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Gene: Prss35 MGI:2444800

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Gene Summary

Name:
serine protease 35
Synonyms:
6030424L22Rik

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
small testis Prss35em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Prss35em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Prss35em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Prss35em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Prss35em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal uterus morphology Prss35em1(IMPC)Ccpcz HOM Early adult 0.00
impaired glucose tolerance Prss35em1(IMPC)Ccpcz HOM Early adult 8.18×10-06
abnormal heart morphology Prss35em1(IMPC)Ccpcz HOM Early adult 0.00
kyphosis Prss35em1(IMPC)Ccpcz HOM   Early adult 3.71×10-05
lordosis Prss35em1(IMPC)Ccpcz HOM Early adult 6.86×10-07
decreased locomotor activity Prss35em1(IMPC)Ccpcz HOM Early adult 2.26×10-05
enlarged spleen Prss35em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal eye morphology Prss35em1(IMPC)Ccpcz HOM Early adult 0.00
hydrometra Prss35em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Prss35em1(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 Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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Human diseases caused by Prss35 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 Prss35 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance ORPHA:2274
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Hyperlordosis, Cryptorchidism, Gait disturbance, Type I diabete... ORPHA:1192
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism, Scoliosis, Hyperlordosis ORPHA:408
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Scoliosis OMIM:300718
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsulinemia, Second... ORPHA:3085
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbance, Scoliosis OMIM:617404
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Kyphosis, Hypogonadism, Gait disturbance, Abnormality of the ovary ORPHA:1875
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Inability to walk, Dilated cardiomyopathy, Thoracic kyp... ORPHA:206546
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Waddling gait, Unsteady gait, Lumbar hyperlordosis ORPHA:280333
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Scoli... OMIM:616756
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Waddling gait, Difficulty walking, Scoliosis, Hyperlordosis OMIM:611067
Striatonigral Degeneration, Childhood-Onset
Steppage gait, Loss of ambulation, Unsteady gait, Lumbar hyperlordosis OMIM:617054
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond... OMIM:600561
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Ethanolaminosis
Cardiomegaly OMIM:227150
Spastic Paraplegia 18B, Autosomal Recessive
Inability to walk, Kyphosis, Gait disturbance, Scoliosis OMIM:611225
Sandhoff Disease
Splenomegaly, Kyphosis, Ataxia, Hepatomegaly ORPHA:796
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Difficulty walking, Hyperlordosis ORPHA:363454
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Broad-based gait, Hyperlordosis, Kyphosis, Steppage gait, Tip-toe gait, Scoliosis OMIM:615290
Rigid Spine Syndrome
Waddling gait, Hyperlordosis, Scoliosis, Spinal rigidity ORPHA:97244
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... OMIM:609223
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis, Spastic gait OMIM:619966
Myopathy, Distal, 1
Lumbar hyperlordosis, Left atrial enlargement, Dilated cardiomyopathy, Tip-toe gait, Gait disturb... OMIM:160500
Masa Syndrome
Kyphosis, Shuffling gait, Hyperlordosis OMIM:303350
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity OMIM:255600
Mucolipidosis Type Iii
Abnormal heart valve morphology, Abnormal aortic valve morphology, Abnormal form of the vertebral... ORPHA:577
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Kyphoscoliosis, Cardiomegaly OMIM:300886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Hyperlordosis, Cryptorchidism, Inability to walk, Scoliosis, Left ventricular hypertrophy, Microp... OMIM:613156
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Gait disturbance, Difficulty walking, Hyperlordosis ORPHA:352470
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... OMIM:235200
Metaphyseal Chondrodysplasia, Spahr Type
Gait disturbance, Scoliosis, Hyperlordosis ORPHA:2501
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Waddling gait, Thoracic scoliosis, Tip-toe gait, Hyperlordosis ORPHA:62
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Nemaline Myopathy 5C, Autosomal Dominant
Waddling gait, Hyperlordosis, Tip-toe gait, Difficulty walking, Scoliosis OMIM:620389
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Cardiomyopathy, Lumbar hyperlordosis, Difficulty walking, Spinal rigidity OMIM:609308
Nemaline Myopathy 7
Waddling gait, Lumbar hyperlordosis, Gait disturbance, Kyphoscoliosis OMIM:610687
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Waddling gait, Broad-based gait, Abnormal macrophage morphology, Lumbar hyperlordosis, Tip-toe ga... ORPHA:353
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Azoospermia, C... OMIM:602390
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Abnormal sacrum morphology, Abnormal morphology of female internal gen... ORPHA:1797
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increased vertebral height, Hypothyroidism, Trunca... OMIM:616817
Congenital Myopathy 2A, Typical, Autosomal Dominant
Waddling gait, Spinal rigidity, Hyperlordosis, Dilated cardiomyopathy, Scoliosis OMIM:161800
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Lumbar hyperlordosis, Scoliosis OMIM:602484
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Spinal Muscular Atrophy, Infantile, James Type
Lumbar hyperlordosis, Scoliosis OMIM:619042
King-Denborough Syndrome
Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Bilateral cryptorchi... OMIM:619542
Congenital Myopathy 16
Lumbar hyperlordosis, Scoliosis, Spinal rigidity OMIM:618524
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Hyperlordosis OMIM:614198
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Scoliosis, Hyperlordosis ORPHA:1387
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Falls, Patent foramen ovale, Gait disturbance, Hyperlordosis OMIM:615156
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Unsteady gait, Lumbar hyperlordosis, Difficulty walking OMIM:613818
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia, Abnormalit... OMIM:307500
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Waddling gait, Lumbar hyperlordosis, Spinal rigidity, Cardiomyopathy, Scoliosis, Difficulty walki... ORPHA:86812
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte... ORPHA:2522
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis OMIM:615761
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Tip-toe gait, Spinal rigidity, Difficulty walking, Hyperlordosis ORPHA:267
Satoyoshi Syndrome
Hyperlordosis, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... ORPHA:3130
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, External genital hypoplasia, Unste... ORPHA:3041
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cryptorchidism, Hypoplasia of the prostate, Scoliosis, Delayed puberty, Micropenis, Sch... OMIM:301900
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,... ORPHA:1354
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Waddling gait, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abno... ORPHA:99642
Diastrophic Dysplasia
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Hypoplastic cervical vertebrae OMIM:222600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Tip-toe gait, S... OMIM:607155
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Gait disturbance, Hyperlordosis ORPHA:157973
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Spinal c... ORPHA:93476
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis OMIM:610313
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Difficulty walking, Scoliosis OMIM:617087
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve stenosis OMIM:252605
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Gait disturbance, Hyperlordosis OMIM:618129
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Secondary amenorrhea, Cardiomyopathy, Hepatic fibrosis, Hypogonadism,... OMIM:613313
Kennedy Disease
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula... ORPHA:481
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Broad-based gait, Lumbar hyperlordosis, Steppage gait, Gait disturbance, Gait imbalance, Tip-toe ... ORPHA:435387
Anauxetic Dysplasia 2
Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin... OMIM:617396
Nemaline Myopathy 2
Waddling gait, Spinal rigidity, Hyperlordosis, Inability to walk, Steppage gait, Gait disturbance... OMIM:256030
Gm1 Gangliosidosis
Ventricular septal defect, Ataxia, Hyperlordosis, Kyphosis, Splenomegaly, Unsteady gait, Abnormal... ORPHA:354
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Mucopolysaccharidosis, Type Iva
Waddling gait, Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordos... OMIM:253000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Hyperlordosis, Right ventricular dilatation, Scoliosis, Loss of ambulation, Right ventricular hyp... OMIM:253700
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis ORPHA:1548
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Abnormal form of the vertebral bodies ORPHA:1802
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Amyotrophic Lateral Sclerosis 27, Juvenile
Hyperlordosis, Steppage gait, Gait disturbance, Tip-toe gait, Scoliosis, Loss of ambulation OMIM:620285
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Difficulty walking OMIM:606612
