Gene Summary

Name:
cerberus 1, DAN family BMP antagonist
Synonyms:
cer-1,  Cerl,  Cerr1,  Cerl1,  Cerberus-like

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal spleen morphology Cer1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Cer1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Cer1em1(IMPC)Ccpcz HOM Early adult 0.00
kyphosis Cer1em1(IMPC)Ccpcz HOM   Early adult 8.92×10-05
abnormal digit morphology Cer1em1(IMPC)Ccpcz HOM   Early adult 1.86×10-06
abnormal heart morphology Cer1em1(IMPC)Ccpcz HOM Early adult 0.00
small testis Cer1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Cer1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebrae morphology Cer1em1(IMPC)Ccpcz HOM Early adult 3.10×10-07
abnormal vertebral arch morphology Cer1em1(IMPC)Ccpcz HOM   Early adult 1.12×10-07
abnormal testis morphology Cer1em1(IMPC)Ccpcz HOM Early adult 0.00
vertebral transformation Cer1em1(IMPC)Ccpcz HOM Early adult 2.83×10-06
enlarged heart Cer1em1(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

Human diseases caused by Cer1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Cer1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Abnormal form of the vert... ORPHA:1802
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior ORPHA:356996
Chorea, Benign Hereditary
Anxiety, Gait disturbance OMIM:118700
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the ulna, Abnormality of the humeroulnar joint, Apl... ORPHA:1570
Brachyolmia Type 1, Hobaek Type
Short neck, Kyphosis, Short femoral neck, Intervertebral space narrowing, Back pain, Sclerotic fo... OMIM:271530
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones, Ovoid vertebral bodies, Kyphosis, Abnorma... ORPHA:40
Parastremmatic Dwarfism
Short neck, Genu valgum, Kyphosis, Scoliosis OMIM:168400
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Clinodactyly of the 5th finger, Short thumb, Camptodactyly, Overlapping toe OMIM:618453
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Atrial sept... ORPHA:1354
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Cardiomegaly, Macroorchidism OMIM:300886
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Shortening of all distal phalanges of the fingers, Widely spa... OMIM:301900
Spondylometaphyseal Dysplasia, Axial
Short femoral neck, Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Platyspo... OMIM:602271
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Emotional lability, Obesity OMIM:309585
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Abnormality of the ovary, Cubitus valgus, Hypogonadism, Decreased testicular size ORPHA:1875
Congenital Amegakaryocytic Thrombocytopenia
Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Abnormal hemoglobin, Thromb... ORPHA:3319
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Huntington Disease-Like 2
Anxiety, Bradykinesia, Apathy, Irritability, Depression, Weight loss OMIM:606438
Lower Limb Malformation-Hypospadias Syndrome
Short neck, Sacral dimple, Abnormality of the spleen, Abnormality of tibia morphology, Hypospadias ORPHA:2487
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Arachnodactyly, Scoliosis, Abnormal testis morphology, Bilateral single transverse palm... ORPHA:1548
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Kyphosis, Abnorm... ORPHA:3344
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short neck, Short femoral neck, Splen... OMIM:602557
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Adiposis Dolorosa
Anxiety, Depression, Obesity OMIM:103200
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Flat capital femoral epiphysis, Genu varum, Thoracic kyphosis, Intervertebral space narrowing, Br... OMIM:609223
Geniospasm 1
Anxiety OMIM:190100
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Ethanolaminosis
Cardiomegaly OMIM:227150
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Brachydactyly, Bowing of the legs, Premature pubarche, Platyspondyly, Secondary amenorrhea, Lower... OMIM:612847
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Spina bifida occulta at S1, Finger syndactyly, Bifid ... OMIM:102510
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Cryptorchidism, Abno... ORPHA:65759
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Shuffling gait, Inertia, Anxiety, Bradykinesia, Inappropriate behav... ORPHA:412066
Sandhoff Disease
Kyphosis, Splenomegaly, Hepatomegaly ORPHA:796
Fetal Akinesia Deformation Sequence 4
Short neck, Kyphosis, Cryptorchidism, Rocker bottom foot, Camptodactyly OMIM:618393
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Kyphosis, Short neck, Hyperlordosis, Scoliosis, Spinal rigidity OMIM:300718
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossificatio... OMIM:609813
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Splenomegaly, Abnormal vertebral morphology, Hepatomegaly, Spina... ORPHA:93476
Ruvalcaba Syndrome
Kyphosis, Short palm, Cryptorchidism, Short metacarpal, Short phalanx of finger, Micromelia, Limi... OMIM:180870
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Metatropic Dysplasia
Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral metaphysis, Con... OMIM:156530
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Abnormality of the metaphysis, Platyspondyly, Increased vertebral height ORPHA:93304
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Ataxia, Depression, Difficulty walking OMIM:619191
Winchester Syndrome
Carpal osteolysis, Broad metacarpals, Osteolysis involving tarsal bones, Kyphosis OMIM:277950
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Spondyloepiphyseal Dysplasia, Stanescu Type
Coxa valga, Beaking of vertebral bodies, Platyspondyly, Kyphoscoliosis, Hypoplastic ilia OMIM:616583
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormality of the vertebral column, Abnormal ilium morphology, Coronal cleft vertebr... ORPHA:93314
Hip Dysplasia, Beukes Type
Kyphosis, Abnormality of the epiphysis of the femoral head, Abnormality of epiphysis morphology, ... ORPHA:2114
