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Gene: Sgsh MGI:1350341

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Gene Summary

Name:
N-sulfoglucosamine sulfohydrolase (sulfamidase)
Synonyms:
4632406A19Rik,  sulphamidase

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
thrombocytosis Sgshem3(IMPC)Tcp HOM   Early adult 7.75×10-05
decreased exploration in new environment Sgshem3(IMPC)Tcp HOM   Early adult 1.89×10-05
increased circulating alkaline phosphatase level Sgshem3(IMPC)Tcp HOM Early adult 7.03×10-09
increased bone mineral content Sgshem3(IMPC)Tcp HOM Early adult 1.14×10-08
decreased total body fat amount Sgshem3(IMPC)Tcp HOM Early adult 1.70×10-07
increased startle reflex Sgshem3(IMPC)Tcp HOM Early adult 1.45×10-07
increased blood urea nitrogen level Sgshem3(IMPC)Tcp HOM Early adult 3.02×10-05
short tibia Sgshem3(IMPC)Tcp HOM Early adult 1.35×10-07
increased bone mineral density Sgshem3(IMPC)Tcp HOM Early adult 3.48×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

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Gross Pathology and Tissue Collection

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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Histopathology

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Sgsh mutations

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

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

The table below shows human diseases associated to Sgsh by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Ovoid t... OMIM:252900

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Mueller-Weiss Syndrome
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... ORPHA:566943
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Buschke-Ollendorff Syndrome
Lower limb asymmetry, Connective tissue nevi, Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle... OMIM:604416
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Melorheostosis With Osteopoikilosis
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the... ORPHA:1879
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis OMIM:615198
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Isolated Osteopoikilosis
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... ORPHA:166119
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Abnormal heart valve morphology, Splen... ORPHA:93476
Osebold-Remondini Syndrome
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... OMIM:112910
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Adrenomyodystrophy
Megacystis, Myopathy, Abnormality of the urinary system, Megalocornea, Hepatic steatosis ORPHA:977
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Salmonella osteom... OMIM:209950
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Pedal edema ORPHA:75325
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Syno... OMIM:252920
Uncombable Hair Syndrome 2
Uncombable hair, Juvenile cataract, Pili canaliculi OMIM:617251
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Osteoporosis, Dementia, Increased bone density w... OMIM:136300
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis, Mydriasis OMIM:619365
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Freq... OMIM:620141
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... ORPHA:2790
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a... OMIM:617780
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Galactosialidosis
Abnormality of the vertebral column, Corneal opacity, Abnormal vertebral morphology ORPHA:351
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... ORPHA:105
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... ORPHA:79106
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab... ORPHA:2204
Macdermot-Winter Syndrome
Camptodactyly of finger, Highly arched eyebrow, Low anterior hairline, Frontal upsweep of hair, H... OMIM:247990
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Melorheostosis
Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Atypical scarring of skin,... ORPHA:2485
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Abnormal heart morphology, Aplasia... ORPHA:1067
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Hepatomegaly, Corneal opacity ORPHA:2432
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, Sy... OMIM:252930
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Ovoid t... OMIM:252900
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... OMIM:620366
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Winchester Syndrome
Kyphosis, Corneal opacity, Hirsutism OMIM:277950
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia ORPHA:1980
Megabladder, Congenital
Multiple glomerular cysts, Ventricular septal defect, Left ventricular noncompaction cardiomyopat... OMIM:618719
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... OMIM:231095
Thrombocythemia 2
Thrombocytosis OMIM:601977
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Ureterocele, Vesicoureteral reflux, Micropenis, Sparse eyebrow, Cryptorchidism, Megacystis, Blue ... OMIM:604292
Thrombocythemia 3
Thrombocytosis OMIM:614521
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Woolly Hair
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... ORPHA:170
