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 |
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Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Robinow Syndrome, Autosomal Dominant 2 |
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Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... |
OMIM:616331 |
Omphalocele-Cleft Palate Syndrome, Lethal |
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Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
15q26 overgrowth syndrome |
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Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe... |
DECIPHER:81 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
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Occipital encephalocele, Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocu... |
ORPHA:324416 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
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Sacral dimple, Hypospadias, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys... |
OMIM:615761 |
Autosomal Recessive Centronuclear Myopathy |
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Hip contracture, Hyperlordosis, Protruding ear, High palate, Narrow mouth, Retrognathia, Bifid uvula |
ORPHA:169186 |
Laurence-Moon Syndrome |
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Ataxia, Abnormality of the hand, Spastic paraplegia, Chorioretinal atrophy, Pigmentary retinopath... |
OMIM:245800 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
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Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Distal Deletion 17Q |
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Low-set, posteriorly rotated ears, Prominent metopic ridge, Abnormality of the philtrum, Aplasia/... |
ORPHA:1597 |
Amelo-Onycho-Hypohidrotic Syndrome |
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Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Bardet-Biedl Syndrome 17 |
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Cone/cone-rod dystrophy, Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentatio... |
OMIM:615994 |
Coffin-Lowry Syndrome |
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Abnormal form of the vertebral bodies, Pectus carinatum, Hypertonia, Progressive spasticity, Shor... |
ORPHA:192 |
Lower Limb Malformation-Hypospadias Syndrome |
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Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
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Abnormality of retinal pigmentation, Ataxia |
ORPHA:2579 |
Otospondylomegaepiphyseal Dysplasia |
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Abnormally ossified vertebrae, Enlarged joints, Depressed nasal bridge, Anteverted nares, Posteri... |
ORPHA:1427 |
Roberts Syndrome |
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Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur... |
ORPHA:3103 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
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Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Cleidocranial Dysplasia 2 |
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Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel, Supernumera... |
OMIM:620099 |
Ceroid Lipofuscinosis, Neuronal, 7 |
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Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia |
OMIM:610951 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
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Short fourth metatarsal, Renal hypoplasia, Patellar hypoplasia, Coloboma, Vesicoureteral reflux, ... |
ORPHA:464288 |
Stromme Syndrome |
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Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Preaxial polydactyly,... |
OMIM:243605 |
Pycnodysostosis |
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Obtuse angle of mandible, Persistent open anterior fontanelle, Prominent nose, Micrognathia, Hypo... |
ORPHA:763 |
Marden-Walker Syndrome |
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Arachnodactyly, Hypospadias, Renal hypoplasia, Radioulnar synostosis, Abnormal sternum morphology... |
OMIM:248700 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
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Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Abnormal form of the vertebral bodies,... |
ORPHA:93262 |
Night Blindness, Congenital Stationary, Type 1D |
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Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Schimke Immuno-Osseous Dysplasia |
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Lumbar hyperlordosis, Depressed nasal bridge, Ovoid vertebral bodies, Broad nasal tip, Abnormal p... |
ORPHA:1830 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl... |
ORPHA:313892 |
Eec Syndrome |
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Slow-growing hair, Abnormal dental enamel morphology, Choanal atresia, Carious teeth, External ea... |
ORPHA:1896 |
Fraser Syndrome |
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Subglottic stenosis, Laryngeal stenosis, Cleft ala nasi, Dental crowding, Anophthalmia, Orofacial... |
ORPHA:2052 |
Distal Duplication 18Q |
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Low-set, posteriorly rotated ears, Abnormal dental morphology, Choanal atresia, Anteverted nares,... |
ORPHA:1716 |
Majeed Syndrome |
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Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Cornelia De Lange Syndrome 5 |
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Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Broad nasal tip, Micrognathia, ... |
OMIM:300882 |
Atelosteogenesis Type I |
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Joint dislocation, Telecanthus, Short femur, Rhizomelia, Abnormal ossification involving the femo... |
ORPHA:1190 |