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Hepatomegaly, Hyperlordosis, Right ventricular dilatation, Difficulty walking, Tru... ORPHA:369840
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Kyphosis, Prolonged neonatal jaundice OMIM:618512
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Waddling gait, Scoliosis, Hyperlordosis OMIM:617760
Myopathy, Centronuclear, 2
Waddling gait, Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly, Hypogonadism, Cardiomyopathy OMIM:608540
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Gait disturbance, Ataxia, Scoliosis ORPHA:101075
Hypochondroplasia
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:429
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Ataxia, Hypoglycemia, Kyphosis, Dysmetria, Scoliosis, Abnormality ... ORPHA:48431
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Waddling gait, Left atrial enlargement, Kyphoscoliosis, Cardiomegaly, Ky... OMIM:300280
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral... OMIM:602557
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Cryptorchidism, Kyphosis, Inability to walk, Scoliosis, Difficulty walking OMIM:611890
Myasthenic Syndrome, Congenital, 14
Waddling gait, Scoliosis, Hyperlordosis OMIM:616228
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Waddling gait, Lumbar hyperlordosis ORPHA:156728
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Cardiomegaly, Inability to walk, Abnormal atrioventricular valve morphology, Mitr... ORPHA:324410
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... OMIM:271500
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Joubert Syndrome 37
Hepatomegaly, Lumbar hyperlordosis, Cryptorchidism, Micropenis, Decreased testicular size OMIM:619185
Neuropathy, Congenital, With Arthrogryposis Multiplex
Broad-based gait, Hyperlordosis OMIM:162370
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Partial Androgen Insensitivity Syndrome
Fused labia majora, Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Platyspondyly, Scoliosis, Reduced sperm motility OMIM:602271
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Hepatosplenomegaly, Platyspondyly, Squared-off platyspondyly, Scoliosi... ORPHA:93352
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Tip-t... ORPHA:98855
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Loss of ambulation, Lumbar hyperlordosis, Gait disturbance OMIM:167320
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... OMIM:256050
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Kyphosis, Short neck OMIM:618393
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Tip-toe gait, Gai... ORPHA:98863
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Broad-based gait, Hyperlordosis OMIM:617450
Congenital Myopathy 8
Scoliosis, Cardiomegaly OMIM:618654
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Gait disturbance, Ataxia, Scoliosis ORPHA:101078
Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Tip-t... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Tip-t... ORPHA:98853
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia ORPHA:858
Acrocapitofemoral Dysplasia
Ovoid vertebral bodies, Scoliosis, Hyperlordosis ORPHA:63446
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Insulin resistance, Lumbar hyperlordosis, Hepatic steatosis OMIM:615980
Sialidosis Type 2
Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Ascites ORPHA:87876
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... ORPHA:2585
Thoracomelic Dysplasia
Hyperlordosis, Gait disturbance, Short neck ORPHA:1803
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Thoracic kyphoscoliosis, Hepatomegaly, Lumbar hyperlordosis, Pancytopenia, Portal hypertension, H... OMIM:613385
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Hyperlordosis, Cardiomyopathy, Abnormality of the vertebral column, Hepatic steatosis ORPHA:52430
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis ORPHA:536516
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility, Ataxia OMIM:613909
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Hyperlordosis, Irregular vertebral endplates, Coronal cleft vertebrae, Scoliosis OMIM:618363
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia ORPHA:276183
Stiff Person Spectrum Disorder
Diabetes mellitus, Lumbar hyperlordosis, Falls, Difficulty walking, Hypothyroidism ORPHA:3198
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Waddling gait, Lumbar hyperlordosis OMIM:165800
Autosomal Recessive Centronuclear Myopathy
Left ventricular hypertrophy, Abnormal heart valve morphology, Waddling gait, Hyperlordosis ORPHA:169186
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Lumbar hyperlordosis, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, ... ORPHA:2232
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hypert... OMIM:252920
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Increased serum serotonin ORPHA:85288
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Diabetes mellitus, Cryptorchidism, Kyphosis, Insulin resistance, Scoliosis, Male hy... OMIM:615381
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, T... OMIM:264180
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Muscular Dystrophy, Duchenne Type
Waddling gait, Hyperlordosis, Dilated cardiomyopathy, Cardiomyopathy, Tip-toe gait, Scoliosis, Lo... OMIM:310200
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentrati... ORPHA:417
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Lumbar hyperlordosis, Scoliosis OMIM:618167
Ck Syndrome
Lumbar hyperlordosis, Kyphoscoliosis ORPHA:251383
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Lethargy, H... OMIM:600649
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Kyphosis, Scoliosis, Delayed puberty ORPHA:2598
Three M Syndrome 1
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Spina bifida occulta, Decreas... OMIM:273750
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites OMIM:269920
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Primary amenorrhea, Hepatosple... OMIM:612526
Schwartz-Jampel Syndrome, Type 1
Waddling gait, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Coronal cleft... OMIM:255800
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Fucosidosis
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,... OMIM:230000
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Dysmetr... OMIM:256550
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia, Hyperlordosis OMIM:619980
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Recurrent hypoglyce... OMIM:212140
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Hypertrophic cardiomyopathy OMIM:618234
Mucopolysaccharidosis, Type X
Thickened aortic valve cusp, Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodi... OMIM:619698
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Alpha-Mannosidosis
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Type II diabetes mellitus, Scoliosis ORPHA:61
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Cdkl5-Deficiency Disorder
Kyphosis, Difficulty walking, Gait disturbance, Scoliosis ORPHA:505652
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat... ORPHA:582
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... OMIM:184100
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hyperlordosis, Hypochromic anemia, ... OMIM:600462
Progressive Pseudorheumatoid Arthropathy Of Childhood
Waddling gait, Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Ver... ORPHA:1159
Congenital Myopathy 4A, Autosomal Dominant
Dilated cardiomyopathy, Lumbar hyperlordosis, Scoliosis OMIM:255310
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis OMIM:613723
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Spinal rigidity, Hyperlordosis, Splenomegaly, Insulin resistance, Hyperinsulinemia,... OMIM:613327
Pseudoachondroplasia
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the ver... ORPHA:750
Lateral Meningocele Syndrome
Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of ... ORPHA:2789
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, Unstea... OMIM:618443
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, ... OMIM:253010
Schimke Immunoosseous Dysplasia
Waddling gait, Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Bilateral ... OMIM:242900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
X-Linked Sideroblastic Anemia
Splenomegaly, Glucose intolerance, Anemia ORPHA:75563
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis, Atrial septal defect ORPHA:352490
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Ataxia OMIM:620007
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:616719
Typical Nemaline Myopathy
Waddling gait, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Gait disturbance, Scoliosis ORPHA:171436
Usmani-Riazuddin Syndrome, Autosomal Dominant
Lumbar hyperlordosis, Thoracic kyphosis OMIM:619467
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis OMIM:609325
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Cryptorchidism, Scoliosis OMIM:114300
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo... ORPHA:93314
Mulchandani-Bhoj-Conlin Syndrome
Scoliosis, Hyperlordosis OMIM:617352
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, Kyphosis, Scoliosis, Short neck ORPHA:178148
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Ataxia, Megaloblastic anemia, Hypoth... OMIM:222300
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Hyperlordosis, Mitral valve prolapse, Gait disturbance, Scoliosis, Atrial septal defect OMIM:300986
Genitopalatocardiac Syndrome
Hypospadias, Kyphosis, Abnormal mesentery morphology, Abnormality of the gallbladder, Cryptorchid... ORPHA:2075
Spondyloepimetaphyseal Dysplasia, Irapa Type
Waddling gait, Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum OMIM:271650
