Gene Summary

Name:
ring finger protein 148
Synonyms:
4933432M07Rik,  Greul3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
cryptorchism Rnf148em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Rnf148em1(IMPC)Ccpcz HOM Early adult 0.00
hypoactivity Rnf148em1(IMPC)Ccpcz HOM Early adult 6.73×10-08
abnormal behavior Rnf148em1(IMPC)Ccpcz HOM Early adult 8.30×10-08
kyphosis Rnf148em1(IMPC)Ccpcz HOM Early adult 2.51×10-05
enlarged thymus Rnf148em1(IMPC)Ccpcz HOM Early adult 0.00
decreased circulating serum albumin level Rnf148em1(IMPC)Ccpcz HOM Early adult 8.82×10-05
abnormal thymus morphology Rnf148em1(IMPC)Ccpcz HOM Early adult 0.00
hyperactivity Rnf148em1(IMPC)Ccpcz HOM Early adult 3.39×10-07
decreased thigmotaxis Rnf148em1(IMPC)Ccpcz HOM Early adult 8.30×10-08
abnormal spine curvature Rnf148em1(IMPC)Ccpcz HOM Early adult 2.39×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety, Cryptorchidism OMIM:617796
Developmental And Epileptic Encephalopathy 56
Ataxia, Broad-based gait, Anxiety, Attention deficit hyperactivity disorder, Scoliosis OMIM:617665
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Scoliosis OMIM:616311
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Caudal Appendage-Deafness Syndrome
Cryptorchidism, Caudal appendage ORPHA:1123
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Cryptorchidism OMIM:202150
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Macrocephaly, Acquired, With Impaired Intellectual Development
Anxiety, Aggressive behavior, Unilateral cryptorchidism OMIM:618286
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Micropenis, Ambiguous genitalia, Perineal hypospadias, Cryptorchidism, Mic... OMIM:615542
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Difficulty walking, Kyphosis OMIM:617087
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Gait disturbance, Kyphosis, Hypogonadism, Decreased testicular size ORPHA:1875
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia OMIM:607250
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Macroorchidism, Aggressive behavior, Kyphoscoliosis, Shuf... ORPHA:3077
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Spastic Paraplegia 18, Autosomal Recessive
Gait disturbance, Scoliosis, Kyphosis OMIM:611225
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia, Gait ataxia... OMIM:208920
Bifid Nose, Autosomal Dominant
Cryptorchidism OMIM:109740
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Cryptorchidism, Scoliosis, Hyperlordosis ORPHA:408
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia ORPHA:94124
O'Donnell-Luria-Rodan Syndrome
Skin-picking, Self-injurious behavior, Aggressive behavior, Kyphosis, Anxiety, Cryptorchidism OMIM:618512
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size, Scoliosis ORPHA:85287
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypopituitarism, Hypoalbuminemia, Sc... OMIM:619013
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Emotional lability OMIM:309585
Nephrotic Syndrome, Type 14
Hypogonadism, Ataxia, Micropenis, Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia, Cryptorchidism OMIM:617575
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Cryptorchidism, Hypoalbuminemia, Thrombocytopenia, Short neck OMIM:608104
Alg6-Cdg
Decreased LDL cholesterol concentration, Ataxia, Scoliosis, Hypoalbuminemia ORPHA:79320
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size, Microphallus OMIM:614840
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Cryptorchidism, Decreased te... ORPHA:1646
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Kyphosis, Spinal rigidity, Hyperlordosis, Sho... OMIM:300718
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Kyphosis ORPHA:85288
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism DECIPHER:39
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Kyphosis, Ataxia, Inability to walk, Waddling gait, Broad-based gait, Scoliosis, Lumbar... OMIM:616756
Glycine Encephalopathy
Aggressive behavior, Hyperglycinemia, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Hao-Fountain Syndrome
Aggressive behavior, Micropenis, Cryptorchidism OMIM:616863
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Kyphoscoliosis OMIM:615541
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Increased circulating ferritin concentration, Reduced natural killer cell c... OMIM:616050
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Abnormal testis morphology, Scoliosis, Kyphosis ORPHA:1548
Gordon Syndrome
Cryptorchidism, Scoliosis ORPHA:376
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Broad-based gait, Hypoalbuminemia OMIM:618805
Alg1-Cdg
Kyphosis, Scoliosis, Hypoalbuminemia ORPHA:79327
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior, Scoliosis OMIM:618362
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Kyphosis, Short neck, Inability to walk, Cryptorchidism, Scoliosis, Difficulty walking OMIM:611890
Spinocerebellar Ataxia, Autosomal Recessive 8
Dysmetria, Kyphosis, Ataxia, Limb ataxia, Gait ataxia, Scoliosis OMIM:610743
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Ovoid vert... ORPHA:40
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Micropenis, Hypoplasia of penis, Cryptorchidism ORPHA:85274
Fetal Akinesia Deformation Sequence 4
Short neck, Cryptorchidism, Kyphosis OMIM:618393
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:101075