Leber Congenital Amaurosis 13 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Cenani-Lenz Syndrome |
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Micromelia, Abnormal form of the vertebral bodies, Foot oligodactyly, Synostosis of carpal bones,... |
ORPHA:3258 |
Schinzel-Giedion Midface Retraction Syndrome |
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Increased density of long bones, Single transverse palmar crease, Tibial bowing, Hypoplasia of fi... |
OMIM:269150 |
Spondyloepiphyseal Dysplasia Tarda |
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Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
Craniosynostosis 2 |
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Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Metopic synostosi... |
OMIM:604757 |
Central Areolar Choroidal Dystrophy |
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Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Beare-Stevenson Cutis Gyrata Syndrome |
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Natal tooth, Anteverted nares, Depressed nasal bridge, Choanal atresia, Prominent nasal bridge, P... |
OMIM:123790 |
Trichodermodysplasia-Dental Alterations Syndrome |
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Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Hyperlord... |
ORPHA:3353 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Ataxia, Polyuria, Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Death in ado... |
OMIM:560000 |
Otopalatodigital Syndrome Type 2 |
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Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Vertebral fusion, Spinal instability |
OMIM:251250 |
Glutathione Synthetase Deficiency |
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Ataxia, Spastic tetraparesis, Pigmentary retinopathy, Increased level of L-pyroglutamic acid in u... |
OMIM:266130 |
Atelosteogenesis, Type Iii |
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Cervical segmentation defect, Depressed nasal bridge, Cervical kyphosis, Micrognathia, Hypoplasia... |
OMIM:108721 |
Pycnodysostosis |
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Persistent open anterior fontanelle, Delayed eruption of primary teeth, Persistence of primary te... |
OMIM:265800 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Anteverted nares, Protruding tongue, Sensorineural hearing impairment, Hydrocephalus, Alveolar ri... |
OMIM:612938 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
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Overlapping toe, Unilateral renal agenesis, Renal hypoplasia, Hip dysplasia, Prominent fingertip ... |
OMIM:618494 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Single transverse palmar crease, Micromelia, Short neck, Delayed epiphyseal ossification, Flexion... |
OMIM:210710 |
Phelan-Mcdermid Syndrome |
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Sacral dimple, Thick eyebrow, Epicanthus, Palpebral edema, Abnormality of the kidney, Impaired pa... |
OMIM:606232 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, C... |
OMIM:608940 |
Auriculocondylar Syndrome 1 |
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Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Cup... |
OMIM:602483 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
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Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridg... |
ORPHA:2180 |
Acrocallosal Syndrome |
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Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
Heart Defects-Limb Shortening Syndrome |
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Death in infancy, Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis... |
ORPHA:1354 |
Microcephaly 20, Primary, Autosomal Recessive |
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Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha... |
OMIM:617914 |
Primary Hyperoxaluria Type 2 |
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Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Ventriculomegaly With Defects Of The Radius And Kidney |
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Bowed forearm bones, Ureteral duplication, Renal agenesis, Absent thumb, Absent radius, Ectopic k... |
OMIM:602200 |
Schilbach-Rott Syndrome |
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Posteriorly rotated ears, Prominent nose, Long nose, Micrognathia, Submucous cleft hard palate, M... |
OMIM:164220 |
Thrombocytopenia-Absent Radius Syndrome |
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Clinodactyly of the 5th finger, Axial malrotation of the kidney, Phocomelia, Genu varum, Finger s... |
ORPHA:3320 |
Arthrogryposis, Distal, Type 3 |
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Congenital hip dislocation, Lumbar hyperlordosis, Thoracolumbar scoliosis, Camptodactyly of finge... |
OMIM:114300 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
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Hypoplasia of the maxilla, Low anterior hairline, Wide nasal bridge, High palate, Scoliosis, Shor... |
OMIM:218000 |
Charge Syndrome |
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Anophthalmia, Aqueductal stenosis, Hemivertebrae, Hypoplasia of the semicircular canal, Holoprose... |
ORPHA:138 |
Juvenile Paget Disease |
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Abnormal clavicle morphology, Bowing of the long bones, Abnormality of retinal pigmentation, Recu... |
ORPHA:2801 |
Microphthalmia, Syndromic 2 |
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Anophthalmia, Anteverted ears, Oligodontia, Fused teeth, Laterally curved eyebrow, Bifid uvula, P... |
OMIM:300166 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
Moebius Syndrome |
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Abnormal nasopharynx morphology, Depressed nasal bridge, Abnormal pinna morphology, Abnormality o... |
OMIM:157900 |