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Hypertrophic cardiomyopathy, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis OMIM:618234
Dystonia 12
Anxiety, Bradykinesia, Unsteady gait, Emotional lability, Depression OMIM:128235
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Widow'S Peak Syndrome
Narrow iliac wing, Kyphosis, Cryptorchidism, Shawl scrotum, Abnormality of the hand, Arthralgia o... OMIM:314570
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Scoliosis, Abnormality of femoral epiphysis, Irregular carpal ... ORPHA:750
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Cryptorchidism, Adducted thumb, Scoliosis, Talipes equinovarus OMIM:618484
Intellectual Developmental Disorder With Autism And Macrocephaly
Anxiety, Tall stature, Overweight OMIM:615032
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Bradykinesia OMIM:618878
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Prolonged neonatal jaundice, Tapered finger, Kyphosis OMIM:618512
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Elbow flexion contracture, Abnormality of epiphysis morphology, Radioulnar dislocation, Dislocate... ORPHA:93359
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Brachydactyly, Kyphosis, Hyperinsulinemia, Polycystic ovaries, Cryptorchidism, Hyperlordosis, Sec... ORPHA:3085
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Gait disturbance ORPHA:436141
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Talipes equinovarus, Kyphosis, Congenital bilateral hip dislocation ORPHA:85288
Roifman Syndrome
Brachydactyly, Eosinophilia, Single transverse palmar crease, Short metacarpal, Clinodactyly of t... OMIM:616651
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Bilateral coxa valga, Abnormal ilium morphology, Abnormal vertebral morphology, Platyspondyly ORPHA:163665
Mend Syndrome
Kyphosis, 2-3 toe syndactyly, Cryptorchidism, Overlapping fingers, Polydactyly, Long fingers, Aor... OMIM:300960
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis, Small hand, Talipes equinovarus, Short foot, Hip dislocation OMIM:300434
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Kyphoscoliosis, Cutaneous finger syndactyly, Duplication of metatarsal... OMIM:600384
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Abnormal aggressive, impulsive or violent behavior, Obesity, Aggressive behavior,... ORPHA:3077
Hypochondroplasia
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Cantu Syndrome
Congenital hypertrophy of left ventricle, Coxa valga, Short neck, Broad first metatarsal, Ovoid v... OMIM:239850
Diastrophic Dysplasia
Bowing of the long bones, Symphalangism affecting the phalanges of the hand, Kyphosis, Abnormal f... ORPHA:628
Scholte Syndrome
Acromicria, Patellar hypoplasia, Micropenis, Small hand, Kyphoscoliosis, Short foot, Decreased te... OMIM:300977
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Kyphosis, Delayed ossification of carpal bones OMIM:618392
Urban-Rogers-Meyer Syndrome
Brachydactyly, Toe syndactyly, Short neck, Kyphosis, Abnormality of epiphysis morphology, Cryptor... ORPHA:3409
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Cardiofacioneurodevelopmental Syndrome
Brachydactyly, Kyphosis, Cryptorchidism, Clinodactyly of the 5th finger, Pulmonic stenosis, Abdom... OMIM:619123
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Short neck, Short femoral neck, Intervertebral space narrowing, Back pai... OMIM:271630
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Clinodactyly, Single transverse palmar crease, Short neck, Kyphosis, Cryptorchidism, Scoliosis ORPHA:178148
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Short neck, Kyphosis, Abnormality of epiphysis morphology, Abnormal form of the ve... ORPHA:3098
Congenital Arthrogryposis With Anterior Horn Cell Disease
Single transverse palmar crease, Short neck, Kyphosis, Cryptorchidism, Rocker bottom foot, Scolio... OMIM:611890
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Thoracic scoliosis, Short neck, Overlapping fingers, Adducted thumb, Ventricula... OMIM:617022
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Aggressive behavior ORPHA:329249
Holt-Oram Syndrome
Absent thumb, Finger syndactyly, Phocomelia, Kyphosis, Atrioventricular canal defect, Atrial sept... ORPHA:392
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Elbow flexion contracture, Hyperlordosis, Scoliosis, Talipes equinovarus OMIM:600175
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Spondyloperipheral Dysplasia
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... OMIM:271700
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Short long bone, Abnormality of t... ORPHA:93316
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Genitopalatocardiac Syndrome
Brachydactyly, Kyphosis, Gonadal dysgenesis, male, Abnormality of the gallbladder, Cryptorchidism... ORPHA:2075
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Splenomega... ORPHA:417
Metatropic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Micromelia, Scol... ORPHA:2635
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Self-injurious behavior, Anxiety, Obesity, Aggressive behavior OMIM:613670
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Platys... OMIM:230650
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy... OMIM:607685
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Foot polydactyly, Phocomelia, Aplasia of the thymus, Vertebral segmentation defect, Split hand ORPHA:3004
Sillence Syndrome
Abnormal distal phalanx morphology of finger, Aplasia of the middle phalanx of the hand, Abnormal... ORPHA:3168
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Overlapping fingers, Congenital hip dislocation, Scoliosis, Hand clenching, Talipes equ... OMIM:618291
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Atlantoaxial instability, Kyphosis, Sh... OMIM:607326
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Cardiomegaly, Amenorrhea, Azoospermia, Splenomegaly, Hepatomegaly,... OMIM:235200