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis, Low posterior hairline ORPHA:1450
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Sialidosis Type 2
Hepatomegaly, Skeletal muscle atrophy, Corneal opacity, Splenomegaly, Kyphosis, Flexion contractu... ORPHA:87876
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Brain-Lung-Thyroid Syndrome
Atrial septal defect, Hyperactivity, Hypospadias, Ventricular septal defect, Abnormal eating beha... ORPHA:209905
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Mucolipidosis Type Iii
Abnormal heart valve morphology, Corneal opacity, Hyperlordosis, Abnormal form of the vertebral b... ORPHA:577
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Right ventricular cardiomyopathy OMIM:610476
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Corneal opacity, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Develo... OMIM:618815
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Pancytopenia, Femur fracture, Craniosynostosis, Th... OMIM:259700
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Scoliosis, Abnormal cardiac septum morphology, Corneal opacity, Abnormal form of the vertebral bo... ORPHA:2370
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis DECIPHER:70
Familial Visceral Myopathy
Hydroureter, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Megac... ORPHA:2604
Juvenile Sialidosis Type 2
Hepatomegaly, Cataract, Corneal opacity, Abnormality of the kidney, Dysphagia, Hepatosplenomegaly... ORPHA:93399
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... ORPHA:1423
8P23.1 Duplication Syndrome
Ventricular septal defect, Highly arched eyebrow, Pulmonic stenosis, Tetralogy of Fallot, Hydrone... ORPHA:251076
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Renal hypo... OMIM:615996
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria, Cataract OMIM:619813
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... OMIM:611490
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis OMIM:619431
Diastrophic Dysplasia
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo... ORPHA:628
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... ORPHA:2756
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Slc35A2-Cdg
Osteopenia, Limb joint contracture, Increased circulating thyroglobulin level, Craniosynostosis, ... ORPHA:356961
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Compulsive behaviors, Fragile nails, Fine hair ORPHA:500166
22Q11.2 Duplication Syndrome
Ventricular septal defect, Urethral stenosis, Hydronephrosis, Hypoplastic left heart, Transpositi... ORPHA:1727
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Megacystis, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Megacystis, Polyuria OMIM:304800
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Confusion, Tremor, Schistocytosis, Elevated circulating creatinine concentration... OMIM:274150
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Neoplasm of the heart, Megacystis ORPHA:2241
Crandall Syndrome
Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphol... ORPHA:202
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Congenital Myopathy 19
Skeletal muscle atrophy, Facial hypotonia, Cryptorchidism, Renal atrophy, Congenital contracture,... OMIM:618578
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ... OMIM:614034
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Kyphosis, Astigmatism, Frontal upsweep of hair, Scoliosis, Hydronephrosis OMIM:619797
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Poems Syndrome
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Metaphyseal sclerosis, Sclerosis o... ORPHA:2905
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Tonne-Kalscheuer Syndrome
Hypospadias, Congenital diaphragmatic hernia, Concave nail, Aggressive behavior, Cryptorchidism, ... OMIM:300978
Noonan Syndrome 9
Curly hair, Hydroureter, Ventricular septal defect, Prominent corneal nerve fibers, Short neck, S... OMIM:616559
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... OMIM:607634
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Mucopolysaccharidosis, Type Vii
Short neck, Flexion contracture, Coarse hair, Anterior beaking of lumbar vertebrae, Hepatomegaly,... OMIM:253220
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Kury-Isidor Syndrome
Alopecia, Sacral dimple, Ventricular septal defect, Short neck, Astigmatism, Attention deficit hy... OMIM:619762
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Duplicated collecting system, Hypospadias, Corneal o... OMIM:301056
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Increased urinary disaccharide excretion, Irregular verteb... OMIM:271630
Visceral Myopathy 1
Megacystis, Hydronephrosis, Urinary retention, Dysphagia, Vesicoureteral reflux, Pancreatitis OMIM:155310
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Autoimmune Hypoparathyroidism
Increased bone mineral density, Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalce... ORPHA:36913
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Ritscher-Schinzel Syndrome 1
Hypospadias, Ventricular septal defect, Hemivertebrae, Double outlet right ventricle, Low posteri... OMIM:220210
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Cryptorchidism, Low posterior hairline, Joint contracture of the hand,... OMIM:179613