Hypomandibular Faciocranial Dysostosis |
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Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Choanal steno... |
ORPHA:1790 |
Vacterl With Hydrocephalus |
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Microtia, third degree, Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Esophageal... |
ORPHA:3412 |
Nephronophthisis 16 |
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Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Alpha-Methylacyl-Coa Racemase Deficiency |
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Cataract, Ataxia, Tremor, Hemiparesis, Pigmentary retinopathy, Spasticity, Rod-cone dystrophy, In... |
OMIM:614307 |
Spermatogenic Failure 81 |
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Multiple non-erupting secondary teeth |
OMIM:620277 |
Sulfite Oxidase Deficiency, Isolated |
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Delayed eruption of teeth, Macrotia, Fine hair |
OMIM:272300 |
Kabuki Syndrome 2 |
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Micrognathia, Protruding ear, High palate, Highly arched eyebrow, Short columella, Low-set ears, ... |
OMIM:300867 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
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Alopecia, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Sensorineural hearing impairment,... |
OMIM:215100 |
Duane Retraction Syndrome |
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Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Ectopic kidney, Sh... |
ORPHA:233 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
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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 |
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Mixed hearing impairment, Prominent nasal bridge, Choanal atresia, Lop ear, Thoracolumbar scolios... |
OMIM:300472 |
Branchioskeletogenital Syndrome |
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Mandibular prognathia, Attached earlobe, Hypoplasia of the maxilla, Synophrys, Anteriorly placed ... |
ORPHA:1299 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat... |
OMIM:619148 |
Zechi-Ceide Syndrome |
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Mandibular prognathia, Wide nose, Thick hair, Cleft lip, Wide nasal bridge, Cleft palate, Abnorma... |
ORPHA:217017 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
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Dystonia, Ataxia, Flexion contracture, Optic atrophy, Babinski sign, Pigmentary retinopathy, Myoc... |
OMIM:252011 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Vertebral fusion, Epicanthus, Abnormality of the upper urinary tract, Elbow dislocation, Kyphosis... |
ORPHA:2916 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Telecanthus, Glutaric aciduria, Wide anterior fontanel, Generalized aminoaciduria, Renal cortical... |
OMIM:231680 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
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Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Bilateral conductiv... |
OMIM:617802 |
Marshall Syndrome |
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Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, High palate, Sparse hair, Thick upper li... |
ORPHA:560 |
Au-Kline Syndrome |
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Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Bifid uvula... |
OMIM:616580 |
Ataxia With Vitamin E Deficiency |
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Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s... |
ORPHA:96 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
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Abnormality of the kidney, Unilateral renal agenesis, Short neck, Abnormal rib morphology, Scolio... |
OMIM:118100 |
Persistent Placoid Maculopathy |
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Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
X-Linked Retinal Dysplasia |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Nphp3-Related Meckel-Like Syndrome |
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Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Orofaciodigital Syndrome Type 3 |
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Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Abnormality of hair textu... |
ORPHA:2752 |
Isolated Cleft Lip |
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Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... |
ORPHA:199302 |
20P12.3 Microdeletion Syndrome |
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Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Microtia, Narrow mouth, Thi... |
ORPHA:261295 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
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Broad nasal tip, Cleft lip, Synophrys, Cleft palate, Low posterior hairline, Thoracic kyphosis |
OMIM:300263 |
X-Linked Intellectual Disability, Abidi Type |
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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 |
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Mandibular prognathia, Dental crowding, Anteverted nares, Prominent nasal bridge, Abnormal pinna ... |
OMIM:309583 |
Larsen-Like Syndrome |
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Joint dislocation, Kyphoscoliosis, Wide anterior fontanel, Dental malocclusion, Cleft palate, Abs... |
OMIM:608545 |
Cleft Palate, Deafness, And Oligodontia |
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No permanent dentition, Oligodontia of primary teeth, Bilateral conductive hearing impairment, Cl... |
OMIM:216300 |
Nephronophthisis 15 |
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Polydactyly, Retinal degeneration, Nephronophthisis |
OMIM:614845 |
Nager Syndrome |
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Low-set, posteriorly rotated ears, Sparse lower eyelashes, Micrognathia, Abnormal nasal morpholog... |
