Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 1 |
|
Infertility |
OMIM:615774 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Preimplantation Embryonic Lethality 2 |
|
Infertility |
OMIM:617234 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Hydatidiform Mole, Recurrent, 3 |
|
Infertility |
OMIM:618431 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Spontaneous abortion,... |
ORPHA:2133 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Spermatogenic Failure 12 |
|
Infertility, Azoospermia |
OMIM:615413 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility |
OMIM:301060 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Stereotypy |
OMIM:617787 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Stereotypy |
OMIM:608631 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Spontaneous abortion, Abnormality of the lymph nodes |
OMIM:136580 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Stereotypy |
OMIM:606053 |
Autism, Susceptibility To, X-Linked 3 |
|
Stereotypy |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Stereotypy |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Stereotypy |
OMIM:300425 |
Autism |
|
Stereotypy |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Stereotypy |
OMIM:608636 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Torticollis, Stereotypy, Action tremor |
ORPHA:98807 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Stereotypy |
OMIM:300271 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Male infertility |
ORPHA:48 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility, Asplenia |
OMIM:618948 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly, Reduced sperm motility |
OMIM:602271 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
Smith-Magenis syndrome |
|
Stereotypy |
DECIPHER:8 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Developmental And Epileptic Encephalopathy 58 |
|
Spastic diplegia, Stereotypy |
OMIM:617830 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
N-Acetylaspartate Deficiency |
|
Truncal ataxia, Stereotypy |
OMIM:614063 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Stereotypy |
OMIM:618709 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thro... |
ORPHA:848 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Spasticity, Stereotypy |
OMIM:617393 |
Baker-Gordon Syndrome |
|
Involuntary movements, Choreoathetosis, Stereotypy, Ataxia, Hyperkinetic movements |
OMIM:618218 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Poor coordination, Paroxysmal dyskinesia, Chorea, Stereotypy, Ataxia |
OMIM:619150 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Hypertonia, Spastic tetraplegia, Stereotypy |
OMIM:615282 |
Ciliary Dyskinesia, Primary, 14 |
|
Polysplenia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 12 |
|
Immotile sperm |
OMIM:612650 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Poor coordination |
OMIM:309548 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Male infertility |
ORPHA:3000 |
Fraxe Intellectual Disability |
|
Clumsiness, Stereotypical body rocking, Recurrent hand flapping |
ORPHA:100973 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Infertility, Abnormal sperm head morphology, Reduced sperm motility |
ORPHA:320391 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Reduced sperm motility |
OMIM:615500 |
Developmental And Epileptic Encephalopathy 30 |
|
Stereotypy |
OMIM:616341 |
Hyperprolinemia, Type I |
|
Ataxia, Stereotypy |
OMIM:239500 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Spastic tetraparesis, Stereotypy |
OMIM:619470 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm |
OMIM:242670 |
Ciliary Dyskinesia, Primary, 19 |
|
Infertility, Reduced sperm motility |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Reduced sperm motility |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility |
OMIM:612649 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Spasticity, Stereotypy |
OMIM:612069 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm |
OMIM:613808 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Chorea, Stereotypy, Stereotypical hand wringing, Spasticity, Gait ataxia |
OMIM:618917 |
Autism, Susceptibility To, X-Linked 2 |
|
Stereotypy |
OMIM:300495 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Gait ataxia |
OMIM:619092 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility, Polysplenia |
OMIM:619608 |
Classic Galactosemia |
|
Clumsiness, Postural tremor, Secondary amenorrhea, Oligomenorrhea, Speech apraxia, Ataxia, Incoor... |
ORPHA:79239 |
Mental Retardation, Autosomal Recessive 41 |
|
Stereotypy |
OMIM:615637 |
Obesity, Hyperphagia, And Developmental Delay |
|
Stereotypy |
OMIM:613886 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Stereotypy |