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... OMIM:215045
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbuminemia, Thrombocytosis, Hypoprote... OMIM:226300
Distal Duplication 6P
Abnormal hair quantity, Sacral dimple, Cataract, Short neck, Abnormal eyelash morphology, Renal h... ORPHA:1745
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... OMIM:239000
Koolen-De Vries Syndrome
Ureteral duplication, Hypopigmentation of hair, Cataract, Hypospadias, Bicuspid aortic valve, Ove... ORPHA:96169
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Trisomy 17P
Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Cataract, Short neck, Urethral sten... ORPHA:261290
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... OMIM:612576
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Congenital Rubella Syndrome
Hepatomegaly, Cataract, Corneal opacity, Ventricular septal defect, Thrombocytopenia, Splenomegal... ORPHA:290
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... OMIM:614856
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Enuresis, Self-injurious behavior, Compulsive behaviors, Attention deficit h... OMIM:613670
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Highly arched eyebrow, Cryptorchidism, Repetitive compulsive behavior, Kyphosis, A... ORPHA:352490
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the pan... ORPHA:1926
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Osteoporosis, Rickets, Depression, Iron deficiency anemia, Hypocalcemia, Throm... OMIM:212750
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis, Pulmonic stenosis OMIM:264140
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Carvajal Syndrome
Woolly hair, Dilated cardiomyopathy ORPHA:65282
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Abnormal vertebral morphology, Attention deficit hyperactivity di... OMIM:618709
Noonan Syndrome 4
Ureteral duplication, Curly hair, Ventricular septal defect, Short neck, Sparse eyebrow, Cryptorc... OMIM:610733
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Cryptorchidism, Abnormal h... ORPHA:1867
Visceral Myopathy 2
Megacystis, Dysphagia OMIM:619350
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... OMIM:613845
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... ORPHA:824
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... ORPHA:89936
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenici... OMIM:619351
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate ex... OMIM:607015
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo... ORPHA:573
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Abnorm... ORPHA:35173
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... OMIM:620076
Gómez-López-Hernández Syndrome
Toenail dysplasia, Alopecia of scalp, Corneal opacity ORPHA:1532
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Micrognathia, Coxa valga, Flat acetabular roof, Flattened epiphys... ORPHA:163649
Morquio Syndrome C
Platyspondyly, Corneal opacity OMIM:252300
Fucosidosis
Hepatomegaly, Decreased muscle mass, Corneal opacity, Cardiomegaly, Kyphosis, Abnormality of the ... ORPHA:349
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia ORPHA:37748
Stuve-Wiedemann Syndrome 1
Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx... OMIM:601559
Erythrokeratodermia Variabilis
Alopecia, Cataract, Corneal opacity, Abnormal hair morphology, Generalized hirsutism, Abnormal te... ORPHA:317
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Cataract, Ventricular septal defect, Elevated circulating aspartate aminotransferas... OMIM:614876
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Confusion, ... ORPHA:79444
Hurler Syndrome
Hepatomegaly, Corneal opacity, Short neck, Heparan sulfate excretion in urine, Splenomegaly, Hypo... OMIM:607014
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Short neck, Abnormality of the spleen,... ORPHA:1834
Mucopolysaccharidosis-Plus Syndrome
Short neck, Synophrys, Flexion contracture, Low anterior hairline, Leukopenia, Coarse hair, Macro... OMIM:617303
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypoplastic vertebral b... OMIM:252940
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphys... ORPHA:94089
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Cataract, Hypospadias, Corneal opacity, Ventricular s... ORPHA:912
Pseudohypoparathyroidism Type 1A
Short metatarsal, Reduced bone mineral density, Choreoathetosis, Hypocalcemia, Hypocalcemic tetan... ORPHA:79443
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Alpha-Mannosidosis
Hepatomegaly, Cataract, Corneal opacity, Short neck, Splenomegaly, Kyphosis, Macroglossia, Scoliosis ORPHA:61
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Dermoids Of Cornea
Corneal opacity OMIM:304730
Sialidosis Type 1
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Corneal opacity, Catar... ORPHA:812
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Back pain, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur... OMIM:143400
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Ventricular septal defect, Sparse eyelashes, Concave nail, Abnormality of hair text... OMIM:234050
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Joubert Syndrome 37
