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Gene: Rnf148 MGI:1918550

Gene Summary

Name:

ring finger protein 148

Synonyms:

4933432M07Rik, Greul3

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
kyphosis	Rnf148^{em1(IMPC)Ccpcz}	HOM	Early adult	2.05×10^-05
decreased thigmotaxis	Rnf148^{em1(IMPC)Ccpcz}	HOM	Early adult	1.75×10^-07
cryptorchism	Rnf148^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spine curvature	Rnf148^{em1(IMPC)Ccpcz}	HOM	Early adult	2.64×10^-05
abnormal testis morphology	Rnf148^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Rnf148^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Rnf148^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal behavior	Rnf148^{em1(IMPC)Ccpcz}	HOM	Early adult	1.75×10^-07
hyperactivity	Rnf148^{em1(IMPC)Ccpcz}	HOM	Early adult	1.52×10^-07
decreased circulating serum albumin level	Rnf148^{em1(IMPC)Ccpcz}	HOM	Early adult	8.82×10^-05
increased circulating alkaline phosphatase level	Rnf148^{em1(IMPC)Ccpcz}	HOM	Early adult	5.83×10^-05
decreased locomotor activity	Rnf148^{em1(IMPC)Ccpcz}	HOM	Early adult	6.98×10^-08

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Human diseases caused by Rnf148 mutations

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

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

Human diseases associated with Rnf148 (0 diseases)
Human diseases predicted to be associated with Rnf148 (808 diseases)

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

The table below shows human diseases predicted to be associated to Rnf148 by phenotypic similarity.