OMIM:615541 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Babinski sign, Myoclonus, Rigidity, Stereotypy |
OMIM:600795 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Stereotypy |
OMIM:609425 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Speech apraxia, Stereotypy |
OMIM:613670 |
Foxg1 Syndrome |
|
Choreoathetosis, Myoclonus, Stereotypy, Stereotypical hand wringing, Hyperkinetic movements, Spas... |
ORPHA:561854 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Babinski sign, Spastic dysarthria, Stereotypy, Spasticity, Progressive spastic paraplegia |
ORPHA:280763 |
Developmental And Epileptic Encephalopathy 6B |
|
Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Hyperkinetic movements |
OMIM:619317 |
Lead Poisoning |
|
Oligospermia, Abnormal sperm morphology, Imbalanced hemoglobin synthesis, Infertility, Abnormal T... |
ORPHA:330015 |
Ring Chromosome Y Syndrome |
|
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... |
ORPHA:261529 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Chorea, Spasticity, Stereotypy |
ORPHA:88616 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hypertonia, Spasticity |
ORPHA:352490 |
Pontocerebellar Hypoplasia, Type 11 |
|
Poor coordination, Stereotypy, Ataxia, Spasticity, Limb ataxia |
OMIM:617695 |
Behavioral Variant Of Frontotemporal Dementia |
|
Upper motor neuron dysfunction, Abnormality of extrapyramidal motor function, Fasciculations, Ste... |
ORPHA:275864 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Erythroid hyperplasia, Splenomegaly, Hypogonadism, Persistence of hemoglobin F, Hep... |
ORPHA:231222 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, Spasticity, Stereotypy |
OMIM:618718 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Primary Ciliary Dyskinesia |
|
Asplenia, Abnormal sperm motility, Female infertility, Male infertility, Polysplenia |
ORPHA:244 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Pick Disease Of Brain |
|
Stereotypy |
OMIM:172700 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Upper limb spasticity, Stereotypy, Tremor, Myocardial infarction, Hyperkinetic movements |
ORPHA:457240 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonic spasms, Poor motor coordination, Tachycardia, Stereotypy, Poor fine motor c... |
ORPHA:79264 |
48,Xxyy Syndrome |
|
Infertility, Azoospermia, Stereotypy, Tremor, Ataxia, Hypergonadotropic hypogonadism |
ORPHA:10 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Stereotypy |
OMIM:618906 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Tetraparesis, Stereotypy |
ORPHA:85277 |
Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Stereotypy |
OMIM:618205 |
Hydroxykynureninuria |
|
Hypertonia, Hypotension, Tachycardia, Stereotypy |
ORPHA:79155 |
Bilateral Generalized Polymicrogyria |
|
Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyelid myoclonus, Spasticity |
ORPHA:208447 |
Christianson Syndrome |
|
Gait ataxia, Truncal ataxia, Stereotypy |
ORPHA:85278 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
Xq28 (MECP2) duplication |
|
Progressive spasticity, Gait ataxia, Stereotypy |
DECIPHER:45 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Leukemia, Anemia, Male infertility, Reticulocytopenia, Hypergonadotropic hypogonadis... |
OMIM:227650 |
Autism, Susceptibility To, 3 |
|
Stereotypy |
OMIM:608049 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... |
OMIM:608643 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Mental Retardation, Autosomal Dominant 7 |
|
Stereotypical hand wringing, Ataxia, Incoordination, Stereotypy |
OMIM:614104 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Babinski sign, Scissor gait, Dysmetria, Spastic gait, Spastic tetrap... |
OMIM:619121 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Stereotypy |
OMIM:617044 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Eyelid myoclonus, Chorea, Spasticity, Stereotypy |
ORPHA:178469 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Myoclonus, Stereotypy |
ORPHA:411986 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Oligospermia, Hypertension, Lymphadenopathy, Abnormality of the lymph nodes, Hypogonadism, Gastro... |
ORPHA:85450 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
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Limb hypertonia, Opisthotonus, Choreoathetosis, Tongue thrusting, Stereotypy, Ataxia, Recurrent h... |
OMIM:619580 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
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Paraplegia, Ataxia, Cerebral ischemia, Stereotypy |
ORPHA:927 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
4Q21 Microdeletion Syndrome |
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Tremor, Stereotypy |