Hepatomegaly, Lumbar hyperlordosis, Cryptorchidism, Hydronephrosis, Sparse hair, Micropenis, Decr... OMIM:619185
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnormal repe... OMIM:239500
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Tremor, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbum... OMIM:212065
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Transketolase Deficiency
Increased level of ribose in urine, Hepatomegaly, Cataract, Ventricular septal defect, Abnormal r... ORPHA:488618
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... OMIM:144750
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Leuk... ORPHA:94093
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Naxos Disease
Curly hair, Sparse scalp hair, Abnormality of hair texture, Cardiomyopathy, Woolly hair ORPHA:34217
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Craniofrontonasal Dysplasia
Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair textur... ORPHA:1520
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria ORPHA:79238
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Micrognathia, Thrombo... OMIM:259720
Weaver Syndrome
Deep-set nails, Hypoplasia of penis, Abnormal fingernail morphology, Thin nail, Camptodactyly of ... ORPHA:3447
3C Syndrome
Hypoplasia of penis, Hypospadias, Ventricular septal defect, Abnormal mitral valve morphology, Sh... ORPHA:7
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Hypercalcemia, Craniosynostosis, Abnormal dental enamel morphology, Progress... ORPHA:251004
Trisomy 13
Cataract, Ventricular septal defect, Abnormal eyelash morphology, Cryptorchidism, Kyphosis, Abnor... ORPHA:3378
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Corneal opacity, Ventricular septal defect, Dextrocardia, A... ORPHA:99776
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Back pain, Aggressive behavio... ORPHA:905
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, ... ORPHA:281090
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Dextrocardia, Frontal balding, Impulsivity, Short neck, Cryptorchidism... ORPHA:96092
Fanconi Anemia, Complementation Group O
Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology, Small then... OMIM:613390
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Joint stiffness, Leukopenia, Thrombocytosi... OMIM:615934
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Homocystinuria, Kyphoscoliosis, Ectopia lentis, Methioninuria, Mitral valve prolaps... OMIM:236200
Cat-Eye Syndrome
Iris coloboma, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Hypochromic ... ORPHA:3240
Koolen-De Vries Syndrome
Atrial septal defect, Recurrent urinary tract infections, Cataract, Bicuspid aortic valve, Ventri... OMIM:610443
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Cataract, Megaloblastic anemia, Cardiomyop... OMIM:222300
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Dextrocardia, Urethral atresia, Abnormality of the vertebral column, Transposition... OMIM:314390
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Clouston Syndrome
Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e... OMIM:129500
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cataract, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Cystic renal d... OMIM:613730
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Micrognathia, Absent frontal sinuses, Abn... OMIM:224300
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Short neck, Cryptorchidism, Sp... OMIM:235255
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a... ORPHA:210122
X-Linked Intellectual Disability, Schimke Type
Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, ... ORPHA:85285
Microcephaly-Micromelia Syndrome
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... OMIM:251230
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Hematuria, Posterior embryotoxon, Iris coloboma ORPHA:1473
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Short neck, Cryptorchidism, Splenomegaly, Pancreatic lym... ORPHA:1655
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Brittle hair, Sparse eyebrow, Developmental cataract, Hydrocele testis, Hypertrophi... OMIM:618810
Urofacial Syndrome 1
Recurrent urinary tract infections, Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruc... OMIM:236730
Congenital Sialidosis Type 2
Hepatomegaly, Cataract, Corneal opacity, Abnormality of the kidney, Hepatosplenomegaly, Developme... ORPHA:93400
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Abnormal ... OMIM:618494
Hurler Syndrome
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Abnormal heart valve morphology, Campt... ORPHA:93473
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Congenital diaphr... ORPHA:887
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... OMIM:307800
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Gm1 Gangliosidosis
Corneal opacity, Ventricular septal defect, Camptodactyly of finger, Hyperlordosis, Splenomegaly,... ORPHA:354
Suleiman-El-Hattab Syndrome
Thick eyebrow, Ventricular septal defect, Highly arched eyebrow, Cryptorchidism, Synophrys, Atria... OMIM:618950
Distal Triplication 15Q
Corneal dystrophy, Abnormality of the kidney, Kyphosis, Flexion contracture, Dilatation of the re... ORPHA:314588