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Spinal rigidity, Cardiomegaly, Inability to walk, Hyperlordosis, Tip-toe gait, Right ventricular ... ORPHA:268
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Ataxia, Kyphosis, Unsteady gait, Scoliosis, Loss of ambulation OMIM:618124
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, Atrial septal defec... OMIM:618870
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se... OMIM:608776
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant... ORPHA:79083
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Hyperlordosis, Inability to walk, Abnormal heart ... ORPHA:26791
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Hyperlordosis, Hypoplasia of the odontoid process, Insulin-resistant diabetes melli... OMIM:226980
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis OMIM:612126
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Kyphosis OMIM:618392
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Hyperlordosis ORPHA:2511
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Decreased response to growth hormone stimulation test, ... OMIM:216550
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation OMIM:184250
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Biliary tract abnormality, Membranous subvalvular aortic stenosis, Type II ... ORPHA:3191
Winchester Syndrome
Kyphosis OMIM:277950
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Vacuolated lym... OMIM:230500
Camurati-Engelmann Disease
Waddling gait, Hepatomegaly, Ataxia, Hyperlordosis, Kyphosis, Splenomegaly, Leukopenia, Abnormali... ORPHA:1328
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Gait disturbance, Ataxia, Scoliosis ORPHA:85317
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... OMIM:614841
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Cryptorchidism, Shawl scrotum, Micropenis, Decreased testicular size OMIM:615433
Ring Chromosome 12 Syndrome
Lumbar hyperlordosis, Secundum atrial septal defect, Cryptorchidism, Glandular hypospadias, Uteri... ORPHA:1439
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Broad-based gait, Scoliosis, Hyperlordosis OMIM:181405
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Short neck, Thromboc... OMIM:606003
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Choreoathetosis, Neutropenia, Lethargy, Pancr... ORPHA:79312
Congenital Myasthenic Syndromes With Glycosylation Defect
Waddling gait, Difficulty walking, Lumbar hyperlordosis, Scoliosis ORPHA:353327
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Myopathy, Centronuclear, 1
Hyperlordosis OMIM:160150
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis ORPHA:970
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae ORPHA:313892
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Kyphosis, Cryptorchidism, Abdominal situs inversus, Pulmonic... OMIM:619123
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis OMIM:616852
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Pericardial ... ORPHA:77259
Gm1-Gangliosidosis, Type Iii
Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Gait disturbance, Scoliosis ORPHA:2429
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Scoliosis OMIM:610743
Cutis Laxa, Autosomal Recessive, Type Iie
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis OMIM:619451
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Lumbar scoliosis, Cervical C2/C3 ... OMIM:617796
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnor... ORPHA:2311
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Scoliosis, Cryptorchidism OMIM:618484
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Primary amenorrhea... OMIM:300510
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Cardiac-Urogenital Syndrome
Bifid scrotum, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hyposp... OMIM:618280
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Hypertrophic cardiomyopathy OMIM:618237
Myotonia Permanens
Gait disturbance, Hyperlordosis ORPHA:99735
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Gait disturbance, Ataxia, Scoliosis ORPHA:99014
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Dystonia 1, Torsion, Autosomal Dominant
Inability to walk, Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Dilate... OMIM:615084
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Atrial septal defect, Hypergonadotropic hypogonadism, Decreased response to growth ... OMIM:602782
Desbuquois Dysplasia 1
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:251450
Attrv122I Amyloidosis
Cardiomegaly, Cardiac amyloidosis, Spinal canal stenosis, Hypertrophic cardiomyopathy, Left ventr... ORPHA:85451
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis, Cryptorchidism ORPHA:2617
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Lethargy, Cardiomegaly OMIM:619064
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Cardiomegaly ORPHA:88643
Metaphyseal Chondrodysplasia, Schmid Type
Waddling gait, Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis OMIM:156500
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Intellectual Disability And Myopathy Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:619719
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Kyphosis, Cryptorchidism, Gait ataxia, Hypogonadism, Delayed puberty, Micropenis, De... OMIM:300354
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Mcdonough Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2471
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis OMIM:613157
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
3M Syndrome
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility... ORPHA:2616
Cap Myopathy
Tip-toe gait, Thoracic scoliosis, Lumbar hyperlordosis, Mitral valve prolapse ORPHA:171881
Wieacker-Wolff Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:314580
Rhizomelic Dysplasia, Patterson-Lowry Type
Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:2831
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Pycnodysostosis
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:763
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia OMIM:261750
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Sialidosis Type 1
Ataxia, Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, Gait disturbance, Scoliosis ORPHA:812
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Insulin resistance, Secondary amenor... ORPHA:2348
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... OMIM:609616
Stiff-Person Syndrome
Diabetes mellitus, Lumbar hyperlordosis, Anemia OMIM:184850
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Hyperlordosis ORPHA:3068
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Anemia, Cardiomegaly OMIM:618838
Cantu Syndrome
Bicuspid aortic valve, Ovoid vertebral bodies, Cardiomegaly, Short neck, Pericardial effusion, Cu... OMIM:239850
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Unsteady gait, Ataxia, Scoliosis OMIM:300861
Chromosome 10Q26 Deletion Syndrome
Broad-based gait, Lumbar hyperlordosis, Small scrotum, Short neck, Cryptorchidism, Atrial septal ... OMIM:609625
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Congenital Rubella Syndrome
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Ty... ORPHA:290
Oculoskeletodental Syndrome
Thoracic kyphosis, Scoliosis, Hyperlordosis ORPHA:557003
Becker Nevus Syndrome
Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, Scoliosis, ... ORPHA:64755
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Mogs-Cdg
Hepatomegaly, Thoracic scoliosis, Atrial septal defect, External genital hypoplasia, Inappropriat... ORPHA:79330
Amed Syndrome, Digenic
Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone ma... OMIM:619151
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis OMIM:146000
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... ORPHA:615
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Scoliosis, Cryptorchidism OMIM:619797
Arthrogryposis, Distal, Type 5D
Hypoplastic labia majora, Hyperlordosis, Scoliosis, Short neck OMIM:615065
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Short neck, Thrombocytopenia, Inability to walk, Lumbar kyphosis, Hepatospl... ORPHA:505248
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Hepatomegaly, Ataxia, Hyperlordosis, Inability to walk, Athetosis, Scoliosis, Trun... OMIM:615356
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Infertility, Scoliosis, Upper limb dysmetria, Limb dysmetria, Spastic gait OMIM:614409
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Meacham Syndrome
Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Abn... ORPHA:3097
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Ataxia, Hypoglycemia, Cardiomegaly, Lethargy, Hepatic steatosis ORPHA:42
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Congenital Myopathy 10B, Mild Variant
Difficulty walking, Scoliosis, Hyperlordosis OMIM:620249
3Mc Syndrome
Supernumerary nipple, Hyperlordosis, Bilateral cryptorchidism, Prominent coccyx, Scoliosis, Spina... ORPHA:293843
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Ataxia, Splenomegaly, Cardiomyopathy, Neonatal hypoglycemia OMIM:619046
Cockayne Syndrome Type 2
Hepatomegaly, Ataxia, Cryptorchidism, Kyphosis, Gait disturbance, Scoliosis, Difficulty walking, ... ORPHA:90322
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly, Pancreatic lymphangiectasis, C... ORPHA:1655
Aredyld Syndrome
Hepatomegaly, Splenomegaly, Type II diabetes mellitus, Scoliosis, Type I diabetes mellitus ORPHA:1133
Ruvalcaba Syndrome
Kyphosis, Delayed puberty, Scoliosis, Cryptorchidism OMIM:180870
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr... OMIM:308750
Microphthalmia, Lenz Type
Hypospadias, Hyperlordosis, Cryptorchidism, Kyphosis, Scoliosis ORPHA:568
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Kyphosis, Unsteady gait, Scoliosis OMIM:617435