Disease	Matching phenotypes	Source
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity, Scoliosis	OMIM:616311
Caudal Appendage-Deafness Syndrome	Cryptorchidism, Caudal appendage	ORPHA:1123
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism, Unilateral cryptorchidism	OMIM:219050
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Isolated Glycerol Kinase Deficiency	Cryptorchidism, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis	ORPHA:408
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin...	OMIM:208920
Immunodeficiency 27A	Anorexia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric ly...	OMIM:209950
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Kyphoscoliosis, Abnormal fear-ind...	ORPHA:3077
Spastic Paraplegia 18B, Autosomal Recessive	Inability to walk, Kyphosis, Gait disturbance, Scoliosis	OMIM:611225
7P22.1 Microduplication Syndrome	Cryptorchidism	ORPHA:314034
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	OMIM:607250
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Tip...	OMIM:617404
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Kyphosis, Hypogonadism, Gait disturbance, Abnormality of the ovary	ORPHA:1875
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased respons...	OMIM:618347
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Scoliosis, Hypopitu...	OMIM:619013
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism	OMIM:274205
O'Donnell-Luria-Rodan Syndrome	Aggressive behavior, Cryptorchidism, Kyphosis, Self-injurious behavior, Skin-picking	OMIM:618512
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Kyphoscoliosis, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors	OMIM:301107
Citrullinemia Type Ii	Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper...	ORPHA:247585
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia	OMIM:613752
X-Linked Intellectual Disability, Siderius Type	Cryptorchidism, Decreased testicular size, Scoliosis	ORPHA:85287
Alg6-Cdg	Ataxia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Scoliosis	ORPHA:79320
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho...	OMIM:300718
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia, Let...	OMIM:605899
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomegaly, Lymphaden...	ORPHA:507
Coffin-Siris Syndrome 8	Hyperactivity, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Scoliosis	OMIM:618362
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Alg1-Cdg	Kyphosis, Hypoalbuminemia, Scoliosis	ORPHA:79327
Hao-Fountain Syndrome	Cryptorchidism, Micropenis, Aggressive behavior	OMIM:616863
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Emotional lability, Cryptorchidism	OMIM:309585
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit...	OMIM:616050
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei...	ORPHA:64753
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr...	OMIM:614840
Cdkl5-Deficiency Disorder	Kyphosis, Gait disturbance, Inappropriate laughter, Scoliosis, Bruxism, Difficulty walking, Stere...	ORPHA:505652
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Hyperactivity, Scoliosis, Bruxism	OMIM:300434
Macrocephaly, Acquired, With Impaired Intellectual Development	Attention deficit hyperactivity disorder, Unilateral cryptorchidism, Impulsivity, Aggressive beha...	OMIM:618286
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Hyperactivity	ORPHA:85288
Reni Syndrome	Hypertriglyceridemia, Ataxia, Cryptorchidism, Hypoalbuminemia, Hypogonadism, Micropenis, Lymphopenia	OMIM:617575
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp...	OMIM:615542
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Bethlem Myopathy 2	Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis	OMIM:616471
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Congenital Disorder Of Glycosylation, Type Ih	Short neck, Cryptorchidism, Thrombocytopenia, Elevated circulating creatinine concentration, Hypo...	OMIM:608104
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Inability to walk, Cryptorchidism, Abnormal circulating creatine kinase concentration, Scoliosis	ORPHA:319332
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Hypoalbuminemia, Microcytic anemia	OMIM:618805
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Ataxia, Attention deficit hyperactivity disorder	OMIM:620007
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms	OMIM:239500
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Broad-based gait, Elevated circulating creatine kinase concentration, Hyperlordosi...	OMIM:615290
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinemia, Anemia	OMIM:238700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr...	OMIM:603553
Gordon Syndrome	Cryptorchidism, Scoliosis	ORPHA:376
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis	OMIM:600175
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Spinal rigidity, Scoliosis, Dysphagia	OMIM:618323
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis	ORPHA:1548
8p23.1 deletion syndrome	Cryptorchidism, Hyperactivity	DECIPHER:39
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Scoli...	OMIM:616756
Borjeson-Forssman-Lehmann Syndrome	Kyphosis, Cryptorchidism, Hypoplasia of the prostate, Scoliosis, Micropenis, Scheuermann-like ver...	OMIM:301900
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Hartnup Disorder	Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Cryptorchidis...	ORPHA:370968
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Difficulty walking, Scoliosis	OMIM:617087
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Kyphosis, Cryptorchidism, Abnormal circulating creatine kinase concentration, Sco...	OMIM:618484
Spinal Muscular Atrophy, X-Linked 2	Hypospadias, Elevated circulating creatine kinase concentration, Cryptorchidism, Scoliosis, Micro...	OMIM:301830
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Syndromic X-Linked Intellectual Disability 7	Cryptorchidism, Hypoplasia of penis, Hypogonadism, Micropenis	ORPHA:85274
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Gait disturbance, Ataxia, Scoliosis	ORPHA:101075
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc...	ORPHA:457083
Lopes-Maciel-Rodan Syndrome	Kyphosis, Unsteady gait, Bruxism, Bradykinesia, Agitation, Scoliosis, Dysphagia, Abnormal repetit...	OMIM:617435
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Sandhoff Disease	Splenomegaly, Kyphosis, Ataxia	ORPHA:796
Clcn4-Related X-Linked Intellectual Disability Syndrome	Hyperactivity, Aggressive behavior, Cryptorchidism, Unsteady gait, Depression, Self-injurious beh...	ORPHA:485350
N Syndrome	Cryptorchidism, Hypospadias	ORPHA:2608
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Ataxia, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Micr...	ORPHA:3363
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Repetitive compulsive behavior, Kyphosis, Cryptorchidism, Compulsive behaviors, At...	ORPHA:352490
Immunodeficiency 43	Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat...	OMIM:241600
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Congenital Arthrogryposis With Anterior Horn Cell Disease	Short neck, Cryptorchidism, Kyphosis, Inability to walk, Scoliosis, Difficulty walking	OMIM:611890
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Cryptorchidism, Attention deficit hyperactivity disorder, Shawl scrotum, Micropenis, De...	OMIM:615433
Fetal Akinesia Deformation Sequence 4	Cryptorchidism, Kyphosis, Short neck	OMIM:618393
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hypospadias, Attention deficit hyperactivity disorder	ORPHA:250994
Fragile X Syndrome	Macroorchidism, postpubertal, Hyperactivity, Self-biting, Scoliosis, Recurrent hand flapping, Con...	OMIM:300624
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Ataxia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Gait disturbance, Ataxia, Scoliosis	ORPHA:101078
Ménétrier Disease	Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia, Anorexia	ORPHA:2494
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Self-mutilation	OMIM:604317
Ck Syndrome	Hyperactivity, Hyperlordosis, Aggressive behavior, Kyphosis, Irritability, Scoliosis	OMIM:300831
Usmani-Riazuddin Syndrome, Autosomal Dominant	Hyperactivity, Lumbar hyperlordosis, Aggressive behavior, Depression, Self-injurious behavior, Th...	OMIM:619467
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Cryptorchidism	ORPHA:1074
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cryptorchidism, Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Ab...	OMIM:618917
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Hypospadias, Aggressive behavior, Cryptorchidism, Kyphosis, Gait ataxia, Hypogonad...	OMIM:300354
Ck Syndrome	Hyperactivity, Lumbar hyperlordosis, Kyphoscoliosis, Aggressive behavior, Irritability, Abnormal ...	ORPHA:251383
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatosplenomegaly, Irritability, Hypoalbuminemia, Scoliosis, Micropenis, Self-...	OMIM:619487
Isolated Hemihyperplasia	Cryptorchidism, Scoliosis	ORPHA:2128
3Q13 Microdeletion Syndrome	Cryptorchidism, Hypoplasia of penis, Short neck	ORPHA:1621
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Kyphosis, Inability to walk, Gait ataxia, Dysphagia	ORPHA:500180
King-Denborough Syndrome	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Short n...	OMIM:619542
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres...	OMIM:261600
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy...	ORPHA:261529
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Irritability, Leu...	ORPHA:292
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Cryptorchidism, Ataxia, Gait disturbance	ORPHA:1174
Polydactyly-Myopia Syndrome	Cryptorchidism	ORPHA:2917
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Cryptorchidism	ORPHA:1568
Developmental And Epileptic Encephalopathy 70	Cryptorchidism, Scoliosis	OMIM:618298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Elevated circulating creatine kinase concentration, Hyperlordosis, Inability to walk, Cryptorchid...	OMIM:613156
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Broad-based gait, Hyperactivity, Aggressive behavior, Precocious puberty, Scoliosis	ORPHA:457260
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis	ORPHA:3055
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Kyphoscoliosis, Aggressive behavior	OMIM:615541
Congenital Myopathy 19	Cryptorchidism, Gait disturbance, Scoliosis, Dysphagia	OMIM:618578
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Secondary amenorrhea, Po...	ORPHA:3085
Hepatoportal Sclerosis	Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A...	ORPHA:64743
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Cryptorchidism, Hypoalbuminemia, Scoliosis, Spina bifida occulta	OMIM:235510