Morm Syndrome
Aggressive behavior, Hyperactivity, Micropenis ORPHA:75858
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Scheuermann-like vertebral changes, Kyphosis, Micropenis, Cervical sp... OMIM:301900
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Leukopenia, Lymphadenopathy, Anemia, Increased total bilirubin, Sp... OMIM:603553
Chromosome 18P Deletion Syndrome
Dystonia, Micropenis, Cryptorchidism, Decreased testicular size, Gonadal dysgenesis OMIM:146390
Distal 7Q11.23 Microduplication Syndrome
Attention deficit hyperactivity disorder, Anxiety, Cryptorchidism ORPHA:261102
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body ORPHA:2777
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Scoliosis, Kyphosis OMIM:300434
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Aggressive behavior, Hy... ORPHA:247585
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Hypoalbuminemia OMIM:618347
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Back pain, Kyphosis, Short neck, Squared-off platyspondyly, Scoli... OMIM:271530
N Syndrome
Hypospadias, Cryptorchidism ORPHA:2608
Leishmaniasis
Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemi... ORPHA:507
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Thoracic kyphosis, Anxiety, Depressi... OMIM:619467
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Sandhoff Disease
Ataxia, Splenomegaly, Kyphosis ORPHA:796
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperphenylalaninemia, Attention deficit hyperactivity diso... OMIM:261600
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Scoli... ORPHA:485350
Gabriele-De Vries Syndrome
Dystonia, Cryptorchidism, Waddling gait OMIM:617557
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Decreased testicular size, Cryptorchidism OMIM:146110
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:101078
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Neuronopathy, Distal Hereditary Motor, Type Viii
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Gait disturbance, Cryptorchidism, Ataxia ORPHA:1174
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
Congenital Muscular Dystrophy With Intellectual Disability
Decreased cervical spine mobility, Elevated circulating creatine kinase concentration, Spinal def... ORPHA:370968
Macrophage Activation Syndrome
Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin concentration,... ORPHA:158061
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Micropenis, Microphallus, Cryptorchidism OMIM:218450
Dystonia 1, Torsion, Autosomal Dominant
Writer's cramp, Torticollis, Blepharospasm, Kyphosis, Hyperlordosis, Torsion dystonia, Scoliosis,... OMIM:128100
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dystonia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholesterolemi... ORPHA:64753
Aicardi-Goutieres Syndrome 9
Dystonia, Self-mutilation, Anemia, Micropenis, Irritability, Hepatosplenomegaly, Hypoalbuminemia,... OMIM:619487
Ck Syndrome
Aggressive behavior, Kyphosis, Hyperactivity, Irritability, Hyperlordosis, Scoliosis OMIM:300831
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hyperactivity, Scoliosis, Broad-based gait, Precocious puberty ORPHA:457260
Fragile X Syndrome
Hyperactivity, Macroorchidism, postpubertal, Congenital macroorchidism, Scoliosis OMIM:300624
Endocardial Fibroelastosis
Cryptorchidism OMIM:226000
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Attention deficit hyperactivity disorder ORPHA:250994
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Kyphosis OMIM:618392
Gm1-Gangliosidosis, Type Iii
Dystonia, Platyspondyly, Kyphosis, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Mood swings, Aggressive behavior, Kyphosis, Hypogonadism, Hyperactivity, Micropenis,... OMIM:300354
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Scoliosis, Kyphosis OMIM:618323
Bethlem Myopathy 2
Elevated circulating creatine kinase concentration, Scoliosis, Kyphosis OMIM:616471
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Attention deficit hyperactivity disorder, Aggressive behavior, Kyphosis OMIM:617061
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, H... ORPHA:398063
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... ORPHA:457083
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Kyphoscoliosis, Hyperactivity, Irritability, Lymphopenia, Premature ovarian ... ORPHA:391307
3Q13 Microdeletion Syndrome
Short neck, Cryptorchidism, Hypoplasia of penis ORPHA:1621
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Depression, Scoliosis, Bipolar affective disorder ORPHA:276630
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia OMIM:246700
Alazami-Yuan Syndrome
Hyperactivity, Cryptorchidism OMIM:617126
Mental Retardation, Autosomal Dominant 57
Kyphosis, Tip-toe gait, Anxiety, Attention deficit hyperactivity disorder, Scoliosis OMIM:618050
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity, Cryptorchidism OMIM:615824
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hypergonadotropic hypogonadism, Hypocholesterolemia, Kyphosis, Ataxia, Premature ... OMIM:212065
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Widow'S Peak Syndrome
Cryptorchidism, Shawl scrotum, Kyphosis OMIM:314570
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Cryptorchidism, Scoliosis, Kyphosis OMIM:618484
Chung-Jansen Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Impulsivity, Anxiety, Cryptorchidism OMIM:617991