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis... OMIM:201475
Attrv30M Amyloidosis
Cardiomyopathy, Impotence, Cardiomegaly ORPHA:85447
Facioscapulohumeral Dystrophy
Hyperlordosis ORPHA:269
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Trichodermodysplasia-Dental Alterations Syndrome
Abnormal morphology of female internal genitalia, Adenoma sebaceum, Scoliosis, Hyperlordosis ORPHA:3353
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Ataxia, Puberty and gonadal disorders, Kyphosis, Unsteady gait, Scoliosis, Difficu... ORPHA:464282
Alpha-N-Acetylgalactosaminidase Deficiency
Scoliosis, Cardiomegaly ORPHA:3137
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... ORPHA:93284
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... OMIM:183900
Alexander Disease
Diabetes mellitus, Ataxia, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, Gait disturba... ORPHA:58
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... ORPHA:508533
Joubert Syndrome 33
Splenomegaly, Ataxia OMIM:617767
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Myopathy, Myofibrillar, 7
Lumbar hyperlordosis, Spinal rigidity, Thoracic kyphosis, Difficulty walking, Scoliosis OMIM:617114
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Neonatal hypoglycemia, Sex reversal, Am... ORPHA:168558
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Lethargy, Hepatic steatosis, Hypoketotic hypoglycemia OMIM:255120
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Neonatal hypogly... ORPHA:289548
Steel Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:615155
Cold Agglutinin Disease
Back pain, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Spondyloepiphyseal Dysplasia Congenita
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... ORPHA:94068
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, S... ORPHA:352447
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... ORPHA:457395
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Waddling gait, Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies OMIM:608728
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Ataxia, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Gait disturbance... OMIM:230600
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hypertrophy, Scoliosis OMIM:252900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hyperlordosis OMIM:611588
Clark-Baraitser syndrome
Macroorchidism, Kyphosis, Scoliosis OMIM:300602
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... OMIM:612310
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Atrial septal defect, Lethargy, ... ORPHA:398069
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia, Decreased response to growth hormone stimulation test, Hyperlordosis, Hypoplasia of... OMIM:616007
Metaphyseal Chondrodysplasia, Schmid Type
Waddling gait, Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Abnormal verte... ORPHA:174
Flynn-Aird Syndrome
Ataxia, Abnormality of the thyroid gland, Kyphosis, Primary adrenal insufficiency, Type II diabet... ORPHA:2047
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to gro... OMIM:203800
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Abnormal cardiac septum morphology, Aplasia of the uterus, Scoliosis, T... ORPHA:3320
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Ascites OMIM:614702
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis ORPHA:583
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Short neck, Bilateral cryptorchidism, Hypoplasia ... OMIM:305400
Three M Syndrome 3
Increased vertebral height, Hyperlordosis, Short neck OMIM:614205
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervertebral space... OMIM:607944
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Abnormality of thyroid physiology, Short neck, Thro... ORPHA:1830
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Cervical neoplasm, Kyphoscoliosis, Hyperlordosis, Thyroid C cell ... ORPHA:653
Schaaf-Yang Syndrome
Kyphosis, Cryptorchidism, Inability to walk, Hypogonadism, Scoliosis, Micropenis OMIM:615547
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad-based gait, Lumbar hyperlordosis, Ventricular septal defect, External genital hypoplasia, S... ORPHA:251028
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Limb ataxia, Truncal ataxia, Hypertrophic cardiomyopathy OMIM:619051
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Abnormality of the vertebral column, Bicornuate uterus OMIM:601076
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Impaired glucose tolerance, Splenomegaly, Cholestasis, G... OMIM:615630
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Ascites, Pericarditis, Lumbar hyperlordosis, Mitral valve prolapse ORPHA:2848
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Pure Mitochondrial Myopathy
Loss of ambulation, Lumbar hyperlordosis, Scoliosis, Waddling gait ORPHA:254854
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Anemia, Sclerotic vertebral endplates, Thrombocytopenia OMIM:611490
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, Hypopl... OMIM:617022
Wilson Disease
Back pain, Hepatomegaly, Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly, Jaun... ORPHA:905
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
15Q24 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Kyphosis, Cryptorchidism, Abn... ORPHA:94065
Pseudoachondroplasia
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... OMIM:177170
Kaposiform Lymphangiomatosis
Abnormal thoracic spine morphology, Metrorrhagia, Pancreatic cysts, Thrombocytopenia, Abnormal sa... ORPHA:464329
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hyperlordosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3218
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Vertebral segmentation defect, Scoliosis, Hyperlordosis ORPHA:1323
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Kyphoscoliosis, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hype... OMIM:252930
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Hyperlordosis, Precocious puberty, Hepatosplenomegaly, Cholecystitis,... OMIM:301066
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Kyphosis OMIM:619040
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... ORPHA:93315
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Ventricular septal defect, Cardiomegaly, Short neck, Hypertrophic cardiomyopathy, Pl... OMIM:616897
Alg1-Cdg
Kyphosis, Abnormal heart morphology, Scoliosis, Cardiomyopathy ORPHA:79327
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia ORPHA:664
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Steppage gait, Lumbar hyperlordosis, Scoliosis OMIM:601152
Martsolf Syndrome 1
Thoracic scoliosis, Lumbar hyperlordosis, Hypogonadotropic hypogonadism, Cryptorchidism, Cardiomy... OMIM:212720
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ascites OMIM:253250
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia ORPHA:99927
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia OMIM:613987
Fucosidosis
Hepatomegaly, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Anterior beaking of lumbar ... ORPHA:349
Marinesco-Sjogren Syndrome
Ataxia, Hypergonadotropic hypogonadism, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis OMIM:248800
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Gait disturbance OMIM:614898
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
3C Syndrome
Hypoplasia of penis, Hypospadias, Ventricular septal defect, Adrenal hypoplasia, Short neck, Abno... ORPHA:7
Anauxetic Dysplasia 1
Lumbar hyperlordosis, Short neck, Platyspondyly, Cervical subluxation, Thoracic kyphosis, Aortic ... OMIM:607095
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Cardiomegaly, Unsteady gait, Limb ataxia, Gait ataxia, Cardiomyopathy, Gait disturbance, ... OMIM:619259
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Hypogonadism ORPHA:3409
Trisomy 13
Ventricular septal defect, Kyphosis, Cryptorchidism, Scoliosis, Atrial septal defect, Displacemen... ORPHA:3378
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Hyperlordo... ORPHA:175
Glycogen Storage Disease Ixc
Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Fasting hypoglycemi... OMIM:613027
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypoplastic vertebral bodies, Platyspondyly, B... OMIM:618641
8P11.2 Deletion Syndrome
Hemolytic anemia, Sacral dimple, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly... ORPHA:251066
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly, Hypoglycemia OMIM:306000
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Splenomegaly, Hypogonadism, Lethargy, Decreased serum testosterone concentr... OMIM:201100
Srd5A3-Cdg
Ataxia, Decreased response to growth hormone stimulation test, Microcytic anemia, Kyphosis, Abnor... ORPHA:324737
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... OMIM:613470
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal form of the vert... ORPHA:3109
Multiple Endocrine Neoplasia, Type Iib
Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Elevated circulating calcitonin concentrati... OMIM:162300
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Lumbar hyperlordosis, Mitral stenosis, Ovoid vertebral bodies, Kyphoscoliosis, Ante... OMIM:253200
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
19P13.12 Microdeletion Syndrome
Hypospadias, Ventricular septal defect, Short neck, Precocious puberty, Cryptorchidism, Kyphosis,... ORPHA:254346
Three M Syndrome 2
Hyperlordosis, Lumbar hyperlordosis, Short neck OMIM:612921
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... OMIM:169400
Bethlem Myopathy
Waddling gait, Lumbar hyperlordosis, Spinal rigidity, Gait disturbance, Scoliosis, Difficulty wal... ORPHA:610
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Lumba... OMIM:250250