ORPHA:245 |
Alpha-Mannosidosis |
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Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Open bite, Kyphosis, De... |
ORPHA:61 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
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Neonatal death, Epiphyseal stippling, Renal cyst |
OMIM:614870 |
White-Sutton Syndrome |
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Mandibular prognathia, Micrognathia, Downturned corners of mouth, Short philtrum, High palate, Sp... |
OMIM:616364 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Microdon... |
OMIM:305100 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Optic disc pallor, Cataract, Ectopic kidney, Neonatal death, Microphthalmia, Cystic renal dysplasia |
OMIM:613730 |
Caudal Regression Syndrome |
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Ureteral duplication, Renal insufficiency, Renal agenesis, Joint stiffness, Ectopic kidney, Missi... |
ORPHA:3027 |
Diaphanospondylodysostosis |
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Absent in utero ossification of vertebral bodies, Nephrogenic rest, Short neck, Nephroblastomatos... |
OMIM:608022 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
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Short metacarpal, Brachydactyly, Sandal gap, Telecanthus, Postaxial polydactyly, Retinal pigment ... |
OMIM:617102 |
Solitary Median Maxillary Central Incisor |
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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 |
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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 |
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Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m... |
ORPHA:2021 |
Myopathy, Mitochondrial, And Ataxia |
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Ataxia, Pectus excavatum, Tremor, Delayed skeletal maturation, Limb ataxia, Distal sensory impair... |
OMIM:617675 |
Alg9-Cdg |
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Villous atrophy, Micrognathia, Large fleshy ears, Bifid uvula, Microretrognathia, Low-set, poster... |
ORPHA:79328 |
Microphthalmia, Syndromic 9 |
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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 |
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Delayed eruption of teeth, Natal tooth, Hip dislocation, Oligodontia, Hypodontia |
OMIM:614381 |
Native American Myopathy |
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Micrognathia, Conductive hearing impairment, Cleft palate, Downturned corners of mouth, High pala... |
ORPHA:168572 |
Birk-Landau-Perez Syndrome |
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Stage 3 chronic kidney disease, Renal insufficiency, Optic atrophy, Renal hypoplasia, Tubulointer... |
OMIM:617595 |
Retinitis Pigmentosa 57 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Recombinant 8 Syndrome |
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Anteverted nares, Depressed nasal bridge, Hearing impairment, Cleft upper lip, Abnormality of the... |
ORPHA:96167 |
Arboleda-Tham Syndrome |
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Mandibular prognathia, Anteverted ears, Downturned corners of mouth, Short philtrum, Chronic otit... |
OMIM:616268 |
Retinitis Pigmentosa 47 |
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Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Autosomal Recessive Spastic Paraplegia Type 77 |
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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 |
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Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal ... |
ORPHA:3109 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
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Broad nasal tip, Carious teeth, Thick vermilion border, Enamel hypoplasia, Sparse lateral eyebrow |
ORPHA:363523 |
Van Esch-O'Driscoll Syndrome |
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Depressed nasal bridge, Esophageal atresia, Spina bifida occulta, Tracheoesophageal fistula, Prot... |
OMIM:301030 |
Retinitis Pigmentosa 33 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Warburg Micro Syndrome 1 |
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Overlapping toe, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia |
OMIM:600118 |
Suleiman-El-Hattab Syndrome |
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Optic disc pallor, Epicanthus, Single transverse palmar crease, Highly arched eyebrow, Synophrys,... |
OMIM:618950 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
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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 |
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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 |
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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 |
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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 |
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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 |
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Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me... |
OMIM:602111 |
Craniofacial Microsomia 1 |
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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 |
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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 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
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Encephalocele, Microphthalmia, Coronal craniosynostosis |
ORPHA:228390 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