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Azoospermia, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volum... OMIM:615234
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased fertility, Small scrotum, Short neck, Abnormality of the humeroulnar joint, Abnormal fo... ORPHA:2234
Bethlem Myopathy 2
Scoliosis, Scapular winging, Kyphosis, Hip dislocation OMIM:616471
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Tapered finger, Thoracolumbar scoliosis, Platyspondyly, Short finger, Hyperextensibilit... OMIM:313420
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiom... OMIM:252920
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Bowing of the legs, Metaphyseal irregularity, Hepatosplenomegaly, Delayed epiphyseal ... ORPHA:93352
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Dysspondyloenchondromatosis
Abnormality of ulnar metaphysis, Abnormality of fibula morphology, Platyspondyly, Metaphyseal enc... ORPHA:85198
Ruvalcaba Syndrome
Brachydactyly, Synostosis of carpal bones, Kyphosis, Cryptorchidism, Clinodactyly of the 5th fing... ORPHA:3121
Early-Onset Schizophrenia
Suicidal ideation, Unhappy demeanor, Anxiety, Anhedonia, Impairment in personality functioning, E... ORPHA:96369
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Secondary amenorrhea, Anemia, Cardiomyopathy, Cirrhosis, Hepatic fibr... OMIM:613313
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Sandal gap, Broad femoral neck, Scoliosis, Short 1st metacarp... OMIM:251450
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Abnormality of the epiphysis of the femoral head, Cholestasis, Hypoplastic ver... OMIM:618641
Arthrogryposis, Distal, Type 4
Hypoplastic labia majora, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Kypho... OMIM:609128
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Joint contracture of the hand, Broad palm, Congenital hip dislocation, Scoliosis, Cardi... OMIM:300280
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Masa Syndrome
Adducted thumb, Talipes equinovarus, Hyperlordosis, Kyphosis OMIM:303350
Mucopolysaccharidosis Type 6
Short neck, Ovoid vertebral bodies, Kyphosis, Abnormal heart valve morphology, Splenomegaly, Abno... ORPHA:583
Clark-Baraitser syndrome
Kyphosis, Short palm, Broad palm, Tapered finger, Scoliosis, Macroorchidism, Genu valgum OMIM:300602
11P15.4 Microduplication Syndrome
Obesity, Aggressive behavior ORPHA:300305
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Scoliosis OMIM:618654
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Brachyolmia Type 3
Clinodactyly, Short neck, Kyphosis, Short femoral neck, Proximal femoral metaphyseal irregularity... OMIM:113500
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Kyphosis, Hypoplastic iliac wing, Short distal phalanx of finger, Scoliosis, Hip d... ORPHA:1858
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Spondylometaphyseal Dysplasia, Kozlowski Type
Carpal bone hypoplasia, Halberd-shaped pelvis, Delayed ossification of carpal bones, Irregular ca... OMIM:184252
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Scoliosis, Delayed puberty, Kyphosis ORPHA:2598
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Toe syndactyly, Short neck, Metatarsus valgus, Abnormality of epiphysis morphology, Kyphosis, Cry... ORPHA:3082
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Abnormal ... ORPHA:337
Fucosidosis
Absent/hypoplastic coccyx, Coxa valga, Vacuolated lymphocytes, Anterior beaking of lumbar vertebr... OMIM:230000
Mucopolysaccharidosis, Type Vi
Metaphyseal irregularity, Ovoid vertebral bodies, Abnormal heart valve morphology, Flared iliac w... OMIM:253200
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Tapered finger, Large hands, Kyphosis ORPHA:276630
Holt-Oram Syndrome
Small thenar eminence, Aplasia of the ulna, Hypoplastic left heart, Ventricular septal defect, Ap... OMIM:142900
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia, Sple... OMIM:602390
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Clinodactyly, Kyphosis, Triphalangeal thumb, Absent... OMIM:618658
Mucopolysaccharidosis, Type Iva
Coxa valga, Ovoid vertebral bodies, Kyphosis, Abnormal heart valve morphology, Cervical subluxati... OMIM:253000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Aarskog-Scott Syndrome
Clinodactyly, Cryptorchidism, Elevated circulating luteinizing hormone level, Broad palm, Scolios... OMIM:305400
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... OMIM:112350
Schaaf-Yang Syndrome
Brachydactyly, Clinodactyly, Kyphosis, Cryptorchidism, Micropenis, Rocker bottom foot, Tapered fi... OMIM:615547
Opsismodysplasia
Brachydactyly, Hypoplastic ischia, Hypoplastic pubic bone, Abnormality of epiphysis morphology, H... ORPHA:2746
Acrodysplasia Scoliosis
Brachydactyly, Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Cardiomegaly, Aortic valve stenosis, Abnormal atrioventricular valve m... ORPHA:324410
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Spondylitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatom... OMIM:619375
Autism Spectrum Disorder Due To Auts2 Deficiency
Decreased palmar creases, Kyphosis, Cryptorchidism, Atrial septal defect, Joint contracture of th... ORPHA:352490
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Shashi-Pena Syndrome
Atrial septal defect, Deep palmar crease, Kyphosis, Scoliosis OMIM:617190
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Anxiety, Obesity OMIM:618725
Mucolipidosis Iii Gamma
Flat capital femoral epiphysis, Short neck, Kyphosis, Flared iliac wing, Hyperlordosis, Scoliosis... OMIM:252605
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormality of the vertebral column, Enlarged kidney, Absent radius, Hand polydactyly, Abnormal v... OMIM:314390
Atkin-Flaitz Syndrome
Kyphosis, Short palm, Broad palm, Tapered finger, Scoliosis, Macroorchidism, Genu valgum OMIM:300431
Kaposiform Lymphangiomatosis