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Cryptorchidism, Lumbar hyperlordosis OMIM:602471
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Hypogonadism, Spina bifida occulta ORPHA:2983
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Ataxia, Cardiomegaly, Cryptorchidism, Inability to walk, Gait disturbance, Scoliosis OMIM:618143
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Vertebral... OMIM:230800
Timothy Syndrome
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Hypothyroidism, Tetralogy of Fallot, Paten... OMIM:601005
Hsd10 Disease, Infantile Type
Hypoglycemia, Cardiomegaly, Choreoathetosis, Loss of ambulation, Hypertrophic cardiomyopathy ORPHA:391428
Atypical Rett Syndrome
Kyphosis, Inability to walk, Gait ataxia, Gait disturbance, Scoliosis, Loss of ambulation ORPHA:3095
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Baralle-Macken Syndrome
Inability to walk, Kyphosis OMIM:619255
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypoglycemia, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irregu... ORPHA:264580
Oculoskeletodental Syndrome
Hepatomegaly, Splenomegaly, Cryptorchidism, Thoracic kyphosis, Scoliosis, Hypothyroidism OMIM:618440
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites ORPHA:2414
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... ORPHA:15
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test, Testicular neo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test, Testicular neo... ORPHA:363958
Diastrophic Dysplasia
Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ... ORPHA:628
Pelvis-Shoulder Dysplasia
Waddling gait, Lumbar hyperlordosis, Prominent protruding coccyx, Abnormal form of the vertebral ... ORPHA:2839
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... ORPHA:2635
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Spina bifida occulta, Scoliosis, Hyperlordosis ORPHA:2780
Cowden Syndrome 5
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom... OMIM:615108
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Cowden Syndrome 6
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom... OMIM:615109
Cowden Syndrome 1
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scolio... OMIM:158350
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Lumbar hyperlordosis, Decreased response to growth hormone stimulation test, Lumbar ky... OMIM:619234
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Microphthalmia, Syndromic 9
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu... OMIM:601186
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Kyphosis, Pituitary a... OMIM:300942
Saethre-Chotzen Syndrome
Cryptorchidism, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:794
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Kyphosis, Irregular menstruation, Uterine leiomyoma, Platyspondyly OMIM:616482
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp... ORPHA:1427
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Secundum atrial septal defect, Kyphosis, Cryptorchidism, Micropenis, Scolio... OMIM:619951
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Seckel Syndrome 7
Hypoplasia of the uterus, Lumbar scoliosis, Primary amenorrhea, Central hypothyroidism OMIM:614851
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Spinal rigidity, Scoliosis, Short neck ORPHA:75840
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Gait disturbance, Scoliosis ORPHA:2181
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Weismann-Netter Syndrome
Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Anemia ORPHA:3344
Müllerian Aplasia And Hyperandrogenism
Short neck, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abn... ORPHA:247768
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Congenital Muscular Dystrophy With Cerebellar Involvement
Cardiomyopathy, Lumbar hyperlordosis ORPHA:370959
Sandhoff Disease
Hepatomegaly, Ataxia, Cardiomegaly, Hepatosplenomegaly, Impotence OMIM:268800
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Small scrotum, Hypogonadism, Hyperlordosis ORPHA:3253
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Kyphosis, Jaundice, Splenomegaly, Unstead... OMIM:615512
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Abnormally s... ORPHA:800
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Kyphosis, Hypoplasia of penis, Short neck ORPHA:3082
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Shor... OMIM:253220
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Kyphosis OMIM:618138
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Dysplastic sacrum, Severe platyspondyly, Short neck OMIM:613320
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Truncus arteriosus OMIM:616589
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Dyggve-Melchior-Clausen Disease
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... OMIM:223800
Smith-Mccort Dysplasia 2
Hyperlordosis, Platyspondyly, Hypoplasia of the odontoid process, Short neck OMIM:615222
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis ORPHA:404440
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom... OMIM:300967
Cholesteryl Ester Storage Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Portal hypertension, Hypersplenism, ... OMIM:278000
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies,... ORPHA:2916
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Pfeiffer Syndrome
Hyperlordosis, Short neck ORPHA:710
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Short neck, Splenomegaly, Panc... OMIM:235255
Emanuel Syndrome
Sacral dimple, Truncus arteriosus, Ventricular septal defect, Kyphosis, Cryptorchidism, Aortic va... OMIM:609029
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Scoliosis OMIM:615834
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Hurler-Scheie Syndrome
Splenomegaly, Kyphosis, Scoliosis, Hepatomegaly OMIM:607015
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Absent external genitalia, Hemivertebrae, Aplasia ... OMIM:271520
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar hyperlordosis, Kyphoscoliosis, Congenital hypothyroidism, Platyspondyly, Thoracic kyphosis... OMIM:271510
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Ketotic hypoglycemia, Splenomegaly, Irregular menstruation, Hepatocel... ORPHA:79240
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis, Mitral valve prolapse ORPHA:137834
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Hyperlordosis, Inability to walk, Scoliosis, Difficulty walking, Left... ORPHA:365
Wolman Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,... ORPHA:75233
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Marden-Walker Syndrome
Hypospadias, Dextrocardia, Short neck, Cryptorchidism, Kyphosis, Scoliosis, Micropenis OMIM:248700
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Rhizomelic Syndrome, Urbach Type
Kyphosis, Pulmonic stenosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Gait disturbance ORPHA:85193
Trichorhinophalangeal Syndrome Type 1
Scoliosis, Hyperlordosis ORPHA:77258
Ruvalcaba Syndrome
Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology ORPHA:3121
Hurler Syndrome
Hepatomegaly, Short neck, Hypoplasia of the odontoid process, Kyphosis, Splenomegaly, Enlarged to... OMIM:607014
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Distal Deletion 10Q
Lumbar hyperlordosis, Ataxia, Unsteady gait, Atrial septal defect, Spina bifida occulta ORPHA:96148
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Enlarged kidney OMIM:618272
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Ataxia, Hyperlordosis, Abnormal T cell subset distribution, B lymphocytopenia, Decreased proporti... ORPHA:221139
Arthrogryposis, Distal, Type 4
Hypoplastic labia majora, Kyphosis, Lumbar scoliosis, Scoliosis OMIM:609128
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Spina bifida occulta OMIM:169550
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten... OMIM:616028
Intellectual Developmental Disorder, Autosomal Dominant 29
Cryptorchidism, Lumbar hyperlordosis, Hyperlordosis OMIM:616078
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... ORPHA:822
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Kyphosis, Gait ataxia ORPHA:500180
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Ventricular septal defect, Kyphoscoliosis, Kyphosis, Cryptorchidism, Reduced alpha/b... OMIM:301040
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreased serum leptin, Decreased fert... OMIM:269700
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Scoliosis OMIM:609008
Holt-Oram Syndrome
Ventricular septal defect, Kyphosis, Anomalous pulmonary venous return, Hypoplastic left heart, S... ORPHA:392
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Akinesia, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Ascites... OMIM:608013
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Spina bifida occulta OMIM:617466
Opitz-Kaveggia Syndrome
Sacral dimple, Lumbar hyperlordosis, Hypospadias, Short neck, Cryptorchidism, Abnormal heart morp... OMIM:305450
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy ORPHA:85414
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Kyphosis, Pituitary adenoma, Increased circulating ACTH level, Glucos... OMIM:219090
Cantú Syndrome
Abnormal heart valve morphology, Ovoid vertebral bodies, Cardiomegaly, Short neck, Cuboid-shaped ... ORPHA:1517
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genita... ORPHA:90794
Langer Mesomelic Dysplasia
Lumbar hyperlordosis OMIM:249700
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... ORPHA:96191
Hallermann-Streiff Syndrome
Choreoathetosis, Cryptorchidism, Scoliosis, Hyperlordosis OMIM:234100
Refsum Disease, Classic
Cardiomyopathy, Ataxia, Cardiomegaly OMIM:266500
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... OMIM:208540