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Dystonia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Cho... |
OMIM:618877 |
Cystic Echinococcosis |
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Bone cyst, Renal cyst, Membranous nephropathy, Ovarian cyst, Abnormality of the vertebral column,... |
ORPHA:400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
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Failure to thrive, Proximal renal tubular acidosis, Postaxial polydactyly |
OMIM:615824 |
Pseudohypoparathyroidism Type 1B |
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Delayed eruption of teeth, Enamel hypoplasia, Depressed nasal bridge |
ORPHA:94089 |
Autosomal Spastic Paraplegia Type 58 |
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Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Bifi... |
ORPHA:261537 |
Oculopalatocerebral Syndrome |
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Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Retinitis Pigmentosa 72 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
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Conjunctival telangiectasia, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impai... |
OMIM:606002 |
Mowat-Wilson Syndrome |
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Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Widely spaced teeth,... |
ORPHA:2152 |
C Syndrome |
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Joint dislocation, Death in infancy, Multicystic kidney dysplasia, Toe syndactyly, Sacral dimple,... |
ORPHA:1308 |
Monosomy 13Q14 |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Intrauterine growth retardation, Cl... |
ORPHA:1587 |
Meckel Syndrome, Type 6 |
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Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney |
OMIM:612284 |
Singleton-Merten Syndrome 1 |
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Thin upper lip vermilion, Carious teeth, Hypoplasia of the maxilla, Hip dislocation, High anterio... |
OMIM:182250 |
Chromosome 1P36 Deletion Syndrome, Proximal |
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Broad eyebrow, Anteverted nares, Posteriorly rotated ears, Micrognathia, Bifid nasal tip, Cleft l... |
OMIM:619343 |
Schimmelpenning-Feuerstein-Mims Syndrome |
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Hyperphosphaturia, Corneal opacity, Abnormal toe morphology, Abnormal finger morphology, Horsesho... |
OMIM:163200 |
Peutz-Jeghers Syndrome |
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Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
Camurati-Engelmann Disease |
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Delayed eruption of teeth, Hyperlordosis, Carious teeth, Kyphosis, Craniofacial osteosclerosis, G... |
ORPHA:1328 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
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Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Hereditary Acrokeratotic Poikiloderma |
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Finger syndactyly, Abnormal renal tubule morphology, Camptodactyly of finger, Abnormal preputium ... |
ORPHA:2907 |
Neu-Laxova Syndrome 1 |
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Finger syndactyly, Toe syndactyly, Renal agenesis, Rocker bottom foot, Micromelia, Spina bifida, ... |
OMIM:256520 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Cataract, Hypospadias, Single transverse palmar crease, Sclerocornea, Pigmentary retinopathy, Cho... |
OMIM:309801 |
Axenfeld-Rieger Syndrome, Type 1 |
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Thin upper lip vermilion, Anal stenosis, Rieger anomaly, Hypoplasia of the maxilla, Wide nasal br... |
OMIM:180500 |
Jalili Syndrome |
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Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Syndactyly, Abnormality of the hand, Bilateral microphthalmos, Umbilical hernia, Camptodactyly, O... |
ORPHA:369891 |
Nijmegen Breakage Syndrome |
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Abnormal hair quantity, Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Prominent ... |
ORPHA:647 |
Nijmegen Breakage Syndrome |
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Conjunctival telangiectasia, Epicanthus, Recurrent urinary tract infections, Sandal gap, Retinal ... |
OMIM:251260 |
Caroli Syndrome |
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Conjunctival icterus, Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
Cone-Rod Dystrophy 8 |
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Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Faciocardiorenal Syndrome |
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Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Protruding ear, Hypodontia, Narrow mo... |
ORPHA:1973 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Short humerus, Short femur, Hypospadias, Dystonia, Flexion contracture, Methylmalonic aciduria, C... |
ORPHA:17 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
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Speech apraxia, Ptosis, Telecanthus, Prominent metopic ridge, Polydactyly, Myoclonus, Downslanted... |
ORPHA:314655 |
Osteoporosis-Pseudoglioma Syndrome |
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Barrel-shaped chest, Iris atrophy, Cataract, Metaphyseal widening, Phthisis bulbi, Tibial bowing,... |
OMIM:259770 |
Carpenter Syndrome 2 |
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Single transverse palmar crease, Short neck, Ectropion of lower eyelids, Preaxial polydactyly, Co... |
OMIM:614976 |
Lead Poisoning |
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Delayed eruption of teeth |
ORPHA:330015 |
Cone-Rod Dystrophy 3 |
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Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Floating-Harbor Syndrome |
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Prominent nose, Downturned corners of mouth, Short philtrum, Conductive hearing impairment, Micro... |