Fractures of the long bones, Abnormal pelvis bone morphology, Lymphangioma, Anemia, Thrombocytope... ORPHA:464329
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis, Talipes equinovarus, Hip dislocation OMIM:616756
Becker Nevus Syndrome
Upper limb asymmetry, Kyphosis, Hypoplastic labia minora, Supernumerary nipple, Micromelia, Scoli... ORPHA:64755
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Sclerotic vertebral endplates, Reticulocy... OMIM:611490
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Proteus Syndrome
Kyphoscoliosis, Spinal canal stenosis, Splenomegaly, Lymphangioma OMIM:176920
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Broad palm, Hypoplastic il... OMIM:223800
Spondyloepiphyseal Dysplasia Tarda
Increased arm span, Abnormality of the tibial plateaux, Scoliosis, Decreased cervical spine mobil... ORPHA:93284
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Splenomegaly, Hepatomegaly, Hypogonadism OMIM:608540
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Short neck, Kyphosis, Short femoral neck, Platyspondyly, Hypoplastic iliac w... OMIM:313400
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis, Distal upper limb amyotrophy ORPHA:101075
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Alpha-Mannosidosis
Bowing of the long bones, Hypoplastic inferior ilia, Short neck, Kyphosis, Splenomegaly, Hepatome... ORPHA:61
Progressive Pseudorheumatoid Dysplasia
Genu varum, Flattened epiphysis, Enlargement of the proximal femoral epiphysis, Joint contracture... OMIM:208230
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Verloove Vanhorick-Brubakk Syndrome
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral b... ORPHA:3429
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Abnormal morpholo... ORPHA:2311
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Short neck, Kyphosis, Hypoplastic vertebral bodies, Vacuolated lymphocyte... OMIM:230500
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Vertebral fusion, Abnormality of the odontoid process, Ky... OMIM:277300
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypoplastic ischia, Short neck, Dysplastic sacrum, Squared iliac bones, Metaphyseal cupping, Micr... OMIM:613320
Juberg-Hayward Syndrome
Toe syndactyly, Abnormality of finger, Hammertoe, Short thumb, Hypoplasia of the radius, Abnormal... ORPHA:2319
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Obesity, Ataxia, Inappropriate laughter, Broad-based gait ORPHA:411515
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Brachydactyly, Kyphosis, Cryptorchidism, Micropenis, Sandal gap, Small hand, Delayed puberty, Sho... OMIM:300354
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Histiocytosis, Ventricular septal defect, Hallux valgus, Tibial torsion, Cardiomega... OMIM:602782
Hypomelanosis Of Ito
Clinodactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Syndactyly OMIM:300337
Cantú Syndrome
Coxa valga, Finger syndactyly, Short neck, Ovoid vertebral bodies, Abnormal heart valve morpholog... ORPHA:1517
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Congenital Muscular Dystrophy, Ullrich Type
Slender finger, Increased laxity of fingers, Short neck, Kyphosis, Long toe, Adducted thumb, Scol... ORPHA:75840
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Scoliosis, Fragmented epiphyses, Genu valgum, Abnormal metatarsal morphology, Hip dis... ORPHA:93360
Mucolipidosis Ii Alpha/Beta
Metaphyseal widening, Cardiomegaly, Hip dislocation, Ovoid vertebral bodies, Thoracolumbar kyphos... OMIM:252500
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Ascites, Cardiomegaly OMIM:269920
Pelger-Huet Anomaly
Short 5th metacarpal, Kyphosis, Short 4th metacarpal, Upper limb undergrowth, Giant platelets, Po... OMIM:169400
Congenital Disorder Of Glycosylation, Type Il
Short neck, Kyphosis, Hepatosplenomegaly, Hepatomegaly, Ascites, Pericardial effusion, Hip disloc... OMIM:608776
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Mucopolysaccharidosis, Type Ivb
Coxa valga, Ovoid vertebral bodies, Kyphosis, Cervical subluxation, Hypoplasia of the odontoid pr... OMIM:253010
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Sandal gap, Hyperlordosis, Broad distal phalanx of finger, Scoliosis, Po... OMIM:615761
Idiopathic Intracranial Hypertension
Depression, Obesity, Abnormal emotion/affect behavior, Lethargy ORPHA:238624
Mucopolysaccharidosis, Type Vii
Short neck, Kyphosis, Abnormal heart valve morphology, Anterior beaking of lumbar vertebrae, Prox... OMIM:253220
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity, Spinal deformi... OMIM:615084
Myofibrillar Myopathy 10
Kyphosis, Sandal gap, Flexion contracture of finger, Elbow flexion contracture, Left ventricular ... OMIM:619040
Hall-Riggs Mental Retardation Syndrome
Brachydactyly, Kyphosis, Platyspondyly, Scoliosis, Metaphyseal dysplasia, Irregular vertebral end... OMIM:234250
15Q24 Microdeletion Syndrome
Abnormality of toe, Clinodactyly, Abnormal thumb morphology, Brachydactyly, Kyphosis, Cryptorchid... ORPHA:94065
Summitt Syndrome
Obesity OMIM:272350
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... OMIM:300106
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Mehmo Syndrome
Small for gestational age, Obesity, Inability to walk, Aggressive behavior, Gait ataxia, Difficul... OMIM:300148
Acrofacial Dysostosis, Palagonia Type
Spina bifida occulta at S1, Short 4th metacarpal, Hypoplasia of the odontoid process, Abnormal ve... OMIM:601829
Bone Marrow Failure Syndrome 5
Anemia, Testicular atrophy, Hypogonadism, Pure red cell aplasia OMIM:618165
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Premature ovarian insufficiency ORPHA:100025
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Perry Syndrome
Suicidal ideation, Short stepped shuffling gait, Disinhibition, Anxiety, Inappropriate behavior, ... OMIM:168605
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Short neck, Kyphosis, Subvalvular aortic stenosis, Membranous subvalv... ORPHA:3191
Joubert Syndrome 18