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia, Cataract, Sparse eyelashes, Skeletal muscle atrophy, Sparse eyebrow, Nail... OMIM:615704
Chops Syndrome
Curly hair, Cataract, Ventricular septal defect, Thick hair, Cryptorchidism, Splenomegaly, Synoph... OMIM:616368
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair, Abnormal cardiac septum morph... ORPHA:3079
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Braddock-Carey Syndrome 1
Curly hair, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Hyper... OMIM:619980
Hereditary Mucoepithelial Dysplasia
Alopecia, Cataract, Corneal dystrophy, Fine hair, Hematuria, Abnormality of the bladder, Sparse hair ORPHA:1839
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Alopecia, Ventricular septal defect, Sclerocornea, Cryptorchidism, Hypoplas... OMIM:613001
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Ectopia lentis, Increased urinary sulfite level, Fine hair, Agitation, Decrease... OMIM:272300
Schimke Immunoosseous Dysplasia
Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Coarse hair, Thoracic kyphosis,... OMIM:242900
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Corneal opacity, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Spa... OMIM:602400
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Corneal opacity, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid ... OMIM:253010
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Fine hair, Mitral valve prolapse, Sparse hair OMIM:615278
Immunodeficiency 92
Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop... OMIM:619652
Hawkinsinuria
Sparse hair, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Fine hair ORPHA:2118
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Cryptorchidism, 3-Methylglutaconic aciduria, Scoliosis, Hypertrophic c... ORPHA:496790
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Multiple Sulfatase Deficiency
Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Coarse hair, Mucopolysacchariduria, Thick ... ORPHA:585
Mucopolysaccharidosis Type 3
Adenoiditis, Cardiomegaly, Synophrys, Flexion contracture, Abnormal form of the vertebral bodies,... ORPHA:581
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Depress... ORPHA:324636
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Abnormal heart morphology, Vertebral segmentation defect, Scoliosis, Hydronephrosis ORPHA:531151
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Hypocal... OMIM:607143
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... ORPHA:77297
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Joint contracture, Cataract, Abnormal repetitive mannerisms, Scoliosis OMIM:617393
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec... ORPHA:1782
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608636
Carpenter Syndrome 1
Sacral dimple, Hydroureter, Ventricular septal defect, Short neck, Cryptorchidism, Spina bifida o... OMIM:201000
Cystinosis
Renal insufficiency, Proteinuria, Corneal opacity, Portal hypertension, Renal tubular dysfunction... ORPHA:213
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Bicuspid aortic valve, Ventricular septal ... ORPHA:261494
Trisomy 20P
Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Coarse hair, Vertebral ... ORPHA:261318
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increased vertebral height, Renal hypoplasia, Fine... OMIM:616817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Low anterior hairline, Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Corneal opacity, Congenital diaphragmatic hernia, Stage 5 chron... OMIM:166300
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Image Syndrome
Cryptorchidism, Hypospadias, Hydronephrosis ORPHA:85173
Scheie Syndrome
Aortic valve stenosis, Spondylolisthesis, Corneal opacity, Short neck OMIM:607016
Isolated Polycystic Liver Disease
Back pain, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts ORPHA:2924
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia, Micrognathia ORPHA:1237
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract, Distal amyotrophy, Scoliosis, Hypertrophic cardiomyopathy OMIM:617183
Cardiofaciocutaneous Syndrome 3
Curly hair, Ventricular septal defect, Short neck, Pulmonic stenosis, Scoliosis, Atrial septal de... OMIM:615279
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Cataract, Sparse eyelashes, Ventricular septal hypertrophy, Abnormal ... OMIM:615280
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Cardiomegaly, Hypoplastic toenails, Increased muscle lipid content, Knee fl... OMIM:608836
Syndromic Diarrhea
Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Hepatic fibrosis, Hypoplasia of th... ORPHA:84064
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom... OMIM:620010
Mucopolysaccharidosis Type 1
Corneal opacity, Abnormality of the tonsils, Abnormal heart valve morphology, Splenomegaly, Low a... ORPHA:579
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Aggressive behavior, Hyperlordosis, Mitral valve prolapse, Self-injurious behavior, C... OMIM:300986
Infantile Sialic Acid Storage Disease
Hepatomegaly, Fair hair, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, ... OMIM:269920
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Hyperactivity, Kyphoscoliosis, Aggressive behavior, Sparse eyebrow, Hyposegmentation ... OMIM:620075
