Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Low-set ears |
ORPHA:436151 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia |
OMIM:619970 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
8p23.1 deletion syndrome |
|
Hyperactivity, Cryptorchidism, Abnormal heart morphology, Atrial septal defect, Atrioventricular ... |
DECIPHER:39 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Hypsarrhythmia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Hyperprolinemia, Type I |
|
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Hyperlysinemia, Type I |
|
Hyperactivity, Anemia |
OMIM:238700 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... |
OMIM:617519 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Hearing impairment, Aggressive behavior |
ORPHA:208441 |
Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... |
ORPHA:98818 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
Hartnup Disorder |
|
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,... |
ORPHA:3077 |
Lennox-Gastaut Syndrome |
|
EEG abnormality, Hyperactivity, EEG with focal sharp slow waves, Aggressive behavior |
ORPHA:2382 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... |
OMIM:600501 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... |
OMIM:619827 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Thrombocytopenia, Hypoplasia of the uterus, Leukopenia, Attention deficit... |
OMIM:619151 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, EEG abnormality, Low-set ears, Bruxism, Abnormal repetiti... |
OMIM:618718 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... |
ORPHA:52368 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... |
ORPHA:206443 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, EEG with generalized polysp... |
ORPHA:163681 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder |
OMIM:617182 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Compulsive behaviors, Reduction of neutrophil motility |
OMIM:266265 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... |
OMIM:614172 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Hyperactivity, Macrotia, Mitral valve prolapse, Self-biting, Recurr... |
OMIM:300624 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa... |
ORPHA:1215 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, EEG with burst suppression, Hypsarrhythmia, Pulmonic stenosis, Atrial septal defect |
OMIM:619239 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Pulmon... |
OMIM:620141 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... |
OMIM:301013 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Macrotia, Irritability, Lymphopenia, Abnormal repetitive mann... |
ORPHA:391307 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Mogs-Cdg |
|
Hepatomegaly, Absent brainstem auditory responses, External genital hypoplasia, Cardiomegaly, Sen... |
ORPHA:79330 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impair... |
ORPHA:3226 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Macrotia, Depression, Mitral valve prolapse, Irritability, Se... |
ORPHA:449291 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Irritability, Optic atrophy |
OMIM:616881 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit... |
ORPHA:100924 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Herpes Simplex Virus Encephalitis |
|
EEG abnormality, Leukocytosis, Neutrophilia, Addictive alcohol use |
ORPHA:1930 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
47,Xyy Syndrome |
|
Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Attention ... |
ORPHA:8 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Sensorineural hearing impairment, Streak ovary |
OMIM:617565 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo... |
ORPHA:3240 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Sensorineural hearing impairment, Streak ovary, Hypergonadotropic hypog... |
OMIM:614129 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab... |
OMIM:610042 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sensorineural hearing im... |
ORPHA:760 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Absent brainstem auditory responses, Cryptorchidism, Optic atrophy, Abnormality of ... |
ORPHA:90321 |
Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
Arthrogryposis, Distal, Type 2A |
|
Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Cryptorchidism, Abnormal... |
ORPHA:401973 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Aggressive behavior, Decreased nerve cond... |
ORPHA:909 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Optic nerve hypoplasia, Vaginal atresia, Attention deficit hyperactivit... |
OMIM:617914 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Conductive hearing impairment |
OMIM:601076 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp... |
OMIM:618280 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Anorexia |
ORPHA:1302 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Abnormal cardiac septum morp... |
ORPHA:3320 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Macrocytic anemia, Ventricular septal defect, Dextrocardia, Posteriorly rotated ea... |
OMIM:614294 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Myocarditis, Leukocytosis |
ORPHA:829 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormal testis morphology, Anemia |
ORPHA:54251 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Sensorineural hearing impairment, Uterus didelphys, Aplasia of the vagina, Pseudo... |
OMIM:146255 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Sensorineural hearing impairment, Agonadism, Sex reversal, Hypopl... |
OMIM:154230 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Progressive sensorineural hearing impairment, Bicornuate uterus, Hypopl... |
OMIM:615300 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Neutrophilia, Addictive alcohol use |
ORPHA:36238 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
Cockayne Syndrome A |
|
Hepatomegaly, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve con... |