Kyphoscoliosis, Camptodactyly, Ventricular septal defect, Polydactyly OMIM:614815
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Vertebral segmentation defect, Scoliosis, Kyphosis ORPHA:2617
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia, Erlenmeyer flask deformity o... OMIM:610539
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Bruck Syndrome 1
Kyphosis, Elbow flexion contracture, Vertebral wedging, Platyspondyly, Protrusio acetabuli, Scoli... OMIM:259450
Mcdonough Syndrome
Cryptorchidism, Scoliosis, Bilateral single transverse palmar creases, Kyphosis ORPHA:2471
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Abnormality of fibula morphology, Tibial bowing, Splenomegaly, Lower li... ORPHA:3035
Symptomatic Form Of Hemochromatosis Type 1
Hypogonadotropic hypogonadism, Infertility, Portal hypertension, Hypothyroidism, Amenorrhea, Card... ORPHA:465508
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormal hip bone morphology, Short neck, Kyphosis, Hyperlordos... ORPHA:2522
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Ascites, Cardiomegaly, Thrombocytopenia ORPHA:858
Sialidosis Type 2
Kyphosis, Splenomegaly, Hepatomegaly, Ascites ORPHA:87876
Gaucher Disease Type 1
Pancytopenia, Abnormal myocardium morphology, Leukopenia, Kyphosis, Biliary tract obstruction, De... ORPHA:77259
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Brachydactyly, Vaginal hernia, Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic verte... ORPHA:2916
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Abnormal vertebral morphology, Scoliosis... ORPHA:64754
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormality of the spleen, Abnormality of mesentery morpho... ORPHA:93941
Intellectual Disability-Developmental Delay-Contractures Syndrome
Clinodactyly of the 5th finger, Scoliosis, Kyphosis ORPHA:3454
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short neck, Micropenis, Decreased fibular diameter, Ascites, Hypertrophic cardiomyopathy, Platysp... OMIM:616897
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Sandal gap, Splenomegaly, Hypoplasia of penis, Anemia, Ascites, Hypospadias ORPHA:1046
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatic steatosis, Kyphosis, Cryptorchidism, Hepatomegaly, Scoliosis, Diabetes mellitus, Hypogona... OMIM:615381
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Slender finger, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Small hand, Short foot OMIM:618443
Arthrogryposis, Distal, Type 3
Single transverse palmar crease, Short neck, Cryptorchidism, Short phalanx of finger, Congenital ... OMIM:114300
Frank-Ter Haar Syndrome
Brachydactyly, Kyphosis, Clinodactyly of the 5th finger, Beaking of vertebral bodies, Mitral valv... ORPHA:137834
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Back pain, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Glycogen Storage Disease Xii
Cholelithiasis, Short neck, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocy... OMIM:611881
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Acromesomelic Dysplasia 1
Lower thoracic kyphosis, Acromesomelia, Short toe, Ovoid vertebral bodies, Cone-shaped epiphyses ... OMIM:602875
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Kyphosis, Abnormality of the cervical spine, Scoliosis, Camptodact... ORPHA:48431
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis, Broad proximal phalanges of the hand, Hallux valgus ORPHA:505652
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Mucopolysaccharidosis Type 7
Abnormal hip bone morphology, Short neck, Anterior beaking of lumbar vertebrae, Epiphyseal stippl... ORPHA:584
Gaucher Disease, Type I
Pancytopenia, Aortic valve stenosis, Vertebral compression fracture, Splenomegaly, Hepatomegaly, ... OMIM:230800
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Achondroplasia
Brachydactyly, Bowing of the legs, Trident hand, Kyphosis, Hip joint hypermobility, Short proxima... ORPHA:15
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Thoracic pla... ORPHA:457395
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypothyroidism, Toe clinodactyly, Finger syndactyly, Short palm, Short neck, C... ORPHA:254346
2Q31.1 Microdeletion Syndrome
Abnormality of the ulna, Cryptorchidism, Sandal gap, Clinodactyly of the 5th finger, Tapered fing... ORPHA:251014
Dysplastic Cortical Hyperostosis
Limb undergrowth, Abnormality of limb bone morphology, Splenomegaly, Hepatomegaly ORPHA:2204
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
3M Syndrome
Hypoplastic ischia, Hypoplastic pubic bone, Hypoplasia of the ulna, Short neck, Kyphosis, Increas... ORPHA:2616
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Self-mutilation, Aggressive behavior OMIM:616521
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Poland Syndrome
Abnormality of the ulna, Finger symphalangism, Cryptorchidism, Unilateral brachydactyly, Cone-sha... ORPHA:2911
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Scoliosis OMIM:252900
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Testicular atrophy, Cirrhosis, Thrombocytopenia OMIM:613987
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia ORPHA:721
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Camurati-Engelmann Disease
Abnormality of the vertebral column, Abnormality of the ulna, Anemia, Scoliosis, Abnormality of t... ORPHA:1328
Disorder Of Sex Development-Intellectual Disability Syndrome
Small scrotum, Short neck, Kyphosis, Hypoplasia of penis, Spina bifida occulta, Genu valgum, Hypo... ORPHA:2983
Patterson Pseudoleprechaunism Syndrome
Ovoid thoracolumbar vertebrae, Small cervical vertebral bodies, Irregular acetabular roof, Palmop... OMIM:169170
Attrv122I Amyloidosis
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Anemia, Spinal canal stenosis, Restrictive card... ORPHA:85451
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Small hypothenar eminence, Primary amenorrhea, Cryptorchidism, Decreased serum estra... ORPHA:2232