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ataxia, Broad... ORPHA:248111
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Cdkl5-Deficiency Disorder
Gait disturbance, Inappropriate laughter, Kyphosis, Scoliosis, Difficulty walking ORPHA:505652
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Masa Syndrome
Shuffling gait, Hyperlordosis, Kyphosis OMIM:303350
Ck Syndrome
Aggressive behavior, Kyphoscoliosis, Hyperactivity, Irritability, Lumbar hyperlordosis ORPHA:251383
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Developmental And Epileptic Encephalopathy 70
Cryptorchidism, Scoliosis OMIM:618298
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Cryptorchidism, Scoliosis, Kyphosis ORPHA:178148
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Cryptorchidism ORPHA:461
Isolated Hemihyperplasia
Cryptorchidism, Scoliosis ORPHA:2128
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Cryptorchidism, Decreased testicular size, Premature ovarian insufficiency ORPHA:261483
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Ambiguous genitalia, male, Micropenis, Perineal hypospadias, Cryptorchidism OMIM:264600
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Hyperactivity, Cryptorchidism, Attention deficit hyperactivity disorder, Scoliosis ORPHA:352490
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Hyperammonemia, Abnormal macrophage morphology, Ir... ORPHA:292
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Hypoalbuminemia, Cryptorchidism, Spina bifida occulta, Scoliosis OMIM:235510
Mend Syndrome
Hyperactivity, Cryptorchidism, Kyphosis OMIM:300960
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Dystonia, Inability to walk, Irritability, Cryptorchidism, Premature pubarche ORPHA:457205
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Kyphosis, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia ORPHA:500180
Spinal Muscular Atrophy, X-Linked 2
Hypospadias, Micropenis, Scoliosis, Cryptorchidism OMIM:301830
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... OMIM:609813
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Splenomegaly, Inability to walk, Hy... OMIM:617303
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Polycystic ovaries, Kyphosis, Hyperlordosis, Hypergonadotropic hypogonadism, Cryptorchidism, Decr... ORPHA:3085
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity, Micropenis, Cryptorchidism OMIM:618504
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
X-Linked Intellectual Disability, Van Esch Type
Increased circulating gonadotropin level, Attention deficit hyperactivity disorder, Male hypogona... ORPHA:163976
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Non-Distal Trisomy 10Q
Cryptorchidism, Scoliosis ORPHA:1695
Trisomy 4P
Hypospadias, Cryptorchidism, Scoliosis, Short neck ORPHA:1738
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypocholesterolemia, Dysmetria, Steppage gait, Kyphoscol... ORPHA:14
Lopes-Maciel-Rodan Syndrome
Dystonia, Bradykinesia, Kyphosis, Unsteady gait, Scoliosis OMIM:617435
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Eosinophilic Gastroenteritis
Leukocytosis, Anemia, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive protein conc... ORPHA:2070
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Macroorchidism, Aggressive behavior, Elevated circulating growth hormone concentra... ORPHA:85327
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Macroorchidism, Impulsivity OMIM:300143
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:99014
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia OMIM:609425
Atypical Rett Syndrome
Inappropriate crying, Gait disturbance, Dystonia, Inappropriate laughter, Kyphosis, Loss of abili... ORPHA:3095
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior, Scoliosis OMIM:617773
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Hypertriglyceridemia OMIM:615924
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Gait disturbance, Cryptorchidism, Anemia, Hyperlordosis ORPHA:1192
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Small scrotum, Urogenital sinus anomaly, Ambiguous genitalia, male, Ambiguous geni... ORPHA:753
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:85317
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Short neck, Hyperactivity, Cryptorchidism, Attention deficit hyperactivity dis... OMIM:614294
Hepatoportal Sclerosis
Leukopenia, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Hypoalbuminemia, Thrombocyto... ORPHA:64743
Seizures-Scoliosis-Macrocephaly Syndrome
Cryptorchidism, Scoliosis, Broad-based gait ORPHA:466926
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin concentration,... ORPHA:540
King-Denborough Syndrome
Elevated circulating creatine kinase concentration, Kyphoscoliosis, Bilateral cryptorchidism, Tho... OMIM:619542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Kyphosis, Tip-toe gait, Hyp... OMIM:606612
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Intellectual Disability, Wolff Type
Hypospadias, Cryptorchidism, Scoliosis ORPHA:3080
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... ORPHA:247598
Wagr Syndrome
Displacement of the urethral meatus, Cryptorchidism, Ambiguous genitalia, Scoliosis ORPHA:893
