100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Multicystic kidney dysplasia, Optic nerve dysplasia, Spasticity, Retinal dyspla...	OMIM:615287
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst	OMIM:191100
Tuberous Sclerosis 2	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe...	OMIM:613254
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus trac...	OMIM:600145
Linear Nevus Sebaceus Syndrome	Microphthalmia, Irregular hyperpigmentation, Iris coloboma, Melanocytic nevus	ORPHA:2612
Norrie Disease	Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Sensorineural hearing impairment, Protruding...	ORPHA:649
Choanal Atresia	Polydactyly, Craniosynostosis	ORPHA:137914
Culler-Jones Syndrome	Micropenis, Postaxial polydactyly	OMIM:615849
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ...	ORPHA:47159
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Mpdu1-Cdg	Renal cortical cysts	ORPHA:79323
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Retina...	ORPHA:790
Pmm2-Cdg	Osteopenia, Joint laxity, Epicanthus, Multiple joint contractures, Proteinuria, Ataxia, Kyphoscol...	ORPHA:79318
Peutz-Jeghers Syndrome	Clubbing of fingers, Abnormality of the ureter, Clubbing, Bladder polyp	OMIM:175200
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Syndactyly, Dark urine, Renal insufficiency, Postaxial polydactyly, Broad first metat...	OMIM:619534
Fontaine Progeroid Syndrome	Syndactyly, Death in infancy, Craniosynostosis, Hydrocephalus, Coronal craniosynostosis, Deep pal...	OMIM:612289
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Septo-optic dysplasia, Optic nerve hypoplasia, Delayed skeletal maturation, Polydacty...	ORPHA:95494
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Talipes equinovarus, Microphthalmia, Brachydactyly	OMIM:100300
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata...	OMIM:175780
Aplasia Of Lacrimal And Salivary Glands	Carious teeth, Xerostomia	OMIM:180920
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma	ORPHA:538
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Beckwith-Wiedemann Syndrome	Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E...	OMIM:130650
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Cochlear degeneration, Hearing impairment	ORPHA:95433
Holoprosencephaly 1	Microphthalmia, Cyclopia, Micropenis	OMIM:236100
Otosclerosis 10	Otosclerosis	OMIM:615589
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Congenital Tracheal Stenosis	Abnormality of the ureter, Abnormality of the kidney	ORPHA:141127

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Bmp7

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bmp7.

No publications found that use IMPC mice or data for Bmp7.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Bmp7^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Bmp7^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Bmp7^{tm48315(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Bmp7^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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