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Syndactyly OMIM:613576
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Clinodactyly, Leukopenia, Monocytosis, Single transverse palmar crease, Cryptorchidism, Atrial se... OMIM:612541
Neuraminidase Deficiency
Vacuolated lymphocytes, Epiphyseal stippling, Splenomegaly, Hepatomegaly, Bone-marrow foam cells,... OMIM:256550
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Sandal gap, Macrodactyly, Splenomegaly, Scoliosis OMIM:612918
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Abnormality of the palmar creases, Atrial septal defect, Ventricular septal... OMIM:618652
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Clinodactyly, Hypothyroidism, Thoracic kyphoscoliosis, Portal hypertension, Single ... OMIM:613385
3C Syndrome
Brachydactyly, Abnormal hip bone morphology, Tetralogy of Fallot, Finger syndactyly, Short neck, ... ORPHA:7
Spinocerebellar Ataxia, Autosomal Recessive 21
Talipes equinovarus, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Feingold Syndrome
Brachydactyly, Toe syndactyly, Abnormal form of the vertebral bodies, Deviation of the 2nd finger... ORPHA:1305
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Lopes-Maciel-Rodan Syndrome
Scoliosis, Kyphosis, Short foot, Small hand OMIM:617435
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Shoulder dislocation, Kyphosis, Arachnodactyly, Adducted thumb, Scoliosis ORPHA:2181
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Diabetes mellitus, Ascites, Cirrhosis, Hepati... OMIM:271500
Mogs-Cdg
Hypothyroidism, Thoracic scoliosis, Hepatosplenomegaly, Left ventricular hypertrophy, Atrial sept... ORPHA:79330
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Short neck, Cervical subluxation, Hypoplasia of the odontoid process, Platyspondyly, Irregular ve... OMIM:184100
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Hypertrophic cardiomyopathy, Sp... ORPHA:848
Ck Syndrome
Abnormal digit morphology, Scoliosis, Hyperlordosis, Kyphosis OMIM:300831
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Short neck, Kyphosis, Short femoral neck, ... ORPHA:94068
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Clubbing of fingers, Autoimmune thrombocytopenia, Aut... OMIM:618534
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Arachnodactyly, Kyphosis OMIM:248760
Timothy Syndrome
Hypothyroidism, Tetralogy of Fallot, Patent foramen ovale, Cutaneous syndactyly, Ventricular sept... OMIM:601005
Aredyld Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Splenomegaly, Hepatomegaly, Scoliosi... ORPHA:1133
Weaver Syndrome
Clinodactyly, Cryptorchidism, Flared humeral metaphysis, Flared femoral metaphysis, Radial deviat... OMIM:277590
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Short neck, Patent foramen ovale, Atrial septal defect, Splenom... OMIM:606003
Stickler Syndrome, Type I
Kyphosis, Beaking of vertebral bodies, Platyspondyly, Arachnodactyly, Irregular femoral epiphysis... OMIM:108300
Chst3-Related Skeletal Dysplasia
Brachydactyly, Irregular epiphyses, Abnormal form of the vertebral bodies, Intervertebral space n... ORPHA:263463
Oculoskeletodental Syndrome
Hypothyroidism, Thoracic kyphosis, Short femoral neck, Cryptorchidism, Splenomegaly, Hepatomegaly... OMIM:618440
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Thanatophoric Dysplasia
Brachydactyly, Abnormal ilium morphology, Kyphosis, Atrial septal defect, Platyspondyly, Micromel... ORPHA:2655
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Fucosidosis
Hypothyroidism, Kyphosis, Abnormality of the gallbladder, Anterior beaking of lumbar vertebrae, H... ORPHA:349
Sialuria
2-3 toe syndactyly, Splenomegaly, Hepatomegaly, Long hallux, Hypoplastic nipples, Scoliosis OMIM:269921
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
X-Linked Intellectual Disability, Cabezas Type
Toe syndactyly, Short neck, Short palm, Kyphosis, Sandal gap, Clinodactyly of the 5th finger, Hyp... ORPHA:85293
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Scoliosis ORPHA:3137
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Elbow flexion contracture, Tapered finger, Hyperlordosis, Congenital bilateral hip disl... ORPHA:536516
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Iron deficiency anemia, Hypoplastic iliac wing, S... ORPHA:93315
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Scapuloperoneal Spinal Muscular Atrophy
Clinodactyly, Kyphosis, Hyperlordosis, Metatarsus adductus, Scapular muscle atrophy, Scoliosis, S... OMIM:181405
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Kyphosc... OMIM:252930
Spondylometaphyseal Dysplasia, Algerian Type
Carpal bone hypoplasia, Hypoplasia of proximal radius, Short long bone, Short greater sciatic not... OMIM:184253
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity, Spinal deformi... ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Hepatomegaly, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy OMIM:617713
Harrod Syndrome
Abnormality of pelvic girdle bone morphology, Kyphosis, Cryptorchidism, Arachnodactyly, Scoliosis... ORPHA:2115
Mucopolysaccharidosis Type 4
Bowing of the long bones, Coxa valga, Short neck, Abnormality of epiphysis morphology, Kyphosis, ... ORPHA:582
Chung-Jansen Syndrome
Impulsivity, Obesity, Anxiety, Aggressive behavior OMIM:617991
Gm1 Gangliosidosis
Hepatosplenomegaly, Abnormal form of the vertebral bodies, Abnormality of epiphysis morphology, K... ORPHA:354
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Brachydactyly, Eosinophilia, Delayed ossification of carpal bones, Single transverse palmar creas... OMIM:617425
Otospondylomegaepiphyseal Dysplasia
Brachydactyly, Coronal cleft vertebrae, Abnormal pelvis bone morphology, Short neck, Short metaca... ORPHA:1427
8P11.2 Deletion Syndrome
Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Sacral dimple, Cry... ORPHA:251066
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Marden-Walker Syndrome
Short neck, Kyphosis, Cryptorchidism, Micropenis, Dextrocardia, Radioulnar synostosis, Talipes eq... OMIM:248700