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Dysmetria, Hypogonadotropic hypogonadism, Abnormality of the cervical spine, Kyphosis, Ataxia, Sc... ORPHA:48431
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbuminemia, Cryptorchidism OMIM:618183
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... ORPHA:1667
Myopathy, Congenital, Progressive, With Scoliosis
Gait disturbance, Cryptorchidism, Scoliosis OMIM:618578
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Schaaf-Yang Syndrome
Kyphosis, Hypogonadism, Inability to walk, Micropenis, Impulsivity, Cryptorchidism, Scoliosis OMIM:615547
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar kyphosis, Leukopenia, Bone marrow hypocellularity, Anemia, Inability to walk, Hepatospleno... ORPHA:505248
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Gait disturbance, Scoliosis, Kyphosis ORPHA:2429
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Impulsivity, Anxiety, Atte... ORPHA:98818
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Self-injurious behavior, Inability to walk, Cryptorchidism, Gait ataxia OMIM:618917
Oliver-Mcfarlane Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of penis, Decreased response to growth hormone stimulat... OMIM:275400
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, Personality disorder ORPHA:2382
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Scoliosis, Cryptorchidism, Decreased testicular size OMIM:616222
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Elevated circulating creatine kinase concentration, Waddling gait, Kyphosis OMIM:618138
Ichthyosis, X-Linked
Cryptorchidism OMIM:308100
Mcdonough Syndrome
Cryptorchidism, Scoliosis, Kyphosis ORPHA:2471
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Hyperactivity, Scoliosis, Broad-based gait, Precocious puberty OMIM:300958
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Vertebral segmentation defect, Scoliosis, Kyphosis ORPHA:2617
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Increased circulating gonadotropin level,... ORPHA:8
Mental Retardation, Autosomal Dominant 51
Cryptorchidism OMIM:617788
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Hyperactivity, Ataxia, Transient hyperphenylalaninemia OMIM:612716
Chromosome 3Q13.31 Deletion Syndrome
Micropenis, Cryptorchidism, Attention deficit hyperactivity disorder, Shawl scrotum, Decreased te... OMIM:615433
Endocardial Fibroelastosis
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism ORPHA:2022
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal circulating... ORPHA:86839
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Decreased testicular size, Cryptorchidism OMIM:614880
Caudal Duplication
Abnormal penis morphology, Abnormal sacrum morphology, Uterus didelphys, Bifid sacrum, Cryptorchi... ORPHA:1756
13Q12.3 Microdeletion Syndrome
Hyperactivity, Cryptorchidism, Self-mutilation, Kyphoscoliosis ORPHA:412035
Chromosome 1P35 Deletion Syndrome
Ataxia, Cryptorchidism OMIM:617930
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Splenomegaly, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Elevated circulating gamma-aminobuty... OMIM:271980
Acrofacial Dysostosis, Catania Type
Hypospadias, Cryptorchidism, Spina bifida occulta OMIM:101805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Elevated circulating creatine kinase concentration, Micropenis, Hyperlordosis, Cryptorchidism, Sc... OMIM:613156
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Micropenis, Decreased testicular size, Cryptorchidism OMIM:616030
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
Mitochondrial Dna Depletion Syndrome 11
Elevated circulating creatine kinase concentration, Spinal deformities, Kyphosis, Spinal rigidity... OMIM:615084
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Emotional lability, Cryptorchidism ORPHA:3459
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Ataxia, Inability to walk, Unsteady gait, Scoliosis OMIM:618443
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Irritability, Kyphosis OMIM:618237
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability, Goiter OMIM:275000
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Unsteady gait, Ataxia, Scoliosis, Kyphosis OMIM:300861
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
48,Xxyy Syndrome
Azoospermia, Depression, Attention deficit hyperactivity disorder, Ataxia, Scoliosis, Hypergonado... ORPHA:10
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Abnormal vertebral morphology, Irritability, Truncal ataxia, Cryptorchidism ORPHA:88639
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Limb dystonia ORPHA:319199
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Classic Galactosemia
Gait disturbance, Dystonia, Gait imbalance, Attention deficit hyperactivity disorder, Ataxia, Pre... ORPHA:79239
Alg12-Cdg
Hypospadias, Hyponatremia, B lymphocytopenia, Hypocholesterolemia, Micropenis, Hypoalbuminemia, T... ORPHA:79324
Congenital Muscular Dystrophy, Ullrich Type
Elevated circulating creatine kinase concentration, Torticollis, Kyphosis, Spinal rigidity, Short... ORPHA:75840
Spastic Paraplegia 53, Autosomal Recessive
Dystonia, Gait disturbance, Kyphosis OMIM:614898
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Anemia, Hypomagnesemia, Reduced proportion of CD4+ effector mem... ORPHA:90362
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Kyphosis, Waddling gait, Ti... OMIM:607155
Hyperlysinemia, Type I