Alazami-Yuan Syndrome	Cryptorchidism, Hyperactivity	OMIM:617126
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Cryptorchidism, Kyphosis, Scoliosis, Short neck	ORPHA:178148
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Premature ovarian insufficiency, Kyphoscoliosis, Aggressive behavior, Irritability...	ORPHA:391307
Atypical Rett Syndrome	Restrictive behavior, Kyphosis, Inability to walk, Tongue thrusting, Gait ataxia, Agitation, Inap...	ORPHA:3095
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis, Depression	ORPHA:276630
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal...	ORPHA:540
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro...	ORPHA:248111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ti...	OMIM:606612
Masa Syndrome	Kyphosis, Shuffling gait, Hyperlordosis	OMIM:303350
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Mucopolysaccharidosis-Plus Syndrome	Short neck, Thrombocytopenia, Splenomegaly, Inability to walk, Leukopenia, Hypoalbuminemia, Bone ...	OMIM:617303
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Ataxia, Kyphosis, Unsteady gait, Scoliosis, Loss of ambulation	OMIM:618124
Schaaf-Yang Syndrome	Impulsivity, Kyphosis, Cryptorchidism, Inability to walk, Hypogonadism, Skin-picking, Scoliosis, ...	OMIM:615547
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Reticulocytosis, Broad-based gait, Ataxia, Kyphoscoliosi...	ORPHA:14
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior, ...	OMIM:620023
Non-Distal Duplication 10Q	Cryptorchidism, Scoliosis	ORPHA:1695
Trisomy 4P	Cryptorchidism, Hypospadias, Scoliosis, Short neck	ORPHA:1738
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru...	ORPHA:1667
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Obsessive-compulsive trait, Attention deficit hyperactivity disorder, Hypomagnesemia	OMIM:619908
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre...	OMIM:146110
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Kyphosis, Elevated circulating creatine kinase concentration	OMIM:618138
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Retract...	ORPHA:163976
Congenital Disorder Of Glycosylation, Type Ia	Premature ovarian insufficiency, Ataxia, Hypergonadotropic hypogonadism, Kyphosis, Dysmetria, Hyp...	OMIM:212065
Genetic Steroid-Resistant Nephrotic Syndrome	Irritability, Hypoalbuminemia	ORPHA:656
2Q23.1 Microdeletion Syndrome	Hyperactivity, Hypoplasia of penis, Ataxia, Abnormal repetitive mannerisms, Cryptorchidism, Self-...	ORPHA:228402
Kleefstra Syndrome 2	Self-injurious behavior, Kyphosis, Scoliosis	OMIM:617768
Mehmo Syndrome	Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Agitation, Micropenis	ORPHA:85282
Liver Failure, Infantile, Transient	Irritability, Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Attention deficit hyperactivity disorder	ORPHA:261102
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Dysphagia, Thrombocytopenia	OMIM:254900
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Recessive X-Linked Ichthyosis	Cryptorchidism, Attention deficit hyperactivity disorder	ORPHA:461
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Cryptorchidism, Gait disturbance, Anemia, Hyperlordosis	ORPHA:1192
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva...	OMIM:620103
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Cryptorchidism, Mildly elevated creatine kinase, Scoliosis, Spinal rigidity	ORPHA:486815
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia	OMIM:612716
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi...	OMIM:619827
Primary Intestinal Lymphangiectasia	Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia...	ORPHA:90362
Temple Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Scolio...	ORPHA:254516
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Kyphosis	OMIM:618392
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Short neck, Thrombocytopenia, Inability to walk, Lumbar kyphosis, Hepatospl...	ORPHA:505248
Leukodystrophy, Hypomyelinating, 21	Cryptorchidism, Athetosis, Ataxia, Hypogonadotropic hypogonadism	OMIM:619310
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi...	OMIM:607155
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Gait disturbance, Ataxia, Scoliosis	ORPHA:85317
Intellectual Developmental Disorder, Autosomal Dominant 51	Unilateral cryptorchidism, Aggressive behavior, Cryptorchidism, Fixated interests, Tics, Attentio...	OMIM:617788
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy...	OMIM:242150
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, E...	ORPHA:352447
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis, Compulsive behaviors	OMIM:615761
Winchester Syndrome	Kyphosis	OMIM:277950
Gm1-Gangliosidosis, Type Iii	Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Alg12-Cdg	Hyponatremia, Hypospadias, Cryptorchidism, Hypoalbuminemia, B lymphocytopenia, Scoliosis, Hypocho...	ORPHA:79324
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Hypogonadotropic hypogonadism, Kyphosis, Dysmetria, Scoliosis, Abnormality of the cervica...	ORPHA:48431
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Ataxia, Decreased fertility in females, Abnorm...	ORPHA:79239
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Scoliosis	OMIM:610743
48,Xxyy Syndrome	Hypoplasia of penis, Ataxia, Hypergonadotropic hypogonadism, Cryptorchidism, Depression, Azoosper...	ORPHA:10
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ...	ORPHA:753
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Marburg Hemorrhagic Fever	Back pain, Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hype...	ORPHA:99826
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Scoliosis, Cryptorchidism	ORPHA:2617
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Gait disturbance, Ataxia, Scoliosis	ORPHA:99014
Mcdonough Syndrome	Kyphosis, Scoliosis, Cryptorchidism	ORPHA:2471
Fetal Minoxidil Syndrome	Cryptorchidism	ORPHA:1918
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Gait disturbance, Scoliosis	ORPHA:2429
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Endocardial Fibroelastosis	Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis	ORPHA:2022
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Cryptorchidism, Attention deficit hyperactivity disorder, Gait disturbance, Impulsivity	ORPHA:589905
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbuminemia, Dysphagia, A...	ORPHA:85443
Wagr Syndrome	Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Scoliosis	ORPHA:893
47,Xyy Syndrome	Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ...	ORPHA:8
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis	OMIM:252605
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Depression, Anemia, Decreased circulating carnitine concentration, Decrease...	ORPHA:89842
Combined Oxidative Phosphorylation Deficiency 47	Cryptorchidism, Platyspondyly, Short neck, Dysphagia	OMIM:618958
Seizures-Scoliosis-Macrocephaly Syndrome	Cryptorchidism, Broad-based gait, Scoliosis	ORPHA:466926
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia, Kyphosis, Scoliosis	ORPHA:2598
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin...	OMIM:615084
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Inability to walk, Irritability, Premature pubarche, Cryptorchidism	ORPHA:457205
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Marinesco-Sjogren Syndrome	Ataxia, Elevated circulating creatine kinase concentration, Hypergonadotropic hypogonadism, Kypho...	OMIM:248800
Congenital Muscular Dystrophy, Ullrich Type	Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyphosis, Scoliosis	ORPHA:75840
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Pseudovaginal Perineoscrotal Hypospadias	Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis	OMIM:264600
Mitochondrial Complex I Deficiency, Nuclear Type 15	Irritability, Kyphosis	OMIM:618237
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Pica, Irritability...	OMIM:617796
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Scoliosis, Cryptorchidism	OMIM:619797
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Scoliosis	OMIM:619055
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Scolio...	OMIM:620141
Caudal Duplication	Abnormal penis morphology, Cryptorchidism, Abnormal sacrum morphology, Bifid sacrum, Uterus didel...	ORPHA:1756
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Unsteady gait, Ataxia, Scoliosis	OMIM:300861
Xfe Progeroid Syndrome	Premature ovarian insufficiency, Hypoalbuminemia, Scoliosis	OMIM:610965
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Infertility, Scoliosis, Upper limb dysmetria, Limb dysmetria, Spastic gait	OMIM:614409
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Fused cervical vertebrae, Thoracic kyphosis, Abnormal temper tantrums, Sco...	ORPHA:530983
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Hyperactivity, Impulsivity	OMIM:300143
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Broad-based gait, Hyperactivity, Aggressive behavior, Precocious puberty, Scoliosis	OMIM:300958
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub...	OMIM:251880
N Syndrome	Cryptorchidism, Leukemia, Hypospadias	OMIM:310465
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Impulsivity, Aggressive behavior, Kyphosis, Cryptorchidism, Gait disturbance, Hypogonadism, Atten...	ORPHA:500055
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Broad-based gait, Hypogonadotropic hypogonadism, Cryptorchidism, Dysmetria, Gait ataxia, Dysdiado...	OMIM:619761
Ruvalcaba Syndrome	Kyphosis, Scoliosis, Cryptorchidism	OMIM:180870
Acrofacial Dysostosis, Catania Type	Cryptorchidism, Spina bifida occulta, Hypospadias	OMIM:101805
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hyperactivity, Ataxia, Elevated circulating creatine kinase c...	OMIM:615673
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Micropenis, Agitation, Hypospadias	OMIM:618840
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Syndromic Recessive X-Linked Ichthyosis	Cryptorchidism, Acute leukemia, Hypogonadism, Attention deficit hyperactivity disorder, Testicula...	ORPHA:281090
Wilson Disease	Hypoparathyroidism, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouric...	OMIM:277900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo...	ORPHA:37042
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	ORPHA:98855
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Irritability, Abnormal vertebral morphology, Truncal ataxia, Cryptorchidism	ORPHA:88639
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Micropenis, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Uruguay Faciocardiomusculoskeletal Syndrome	Waddling gait, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Kyphosis, Scol...	OMIM:300280