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Bilateral single transverse palmar creases, Kyphosis ORPHA:85317
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly, Testicular atrophy OMIM:601163
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Scoliosis, Kyphosis, Platyspondyly OMIM:259440
Marfanoid Habitus With Situs Inversus
Kyphosis, Pulmonic stenosis, Situs inversus totalis, Arachnodactyly, Scoliosis, Hyperextensibilit... OMIM:609008
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Joint contracture of the 5th finger, Arachnodactyly, Scoliosis, Camptodactyly of finger ORPHA:1883
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Mosaic Trisomy 20
Clinodactyly, Kyphosis, Cryptorchidism, Abnormal mitral valve morphology, Dysplastic tricuspid va... ORPHA:1724
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shoulder dislocation, Coronal cleft vertebrae, Narrow vertebral interpedicular distance, Scoliosi... OMIM:143095
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Brachydactyly, Toe syndactyly, Broad toe, 2-3 toe syndactyly, Postaxial foot polydactyly, Hypopla... OMIM:263540
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Hurler-Scheie Syndrome
Kyphosis, Contracture of the distal interphalangeal joint of the fingers, Thenar muscle atrophy, ... OMIM:607015
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Decreased proportion of CD4-positive helper T cells, Narrow greater sc... ORPHA:508533
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Obesity, Aggressive behavior OMIM:301013
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of the hand, Back... ORPHA:905
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Cryptorchidism, Broad distal phalanx of... ORPHA:404440
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis, Congenital bilateral hip dislocation OMIM:130060
Trisomy 13
Abnormality of pelvic girdle bone morphology, Kyphosis, Abnormal morphology of female internal ge... ORPHA:3378
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Farber Lipogranulomatosis
Lipogranulomatosis, Osteolysis involving bones of the feet, Splenomegaly, Hepatomegaly, Osteolyti... OMIM:228000
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Hurler Syndrome
Hepatosplenomegaly, Coxa valga, Hypoplasia of the femoral head, Flared iliac wing, Short neck, Ky... OMIM:607014
Spondyloepiphyseal Dysplasia Congenita
Flattened epiphysis, Atlantoaxial instability, Short neck, Ovoid vertebral bodies, Kyphosis, Dela... OMIM:183900
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis ORPHA:2429
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Hypoplasia of the femoral head, Thrombocytosis, ... OMIM:209950
Developmental And Epileptic Encephalopathy 95
Brachydactyly, Single transverse palmar crease, Cryptorchidism, Clinodactyly of the 5th finger, S... OMIM:618143
Central Precocious Puberty
Obesity, Increased body weight, Overgrowth ORPHA:759
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventr... OMIM:306955
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Brachydactyly, Kyphosis, Short greater sciatic notch, Atrial septal def... ORPHA:1860
Chromosome Xq26.3 Duplication Syndrome
Kyphosis, Increased serum insulin-like growth factor 1, Hypopituitarism, Elevated circulating gro... OMIM:300942
4Q21 Microdeletion Syndrome
Toe syndactyly, Short neck, Short palm, Kyphosis, Micromelia, Scoliosis, Small hand, Short foot ORPHA:238750
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Butterfly vertebrae, Hypoplasia of the ulna, Finger syndactyly, Short neck, K... ORPHA:958
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Vacterl Association With Hydrocephalus
Absent thumb, Abnormality of the vertebral column, Radial club hand, Abnormal vertebral morpholog... OMIM:276950
Marinesco-Sjogren Syndrome
Coxa valga, Kyphosis, Short metacarpal, Scoliosis, Cubitus valgus, Hypergonadotropic hypogonadism... OMIM:248800
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Upper limb hypertonia ORPHA:319199
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatosplenomegaly, Single transverse palmar crease, Cryptorchidism, Epiphyseal stippling, Spleno... OMIM:614866
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Tetralogy of Fallot, Atrial septal defect, Abnormal vertebral morphology, Hyp... ORPHA:210122
Prader-Willi Syndrome
Clinodactyly, Infertility, Primary amenorrhea, Acromicria, Cryptorchidism, External genital hypop... OMIM:176270
Sickle Cell Anemia
Cholelithiasis, Increased red cell sickling tendency, Priapism, Leukocytosis, Splenomegaly, Hepat... OMIM:603903
Bruck Syndrome
Bowing of the long bones, Kyphosis, Platyspondyly, Scoliosis, Talipes equinovarus ORPHA:2771
Myopathy, Centronuclear, 2
Kyphosis, Hyperlordosis, Scoliosis, Talipes equinovarus, Scapular winging OMIM:255200
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Kyphosis, Hypospadias, Abnormal cardiac septum morphology OMIM:616449
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Srd5A3-Cdg
Microcytic anemia, Abnormal sacrum morphology, Hypothyroidism, Palmoplantar keratoderma, Kyphosis... ORPHA:324737
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Elevated hepatic ... OMIM:616860
Wolfram Syndrome 1
Hypothyroidism, Sideroblastic anemia, Diabetes insipidus, Limited mobility of proximal interphala... OMIM:222300
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Sandal gap, Bilateral elbow dislocations, Metacarpophalangeal joint hyperex... OMIM:245600
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Lumbar hemivertebrae, Abnormality of the thymus, Thenar muscle atrophy... ORPHA:2463
Adams-Oliver Syndrome 5
Brachydactyly, Right atrial enlargement, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, R... OMIM:616028
Noonan Syndrome 14
Clinodactyly, Short neck, Kyphosis, Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosi... OMIM:619745
Congenital Rubella Syndrome