Anemia, Hyperactivity, Hyperlysinemia OMIM:238700
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Ataxia, Cryptorchidism, Hy... ORPHA:228402
Ruvalcaba Syndrome
Cryptorchidism, Scoliosis, Kyphosis OMIM:180870
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis OMIM:618234
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Scoliosis, Kyphosis ORPHA:2598
Tonne-Kalscheuer Syndrome
Hypospadias, Self-injurious behavior, Aggressive behavior, Micropenis, Broad-based gait, Anxiety,... OMIM:300978
N Syndrome
Hypospadias, Cryptorchidism, Leukemia OMIM:310465
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Acute leukemia, Hypogonadism, Cryptorchidism, Attention deficit hyperactivit... ORPHA:281090
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Hypoalbuminemia OMIM:226300
Leukodystrophy, Hypomyelinating, 21
Athetosis, Dystonia, Hypogonadotropic hypogonadism, Ataxia, Cryptorchidism OMIM:619310
Kleefstra Syndrome 2
Self-injurious behavior, Scoliosis, Kyphosis OMIM:617768
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Cryptorchidism, ... OMIM:614837
Avian Influenza
Leukopenia, Elevated circulating creatine kinase concentration, Lymphopenia, Hypoalbuminemia, Thr... ORPHA:454836
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hypospadias, Ataxia, Cryptorchidism, Hyperammonemia OMIM:604273
Non-Syndromic Posterior Hypospadias
Ventral shortening of foreskin, Bifid scrotum, Urethral diverticulum, Displacement of the urethra... ORPHA:95706
Marburg Hemorrhagic Fever
Hyperamylasemia, Thrombocytopenia, Hypokalemia, Leukopenia, Elevated circulating creatine kinase ... ORPHA:99826
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... ORPHA:88618
Mmep Syndrome
Cryptorchidism ORPHA:3434
Proximal Xq28 Duplication Syndrome
Hypospadias, Gait disturbance, Cryptorchidism ORPHA:1762
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Marinesco-Sjogren Syndrome
Elevated circulating creatine kinase concentration, Kyphosis, Ataxia, Hypergonadotropic hypogonad... OMIM:248800
Inverted Duplicated Chromosome 15 Syndrome
Self-biting, Aggressive behavior, Hypogonadism, Hyperactivity, Cryptorchidism, Precocious puberty... ORPHA:3306
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Kyphosis, Ataxia, Waddling gait, Unsteady gait, Scoliosis, Difficulty walking ORPHA:464282
Leydig Cell Hypoplasia
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... ORPHA:755
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Borderline personality disorder, Cryptorchidism, Spina bifida occulta, Ataxia OMIM:618060
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Depression, Impulsivity ORPHA:88616
Baralle-Macken Syndrome
Dystonia, Inability to walk, Kyphosis OMIM:619255
Bardet-Biedl Syndrome 4
Hypogonadism, Cryptorchidism, External genital hypoplasia OMIM:615982
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Cryptorchidism, Macrothrombocytopenia, Anemia o... ORPHA:67044
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Hemifacial Atrophy, Progressive
Ataxia, Kyphosis OMIM:141300
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Abnormal vertebral morphology, Kyphoscoliosis, Truncal ataxia, Hyperlordosis, Cryptorchidism, Gai... OMIM:616817
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aggressive behavior, Cryptorchidism, Scoliosis, Attention deficit hyperactivity disorder OMIM:301039
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Spinal rigidity, Cryptorchidism, Scoliosis, Mildly elevated creatine kinase ORPHA:486815
Idiopathic Juvenile Osteoporosis
Gait disturbance, Vertebral compression fracture, Kyphosis ORPHA:85193
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Hyperactivity, Cryptorchidism, Spinal canal stenosis OMIM:614613
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Anemia, Decreased serum iron, Abnormal circulating selenium concentration, ... ORPHA:89842
Mehmo Syndrome
Micropenis, Hypoplasia of penis, External genital hypoplasia, Cryptorchidism ORPHA:85282
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Myopathy, Congenital, Bailey-Bloch
Cryptorchidism, Kyphoscoliosis OMIM:255995
Image Syndrome
Hypospadias, Cryptorchidism, Hypogonadism ORPHA:85173
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Cryptorchidism, Akinesia OMIM:618822
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Hypogonadism, Hypertriglyceridemia, Cryptorchidism, Scoliosis OMIM:615381
Galactosemia
Gait disturbance, Dystonia, Hypergalactosemia, Gait imbalance, Ataxia, Premature ovarian insuffic... ORPHA:352
Jaberi-Elahi Syndrome
Dystonia, Dysmetria, Kyphosis, Inability to walk, Gait ataxia, Scoliosis OMIM:617988
Cri-Du-Chat Syndrome
Hypospadias, Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Short neck, H... OMIM:123450
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Micropenis, Decreased testicular size, Cryptorchidism, Azoospermia OMIM:614897
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Spastic gait, Kyphosis, Limb dysmetria, Scoliosis OMIM:614409
Clark-Baraitser syndrome
Macroorchidism, Scoliosis, Kyphosis OMIM:300602
Becker Nevus Syndrome
Hypoplastic labia minora, Abnormality of the scrotum, Kyphosis, Spina bifida occulta, Scoliosis, ... ORPHA:64755
Mental Retardation, Autosomal Recessive 65
Hypospadias, Cryptorchidism, Unsteady gait OMIM:618109
19P13.12 Microdeletion Syndrome