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Smith-Magenis Syndrome
Hyperactivity, Synophrys, Abnormal renal morphology, Self hugging, Head-banging, Abnormal heart m... OMIM:182290
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Abnormal heart valve morphology, Cervical kyphosis, Kyphoscoliosis, Crypto... ORPHA:2953
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Ventricular septal defect, Renal hypoplasia, Coarse hair, Nail dystrophy,... ORPHA:75389
Trichohepatoenteric Syndrome 2
Hepatomegaly, Brittle hair, Chronic hepatitis, Uncombable hair, Cirrhosis, Sparse hair, Woolly ha... OMIM:614602
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... ORPHA:2228
Zaki Syndrome
Sparse scalp hair, Sacral dimple, Renal agenesis, Congenital diaphragmatic hernia, Hypoplastic to... OMIM:619648
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Portal fibro... ORPHA:369
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Skeletal muscle atrophy, Elevated circulating aspartate aminotr... OMIM:608779
Pycnodysostosis
Joint laxity, Increased bone mineral density, Rhizomelia, Micrognathia, Lower limb asymmetry, Gen... ORPHA:763
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hyperuricemia, Hyperammonemia ORPHA:134
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Ventricular septal defect, Cardiomegaly, Short neck, Flexion contracture, Hypertroph... OMIM:616897
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Cryptorchidism, Fine hair ORPHA:1174
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Ventricular septal defect, Unilateral renal agenesis, Aggressive behavior, Cryptor... ORPHA:3306
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Elbow flexion contracture, Small nail, Abnormal repetitive ma... OMIM:619470
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Cataract, Camptodactyly of finger, Renal hypoplasia/aplasia, Hyperlordo... ORPHA:568
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia OMIM:615085
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Camptodactyly of finger, Abnormal hair pattern, Highly arched eyebrow, Short... ORPHA:2083
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Johanson-Blizzard Syndrome
Hypoplasia of penis, Alopecia, Hypospadias, Dextrocardia, Abnormal hair pattern, Abnormality of t... ORPHA:2315
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Hypospadias, Ventricular septal defect, Kyphosis, Microcornea, Sparse hair, Scoliosis, ... OMIM:616449
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... OMIM:243150
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Pleural lymphangiectasia, Pericardial lymphangiectasia, Ventricular septal ... OMIM:235510
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Synophrys, Fine hair, Nephrotic syndrome, Glomerula... OMIM:619428
Trichohepatoenteric Syndrome 1
Brittle hair, Hepatic fibrosis, Sparse hair, Hepatomegaly, Hypospadias, Increased mean platelet v... OMIM:222470
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Dry hair, Flexion contracture, Microcornea, Premature graying of hair, L... ORPHA:90324
19Q13.11 Microdeletion Syndrome
Cataract, Ventricular septal defect, Hypospadias, Supernumerary nipple, Cryptorchidism, Fine hair... ORPHA:217346
Noonan Syndrome 8
Atrial septal defect, Curly hair, Ventricular septal defect, Short neck, Cryptorchidism, Pulmonic... OMIM:615355
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Elevated circulating aspa... OMIM:619048
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Hyperlordosis,... OMIM:253000
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Sacral dimple, Highly arched eyebrow, Trichiasis, Neutropenia, Renal hypopl... OMIM:618460
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... OMIM:600081
Lowry-Maclean Syndrome
Hypospadias, Corneal opacity, Congenital diaphragmatic hernia, Bilateral cryptorchidism, Abnormal... ORPHA:2409
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Short neck, Cryptorchidism, Low post... OMIM:613224
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Abnormal repetitive mannerisms, Developmental cataract, Self-injurious... OMIM:617044
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Neutrophilia, Swelling of proximal interphalangeal joints, Eosinophilia, Ankle swe... ORPHA:3260
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Hepatomegaly, Abnormal heart valve morphology, Short neck, Splenomeg... OMIM:230500
Mitochondrial Complex I Deficiency, Nuclear Type 18
Wide anterior fontanel, Hydroureter, Hydronephrosis OMIM:618240
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Attention deficit hyperacti... OMIM:618504
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal hair morphology, Fi... ORPHA:634
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrom... OMIM:215250
Marden-Walker Syndrome
Skeletal muscle atrophy, Epispadias, Abnormal form of the vertebral bodies, Abnormal penis morpho... ORPHA:2461
Costello Syndrome
Keratoconus, Deep-set nails, Ventricular septal defect, Abnormal fingernail morphology, Concave n... ORPHA:3071
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... OMIM:615285
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Highly arched eyebrow, Synophry... OMIM:618161
