| 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 |