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Short neck, Splenomegaly, Hepatitis, Scoliosis, Ant... ORPHA:584
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Thoracolumbar scoliosis, Portal hypertension, Pancreatic cysts, ... OMIM:610199
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Kyphosis, Cryptorchidism, Dilated cardiomyopathy, Increased mean corpu... ORPHA:261250
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Coronal cleft vertebrae, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly OMIM:215150
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Hepatosplenome... OMIM:309900
Noonan Syndrome 14
Short neck, Cryptorchidism, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic card... OMIM:619745
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Koolen-De Vries Syndrome
Vertebral fusion, Hypospadias, Bicuspid aortic valve, Kyphosis, Cryptorchidism, Vertebral segment... ORPHA:96169
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated cardiomyopathy, Cholestasis, Lym... OMIM:615895
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Fetal ascites, Micropenis, Hepatic steatos... OMIM:619503
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Decreased fertility ... OMIM:608594
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Acromesomelic Dysplasia 1
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... OMIM:602875
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Waddling gait, Lumbar hyperlordosis, Mitral stenosis, Ventricular septal... OMIM:143095
Distal Triplication 15Q
Abnormal external genitalia, Kyphosis, Abnormal heart morphology, Hydrocele testis, Scoliosis, At... ORPHA:314588
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal form of the vertebral bodies, ... ORPHA:904
Thanatophoric Dysplasia
Atrial septal defect, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Harrod Syndrome
Kyphosis, Hypospadias, Scoliosis, Cryptorchidism ORPHA:2115
Micro Syndrome
Hypoplasia of penis, Kyphosis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Sco... ORPHA:2510
Abetalipoproteinemia
Reticulocytosis, Hepatomegaly, Broad-based gait, Ataxia, Kyphoscoliosis, Cardiomegaly, Acanthocyt... ORPHA:14
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Broad-based gait, Short neck, Kyphosis, Hypogonadism, Scoliosis, Decreased t... ORPHA:85293
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Hypoglycem... OMIM:614921
Smith-Mccort Dysplasia 1
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... OMIM:607326
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Cardiomyopathy, Scoliosis, Hyperlordosis ORPHA:258
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:612813
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Hyperlordosis OMIM:190350
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Hyperlordosis, Cryptorchidism, Pineal cyst... OMIM:615873
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Atax... OMIM:212065
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Prader-Willi Syndrome
Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:176270
Frontorhiny
Hypopituitarism, Lumbar hyperlordosis, Diabetes insipidus, Scoliosis ORPHA:391474
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... ORPHA:3464
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Cardiomegaly, Dilated cardiomyopathy, Lipid ... OMIM:608836
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Cardiomegaly, Limb ataxia, Cardiomyopathy, Impotence, Truncal ataxia OMIM:105210
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Kyphosis, Cryptorchidism, Dysplastic tricuspid valve... ORPHA:1724
Meckel Syndrome 14
Short neck, Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Single ventricle OMIM:619879
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturity-onset diabetes of the young,... OMIM:137920
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Pulmonic stenosis, Scolio... OMIM:277600
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiomegaly, Hypoplasia of t... OMIM:252500
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Hypospadias, Ventricular septal defect, Cryptorchidism, Scoliosis, Annular ... OMIM:616975
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
15Q14 Microdeletion Syndrome
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis ORPHA:261190
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty,... OMIM:619718
Oeis Complex
Absence of the sacrum, Bifid uterus, Epispadias, Cryptorchidism, Sacral segmentation defect, Hemi... OMIM:258040
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Short neck ORPHA:171866
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Trisomy 20P
Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Vertebr... ORPHA:261318
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Pelizaeus-Merzbacher Disease
Ataxia, Kyphosis, Choreoathetosis, Gait disturbance, Scoliosis ORPHA:702
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Neonatal hypoglycemia,... OMIM:130650
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Micropenis, Scoliosis, Cryptorchidism ORPHA:364028
Mucopolysaccharidosis Type 3
Hepatomegaly, Ataxia, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Abnormal fo... ORPHA:581
Lymphatic Malformation 6
Splenomegaly, Hydrocele testis, Scoliosis, Atrial septal defect, Intestinal lymphangiectasia, Asc... OMIM:616843
Thanatophoric Dysplasia Type 2
Atrial septal defect, Kyphosis, Platyspondyly ORPHA:93274
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Ventricular septal defect, Kyphosis, Scoliosis, Atrial septal defect, Clitoral hyper... OMIM:616449
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Aicardi-Goutières Syndrome
Diabetes mellitus, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia... ORPHA:51
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Eryt... OMIM:612541
Lateral Meningocele Syndrome
Vertebral fusion, Bicuspid aortic valve, Ventricular septal defect, Short neck, Kyphosis, Cryptor... OMIM:130720
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism OMIM:617713
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Bicornuate uterus, Scoliosis, Butterfly ve... ORPHA:958
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Gait ataxia, Difficulty walking, Micropenis, Neon... ORPHA:457359
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Sacral dimple, Ataxia, Short neck, Hyperlordosis, Precocious puberty, Tip-toe gait, Scoliosis, Ma... OMIM:619950
Stickler Syndrome, Type I
Kyphosis, Mitral valve prolapse, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebr... OMIM:108300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Pagod Syndrome
Situs inversus totalis, Abnormality of the spleen, Agonadism, Hypoplastic left heart, Abnormality... ORPHA:991
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Ataxia, ... ORPHA:77261
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Jaberi-Elahi Syndrome
Broad-based gait, Kyphosis, Inability to walk, Dysmetria, Gait ataxia, Choreoathetosis, Scoliosis OMIM:617988
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Ventricular septal defect, Kyphosis, Cryptorchidism, Scoliosis, Atrial septal defect OMIM:617602
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Kyphosis, Scoliosis OMIM:609541
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Block vertebrae, Hyperlordosis, Short neck, Hypoplasia of the odontoid process,... OMIM:272460
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Shashi-Pena Syndrome
Hypoglycemia, Kyphosis, Scoliosis, Atrial septal defect, Cervical C2/C3 vertebral fusion OMIM:617190
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul... ORPHA:309854
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Abnormality of neutrophils, Thrombocyt... ORPHA:1775
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Kyphosis, Thoracic scoliosis, Ventricular septal defect OMIM:603387
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventricular septal defect, Hypoglycemia, Neonatal hypoglycemia, M... OMIM:619418
Atelis Syndrome 2
Sacral dimple, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... OMIM:620185
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Ataxia, Choreoathetosis, Scoliosis, Atrial septal defect ORPHA:522077
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Glandular hypospadias, Cardiomegaly OMIM:620306
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Cryptorchidism, Hypogonadism, Gait disturbance, Scoliosis, Micropenis ORPHA:500055
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... ORPHA:57777
Achondroplasia
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... OMIM:100800
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Beaking of verte... OMIM:619636
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Lower limb dysmetria, Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Abnormal heart mo... ORPHA:363700
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Difficulty walking, Cardiomegaly OMIM:232300
Arthrogryposis, Distal, Type 5
Kyphosis, Scoliosis OMIM:108145
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypop... OMIM:618419
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Hyperlordosis, Cor pulmonale, Abnormal heart morphology, Scoliosis ORPHA:2020
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Gait ataxia, Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Crisponi Syndrome
Kyphosis, Scoliosis ORPHA:1545
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Hyperlordosis ORPHA:261330
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Hypoplastic right heart, Ventricular septal defect, Short neck, Cryptorchidism, Ky... OMIM:616894
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Increased circulating co... OMIM:219080
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short neck, Splenomegaly, Jaundice, Normochromic anemia, Cholecy... OMIM:611881