Atrial septal defect, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Abnormality of the metaphysis... ORPHA:290
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Primary amenorrhea, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Diabetes m... OMIM:612526
Craniofaciofrontodigital Syndrome
Short neck, Hypoplastic vertebral bodies, Palmoplantar cutis laxa, Abnormal heart morphology, Cub... OMIM:114620
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Bacterial endocarditis, Jaundice, Pulmonic valve myxoma, Ascites, Ca... ORPHA:615
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Brachydactyly, Cholestasis, Cone-shaped epiphyses of the phalanges of the hand, Splenomegaly, Hep... OMIM:615630
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis, Single transverse palmar crease OMIM:300861
Sialidosis Type 1
Scoliosis, Kyphosis, Splenomegaly, Abnormal form of the vertebral bodies ORPHA:812
Baralle-Macken Syndrome
Tapered finger, Kyphosis OMIM:619255
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis ORPHA:172
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Hyperlordosis, Scoliosis, Vertebral fusion, Shoulder girdle muscle weakness OMIM:606612
Emanuel Syndrome
Kyphosis, Cryptorchidism, Micropenis, Atrial septal defect, Congenital hip dislocation, Pulmonic ... OMIM:609029
Cohen Syndrome
Abnormal hip bone morphology, Finger syndactyly, Kyphosis, Cryptorchidism, Sandal gap, Clinodacty... ORPHA:193
Kagami-Ogata Syndrome
Coxa valga, Atrial septal defect, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Long fingers, Li... OMIM:608149
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Short neck, Cryptorchidism, Micropenis, Pancreatic lymphangiectasis, Splenome... ORPHA:1655
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Czech Dysplasia
Flat capital femoral epiphysis, Narrow iliac wing, Narrow femoral neck, Thoracic kyphosis, Short ... OMIM:609162
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Low back pain, L... ORPHA:86843
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Thanatophoric Dysplasia Type 2
Brachydactyly, Kyphosis, Atrial septal defect, Platyspondyly, Micromelia, Abnormality of the meta... ORPHA:93274
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Short 5th metacarpal, Splenomegaly, Hyperinsulinemia ORPHA:66518
Fountain Syndrome
Brachydactyly, Kyphosis, Abnormal form of the vertebral bodies, Large hands, Short distal phalanx... ORPHA:3219
Alg1-Cdg
Abnormal heart morphology, Scoliosis, Kyphosis, Cardiomyopathy ORPHA:79327
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Anxiety, Overweight, Self-mutilation, Gait disturbance, Depression ORPHA:457240
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Increased body weight, Increased body mass index OMIM:614450
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Femur fracture, Sandwich appearance of vertebral bodies, Splenomegaly, Hepatomegaly... OMIM:259700
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... OMIM:300853
Classical-Like Ehlers-Danlos Syndrome Type 2
Abnormality of toe, Shoulder dislocation, Thoracic scoliosis, Kyphosis, Sacral dimple, Hammertoe,... ORPHA:536532
Magel2-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, External genital hypopla... ORPHA:398069
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Right ventricular hypertrophy, Hyperlordosis, Distal upp... ORPHA:268
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmu... OMIM:615559
Mulibrey Nanism
Single transverse palmar crease, Pericardial constriction, Thickened cortex of long bones, Hepato... OMIM:253250
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Hepatic fibrosis OMIM:619658
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Hemoglobin E Disease
Splenomegaly, Miscarriage, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequ... ORPHA:2133
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Kyphosis OMIM:618237
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:610293
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis ORPHA:99014
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Brachydactyly, Synostosis of carpal bones, Finger syndactyly, Kyphosis, Clinodactyly of the 5th f... ORPHA:1005
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Kyphosis, Hyperlordosis, Scoliosis, Vertebral fusion, Shoulder girdle mus... OMIM:607155
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Kyphosis, Atrial septal defect, Ventricular septal defect, Postaxial polydactyly OMIM:603387
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Abnormal B cell morphology, Hashimoto thyroiditis, Atrial septal defect, Do... OMIM:618223
Robinow Syndrome, Autosomal Dominant 3
Brachydactyly, Clinodactyly, Short neck, Kyphosis, Sacral dimple, Hypoplastic right heart, Crypto... OMIM:616894
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Clinodactyly, Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level,... ORPHA:95699
Attrv30M Amyloidosis
Cardiomegaly, Impotence, Cardiomyopathy ORPHA:85447
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Short neck, Cryptorchidism, Micropenis, Pancreatic lymphangiectasis, Splenomegaly, Hepatomegaly, ... OMIM:235255
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Fanconi Anemia, Complementation Group B
Absent thumb, Bilateral radial aplasia, Short neck, Micropenis, Abnormal vertebral morphology, Ve... OMIM:300514
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Elbow flexion contracture, Kyphosis OMIM:618138
Alstrom Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Hypothyroidism, Irregular menstruation, Diabetes insip... OMIM:203800
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Cardiomegaly, Atrial septal defect, Abnormal mitral valve mo... ORPHA:860
Babesiosis
Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Clinodactyly of the 5th toe, ... ORPHA:108
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Abnormality of pelvic girdle bone morph... OMIM:102700
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver di... OMIM:616828
Mucopolysaccharidosis Type 1