Hypospadias, Hyperlipidemia, Self-injurious behavior, Kyphosis, Short neck, Hyperactivity, Scolio... ORPHA:254346
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait ORPHA:411515
Shashi-Pena Syndrome
Scoliosis, Kyphosis OMIM:617190
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity, Decreased response to growth hormone stimulation test OMIM:615286
16P13.2 Microdeletion Syndrome
Skin-picking, Gait disturbance, Aggressive behavior, Kyphosis, Hypogonadism, Attention deficit hy... ORPHA:500055
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Kyphosis, Emotional lability, Anxiety, Dep... OMIM:219080
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Kyphosis OMIM:618291
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormal reticulocyte morphology, Fused cervical vertebrae, Kyphosis, Hyperlordosis,... ORPHA:2522
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Hypoalbuminemia ORPHA:367
Laurence-Moon Syndrome
Displacement of the urethral meatus, Ataxia, Cryptorchidism, Hypoplasia of penis ORPHA:2377
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size OMIM:614858
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryptorchidism, M... ORPHA:752
Mucolipidosis Iii Gamma
Kyphosis, Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Scoliosis OMIM:252605
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Scoliosis, Hyperlordosis, Cryptorchidism ORPHA:1387
Boomerang Dysplasia
Poorly ossified vertebrae, Cryptorchidism, Abnormally ossified vertebrae, Decreased response to g... ORPHA:1263
Glycerol Kinase Deficiency
Cryptorchidism, Hypertriglyceridemia, Lethargy OMIM:307030
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Leukopenia, Abnormal circulating lipid concentration, Enlarge... ORPHA:2298
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Scoliosis, Hypoalbuminemia OMIM:619055
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Ly... ORPHA:37042
3-Methylglutaconic Aciduria, Type V
Hypospadias, Nonprogressive cerebellar ataxia, Normochromic microcytic anemia, Cryptorchidism, De... OMIM:610198
Urban-Rogers-Meyer Syndrome
Kyphosis, Hypogonadism, Short neck, Cryptorchidism, Hypoplasia of penis ORPHA:3409
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Spondylometaphyseal Dysplasia, X-Linked
Thoracolumbar scoliosis, Platyspondyly, Kyphosis OMIM:313420
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Anxiety, Cryptorchidism, Depression, Microphallus OMIM:300957
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Anisospondyly OMIM:224410
Sialidosis Type 2
Ataxia, Splenomegaly, Kyphosis ORPHA:87876
Heart Defects-Limb Shortening Syndrome
Abnormal form of the vertebral bodies, Kyphosis ORPHA:1354
Combined Oxidative Phosphorylation Deficiency 47
Short neck, Cryptorchidism, Platyspondyly OMIM:618958
Developmental And Epileptic Encephalopathy 66
Anemia, Cryptorchidism, Neutropenia, Broad-based gait OMIM:618067
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... ORPHA:98855
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Sex reversal, Cryptorchidism OMIM:614279
Atkin-Flaitz Syndrome
Macroorchidism, Scoliosis, Kyphosis OMIM:300431
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated circulating creatine kinase concentration, Scoliosis, Difficulty walking, Kyphosis OMIM:300280
Myopathy, Centronuclear, 2
Waddling gait, Scoliosis, Hyperlordosis, Kyphosis OMIM:255200
Postencephalitic Parkinsonism
Happy demeanor, Oculogyric crisis, Bradykinesia, Kyphosis, Camptocormia, Akinesia, Abnormal aggre... ORPHA:97349
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Micropenis, Cryptorchidism, Decreased response to growth hormone stim... OMIM:614732
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Kyphosis, Sacral dimple, Hyperlordosis, Scoliosis OMIM:615761
Chromosome 10Q26 Deletion Syndrome
Aggressive behavior, Short neck, Hyperactivity, Micropenis, Broad-based gait, Cryptorchidism OMIM:609625
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Elevated circulating creatine kinase concentration, Spinal deformities, Kyphosis, Spinal rigidity... ORPHA:352447
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity OMIM:301013
Temple Syndrome
Scoliosis, Cryptorchidism, Precocious puberty, Decreased response to growth hormone stimulation test ORPHA:254516
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Self-mutilation, Hyperactivity, Micropenis, Low frustration tolerance, Cryptorchidism, Gait ataxi... OMIM:300486
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter OMIM:618718
X-Linked Intellectual Disability, Cabezas Type
Aggressive behavior, Kyphosis, Hypogonadism, Hyperactivity, Broad-based gait, Scoliosis, Short ne... ORPHA:85293
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Self-injurious behavior, Kyphoscoliosis, Hyperactivity, Irritability, ... ORPHA:447980
X-Linked Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... ORPHA:98863
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hydrocele testis, Hypoalbuminemia ORPHA:567546
Metatropic Dysplasia
Long coccyx, Platyspondyly, Kyphosis, Relatively short spine, Anisospondyly, Caudal appendage, Sc... OMIM:156530
Hyperphosphatasia With Mental Retardation Syndrome 6
Elevated circulating creatine kinase concentration, Hyperactivity, Aggressive behavior, Short neck OMIM:616809
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Increased circulating myelocyte count, Elevated circulating creatine kinase conc... ORPHA:36234