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Hypospadias, Kyphoscoliosis, Hyperl... ORPHA:573278
Wieacker-Wolff Syndrome, Female-Restricted
Inability to walk, Kyphosis, Scoliosis, Short neck OMIM:301041
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Ventricular septal defect, Kyphosis, Inability to walk, Male urethral meatus stenosi... ORPHA:464738
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Mitral valve calcification, Broad-based gait, Abnormality of the spleen, Thrombocyt... ORPHA:2072
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Polycystic ovaries, Lethargy ORPHA:137675
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Short neck, Bone marrow hypocellularity, Aplasia of the uterus, Micropenis, A... OMIM:614083
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Kyphosis, Ventricular septal defect OMIM:619909
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Kyphosis, Cryp... OMIM:610443
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Tip-toe gait, Spondylolysis, Scoliosis, Spondylolisthesis ORPHA:2614
Desbuquois Dysplasia 2
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:615777
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis ORPHA:88628
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en... ORPHA:3042
Rett Syndrome
Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia OMIM:312750
Autosomal Recessive Ataxia, Beauce Type
Ataxia, Kyphosis, Dysmetria, Gait disturbance, Scoliosis ORPHA:88644
Cohen Syndrome
Ventricular septal defect, Cryptorchidism, Kyphosis, Neutropenia, Mitral valve prolapse, Scoliosi... ORPHA:193
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Kyphosis, Cryptorchidism, Scoliosis, Micropenis... OMIM:619005
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Okamoto Syndrome
Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum... ORPHA:2729
Mucolipidosis Type Ii
Abnormal mitral valve morphology, Kyphosis, Splenomegaly, Inability to walk, Hepatosplenomegaly, ... ORPHA:576
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Kyphoscoliosis, Kyphosis, Cryptorchidism, Unsteady gait, Inability to walk, Abnormal... ORPHA:3063
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Short neck, Mitral valve prolapse, Pla... OMIM:245600
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Diabetes mellitus, Kyphoscoliosis, Pericardial effusion, Kypho... ORPHA:536532
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Orchitis, Splenomegaly, Abnormal sacroiliac joint morphology, Leukocytosis, Periton... ORPHA:32960
Poland Syndrome
Diabetes mellitus, Hypospadias, Dextrocardia, Short neck, Kyphosis, Cryptorchidism, Hemivertebrae... ORPHA:2911
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anem... OMIM:274000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Kyphosis, Dysmetria, Rectovaginal fistula, Lymphopenia OMIM:619708
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis ORPHA:1883
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Lumbar hemivertebrae, Cardiomegaly ORPHA:2463
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
2P15P16.1 Microdeletion Syndrome
Supernumerary nipple, Kyphosis, Hypogonadism, Gait disturbance, Scoliosis, Decreased testicular size ORPHA:261349
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis OMIM:617061
Postencephalitic Parkinsonism
Bradykinesia, Kyphosis, Camptocormia, Akinesia ORPHA:97349
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Hypospadias, Ventricular septal defect, Precoc... OMIM:194190
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Short neck, Cardiomegaly, Microvesicular hepatic steato... OMIM:300855
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis OMIM:618291
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Cryptorchidism OMIM:619244
Coffin-Lowry Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnormal ao... ORPHA:192
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Ventricular septal defect, Kyphosis, Cryptorchidism, Posterior pituitary hypoplasia,... ORPHA:464311
Multiple Pterygium Syndrome, Escobar Variant
Hypospadias, Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorchidism, Absence of labia majo... OMIM:265000
Wolf-Hirschhorn Syndrome
Sacral dimple, Hypospadias, Abnormal heart valve morphology, Ataxia, Kyphosis, Cryptorchidism, Ab... ORPHA:280
Congenital Myopathy 22A, Classic
Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis OMIM:620351
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte mor... ORPHA:565612
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Pulmonic stenosis, Scolio... OMIM:608328
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Kyphosis, Gait imbalance, Scoliosis, Truncal ataxia OMIM:211530
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... ORPHA:268261
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Ataxia, Follicular thyroid carcinoma, Enlarged ... ORPHA:201
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Kyphosis, Splenomegaly, Enlarged... ORPHA:744
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... ORPHA:699
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Syndromic Diarrhea
Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m... ORPHA:84064
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Abnormalit... ORPHA:79329
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... OMIM:619991
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormal heart valve morphology, Kyphosis, Abnormality of the s... ORPHA:1606
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Short neck, Cryptorchidism, Kyphosis, Vertebral segmentation defect, S... ORPHA:251014
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology... ORPHA:228308
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Hypoglycemia, Neonatal hypoglycemia, Cardiomegaly, Splen... ORPHA:116
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Scoliosis OMIM:161200
Lesch-Nyhan Syndrome
Choreoathetosis, Testicular atrophy, Megaloblastic anemia OMIM:300322
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Phocomelia, Schinzel Type
Hypoplasia of penis, Short neck, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Aplasia of the... ORPHA:2879
Thanatophoric Dysplasia Type 1
Atrial septal defect, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Ventricular septal defect, Kyphosis, Cryptorchidism, ... ORPHA:464306
Autosomal Recessive Robinow Syndrome
Sacral dimple, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog... ORPHA:1507
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab... ORPHA:3384
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Small scrotum, Scoliosis, Cryptorchidism ORPHA:2215
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Scoliosis, Aplasia of the uterus, Unicornuat... OMIM:614527
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Hajdu-Cheney Syndrome
Hepatomegaly, Hypospadias, Mitral stenosis, Ventricular septal defect, Short neck, Hypoplastic 5t... ORPHA:955
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content,... OMIM:261740
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Ullrich Congenital Muscular Dystrophy 1
Kyphosis, Scoliosis, Spinal rigidity OMIM:254090
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Scoliosis OMIM:612918
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Kyphosis, Platyspondyly, Difficulty walking OMIM:618476
Sponastrime Dysplasia
Lumbar hyperlordosis, Hypospadias, Kyphoscoliosis, Precocious puberty, Hyperconvex vertebral body... ORPHA:93357
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Male pseudohermaphroditism, Scoliosis, ... ORPHA:140
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Cockayne Syndrome A
Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Cryptorchidism, Irregular menstruation, Thymic horm... OMIM:216400
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Ataxia, Hypothyroidism, Scoliosis ORPHA:2479
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test,... ORPHA:1855
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Scoliosis OMIM:250420
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
Aspartylglucosaminuria
Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondylolysis, Scoliosis, Neutrope... OMIM:208400
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Parotitis, Impaired glucose tolerance, Microcytic anemia, Cardiomegaly, Splenomegal... OMIM:256040
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular... OMIM:236680
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Inability to walk, Kyphosis, Unsteady gait, Scoliosis OMIM:618493
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Marshall-Smith Syndrome
Thoracic scoliosis, Ventricular septal defect, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplas... OMIM:602535
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Complete atrioventricular canal defect, Scoliosis, Gait ataxia ORPHA:476126
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly, Hydrometrocolpos, Aplasia of the epiglottis, Atrioventricular canal d... OMIM:617088
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Marden-Walker Syndrome
Abnormal penis morphology, Hypospadias, Ventricular septal defect, Dextrocardia, Situs inversus t... ORPHA:2461
Digeorge Syndrome
Pilonidal sinus, Parathyroid agenesis, Ventricular septal defect, Decreased circulating parathyro... OMIM:188400
Alkaptonuria
Vertebral fusion, Mitral valve calcification, Low back pain, Kyphosis, Aortic valve calcification... OMIM:203500
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis, Mitral valve prolapse OMIM:177850
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Hypoplasia of the uterus, Ch... OMIM:309801
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Distal 16P11.2 Microdeletion Syndrome
Kyphosis ORPHA:261222
Branchiooculofacial Syndrome
Hypospadias, Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Duplicati... OMIM:113620