Tonne-Kalscheuer Syndrome	Broad-based gait, Hypospadias, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Dysp...	OMIM:300978
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Bile duct proliferation, Hypoalbuminemia	OMIM:618329
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hydrocele testis, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Myofibrillar Myopathy 10	Kyphosis, Elevated circulating creatine kinase concentration	OMIM:619040
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	ORPHA:98863
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Kyphosis, Cryptorchidism, Scoliosis, Male hypogonadism	OMIM:615381
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increased vertebral height, Gait ataxia, Truncal a...	OMIM:616817
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Aggressive behavior, Precocious puberty, Cryptorchidism, Self-biting, Gonadal dysg...	ORPHA:3306
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Kyphosis, Depression, Agitation, Macronodular adrenal hyperplasia, Emotional...	OMIM:219080
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579
Clark-Baraitser syndrome	Macroorchidism, Kyphosis, Scoliosis	OMIM:300602
Bardet-Biedl Syndrome 4	Cryptorchidism, Hypogonadism, External genital hypoplasia	OMIM:615982
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Hyperactivity, Scoliosis	OMIM:615834
Infantile-Onset X-Linked Spinal Muscular Atrophy	Cryptorchidism, Mildly elevated creatine kinase, Kyphoscoliosis	ORPHA:1145
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration...	ORPHA:36234
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cryptorchidism, Hypogonadotropic hypogonadism, Scoliosis, Hyperlordosis	ORPHA:1387
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Cryptorchidism, Decreased testicular size, Aggressive behavior	ORPHA:85279
13Q12.3 Microdeletion Syndrome	Cryptorchidism, Hyperactivity, Self-mutilation, Kyphoscoliosis	ORPHA:412035
19P13.12 Microdeletion Syndrome	Hyperactivity, Hypospadias, Short neck, Precocious puberty, Kyphosis, Hyperlipidemia, Cryptorchid...	ORPHA:254346
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Mildly elevated creatine kinase	ORPHA:536516
Proximal Xq28 Duplication Syndrome	Cryptorchidism, Gait disturbance, Hypospadias	ORPHA:1762
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Ab...	ORPHA:100924
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Boomerang Dysplasia	Cryptorchidism, Abnormally ossified vertebrae, Decreased response to growth hormone stimulation t...	ORPHA:1263
Temple Syndrome	Hypertriglyceridemia, Precocious puberty, Cryptorchidism, Scoliosis, Hypercholesterolemia, Decrea...	OMIM:616222
Optic Atrophy 11	Hyperactivity, Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocki...	OMIM:617302
Cri-Du-Chat Syndrome	Hyperactivity, Hypospadias, Aggressive behavior, Short neck, Cryptorchidism, Scoliosis, Difficult...	OMIM:123450
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia	OMIM:141300
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Gait disturbance	OMIM:614898
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Aggressive beha...	ORPHA:85327
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal circulating fatty-acid concentration, Enlarged polycystic ovaries, Pol...	ORPHA:2298
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Hyperactivity, Sacral dimple, Hypospadias, Small scrotum, Septate vagina, Aggressi...	OMIM:270400
Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	ORPHA:98853
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size	OMIM:614880
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Cryptorchidism, Scoliosis, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301039
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis	OMIM:313420
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Compulsive behaviors, Lethargy, ...	ORPHA:398069
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Small scrotum, Cryptorchidism, Gait ataxia, Low frustration tolerance, Microphallu...	OMIM:300486
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Cryptorchidism, Athetosis, Scoliosis, Dysphagia, Microp...	OMIM:619435
Ichthyosis, X-Linked	Cryptorchidism, Testicular neoplasm	OMIM:308100
Trichohepatoenteric Syndrome 1	Hypospadias, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia,...	OMIM:222470
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia	OMIM:617093
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte...	ORPHA:2522
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr...	ORPHA:398079
Becker Nevus Syndrome	Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, Scoliosis, ...	ORPHA:64755
Sialidosis Type 2	Splenomegaly, Kyphosis, Ataxia	ORPHA:87876
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Hypogonadism	ORPHA:3409
Rahman Syndrome	Cryptorchidism, Kyphoscoliosis	OMIM:617537
Dystonia 1, Torsion, Autosomal Dominant	Hyperlordosis, Kyphosis, Inability to walk, Depression, Scoliosis, Dysphagia	OMIM:128100
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Ataxia, Kyphosis, Unsteady gait, Scoliosis, Difficulty walking	ORPHA:464282
Amoebiasis Due To Entamoeba Histolytica	Leukocytosis, Hypoalbuminemia, Anemia	ORPHA:67
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hypoplastic female external genitalia, Scoliosis	OMIM:618577
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Broad-based gait, Hypoplasia of penis, Short neck, Aggressive behavior, Kyphosis, ...	ORPHA:85293
Fg Syndrome 3	Cryptorchidism, Hyperactivity	OMIM:300406
Graves Disease, Susceptibility To, 1	Irritability, Hyperactivity, Polyphagia, Goiter	OMIM:275000
Carpenter Syndrome	External genital hypoplasia, Kyphoscoliosis, Abnormal reproductive system morphology, Cryptorchid...	ORPHA:65759
Stankiewicz-Isidor Syndrome	Sacral dimple, Hyperactivity, Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis	OMIM:617516
Global Developmental Delay With Speech And Behavioral Abnormalities	Precocious puberty, Cryptorchidism, Supernumerary nipple, Attention deficit hyperactivity disorder	OMIM:619243
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnor...	ORPHA:2311
Typical Nemaline Myopathy	Waddling gait, Elevated circulating creatine kinase concentration, Hyperlordosis, Short neck, Kyp...	ORPHA:171436
Acrodysostosis 2 With Or Without Hormone Resistance	Cryptorchidism, Hyperactivity, Hypospadias, Spinal canal stenosis	OMIM:614613
Wt Limb-Blood Syndrome	Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia	OMIM:194350
Image Syndrome	Hypogonadism, Cryptorchidism, Hypospadias	ORPHA:85173
Neurofibromatosis-Noonan Syndrome	Cryptorchidism, Dysphagia	ORPHA:638
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Hyperuricemia, Attention deficit hyperactivity disorder	ORPHA:261222
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Hyperhomocystinemia, Normochromic anem...	OMIM:614857
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Short neck, Precocious puberty, Cryptorchidism, Scoliosis, Attention deficit hyperactivity disord...	OMIM:620073
49,Xxxxy Syndrome	Hypoplasia of penis, Small scrotum, Short neck, Cryptorchidism, Irritability, Azoospermia, Hypogo...	ORPHA:96264
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Cryptorchidism...	OMIM:614732
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Depression, Ovarian cyst, Agitation, Emotional lability	OMIM:610475
48,Xxxy Syndrome	Hypoplasia of penis, Small scrotum, Short neck, Cryptorchidism, Irritability, Azoospermia, Hypogo...	ORPHA:96263
Diastrophic Dysplasia	Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ...	ORPHA:628
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Short neck, Bilateral cryptorchidism, Hypoplasia ...	OMIM:305400
Cockayne Syndrome Type 2	Ataxia, Kyphosis, Cryptorchidism, Gait disturbance, Scoliosis, Difficulty walking, Male hypogonadism	ORPHA:90322
Gorlin Syndrome	Vertebral fusion, Hypogonadotropic hypogonadism, Cryptorchidism, Hemivertebrae, Vertebral wedging...	ORPHA:377
Cutis Laxa, Autosomal Recessive, Type Iiia	Cryptorchidism, Low plasma citrulline, Hyperammonemia, Athetosis, Hypoprolinemia, Hypoornithinemi...	OMIM:219150
Myopathy, Centronuclear, 2	Waddling gait, Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
X-Linked Intellectual Disability Due To Gria3 Mutations	Aggressive behavior, Cryptorchidism, Kyphosis, Scoliosis, Micropenis, Self-mutilation	ORPHA:364028
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Gait disturbance	ORPHA:85193
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Caudal Regression Syndrome	Impulsivity, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Scol...	ORPHA:3027
Postencephalitic Parkinsonism	Camptocormia, Akinesia, Kyphosis, Depression, Bradykinesia, Dysphagia, Abnormal aggressive, impul...	ORPHA:97349
Hall-Riggs Syndrome	Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis	OMIM:234250
Baralle-Macken Syndrome	Inability to walk, Kyphosis	OMIM:619255
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Gait disturbance, Scoliosis	ORPHA:2181
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios...	ORPHA:2635
Autosomal Recessive Spastic Paraplegia Type 77	Kyphoscoliosis, Bilateral cryptorchidism, Neuromuscular dysphagia, Scissor gait, Bradykinesia, Lo...	ORPHA:466722
Birk-Aharoni Syndrome	Inability to walk, Cryptorchidism, Macrocytic anemia, Micropenis	OMIM:620071
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Small scrotum, Hypoalbuminemia, Hypocalcemia, Scoliosis, Unconjugated hyperbilirubi...	OMIM:613658
Rett Syndrome	Kyphosis, Gait apraxia, Truncal ataxia, Gait ataxia, Scoliosis, Bruxism, Stereotypical hand wringing	OMIM:312750
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hypopituitarism, ...	OMIM:300942
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
4Q21 Microdeletion Syndrome	Short neck, Kyphosis, Self-injurious behavior, Scoliosis, Abnormal repetitive mannerisms	ORPHA:238750
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Clitoral hypertrophy, Hypospadias, Female external genitalia in individual with 46,...	ORPHA:90791
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Kyphosis, Cryptorchidism, Attention deficit hyperactivity disorder, Scoliosis, Compulsive behaviors	ORPHA:404440
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Abnormal t...	ORPHA:449291
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis	ORPHA:319199
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Vertebral segmentation defect, Difficulty walking, Scoliosis	ORPHA:531151
Xq12-Q13.3 Duplication Syndrome	Cryptorchidism, Bulimia, Agitation, Elevated circulating creatine kinase concentration	ORPHA:314389
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Cryptorchidism, Kyphosis, Hypoplasia of penis, Short neck	ORPHA:3082
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Scoliosis	ORPHA:3454