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Decreased testicular size, Cryptorchidism OMIM:610628
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Methylmalonic acidemia, Neutropenia, Anemia, Thrombocytopenia, Cryptorchidis... OMIM:614857
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Cockayne Syndrome Type 2
Gait disturbance, Kyphosis, Ataxia, Male hypogonadism, Cryptorchidism, Scoliosis, Difficulty walking ORPHA:90322
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Mildly elevated creatine kinase, Kyphosis, Tip-toe gait, Hyperlordosis, Scoliosis ORPHA:536516
Carpenter Syndrome
Abnormal reproductive system morphology, Kyphoscoliosis, External genital hypoplasia, Cryptorchid... ORPHA:65759
Al Amyloidosis
Abnormal salivary gland morphology, Anemia, Increased circulating NT-proBNP concentration, Howell... ORPHA:85443
Global Developmental Delay With Speech And Behavioral Abnormalities
Attention deficit hyperactivity disorder, Cryptorchidism, Precocious puberty, Supernumerary nipple OMIM:619243
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Gait disturbance, Scoliosis, Kyphosis ORPHA:2181
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Hyperalaninemia, Hypoalbuminemia OMIM:618329
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Aggressive behavior, Impulsivity ORPHA:101039
Srd5A3-Cdg
Abnormal sacrum morphology, Kyphosis, Ataxia, Microcytic anemia, Decreased response to growth hor... ORPHA:324737
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Penoscrotal hypospadias, Micropenis, Blind vagina, Cryptorchidism, Penile hypospad... ORPHA:456328
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Vertebral segmentation defect, Scoliosis, Difficulty walking ORPHA:531151
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormal intervertebral disk morphology, Abnormal morphology of female internal geni... ORPHA:2311
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism, Sacral dimple OMIM:273390
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Aggressive behavior, Cryptorchidism, Decreased testicular size ORPHA:85279
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Aarskog-Scott Syndrome
Abnormal vertebral segmentation and fusion, Abnormality of the cervical spine, Short neck, Crypto... ORPHA:915
Myopathy With Extrapyramidal Signs
Dystonia, Leukocytosis, Elevated circulating creatine kinase concentration, Hypervalinemia, Extre... OMIM:615673
Dysmyelination With Jaundice
Cryptorchidism, Hypoplasia of penis OMIM:224250
Arthrogryposis, Distal, Type 4
Hypoplastic labia majora, Torticollis, Kyphosis, Scoliosis, Lumbar scoliosis OMIM:609128
Gorlin Syndrome
Vertebral fusion, Vertebral wedging, Hemivertebrae, Hypogonadotropic hypogonadism, Cryptorchidism... ORPHA:377
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Cryptorchidism, Hypoplasia of penis ORPHA:1381
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Cryptorchidism, Mildly elevated creatine kinase ORPHA:1145
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Testicular dysgenesis, Partial development of the penile shaft, Ambiguous genitalia, male, Dyspla... OMIM:608800
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Hyperactivity, Aggressive behavior, Splenomegaly OMIM:252920
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Cryptorchidism, Anxiety, Attention deficit hyperactivity disorder, Scoliosis ORPHA:404440
Cln5 Disease
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... ORPHA:228360
Genitopalatocardiac Syndrome
Hypospadias, Gonadal dysgenesis, male, Kyphosis, Cryptorchidism, Male pseudohermaphroditism, Scol... ORPHA:2075
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hypoplastic female external genitalia, Scoliosis OMIM:618577
Williams-Beuren Region Duplication Syndrome
Gait disturbance, Decreased response to growth hormone stimulation test, Cryptorchidism, Anxiety,... OMIM:609757
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism OMIM:612702
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Anemia, Hypoalbuminemia ORPHA:67
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Hyperactivity, Ataxia, Thoracic kyphosis, Scoliosis ORPHA:530983
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Dystonia, Cryptorchidism ORPHA:404451
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Trichohepatoenteric Syndrome 1
Hypospadias, Increased serum iron, Abnormality of iron homeostasis, Increased mean platelet volum... OMIM:222470
Diastrophic Dysplasia
Abnormal form of the vertebral bodies, Kyphosis, Hypoplastic cervical vertebrae, Cryptorchidism, ... ORPHA:628
Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... ORPHA:98853
Triosephosphate Isomerase Deficiency
Dystonia, Normocytic anemia, Normochromic anemia, Cholelithiasis, Kyphosis, Splenomegaly, Chronic... OMIM:615512
Wt Limb-Blood Syndrome
Hypoplastic anemia, Leukemia, Pancytopenia, Thrombocytopenia, Cryptorchidism OMIM:194350
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Kyphosis, Hypopla... ORPHA:2635
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism OMIM:250951
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Vertebral segmentation defect OMIM:612530
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Abnormal form of the vertebral bodies, Abnormality of the parathyroid gland ORPHA:3429