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial ... OMIM:616300
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Splenomegaly, Hepatiti... ORPHA:584
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia OMIM:617862
Microphthalmia, Syndromic 9
Renal malrotation, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia... OMIM:601186
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... OMIM:620306
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Slow-growing hair, Short neck, Abnormal hair morphology, Cryptorchidism, Kyp... ORPHA:3082
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu... OMIM:256550
6P22 Microdeletion Syndrome
Hydronephrosis, Short neck ORPHA:251046
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Synophrys, Abnormal repetitive mannerisms OMIM:615541
Mucolipidosis Iv
Abnormal abdomen morphology, Corneal opacity, Opacification of the corneal stroma OMIM:252650
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Arthrogryposis multiplex congenita, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Hyperammonemia, Leukopenia, Hyperuricemia, Thrombocytosis, Anemia ORPHA:20
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Hyperactivity, Highly arched eyebrow, Cryptorchidism, Synophrys, Paroxysmal ... ORPHA:228402
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Hypospadias, Hyperopic astigmatism, Fine hair, Astigmatism, Tics, Inappropriate la... ORPHA:363686
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Hyperthreoninuria, Eye poking OMIM:204000
Brunet-Wagner Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, Low anterior hairline, Thin eyebrow OMIM:619690
Tangier Disease
Hepatomegaly, Splenomegaly, Facial diplegia, Distal amyotrophy, Nail dystrophy, Nail dysplasia, O... OMIM:205400
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... OMIM:301068
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirr... OMIM:613313
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Dextrocardia, Thoracolumbar scoliosis, Ureteral agenesis, Co... ORPHA:2437
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Cryptorchidism, Long eyelashes, Horizontal eyebrow, Attention deficit ... OMIM:609757
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis, Small nail OMIM:235760
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Short ... OMIM:258315
Interstitial Lung And Liver Disease
Clubbing, Intraalveolar phospholipid accumulation, Hyperammonemia, Thrombocytosis, Anemia OMIM:615486
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cataract, Eosinophilia, Cor pulmonale, Keratoconjunctivitis, Hematuria, Coarse hair, Na... OMIM:158310
Fg Syndrome 3
Hyperactivity, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture OMIM:300406
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Kyphoscoliosis, Ante... OMIM:253200
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Endocardial fibrosis, Left ... OMIM:612158
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity, Increased intervertebral space, Thoracic platyspondyly, Beaking of vertebral bod... OMIM:618961
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Diamond-Blackfan Anemia 1
11 pairs of ribs, Macrocytic anemia, Congenital hypoplastic anemia, Micrognathia, Short thumb, Ab... OMIM:105650
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Genu v... OMIM:131300
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:264700
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se... OMIM:608776
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture of the 5th finger... ORPHA:1883
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, P... ORPHA:79312
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... OMIM:615688
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Macr... ORPHA:583
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Arthrogryposis multip... OMIM:607598
Orthostatic Hypotension 1
Hypomagnesemia, Brachydactyly, Joint hypermobility, Increased blood urea nitrogen OMIM:223360
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Coxa vara, Wrist fl... ORPHA:800
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Kyphosis, Platyspondyly, Scoliosis, Opacification of the corneal stroma,... OMIM:230650
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Highly arched eyebrow, Cryptorchid... ORPHA:500159
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... OMIM:618476
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp... OMIM:301045
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of the cervical spine, Flexion contracture of finger, Hypospadias, Corneal opacity, U... ORPHA:464311
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Conjun... ORPHA:2890
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Scapular winging, Hydroureter, Interphalangeal joint contracture of fing... OMIM:305620
Microcephaly 26, Primary, Autosomal Dominant
Prominent eyelashes, Scoliosis, Patent foramen ovale, Hydronephrosis, Stereotypical hand wringing OMIM:619179
Blepharophimosis-Impaired Intellectual Development Syndrome
Sparse scalp hair, Recurrent urinary tract infections, Hypospadias, Sparse eyelashes, Highly arch... OMIM:619293
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Corneal opacity, Hyperlordosis, Short neck, Kyphosis, Spinal can... ORPHA:582