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano...	OMIM:619381
3-Methylglutaconic Aciduria, Type V	Ataxia, Hypospadias, Cryptorchidism, Normochromic microcytic anemia, Nonprogressive cerebellar at...	OMIM:610198
Williams-Beuren Region Duplication Syndrome	Cryptorchidism, Gait disturbance, Decreased response to growth hormone stimulation test, Attentio...	OMIM:609757
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis	OMIM:612702
Verloove Vanhorick-Brubakk Syndrome	Cryptorchidism, Abnormality of the parathyroid gland, Abnormal form of the vertebral bodies	ORPHA:3429
Mucopolysaccharidosis, Type Iiic	Hyperactivity, Kyphoscoliosis, Splenomegaly, Ovoid thoracolumbar vertebrae, Dysphagia, Beaking of...	OMIM:252930
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Ataxia, Hypospadias, Repetitive compulsive behavior, Cryptorchidism, Inability to walk, Dysphagia...	OMIM:300260
Mirage Syndrome	Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Hype...	OMIM:617053
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo...	ORPHA:93314
Intellectual Developmental Disorder, Autosomal Dominant 47	Cryptorchidism, Supernumerary nipple, Scoliosis	OMIM:617635
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Cryptorchidism, Dysphagia, Self-injurious behavior, Scoliosis, Attention deficit hyp...	ORPHA:494344
Srd5A3-Cdg	Ataxia, Decreased response to growth hormone stimulation test, Microcytic anemia, Kyphosis, Abnor...	ORPHA:324737
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Scoliosis	OMIM:618234
Chromosome Xq27.3-Q28 Duplication Syndrome	Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased testicular size	OMIM:300869
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Inappropriat...	ORPHA:98794
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased testicul...	OMIM:610628
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx...	OMIM:156530
X-Linked Intellectual Disability, Cilliers Type	Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin l...	ORPHA:163971
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Attention deficit hyperactivity disorder, Scoliosis, Recurrent hand flapping, Abno...	OMIM:617600
Sialidosis Type 1	Ataxia, Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, Gait disturbance, Scoliosis	ORPHA:812
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cryptorchidism, Spastic gait, Scoliosis, Gait ataxia	ORPHA:496790
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Depression, Hypoalbuminemia, Ne...	ORPHA:171
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cryptorchidism, Hypoplasia of penis, Hypospadias	ORPHA:1381
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hyperactivity, Ovoid thoracolumbar vertebrae, Scoliosis	OMIM:252900
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo...	OMIM:614837
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Spina bifida occulta, Ataxia	OMIM:618060
Arthrogryposis, Distal, Type 3	Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Cryptorchidism, Scoliosis	OMIM:114300
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Bresek Syndrome	Cryptorchidism, Hemivertebrae, Decreased testicular size, Scoliosis	ORPHA:85284
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Ataxia	OMIM:251300
Genitopalatocardiac Syndrome	Hypospadias, Kyphosis, Cryptorchidism, Male pseudohermaphroditism, Scoliosis, Gonadal dysgenesis,...	ORPHA:2075
15Q24 Microdeletion Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Kyphosis, Cryptorchidism, Mic...	ORPHA:94065
Congenital Disorder Of Glycosylation, Type Ij	Cryptorchidism, Hypoproteinemia, Aggressive behavior	OMIM:608093
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Congenital Myopathy 9A	Cryptorchidism, Akinesia	OMIM:618822
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Cryptorchidism, Kyphosis, Aggressive behavior	OMIM:619244
Oculoskeletodental Syndrome	Hypercalcemia, Cryptorchidism, Splenomegaly, Thoracic kyphosis, Hypocalcemia, Scoliosis	OMIM:618440
Intellectual Developmental Disorder, Autosomal Recessive 65	Hypospadias, Supernumerary nipple, Aggressive behavior, Cryptorchidism, Unsteady gait, Gait ataxia	OMIM:618109
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia...	ORPHA:456328
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous...	ORPHA:752
Osteoglosphonic Dysplasia	Cryptorchidism, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2645
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Cryptorchidism	ORPHA:3121
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Hypercholesterolemia, Scoliosis, Cryptorchidism	ORPHA:96184
Prune Belly Syndrome	Cryptorchidism, Decreased fertility, Vertebral segmentation defect, Abnormality of the uterus, Sc...	ORPHA:2970
Harrod Syndrome	Kyphosis, Hypospadias, Scoliosis, Cryptorchidism	ORPHA:2115
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Pituitary adenoma, Vertebral compression fracture, Hypokalemia, Oligomenorrhea, Emotion...	OMIM:219090
Intellectual Developmental Disorder, X-Linked 93	Cryptorchidism	OMIM:300659
Alpha-Mannosidosis	Splenomegaly, Kyphosis, Scoliosis, Short neck	ORPHA:61
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Abnormal circulating lipid concentration, Scoliosis, Short neck	ORPHA:3191
Hypomelanosis Of Ito	Kyphosis, Scoliosis	OMIM:300337
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Hypogonadism, Spina bifida occulta	ORPHA:2983
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc...	ORPHA:90363
Gm1 Gangliosidosis	Ataxia, Hyperlordosis, Kyphosis, Splenomegaly, Unsteady gait, Abnormal form of the vertebral bodi...	ORPHA:354
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, Unsteady gait, Scoli...	OMIM:618443
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, Cryptorchidism, Thrombocy...	OMIM:249270
Juvenile Polyposis Of Infancy	Refractory anemia, Freckled genitalia, Hypoalbuminemia, Anemia	ORPHA:79076
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Sjögren-Larsson Syndrome	Kyphosis, Scoliosis	ORPHA:816
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo...	OMIM:614841
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Cryptorchidism, Small scrotum, Scoliosis	ORPHA:1970
Bachmann-Bupp Syndrome	Cryptorchidism, Hyperbilirubinemia, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:619075
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:98793
46,Xy Sex Reversal 8	Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia	OMIM:614279
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism	OMIM:612370
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Ataxia, Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Micropenis, Te...	OMIM:308700
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
X-Linked Intellectual Disability, Pai Type	Hydrocele testis, Cryptorchidism, Gait disturbance	ORPHA:85322
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Aggressive behavior, Kyphosis, Gait ataxia, Attention deficit hyperactivity disord...	ORPHA:476126
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:177904
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Cryptorchidism, Micropenis	OMIM:202150
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cryptorchidism, Hypospadias, Anemia	OMIM:620135
Stt3B-Cdg	Cryptorchidism, Micropenis, Small scrotum, Thrombocytopenia	ORPHA:370924
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Cryptorchidism, Ventral shortening of foreskin, Depression, Displacement of the ur...	ORPHA:95706
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:98754
Purine Nucleoside Phosphorylase Deficiency	Hyperactivity, Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Ab...	ORPHA:760
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Omodysplasia 2	Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Scoliosis, Labia...	OMIM:164745
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Kyphosis, Cryptorchidism, Scoliosis, Attention deficit hypera...	OMIM:619005
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Ambiguous genitalia, male, Male hypogonadi...	ORPHA:90793
Congenital Disorder Of Glycosylation, Type Ix	Cryptorchidism, Micropenis, Small scrotum, Thrombocytopenia	OMIM:615597
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Kyphosis, Platyspondyly, Hypocalcemia, Inappropriate laughter, ...	OMIM:618476
Microphthalmia, Lenz Type	Hypospadias, Hyperlordosis, Cryptorchidism, Kyphosis, Self-injurious behavior, Scoliosis	ORPHA:568
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Aggressive behavior, Kyphosis, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attentio...	OMIM:617061
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Restlessness, Hyperactivity, Aggressive behavior, Cryptorchidism, Low frustration tolerance, Shuf...	OMIM:300534
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis...	OMIM:201810
Chromosome 10Q26 Deletion Syndrome	Hyperactivity, Lumbar hyperlordosis, Broad-based gait, Small scrotum, Short neck, Aggressive beha...	OMIM:609625
Hyperthyroidism, Nonautoimmune	Goiter, Hyperactivity, Increased circulating thyroglobulin level, Thyroid hyperplasia	OMIM:609152
Autosomal Recessive Amelia	Cryptorchidism, Hypoplasia of penis, Small scrotum	ORPHA:1027
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size	OMIM:614897
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Lumbar hyperlordosis, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, ...	ORPHA:2232
Smith-Mccort Dysplasia 1	Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability...	OMIM:607326
Mucopolysaccharidosis, Type Iva	Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc...	OMIM:253000
Weismann-Netter Syndrome	Anemia, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Fetal Akinesia Deformation Sequence	Akinesia, Cryptorchidism, Scoliosis	ORPHA:994
Tatton-Brown-Rahman Syndrome	Cryptorchidism, Myeloid leukemia, Kyphoscoliosis, Aggressive behavior	ORPHA:404443
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia	ORPHA:79396
Autosomal Dominant Centronuclear Myopathy	Cryptorchidism, Mildly elevated creatine kinase, Difficulty walking	ORPHA:169189
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Micropenis	OMIM:619718
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Kyphoscoliosis, Kyphosis, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hemive...	OMIM:301040
Flynn-Aird Syndrome	Kyphosis, Ataxia, Scoliosis	ORPHA:2047
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Hypospadias, Dysmenorrhea, Cryptorchidism, Abnormality of the scrotum, Microphallu...	ORPHA:397590
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Wieacker-Wolff Syndrome, Female-Restricted	Short neck, Inability to walk, Kyphosis, Scoliosis, Dysphagia	OMIM:301041
Cowden Syndrome 5	Kyphosis, Hydrocele testis, Ovarian cyst, Scoliosis, Goiter	OMIM:615108