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Gait disturbance, Cervical platyspondyly, Increased interver... ORPHA:93314
Mental Retardation, Autosomal Dominant 26
Scoliosis, Kyphosis OMIM:615834
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Attention deficit hyperactivity disorder, Hyperuricemia ORPHA:261222
Smith-Magenis Syndrome
Self-mutilation, Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Scoliosis, Head-banging OMIM:182290
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Cryptorchidism, Hypoplasia of penis, Kyphosis ORPHA:3082
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Scoliosis, Anxiety, At... ORPHA:449291
Typical Nemaline Myopathy
Gait disturbance, Elevated circulating creatine kinase concentration, Kyphosis, Spinal rigidity, ... ORPHA:171436
16P12.1P12.3 Triplication Syndrome
Skin-picking, Attention deficit hyperactivity disorder, Hyperactivity, Bilateral cryptorchidism, ... ORPHA:485405
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism OMIM:612370
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Cryptorchidism, Precocious puberty OMIM:614736
Aarskog-Scott Syndrome
Testicular atrophy, Hypoplasia of the odontoid process, Elevated circulating follicle stimulating... OMIM:305400
Sim1-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Skin-picking, Lethargy, Hypogonadotropic hypogonadism, External genital... ORPHA:398079
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism OMIM:615524
Hall-Riggs Mental Retardation Syndrome
Kyphosis, Scoliosis, Platyspondyly, Irregular vertebral endplates OMIM:234250
Omodysplasia 2
Hypospadias, Micropenis, Cryptorchidism OMIM:164745
Stankiewicz-Isidor Syndrome
Hypospadias, Pineal cyst, Hyperactivity, Micropenis, Sacral dimple, Cryptorchidism, Shawl scrotum OMIM:617516
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis ORPHA:3454
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Sialidosis Type 1
Gait disturbance, Abnormal form of the vertebral bodies, Kyphosis, Splenomegaly, Ataxia, Scoliosis ORPHA:812
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Thrombocytosis, Hypokalemia, Polycythemia, Anemia, Hyperbilirubinemi... ORPHA:88673
48,Xxxy Syndrome
Azoospermia, Small scrotum, Hypogonadism, Attention deficit hyperactivity disorder, Abnormal aggr... ORPHA:96263
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Self-injurious behavior, Attention deficit hyperactivity disorder, Cryptorchidism, S... ORPHA:494344
Smith-Mccort Dysplasia 1
Beaking of vertebral bodies, Platyspondyly, Atlantoaxial instability, Kyphosis, Waddling gait, Hy... OMIM:607326
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Osteoglosphonic Dysplasia
Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis ORPHA:2645
Magel2-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Skin-picking, Lethargy, Small scrotum, External genital hypoplasia, Kyp... ORPHA:398069
Fetal Akinesia Deformation Sequence
Cryptorchidism, Scoliosis, Akinesia ORPHA:994
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior OMIM:300558
Myopathy, Congenital Proximal, With Minicore Lesions
Cryptorchidism, Hypoplastic male external genitalia OMIM:618823
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Galloway-Mowat Syndrome 1
Dystonia, Ataxia, Hypoalbuminemia OMIM:251300
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Short neck OMIM:613192
X-Linked Intellectual Disability, Pai Type
Gait disturbance, Cryptorchidism, Hydrocele testis ORPHA:85322
Nicolaides-Baraitser Syndrome
Aggressive behavior, Cryptorchidism, Scoliosis OMIM:601358
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Bile duct proliferation, Small scrotum, Anemia,... OMIM:613658
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Cryptorchidism, Decreased testicular size, Increased circulating gonadotropin level OMIM:300869
Intellectual Developmental Disorder, X-Linked 106
Hypospadias, Cryptorchidism, Decreased testicular size OMIM:300997
X-Linked Intellectual Disability, Cilliers Type
Hypospadias, Increased circulating gonadotropin level, Male hypogonadism, Hypergonadotropic hypog... ORPHA:163971
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Noonan Syndrome 13
Aggressive behavior, Attention deficit hyperactivity disorder, Short neck, Anxiety, Cryptorchidis... OMIM:619087
Bresek Syndrome
Hemivertebrae, Cryptorchidism, Decreased testicular size, Scoliosis ORPHA:85284
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Spastic gait, Cryptorchidism, Gait ataxia, Scoliosis ORPHA:496790
Rasmussen Subacute Encephalitis
Hemidystonia, Hyperactivity, Inability to walk, Emotional lability, Irritability, Attention defic... ORPHA:1929
Ehlers-Danlos Syndrome, Classic-Like, 2
Short neck, Thoracic scoliosis, Cryptorchidism OMIM:618000
Intellectual Developmental Disorder, X-Linked 93
Cryptorchidism OMIM:300659
Harrod Syndrome
Hypospadias, Cryptorchidism, Scoliosis, Kyphosis ORPHA:2115
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Micropenis, Impulsivity, Anxie... OMIM:618929
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Hyperactivity, Splenomegaly OMIM:252900
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thiamine-responsive megaloblastic anemia, Sideroblastic anemia, Ataxia, Thrombocytopenia, Cryptor... OMIM:249270
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Mirage Syndrome
Hypospadias, Hyponatremia, Hyperkalemia, Leukopenia, Anemia, Lymphopenia, Scoliosis, Hypergonadot... OMIM:617053