OMIM:136140 |
Aspartylglucosaminuria |
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Mandibular prognathia, Beaking of vertebral bodies, Abnormality of the dentition, Carious teeth, ... |
ORPHA:93 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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High, narrow palate, Synophrys, Protruding ear, Short philtrum, High palate, Otitis media, Anteve... |
OMIM:619475 |
Acute Zonal Occult Outer Retinopathy |
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Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Acromelic Frontonasal Dysostosis |
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Encephalocele, Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preax... |
OMIM:603671 |
Neurodegeneration With Brain Iron Accumulation 3 |
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Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
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Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Nestor-Guillermo Progeria Syndrome |
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Wide cranial sutures, Sparse eyelashes, Limited elbow movement, Joint stiffness, Sparse eyebrow, ... |
OMIM:614008 |
X-Linked Intellectual Disability, Armfield Type |
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Mandibular prognathia, Depressed nasal bridge, Micrognathia, Abnormality of the elbow, Cleft pala... |
ORPHA:85276 |
Autosomal Recessive Polycystic Kidney Disease |
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Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Stage 5 chronic kidney... |
ORPHA:731 |
Coenzyme Q10 Deficiency, Primary, 1 |
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Proteinuria, Recurrent myoglobinuria, Ataxia, Tremor, Nephrotic syndrome, Focal segmental glomeru... |
OMIM:607426 |
Lymphedema-Distichiasis Syndrome |
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Micrognathia, Cleft upper lip, Kyphosis, Yellow nails, Cleft palate, Microphthalmia, Distichiasis |
OMIM:153400 |
Craniorachischisis |
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Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum |
ORPHA:63260 |
Faundes-Banka Syndrome |
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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 |
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Microphthalmia, Syndactyly |
ORPHA:1942 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Microphthalmia, Delayed eruption of primary teeth |
OMIM:300952 |
Mckusick-Kaufman Syndrome |
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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 |
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Exaggerated startle response, Cataract, Limb joint contracture, Tremor, Fasciculations, Hydroneph... |
OMIM:620327 |
Iniencephaly |
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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 |
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Renal insufficiency, Hypospadias, Urolithiasis, Gout, Hyperuricosuria, Death in childhood, Uric a... |
OMIM:300661 |
Toriello-Lacassie-Droste Syndrome |
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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 |
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Hypospadias, Corneal dystrophy, Corneal opacity, Short neck, Sparse eyebrow, Optic nerve hypoplas... |
ORPHA:495875 |
Parkinson Disease 14, Autosomal Recessive |
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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 |
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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 |
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Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Bifi... |
ORPHA:261552 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Hepatic cysts, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Usher Syndrome Type 3 |
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Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Pendred Syndrome |
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Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Hydrolethalus Syndrome 1 |
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Hypospadias, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hal... |
OMIM:236680 |
Loeys-Dietz Syndrome 2 |
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Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Micrognathia, Craniosynostosis, ... |
OMIM:610168 |
Peters Plus Syndrome |
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Ureteral duplication, Micromelia, Microcornea, Clinodactyly of the 5th finger, Spina bifida occul... |
ORPHA:709 |
Kabuki Syndrome 1 |
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Joint dislocation, Congenital hip dislocation, Micrognathia, Protruding ear, High palate, Abnorma... |
OMIM:147920 |
Okamoto Syndrome |
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Urinary incontinence, Abnormally large globe, Unilateral renal hypoplasia, Hip dysplasia, Astigma... |
ORPHA:2729 |
Microphthalmia-Brain Atrophy Syndrome |
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Bilateral microphthalmos |
ORPHA:77299 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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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 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Mohr-Tranebjaerg Syndrome |
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Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Von Hippel-Lindau Disease |
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Back pain, Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholam... |
ORPHA:892 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Scapular winging, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Optic atroph... |