Cowden Syndrome 6	Kyphosis, Hydrocele testis, Ovarian cyst, Scoliosis, Varicocele, Goiter	OMIM:615109
Koolen-De Vries Syndrome	Vertebral fusion, Hypospadias, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoliosis...	ORPHA:96169
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size	OMIM:616030
Adrenal Hypoplasia, Congenital	Hyponatremia, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia,...	OMIM:300200
Persistent Müllerian Duct Syndrome	Cryptorchidism, Male pseudohermaphroditism	ORPHA:2856
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cryptorchidism, Hypogonadism, External genital hypoplasia	ORPHA:363741
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Supernumerary nipple, Kyphosis, Cryptorchidism, Micropenis, Scoliosis, Leukemia	OMIM:619951
Rin2 Syndrome	Cryptorchidism, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Scoliosis	ORPHA:217335
Trisomy 13	Kyphosis, Cryptorchidism, Scoliosis, Displacement of the urethral meatus, Abnormal morphology of ...	ORPHA:3378
Kallmann Syndrome With Spastic Paraplegia	Hypogonadotropic hypogonadism, Ataxia, Cryptorchidism, Micropenis, Testicular atrophy	OMIM:308750
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Scoliosis, Dysphagia	ORPHA:79107
Ullrich Congenital Muscular Dystrophy 1	Kyphosis, Mildly elevated creatine kinase, Scoliosis, Spinal rigidity	OMIM:254090
Ogden Syndrome	Cryptorchidism, Lethargy, Shuffling gait, Scoliosis	ORPHA:276432
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Supernumerary nipple, Impulsivity, Cryptorchidism, Self-injurious behavior, Attention deficit hyp...	OMIM:618929
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum	ORPHA:168593
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Pelizaeus-Merzbacher Disease	Ataxia, Kyphosis, Choreoathetosis, Gait disturbance, Scoliosis	ORPHA:702
Seckel Syndrome 1	Hyperactivity, Pancytopenia, Hypospadias, Cryptorchidism, Scoliosis, Clitoral hypertrophy	OMIM:210600
Snijders Blok-Fisher Syndrome	Choreoathetosis, Cryptorchidism	OMIM:618604
Stt3A-Cdg	Cryptorchidism, Micropenis, Small scrotum	ORPHA:370921
Prader-Willi Syndrome	Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:176270
Ochoa Syndrome	Cryptorchidism, Polydipsia	ORPHA:2704
Autosomal Dominant Popliteal Pterygium Syndrome	Bifid scrotum, Small scrotum, Cryptorchidism, Nonketotic hyperglycinemia, Hypoplastic labia major...	ORPHA:1300
Marden-Walker Syndrome	Hypospadias, Short neck, Cryptorchidism, Kyphosis, Scoliosis, Micropenis	OMIM:248700
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Kyphosis, Increased mean corpuscular volume, Scoliosis, Dysphagia, Thrombocytopenia	ORPHA:261250
Trisomy 20P	Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Vertebr...	ORPHA:261318
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va...	OMIM:194072
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Kyphosis, Scoliosis	OMIM:609541
Megalocornea-Intellectual Disability Syndrome	Ataxia, Kyphosis, Scoliosis, Hypercholesterolemia, Abnormal repetitive mannerisms	ORPHA:2479
Hypogonadotropic Hypogonadism 25 With Anosmia	Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea	OMIM:618841
Rett Syndrome, Congenital Variant	Kyphosis, Tongue thrusting, Irritability, Athetosis, Scoliosis, Bruxism, Abnormal repetitive mann...	OMIM:613454
Congenital Myopathy 22A, Classic	Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Mildly elevated creatine...	OMIM:620351
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Vaginal hernia, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies,...	ORPHA:2916
Pelger-Huet Anomaly	Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Neu...	OMIM:169400
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoli...	ORPHA:2789
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Broad-based gait, Scoliosis, Hyperlordosis	OMIM:181405
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Kyphosis, Truncal ataxia, Gait imbalance, Scoliosis, Dysphagia	OMIM:211530
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Cryptorchidism, Precocious puberty, Hyperkalemia	OMIM:614736
2P15P16.1 Microdeletion Syndrome	Supernumerary nipple, Kyphosis, Dysphagia, Gait disturbance, Hypogonadism, Scoliosis, Attention d...	ORPHA:261349
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve...	OMIM:608800
8P Inverted Duplication/Deletion Syndrome	Impulsivity, Short neck, Precocious puberty, Cryptorchidism, Aplasia/Hypoplasia of the gallbladde...	ORPHA:96092
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto...	OMIM:183900
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis, Secondary amenorrhea, Depression, Agitation, Emotional lability	OMIM:610489
Congenital Disorder Of Glycosylation, Type Il	Hepatosplenomegaly, Kyphosis, Short neck	OMIM:608776
Gaucher Disease Type 1	Pancytopenia, Anorexia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Leukopenia, Vert...	ORPHA:77259
Micro Syndrome	Hypoplasia of penis, Kyphosis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Sco...	ORPHA:2510
Pitt-Hopkins Syndrome	Sacral dimple, Supernumerary nipple, Short neck, Cryptorchidism, Gait ataxia, Self-injurious beha...	OMIM:610954
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De...	OMIM:203800
Cowden Syndrome 1	Kyphosis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scoliosis, Lymphopenia, Varicocele, ...	OMIM:158350
Spondyloepiphyseal Dysplasia Congenita	Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal...	ORPHA:94068
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperactivity, Lumbar hyperlordosis, Aggressive behavior, Hyperlordosis, Cryptorchidism, Self-inj...	OMIM:616078
Multiple Pterygium-Malignant Hyperthermia Syndrome	Small scrotum, Kyphosis, Cryptorchidism, Abnormal circulating creatine kinase concentration, Scol...	ORPHA:2215
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Cryptorchidism, Spinal canal stenosis, Hyperphosphatemia...	ORPHA:2323
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Hemivertebrae, Abnormal vertebral morphology	ORPHA:77298
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Hypospadias, Cryptorchidism, Head-banging, Attention deficit hyperactivity disorder, Frequent tem...	OMIM:619103
Jaberi-Elahi Syndrome	Broad-based gait, Kyphosis, Inability to walk, Dysmetria, Gait ataxia, Choreoathetosis, Scoliosis	OMIM:617988
Kallmann Syndrome	Dyspareunia, Hypoplasia of penis, Ataxia, Hypogonadotropic hypogonadism, Cryptorchidism, Breast h...	ORPHA:478
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:739
Arthrogryposis, Distal, Type 4	Hypoplastic labia majora, Kyphosis, Lumbar scoliosis, Scoliosis	OMIM:609128
Craniosynostosis With Fibular Aplasia	Cryptorchidism	OMIM:218550
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Scoliosis	ORPHA:137834
Partial Androgen Insensitivity Syndrome	Fused labia majora, Bifid scrotum, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ...	ORPHA:90797
Rhizomelic Syndrome, Urbach Type	Kyphosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Short neck, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis, Hepatosplenomegaly, Hypoca...	ORPHA:1655
Scarf Syndrome	Bifid scrotum, Short neck, Cryptorchidism, Abnormal form of the vertebral bodies, Perineal hyposp...	ORPHA:3134
Developmental Delay, Hypotonia, And Impaired Language	Cryptorchidism, Ataxia, Neutropenia	OMIM:620012
Mend Syndrome	Hyperactivity, Sacral dimple, Aggressive behavior, Kyphosis, Elevated 8-dehydrocholesterol, Eleva...	ORPHA:401973
Cardiofacioneurodevelopmental Syndrome	Asplenia, Kyphosis, Cryptorchidism	OMIM:619123
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Scoliosis, Dysphagia	OMIM:617143
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea	OMIM:244200
Familial Glucocorticoid Deficiency	Hyponatremia, Anorexia, Precocious puberty, Cryptorchidism, Hyperkalemia, Testicular adrenal rest...	ORPHA:361
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hypogonadism	OMIM:601794
Gm1-Gangliosidosis, Type I	Short neck, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Hypoplastic vertebral bodies, Scolios...	OMIM:230500
Alexander Disease	Ataxia, Short neck, Hyperlordosis, Kyphosis, Precocious puberty, Depression, Self-injurious behav...	ORPHA:58
Koolen-De Vries Syndrome	Vertebral fusion, Hyperactivity, Sacral dimple, Impulsivity, Kyphosis, Cryptorchidism, Scoliosis,...	OMIM:610443
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Abnormal repetitive mannerisms, Scoliosis	ORPHA:261144
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple	OMIM:618272
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Sex reversal, Increased circulating renin level, Ambiguous genitalia, male, Hyponatremia, Clitora...	ORPHA:168558
Proteus-Like Syndrome	Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries	ORPHA:2969
Crisponi Syndrome	Kyphosis, Scoliosis	ORPHA:1545
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:2771
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Kyphosis, Abnormal repetitive mannerisms, Cryptorchidism, Posterior pituitary hypopl...	ORPHA:464311
Emanuel Syndrome	Sacral dimple, Kyphosis, Cryptorchidism, Scoliosis, Micropenis	OMIM:609029
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Sex reversal, Increased circulating renin level, Ambiguous genitalia, male, Hyponatremia, Clitora...	ORPHA:289548
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p...	ORPHA:508533
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Arthrogryposis, Distal, Type 5	Kyphosis, Scoliosis	OMIM:108145
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis	ORPHA:88628
Pseudoachondroplasia	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,...	OMIM:177170
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol...	ORPHA:582
Schwartz-Jampel Syndrome	Abnormally ossified vertebrae, Elevated circulating creatine kinase concentration, Hyperlordosis,...	ORPHA:800
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Broad-based gait, Ataxia, Cryptorchidism, Dysmetria, Dysdiadochokinesis, Gait distur...	OMIM:616541
Autosomal Recessive Ataxia, Beauce Type	Ataxia, Kyphosis, Dysmetria, Gait disturbance, Scoliosis	ORPHA:88644
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Scoliosis	ORPHA:1883
Desbuquois Dysplasia 1	Waddling gait, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis	OMIM:251450
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Hypospadias, Anterior pituitary hypoplasia, Kyphosis, Abnormal repetitive manneris...	ORPHA:464306
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:2655
Chromosome 15Q25 Deletion Syndrome	Hyperactivity, Macrocytic anemia, Short neck, Cryptorchidism, Polysplenia, Attention deficit hype...	OMIM:614294
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Short neck, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Hypocalcemia, Micropenis, ...	OMIM:235255