OMIM:216400 |
Fanconi Anemia, Complementation Group L |
|
Anotia, Microtia, Aplasia of the uterus, Attention deficit hyperactivity disorder, Low-set ears, ... |
OMIM:614083 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Cockayne Syndrome B |
|
Hepatomegaly, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve con... |
OMIM:133540 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Protruding ear |
ORPHA:247768 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Cupped ear, Microtia, Rectovaginal fistula, Overfolded helix |
OMIM:617466 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobulated spleen, Hypopl... |
OMIM:601186 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Uterus didelphys, Abnormal heart morphology, Aplasia of the uterus, Progressive s... |
ORPHA:2237 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Microtia |
OMIM:614851 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Low-set ears, Aplasia of the uterus, Single ventricle |
OMIM:619879 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Hepatomegaly, Neutrophilia, Abscess |
OMIM:612852 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Apla... |
OMIM:274000 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Pica, Protruding ear, Ovarian cyst, Aplasia of the vagina, Bilateral sensorineura... |
OMIM:614527 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Hypoplasia of the uterus, Ch... |
OMIM:309801 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia, Low-set ears |
OMIM:616258 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior... |
ORPHA:353281 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Chronic lymphatic leu... |
ORPHA:3243 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Norrie Disease |
|
Cryptorchidism, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Irritability, Se... |
ORPHA:649 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Posteriorly rotated ears, Sensorineural hearing impairment, Hypoplastic labia m... |
OMIM:618419 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Familial Mediterranean Fever |
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Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis |
OMIM:249100 |
Pontocerebellar Hypoplasia Type 7 |
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Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
Hyper-Igd Syndrome |
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Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly |
OMIM:260920 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Ventricular septal defect, Hypospadias, Abnormal pinna morphology, Precocious p... |
OMIM:194190 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
Estrogen Resistance |
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Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
Okamoto Syndrome |
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Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum... |
ORPHA:2729 |
Woodhouse-Sakati Syndrome |
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Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Coffin-Siris Syndrome 1 |
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Ventricular septal defect, Hypospadias, Abnormal pinna morphology, Aggressive behavior, Posterior... |
OMIM:135900 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Crimean-Congo Hemorrhagic Fever |
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Hepatomegaly, Pancytopenia, Neutrophilia, Anorexia, Pericardial effusion, Splenomegaly, Myocardit... |
ORPHA:99827 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Popliteal Pterygium Syndrome |
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Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Phocomelia, Schinzel Type |
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Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus, Protruding ear |
ORPHA:2879 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Ventricular septal defect, Hypospadias, Abnormal pinna morphology, Bifid uterus... |
OMIM:236680 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Overfolding of the superior helices, Rectoperineal fistula, Ventricular septal def... |
OMIM:107480 |
Woodhouse-Sakati Syndrome |
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Streak ovary, Hypoplasia of the fallopian tube, Protruding ear, Hypoplasia of the uterus, Abnorma... |
ORPHA:3464 |
Ehlers-Danlos Syndrome, Vascular Type |
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Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin... |
OMIM:130050 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Exstrophy-Epispadias Complex |
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Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Limb-Mammary Syndrome |
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Protruding ear, Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Neu-Laxova Syndrome 1 |
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Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Low... |
OMIM:256520 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
Renal Cysts And Diabetes Syndrome |
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Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens |
OMIM:137920 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Anteriorly displaced genit... |
OMIM:276820 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries, Hypoplasia of the uterus, Low-s... |
ORPHA:572333 |
Vascular Ehlers-Danlos Syndrome |
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Abnormal heart valve morphology, Hypospadias, Cryptorchidism, Cystocele, Aplasia/Hypoplasia of th... |
ORPHA:286 |
Pallister-Killian Syndrome |
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Small scrotum, Ventricular septal defect, Hypospadias, Posteriorly rotated ears, Cryptorchidism, ... |
OMIM:601803 |
Loeys-Dietz Syndrome |
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Uterine rupture |
ORPHA:60030 |