OMIM:614298 |
Distal Deletion 15Q |
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Multicystic kidney dysplasia, Hypospadias, Single transverse palmar crease, Generalized joint lax... |
ORPHA:1596 |
Acute Intermittent Porphyria |
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Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Somatic sensory dysfunc... |
ORPHA:79276 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
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Dislocated radial head, Micrognathia, Hypoplasia of the premaxilla, Mandibular condyle hypoplasia |
ORPHA:2975 |
Knobloch Syndrome |
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Occipital encephalocele, Cataract, Ectopia lentis, Vesicoureteral reflux, Bifid ureter |
ORPHA:1571 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Depressed nasal bridge, Posteriorly rotated ears, Spina bifida, Micro... |
OMIM:304120 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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2-5 finger syndactyly, Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Camptodactyly of f... |
ORPHA:468631 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:99880 |
Cone-Rod Dystrophy 10 |
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Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Von Hippel-Lindau Syndrome |
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Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
Sotos Syndrome |
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Ureteral duplication, Vesicoureteral reflux, Hypospadias, Abnormality of the kidney, 2-3 toe synd... |
ORPHA:821 |
Leber Congenital Amaurosis 15 |
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Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Dpagt1-Cdg |
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Arachnodactyly, Ataxia, Tremor, Flexion contracture, Osteoporosis, Optic atrophy, Developmental c... |
ORPHA:86309 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
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Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Parathyroid Carcinoma |
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Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:143 |
Xeroderma Pigmentosum, Complementation Group D |
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Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... |
OMIM:278730 |
Joubert Syndrome 5 |
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Ataxia, Impaired renal concentrating ability, Oculomotor apraxia, Stage 5 chronic kidney disease,... |
OMIM:610188 |
Retinitis Pigmentosa 45 |
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Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Lower limb spasticity, Cerebral palsy, Ataxia, Preaxial polydactyly, Downslanted palpebral fissures |
ORPHA:163681 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Pigmentary retinopathy, Myoglobinuria, Dicarboxylic aciduria |
ORPHA:71212 |
Multiple System Atrophy 1, Susceptibility To |
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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 |
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Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... |
OMIM:253280 |
Trichothiodystrophy |
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Bilateral microphthalmos, Clubbing, Developmental cataract, Microcornea, Macular degeneration, Nu... |
ORPHA:33364 |
Hereditary Pheochromocytoma-Paraganglioma |
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Hypertensive retinopathy, Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated ur... |
ORPHA:29072 |
Otosclerosis 7 |
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Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Gabriele-De Vries Syndrome |
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Hallux valgus, Telecanthus, Sydney crease, Sandal gap, Craniosynostosis, Lacrimal duct stenosis, ... |
ORPHA:506358 |
Lipodystrophy, Familial Partial, Type 7 |
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Cataract, Polyuria, Clonus, Babinski sign, Dysmetria, Distal sensory impairment, Gait ataxia, Dev... |
OMIM:606721 |
Multiple Synostoses Syndrome 4 |
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Otosclerosis, Tarsal synostosis |
OMIM:617898 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Ureteral duplication, Small for gestational age, Cervical ribs, Umbilical hernia, Failure to thrive |
ORPHA:2255 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Ureteral duplication, Cervical ribs, Glycosuria, Umbilical hernia, Failure to thrive |
OMIM:600001 |
Trichothiodystrophy 1, Photosensitive |
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Cataract, Freckling, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
OMIM:601675 |
Witteveen-Kolk Syndrome |
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Proximal placement of thumb, Anisocoria, Male urethral meatus stenosis, Microphallus, Short palm,... |
OMIM:613406 |
Phace Association |
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Optic nerve hypoplasia, Optic atrophy, Developmental cataract, Increased retinal vascularity, Mic... |
OMIM:606519 |
Aicardi-Goutières Syndrome |
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Multiple joint contractures, Extrapyramidal muscular rigidity, Dystonia, Tremor, Hemiplegia/hemip... |
ORPHA:51 |
Deafness, Autosomal Dominant 9 |
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Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment |
OMIM:601369 |
Frontonasal Dysplasia 2 |
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Encephalocele, Microphthalmia, Craniosynostosis |
OMIM:613451 |
Bohring-Opitz Syndrome |
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Retinal atrophy, Ulnar deviation of the wrist, Pectus excavatum, Bilateral wrist flexion contract... |