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en...	ORPHA:3042
3M Syndrome	Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility...	ORPHA:2616
Cerebellofaciodental Syndrome	Cryptorchidism, Short neck, Scoliosis, Aggressive behavior	OMIM:616202
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Kyphosis, Splenomegaly, Unsteady gait, No...	OMIM:615512
Wieacker-Wolff Syndrome	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:314580
Noonan Syndrome 9	Cryptorchidism, Short neck	OMIM:616559
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag...	OMIM:309000
Mucopolysaccharidosis, Type Ivb	Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Plat...	OMIM:253010
Distal Duplication 17Q	Accessory spleen, Cryptorchidism, Hyperactivity, Scoliosis	ORPHA:3379
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Kyphosis, Cryptorchidism, Scoliosis, Biconcave vertebral bodies	OMIM:130720
Acrodysostosis 1 With Or Without Hormone Resistance	Cryptorchidism, Irregular menstruation, Spinal canal stenosis, Hypoplastic vertebral bodies, Hype...	OMIM:101800
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Kyphosis, Dysmetria, Rectovaginal fistula, Dysphagia, Lymphopenia	OMIM:619708
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis	OMIM:618291
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Ataxia, Short neck, Oral-pharyngeal dysphagia, Kyphosis, Prominent protruding cocc...	OMIM:300966
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Abnormal intervertebral disk morphology, Hypospadias, Cryptor...	ORPHA:887
Argininemia	Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia, Spastic gait	OMIM:207800
Ring Chromosome 12 Syndrome	Lumbar hyperlordosis, Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Breast hypoplasia	ORPHA:1439
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Dysphagia	OMIM:619909
Renal Hypoplasia, Bilateral	Hyponatremia, Cryptorchidism, Hyperkalemia, Lethargy, Anemia	ORPHA:97362
Noonan Syndrome 14	Cryptorchidism, Kyphosis, Lymphopenia, Short neck	OMIM:619745
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Tip-toe gait, Attention deficit hyperactivity disorder, Scoliosis, Compulsive behaviors...	OMIM:618050
Stickler Syndrome, Type I	Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist...	OMIM:108300
Mucopolysaccharidosis Type 6	Splenomegaly, Kyphosis, Ovoid vertebral bodies, Short neck	ORPHA:583
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonad...	OMIM:615849
Larsen Syndrome	Cryptorchidism, Vertebral segmentation defect, Abnormality of the cervical spine, Scoliosis	ORPHA:503
Beemer-Ertbruggen Syndrome	Ambiguous genitalia, Cryptorchidism, Thrombocytopenia	ORPHA:1237
Phakomatosis Pigmentokeratotica	Precocious puberty, Cryptorchidism, Pheochromocytoma, Scoliosis, Hypophosphatemic rickets	ORPHA:2874
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Aggressive behavior, Inability to walk, Kyphosis, Male urethral meatus stenosis, Sco...	ORPHA:464738
Congenital Heart Defects And Skeletal Malformations Syndrome	Kyphosis, Hypospadias, Scoliosis, Cryptorchidism	OMIM:617602
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Cryptorchidism	ORPHA:1338
Multiple Pterygium Syndrome, Escobar Variant	Hypospadias, Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorchidism, Absence of labia majo...	OMIM:265000
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly	ORPHA:93274
Scarf Syndrome	Bifid scrotum, Short neck, Cryptorchidism, Abnormal form of the vertebral bodies, Perineal hyposp...	OMIM:312830
Distal Triplication 15Q	Hydrocele testis, Kyphosis, Abnormal external genitalia, Scoliosis	ORPHA:314588
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2	Cryptorchidism, Absent nipple, Male urethral meatus stenosis, Hypoplastic nipples	OMIM:616001
Pitt-Hopkins Syndrome	Ataxia, Supernumerary nipple, Short neck, Aggressive behavior, Cryptorchidism, Gait ataxia, Self-...	ORPHA:2896
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:253220
Kbg Syndrome	Vertebral fusion, Short neck, Cryptorchidism, Epispadias, Vertebral arch anomaly, Thoracic kyphos...	OMIM:148050
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused cervical vertebrae, Vert...	ORPHA:1724
3C Syndrome	Hypoplasia of penis, Hypospadias, Short neck, Kyphosis, Hemivertebrae, Scoliosis	ORPHA:7
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:615926
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca...	ORPHA:15
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Ataxia, Cryptorchidism, Leukopenia, Bone marrow hypocellularity, T...	OMIM:613990
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Bicornuate uterus, Scoliosis, Butterfly ve...	ORPHA:958
Deeah Syndrome	Decreased hemoglobin concentration, Cervical hemivertebrae, Decreased response to growth hormone ...	OMIM:619004
8P11.2 Deletion Syndrome	Hemolytic anemia, Sacral dimple, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly...	ORPHA:251066
Atelis Syndrome 2	Sacral dimple, Kyphosis, Thrombocytopenia, Dysmetria, Attention deficit hyperactivity disorder, A...	OMIM:620185
Familial Gestational Hyperthyroidism	Goiter, Hyperactivity, Agitation, Thyroid hyperplasia	ORPHA:99819
Fountain Syndrome	Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3219
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T...	ORPHA:93360
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ataxia, Kyphoscoliosis, Impulsivity, Aggressive behavior, Kyphosis, Cryptorchidism, Pineal cyst, ...	OMIM:300967
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Scoliosis, Attention deficit hyperactivity disorder, Depression	ORPHA:250989
Weaver Syndrome	Kyphosis, Cryptorchidism, Hydrocele testis, Scoliosis, Polyphagia	OMIM:277590
Hurler-Scheie Syndrome	Splenomegaly, Kyphosis, Scoliosis	OMIM:607015
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Bifid scrotum, Abnormal curvature of the vertebral column, Tics, Compulsive behaviors,...	OMIM:619475
Camurati-Engelmann Disease	Waddling gait, Ataxia, Anorexia, Hyperlordosis, Kyphosis, Splenomegaly, Leukopenia, Abnormality o...	ORPHA:1328
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Compulsive behaviors, Loss of ambulation, Sel...	ORPHA:2388
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Dyggve-Melchior-Clausen Disease	Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl...	OMIM:223800
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Goiter, Hyperactivity, Agitation, Thyroid hyperplasia	ORPHA:424
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Broad-based gait, Ataxia, Decreased response to growth hormone stimulation test, H...	ORPHA:268261
Velocardiofacial Syndrome	Hypoparathyroidism, Aggressive behavior, Cryptorchidism, Hypocalcemia, Emotional lability	OMIM:192430
Pmm2-Cdg	Ataxia, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Kyphosc...	ORPHA:79318
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis	OMIM:259420
Coffin-Lowry Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Self-injurious behavior, Gait disturbance, Scoli...	ORPHA:192
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Dysmenorrhea, Elevated circulating luteinizing hormone lev...	ORPHA:90796
Multiple Endocrine Neoplasia, Type Iib	Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Parathyroid hyperplasia, Nodular goiter	OMIM:162300
Pituitary Stalk Interruption Syndrome	Cryptorchidism, Ectopic posterior pituitary, Hypoplasia of penis, Primary amenorrhea	ORPHA:95496
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Pycnodysostosis	Decreased response to growth hormone stimulation test, Hyperlordosis, Kyphosis, Hepatosplenomegal...	ORPHA:763
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Hypertriglyceridemia, Sacral dimple, Kyphoscoliosis, Kyphosis, Cryptorchidism	ORPHA:536532
Matthew-Wood Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of th...	ORPHA:2470
Aniridia-Absent Patella Syndrome	Cryptorchidism	ORPHA:1069
Fanconi Anemia, Complementation Group C	Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Anterior wedging ...	OMIM:227645
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increased circulating ferritin conc...	OMIM:619534
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Kyphoscoliosis, Kyphosis, Cryptorchidism, Unsteady gait, Inability to walk, Abnormal...	ORPHA:3063
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Cryptorchidism, Difficulty walking, Scoliosis, Micropenis, Abnormal repetit...	OMIM:618653
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Phonic tics, Depression, Choreoathetosis, Bradyk...	OMIM:234200
Fanconi Anemia, Complementation Group F	Sacral dimple, Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocyto...	OMIM:603467
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Inability to walk, Kyphosis, Unsteady gait, Scoliosis	OMIM:618493
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Cryptorchidism, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Monosomy 9Q22.3	Hyperactivity, Ovarian fibroma, Short neck, Kyphosis, Abnormality of the vertebral column	ORPHA:77301
Mend Syndrome	Kyphosis, Hyperactivity, Sacral dimple, Cryptorchidism	OMIM:300960
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hyperparathyroidism, Hypoammonemia, Kyphosis, Cryptorchidism, Depression, Hypophosp...	ORPHA:534
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Cohen Syndrome	Cryptorchidism, Kyphosis, Scoliosis, Neutropenia	ORPHA:193
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Kyphoscoliosis, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, ...	OMIM:618820
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Clitoral hypoplasia, Scoliosis, Micropenis	OMIM:616894
Crane-Heise Syndrome	Cryptorchidism, Abnormally ossified vertebrae, Hypoplasia of penis	ORPHA:1512
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Cryptorchidism, Unsteady gait, Scoliosis, Loss of ambulation, Abnormal repeti...	OMIM:616682
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Clitoral hypertrophy, Hypospadias, Scoliosis	OMIM:616449
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Kyphosis, Hypoplastic nipples, Scolio...	ORPHA:79329
Diphallia	Bifid scrotum, Rectoperineal fistula, Hypospadias, Cryptorchidism, Epispadias, Penoscrotal transp...	ORPHA:227
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis	OMIM:603387
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis	OMIM:617190
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Kyphosis, Irregular menstruation, Uterine leiomyoma, Platyspondyly	OMIM:616482
Native American Myopathy	Cryptorchidism, Progressive congenital scoliosis, Inability to walk, Abnormal curvature of the ve...	ORPHA:168572
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short neck, Kyphosis, Male pseudohermaphroditism, Scoliosis, ...	ORPHA:140