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Ataxia, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Gait ... OMIM:300966
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Scoliosis ORPHA:457284
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... OMIM:201750
Monosomy 9Q22.3
Ovarian fibroma, Short neck, Kyphosis, Cardiac fibroma, Abnormality of the vertebral column ORPHA:77301
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Short neck, Glucose intolerance, Hepatic fibrosis, Atrial septal defect, H... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Short neck, Glucose intolerance, Hepatic fibrosis, Atrial septal defect, H... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Short neck, Glucose intolerance, Hepatic fibrosis, Atrial septal defect, H... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Short neck, Glucose intolerance, Hepatic fibrosis, Atrial septal defect, H... ORPHA:881
Mend Syndrome
Sacral dimple, Kyphosis, Cryptorchidism, Abnormal heart morphology, Aortic valve stenosis ORPHA:401973
Coffin-Siris Syndrome 1
Sacral dimple, Hypospadias, Ventricular septal defect, Kyphosis, Cryptorchidism, Tetralogy of Fal... OMIM:135900
Cdags Syndrome
Kyphosis, Hypospadias, Rectovaginal fistula OMIM:603116
Cockayne Syndrome
Hepatomegaly, Diabetes mellitus, Ataxia, Splenomegaly, Kyphosis, Cryptorchidism, Inability to wal... ORPHA:191
Weaver Syndrome
Hydrocele testis, Kyphosis, Scoliosis, Cryptorchidism OMIM:277590
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis OMIM:607778
Bohring-Opitz Syndrome
Cardiomegaly, Inability to walk, Abnormal cardiac septum morphology, Cholelithiasis, Annular panc... ORPHA:97297
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Short neck, Ky... ORPHA:818
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Kyphosis, Abnormal mitral valve morphology, Scoliosis ORPHA:1969
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Frank-Ter Haar Syndrome
Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Secundum atr... OMIM:249420
Cockayne Syndrome Type 3
Hepatomegaly, Splenomegaly, Kyphosis, Unsteady gait, Cardiomyopathy, Scoliosis, Difficulty walking ORPHA:90324
Cockayne Syndrome B
Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Cryptorchidism, Micropenis OMIM:133540
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Scoliosis, Cardiomegaly ORPHA:91387
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Mitral valve prolapse, Tricuspid valve prolapse, A... OMIM:618371
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... ORPHA:69085
Aspartylglucosaminuria
Hepatomegaly, Splenomegaly, Scoliosis, Anterior beaking of lumbar vertebrae, Macroorchidism, Beak... ORPHA:93
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra... OMIM:259770
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Lumbar hyperlordosis, Kyphoscoliosis, Hemivertebrae, Abnormal heart morpholog... ORPHA:500150
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Kyphosis, Epispadias, Crypto... ORPHA:2658
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Johanson-Blizzard Syndrome
Hepatic fibrosis, Atrial septal defect, Micropenis, Hypothyroidism, Hepatomegaly, Hypospadias, Po... OMIM:243800
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... ORPHA:1677
Iniencephaly
Absent vertebra, Hyperlordosis ORPHA:63259
Rett Syndrome, Congenital Variant
Kyphosis, Athetosis, Scoliosis OMIM:613454
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Hypospadias OMIM:609944
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
Mend Syndrome
Kyphosis, Sacral dimple, Aortic valve stenosis, Cryptorchidism OMIM:300960
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... ORPHA:64
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Mitral valve prolapse OMIM:616914
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Neurofibromatosis Type 1
Ataxia, Abnormality of the endocrine system, Kyphosis, Cryptorchidism, Precocious puberty, Chroni... ORPHA:636
Neu-Laxova Syndrome 1
Ventricular septal defect, Bifid uterus, Short neck, Cryptorchidism, Transposition of the great a... OMIM:256520
Yunis-Varon Syndrome
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... ORPHA:3472
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Scoliosis OMIM:619194
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bifid scrotum, Broad-based gait, Hypospadias, Bicuspid aortic valve, Ventricular septa... OMIM:619475
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... ORPHA:572333
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypoplastic sweat glands, Hyperlordosis ORPHA:73223
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... OMIM:300106
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Mitral valve prolapse, Uterine rupture, Uterin... OMIM:130050
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Tip-toe gait, Scoliosis OMIM:618050
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Osteogenesis Imperfecta
Abnormal endocardium morphology, Ataxia, Cervical kyphosis, Kyphosis, Vertebral compression fract... ORPHA:666
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Pilonidal sinus, Small scrotum, Hypospadias, Short neck, Cryptorchidism, Hemivertebrae, Anteriorl... OMIM:276820
Lymphedema-Distichiasis Syndrome
Kyphosis, Tetralogy of Fallot, Ventricular septal defect OMIM:153400
Norrie Disease
Diabetes mellitus, Cryptorchidism, Uterine rupture, Scoliosis, Delayed puberty, Erectile dysfunction ORPHA:649
Ramon Syndrome
Kyphosis, Enlarged labia minora, Scoliosis OMIM:266270
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Classic Homocystinuria
Kyphosis, Scoliosis, Hepatomegaly ORPHA:394
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Kyphosis, Cryptorchidism, Anemia, Abnormal circulating calcium-phosphate reg... ORPHA:534
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis, Dysdiadochokinesis, Difficulty walking, Dysmetria ORPHA:171629
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Peters Plus Syndrome
Sacral dimple, Hypospadias, Short neck, Cryptorchidism, Bicuspid pulmonary valve, Congenital hypo... ORPHA:709
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Ventricular septal defect, Bifid uterus, Crypt... OMIM:107480
Zttk Syndrome
Absent gallbladder, Ventricular septal defect, Kyphosis, Hemivertebrae, Scoliosis, Atrial septal ... OMIM:617140
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Ventricular septal defect, Short nec... OMIM:261540
17Q11 Microdeletion Syndrome
Precocious puberty, Kyphosis, Glomus jugular tumor, Abnormal heart morphology, Hypertrophic cardi... ORPHA:97685
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Congenital hypothyroidism OMIM:617527
Loeys-Dietz Syndrome
Scoliosis, Uterine rupture ORPHA:60030
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis OMIM:239000
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Sotos Syndrome
Sacrococcygeal teratoma, Hypospadias, Ventricular septal defect, Phimosis, Kyphosis, Cryptorchidi... ORPHA:821
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Hypospadias ORPHA:85199
Plaa-Associated Neurodevelopmental Disorder
Kyphosis ORPHA:521426
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Hypospadias, Bicuspid aortic valve, Kyphoscoliosis, Cryptorchidism, Scoliosis OMIM:309800
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Ataxia, Bilateral cryptorchidism, Kyphosis, Cr... OMIM:259050
Singleton-Merten Syndrome 1
Waddling gait, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Scoliosis, S... OMIM:182250
Pallister-Killian Syndrome
Sacral dimple, Small scrotum, Hypospadias, Ventricular septal defect, Supernumerary nipple, Kypho... OMIM:601803
Wrinkly Skin Syndrome
Kyphosis, Muscular ventricular septal defect, Cryptorchidism, Scoliosis, Atrial septal dilatation OMIM:278250
Cerebrocostomandibular Syndrome
Kyphosis, Ventricular septal defect ORPHA:1393
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Adrenal calcification, Cardiomegaly, Pericardial effusion, Hepatic calci... ORPHA:51608
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Difficulty walking, Scoliosis OMIM:619482
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Coffin-Lowry Syndrome
Uterine prolapse, Kyphosis, Scoliosis, Lumbar kyphosis OMIM:303600
Occipital Horn Syndrome
Kyphosis, Jaundice, Hepatitis, Cholestasis, Platyspondyly, Scoliosis ORPHA:198
Marfan Syndrome
Mitral valve calcification, Kyphosis, Mitral valve prolapse, Scoliosis, Spondylolisthesis ORPHA:558
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Lowe Oculocerebrorenal Syndrome
Kyphosis, Platyspondyly, Scoliosis, Cryptorchidism OMIM:309000
Stickler Syndrome
Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Mitral valve prolapse, Pl... ORPHA:828
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Kyphosis, Cryptorchidism, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral ... ORPHA:2273
Vascular Ehlers-Danlos Syndrome
Hypospadias, Abnormal heart valve morphology, Cryptorchidism, Cystocele, Mitral valve prolapse, U... ORPHA:286
Viss Syndrome
Ventricular septal defect, Coronary sinus enlargement, Kyphosis, Patent foramen ovale, Hypereosin... OMIM:619472
Occipital Horn Syndrome
Kyphosis, Platyspondyly OMIM:304150
Yunis-Varon Syndrome
Absent nipple, Hypospadias, Anterior concavity of thoracic vertebrae, Ventricular septal defect, ... OMIM:216340

Histopathology

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

There is no histopathology data for Prss35

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Prss35.

No publications found that use IMPC mice or data for Prss35.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Prss35tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Prss35em1(IMPC)Ccpcz Inter-exon deletion Mice
Prss35tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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