ORPHA:97297 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Renal insufficiency, Renal cyst |
OMIM:617478 |
Attenuated Familial Adenomatous Polyposis |
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Multiple renal cysts |
ORPHA:220460 |
Histiocytoid Cardiomyopathy |
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Corneal opacity, Optic atrophy, Renal cyst, Microphthalmia, Megalocornea, Congenital aphakia |
ORPHA:137675 |
Listeriosis |
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Back pain, Somatic sensory dysfunction, Stiff neck, Osteomyelitis, Ataxia, Miscarriage, Tremor, P... |
ORPHA:533 |
Pagod Syndrome |
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Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Spina bifida, Renal hy... |
ORPHA:991 |
Heterotaxy, Visceral, 5, Autosomal |
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Intrauterine growth retardation, Ureteral duplication, Ureteral stenosis, Renal hypoplasia |
OMIM:270100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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11 pairs of ribs, Multicystic kidney dysplasia, Optic nerve dysplasia, Spasticity, Retinal dyspla... |
OMIM:615287 |
Tuberous Sclerosis 1 |
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Renal angiomyolipoma, Renal cell carcinoma, Renal cyst |
OMIM:191100 |
Tuberous Sclerosis 2 |
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Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... |
OMIM:613254 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus trac... |
OMIM:600145 |
Linear Nevus Sebaceus Syndrome |
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Microphthalmia, Irregular hyperpigmentation, Iris coloboma, Melanocytic nevus |
ORPHA:2612 |
Norrie Disease |
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Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Sensorineural hearing impairment, Protruding... |
ORPHA:649 |
Choanal Atresia |
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Polydactyly, Craniosynostosis |
ORPHA:137914 |
Culler-Jones Syndrome |
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Micropenis, Postaxial polydactyly |
OMIM:615849 |
Adult-Onset Dystonia-Parkinsonism |
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Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Proximal Renal Tubular Acidosis |
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Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Cone-Rod Dystrophy 6 |
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Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Mpdu1-Cdg |
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Renal cortical cysts |
ORPHA:79323 |
Retinoblastoma |
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Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Retina... |
ORPHA:790 |
Pmm2-Cdg |
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Osteopenia, Joint laxity, Epicanthus, Multiple joint contractures, Proteinuria, Ataxia, Kyphoscol... |
ORPHA:79318 |
Peutz-Jeghers Syndrome |
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Clubbing of fingers, Abnormality of the ureter, Clubbing, Bladder polyp |
OMIM:175200 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Osteopenia, Syndactyly, Dark urine, Renal insufficiency, Postaxial polydactyly, Broad first metat... |
OMIM:619534 |
Fontaine Progeroid Syndrome |
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Syndactyly, Death in infancy, Craniosynostosis, Hydrocephalus, Coronal craniosynostosis, Deep pal... |
OMIM:612289 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Osteopenia, Septo-optic dysplasia, Optic nerve hypoplasia, Delayed skeletal maturation, Polydacty... |
ORPHA:95494 |
Adams-Oliver Syndrome 1 |
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Encephalocele, Toe syndactyly, Talipes equinovarus, Microphthalmia, Brachydactyly |
OMIM:100300 |
Otosclerosis 8 |
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Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
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Otosclerosis, Hearing impairment |
OMIM:608244 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata... |
OMIM:175780 |
Aplasia Of Lacrimal And Salivary Glands |
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Carious teeth, Xerostomia |
OMIM:180920 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Microcornea, Microphthalmia |
OMIM:110100 |
Lymphangioleiomyomatosis |
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Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
Deafness, Autosomal Dominant 80 |
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Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Otosclerosis 1 |
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Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Night Blindness, Congenital Stationary, Type 1B |
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Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Beckwith-Wiedemann Syndrome |
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Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E... |
OMIM:130650 |
Otosclerosis 4 |
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Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
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Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
Holoprosencephaly 1 |
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Microphthalmia, Cyclopia, Micropenis |
OMIM:236100 |
Otosclerosis 10 |
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Otosclerosis |
OMIM:615589 |
Cancer-Associated Retinopathy |
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Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Congenital Tracheal Stenosis |
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Abnormality of the ureter, Abnormality of the kidney |
ORPHA:141127 |