2Q31.1 Microdeletion Syndrome	Short neck, Cryptorchidism, Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:251014
Hurler Syndrome	Short neck, Hypoplasia of the odontoid process, Kyphosis, Splenomegaly, Hepatosplenomegaly, Bicon...	OMIM:607014
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Microphthalmia, Syndromic 3	Vertebral fusion, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Cryp...	OMIM:206900
Koolen-De Vries Syndrome Due To A Point Mutation	Overfriendliness, Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation te...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Overfriendliness, Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation te...	ORPHA:363958
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:1798
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:1860
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1005
Tropical Endomyocardial Fibrosis	Splenomegaly, Hypoalbuminemia, Eosinophilia	ORPHA:75565
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test,...	ORPHA:1855
Mucopolysaccharidosis, Type Ii	Hepatosplenomegaly, Kyphosis, Splenomegaly, Short neck	OMIM:309900
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad-based gait, Hypospadias, Short neck, Aggressive behavior, Cryptorchidism, Hypoplastic labia...	ORPHA:495875
Holt-Oram Syndrome	Kyphosis, Scoliosis	ORPHA:392
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Kyphosis, Cryptorchidism, Abnormality of the spleen, Polyphagia...	ORPHA:1606
Neurofibromatosis Type 1	Ataxia, Precocious puberty, Kyphosis, Cryptorchidism, Chronic myelogenous leukemia, Pheochromocyt...	ORPHA:636
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vert...	ORPHA:818
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Primrose Syndrome	Restlessness, Ataxia, Hypergonadotropic hypogonadism, Elevated circulating alpha-fetoprotein conc...	OMIM:259050
Marshall-Smith Syndrome	Thoracic scoliosis, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplasia of the odontoid process,...	OMIM:602535
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Scoliosis, Anorexia	ORPHA:1969
Vacterl With Hydrocephalus	Absence of the sacrum, Cryptorchidism, Hemivertebrae, Abnormal form of the vertebral bodies, Abno...	ORPHA:3412
Oeis Complex	Absence of the sacrum, Bifid uterus, Epispadias, Cryptorchidism, Sacral segmentation defect, Hemi...	OMIM:258040
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Wolf-Hirschhorn Syndrome	Sacral dimple, Ataxia, Hypospadias, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodi...	ORPHA:280
Floating-Harbor Syndrome	Restlessness, Broad-based gait, Hypospadias, Impulsivity, Aggressive behavior, Short neck, Kyphos...	ORPHA:2044
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Cryptorchidism, Difficulty walking, Rectoperineal fistula, Attention deficit hyperactivity disorder	OMIM:618748
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Kyphosis, Splenomegaly, Lon...	ORPHA:744
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Aspartylglucosaminuria	Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondylolysis, Scoliosis, Neutropenia, Macroorch...	OMIM:208400
Cono-Spondylar Dysplasia	Kyphosis, Scoliosis, Short neck	ORPHA:420794
Marden-Walker Syndrome	Abnormal penis morphology, Hypospadias, Kyphosis, Epispadias, Abnormal form of the vertebral bodi...	ORPHA:2461
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Scoliosis	OMIM:619194
Glycerol Kinase Deficiency	Cryptorchidism, Hypertriglyceridemia, Lethargy, Hyperglycerolemia	OMIM:307030
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Autosomal Recessive Robinow Syndrome	Sacral dimple, Hypoplasia of penis, Short neck, Kyphosis, Cryptorchidism, Vertebral segmentation ...	ORPHA:1507
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypospadias, External genital hypoplasia, Kyphosis, Epispadias, Crypto...	ORPHA:2658
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Hyperuricemia, Abnormal form of the vertebral bodies	ORPHA:2769
Somatomammotropinoma	Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormone concentration, K...	ORPHA:314769
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Ataxia, Enlarged polycystic ovaries, Kyphosis, ...	ORPHA:201
Poland Syndrome	Hypospadias, Short neck, Kyphosis, Cryptorchidism, Hemivertebrae, Acute leukemia, Vertebral segme...	ORPHA:2911
Fucosidosis	Kyphosis, Anterior beaking of lumbar vertebrae	ORPHA:349
Cockayne Syndrome A	Ataxia, Splenomegaly, Kyphosis, Cryptorchidism, Irregular menstruation, Gait disturbance, Hypogon...	OMIM:216400
Cdags Syndrome	Kyphosis, Hypospadias, Rectovaginal fistula	OMIM:603116
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Acromegaly	Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormone concentration, K...	ORPHA:963
Meacham Syndrome	Hypoplasia of penis, Abnormality of the spleen, Cryptorchidism, Hydrometrocolpos, Abnormal fallop...	ORPHA:3097
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Difficulty walking, Scoliosis, Dysphagia	OMIM:619482
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Hypospadias	OMIM:609944
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Cockayne Syndrome	Ataxia, Splenomegaly, Kyphosis, Cryptorchidism, Inability to walk, Progressive gait ataxia, Gait ...	ORPHA:191
Alkaptonuria	Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration	OMIM:203500
Diets-Jongmans Syndrome	Cryptorchidism, Hypospadias, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:618846
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, Dysphagia	OMIM:617527
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal form of the ver...	ORPHA:904
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Hypospadias, Precocious puberty, Kyphosis, Cry...	OMIM:194190
Plaa-Associated Neurodevelopmental Disorder	Impaired oropharyngeal swallow response, Kyphosis	ORPHA:521426
Schneckenbecken Dysplasia	Hypoplastic vertebral bodies, Cryptorchidism, Abnormal form of the vertebral bodies, Short neck	ORPHA:3144
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Gait ataxia, Difficulty walking, Micropenis	ORPHA:457359
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Cockayne Syndrome B	Ataxia, Splenomegaly, Kyphosis, Cryptorchidism, Micropenis	OMIM:133540
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres...	OMIM:259770
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesi...	OMIM:201750
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis, Dysdiadochokinesis, Difficulty walking, Dysmetria	ORPHA:171629
Hajdu-Cheney Syndrome	Hypospadias, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Splenomegaly, Scoliosis, Bic...	ORPHA:955
Classic Homocystinuria	Kyphosis, Scoliosis, Anorexia	ORPHA:394
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral en...	OMIM:143095
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Scoliosis	OMIM:619557
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Gait ataxia, Kyphosis, Scoliosis, Hyperlordosis	OMIM:617011
Osteogenesis Imperfecta	Ataxia, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of the vertebr...	ORPHA:666
Coffin-Siris Syndrome 1	Sacral dimple, Hypospadias, Aggressive behavior, Kyphosis, Cryptorchidism, Gait ataxia, Scoliosis...	OMIM:135900
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis	OMIM:616914
Mucolipidosis Type Ii	Splenomegaly, Kyphosis, Inability to walk, Hepatosplenomegaly	ORPHA:576
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Decreased circulating ceruloplasmin concentration, Decreased circulating...	OMIM:304150
Cockayne Syndrome Type 3	Splenomegaly, Kyphosis, Unsteady gait, Difficulty walking, Scoliosis	ORPHA:90324
Norrie Disease	Cryptorchidism, Irritability, Self-injurious behavior, Uterine rupture, Attention deficit hyperac...	ORPHA:649
Frank-Ter Haar Syndrome	Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis	OMIM:249420
Ramon Syndrome	Kyphosis, Enlarged labia minora, Scoliosis	OMIM:266270
Turner Syndrome Due To Structural X Chromosome Anomalies	Premature ovarian insufficiency, Female infertility, Short neck, Kyphosis, Increased circulating ...	ORPHA:99413
Mosaic Monosomy X	Premature ovarian insufficiency, Female infertility, Short neck, Kyphosis, Increased circulating ...	ORPHA:99228
Monosomy X	Premature ovarian insufficiency, Female infertility, Short neck, Kyphosis, Increased circulating ...	ORPHA:99226
Turner Syndrome	Premature ovarian insufficiency, Female infertility, Short neck, Kyphosis, Increased circulating ...	ORPHA:881
Sotos Syndrome	Sacrococcygeal teratoma, Hypospadias, Hypercalcemia, Aggressive behavior, Phimosis, Kyphosis, Cry...	ORPHA:821
Mckusick-Kaufman Syndrome	Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ...	OMIM:236700
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis, Hypospadias	ORPHA:85199
Marfan Syndrome	Kyphosis, Scoliosis, Attention deficit hyperactivity disorder, Spondylolisthesis	ORPHA:558
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Zttk Syndrome	Kyphosis, Hemivertebrae, Scoliosis, Absent gallbladder	OMIM:617140
Cleidocranial Dysplasia 1	Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Scoliosis, Dysphagia	ORPHA:198
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Kyphosis, Cryptorchidism, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral ...	ORPHA:2273
Wrinkly Skin Syndrome	Kyphosis, Scoliosis, Cryptorchidism	OMIM:278250
Spondyloepimetaphyseal Dysplasia, X-Linked	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi...	OMIM:300106
Alström Syndrome	Thoracic scoliosis, Decreased response to growth hormone stimulation test, Hypoplasia of the Leyd...	ORPHA:64
Stickler Syndrome	Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis	ORPHA:828
Coffin-Lowry Syndrome	Uterine prolapse, Kyphosis, Scoliosis, Lumbar kyphosis	OMIM:303600
Cerebrocostomandibular Syndrome	Kyphosis	ORPHA:1393
Branchiooculofacial Syndrome	Hypospadias, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis	OMIM:113620
17Q11 Microdeletion Syndrome	Precocious puberty, Kyphosis, Abnormality of the vertebral column, Pheochromocytoma, Beaking of v...	ORPHA:97685
Yunis-Varon Syndrome	Absent nipple, Hypospadias, Anterior concavity of thoracic vertebrae, Kyphosis, Cryptorchidism, I...	OMIM:216340
Viss Syndrome	Kyphosis, Hypereosinophilia, Scoliosis, Dysphagia, Butterfly vertebrae	OMIM:619472

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 Rnf148

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 Rnf148.

No publications found that use IMPC mice or data for Rnf148.

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MGI Allele	Allele Type	Produced
Rnf148^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice, Tissue
Rnf148^{tm378004(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Rnf148 MGI:1918550

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Rnf148 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data