ORPHA:238750 |
Androgen Insensitivity Syndrome |
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Male infertility |
ORPHA:754 |
Beta-Thalassemia Major |
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Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... |
ORPHA:231214 |
Dominant Beta-Thalassemia |
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Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... |
ORPHA:231226 |
Shukla-Vernon Syndrome |
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Stereotypy |
OMIM:301029 |
Mental Retardation, Autosomal Dominant 40 |
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Gait ataxia, Stereotypy |
OMIM:616579 |
Coffin-Siris Syndrome 6 |
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Tics, Stereotypy |
OMIM:617808 |
Macrocephaly-Developmental Delay Syndrome |
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Hepatosplenomegaly, Stereotypy |
ORPHA:397612 |
Lamb-Shaffer Syndrome |
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Ataxia, Upper motor neuron dysfunction, Stereotypy |
ORPHA:530983 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
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Gait ataxia, Spasticity, Stereotypy |
OMIM:617807 |
Inverted Duplicated Chromosome 15 Syndrome |
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Hypogonadism, Stereotypy |
ORPHA:3306 |
5Q14.3 Microdeletion Syndrome |
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Stereotypy |
ORPHA:228384 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
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Progressive spasticity, Rigidity, Chorea, Lower limb spasticity, Stereotypy, Repetitive compulsiv... |
OMIM:300260 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Mitral regurgitation, Stereotypy |
ORPHA:313892 |
Mental Retardation, Autosomal Dominant 48 |
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Stereotypy |
OMIM:617751 |
Childhood Disintegrative Disorder |
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Stereotypy |
ORPHA:168782 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Premature ovarian insufficiency, Stereotypy |
ORPHA:391307 |
47,Xyy Syndrome |
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Oligospermia, Male infertility, Azoospermia |
ORPHA:8 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
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Speech apraxia, Stereotypy |
ORPHA:529965 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Cerebral palsy, Hypertonia, Pulmonic stenosis, Stereotypy |
OMIM:618914 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
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Stereotypy |
OMIM:618504 |
Alazami Syndrome |
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Stereotypical hand wringing, Stereotypy |
ORPHA:319671 |
Pitt-Hopkins-Like Syndrome 1 |
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Ataxia, Spasticity, Stereotypy |
OMIM:610042 |
2Q23.1 Microdeletion Syndrome |
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Ataxia, Stereotypy |
ORPHA:228402 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Myoclonus, Cortical myoclonus, Stereotypy, Ataxia, Spasticity |
ORPHA:168491 |
Niemann-Pick Disease, Type C2 |
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Cataplexy, Stereotypy, Splenomegaly, Ataxia, Spasticity |
OMIM:607625 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
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Ataxia, Recurrent hand flapping, Hypertonia, Stereotypy |
OMIM:300986 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
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Head tremor, Ataxia, Stereotypy |
OMIM:619428 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
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Stereotypy |
OMIM:618825 |
Smith-Magenis Syndrome |
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Stereotypy |
OMIM:182290 |
Ciliary Dyskinesia, Primary, 1 |
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Male infertility, Asplenia |
OMIM:244400 |
Acquired Methemoglobinemia |
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Methemoglobinemia |
ORPHA:464453 |
22Q11.2 Duplication Syndrome |
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Aplasia/Hypoplasia of the thymus, Stereotypy |
ORPHA:1727 |
Hereditary Methemoglobinemia |
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Methemoglobinemia |
ORPHA:621 |
Rett Syndrome |
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Limb apraxia, Stereotypical hand wringing, Bradykinesia, Stereotypy |
ORPHA:778 |
Rett Syndrome, Congenital Variant |
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Athetosis, Chorea, Tongue thrusting, Stereotypy, Apraxia, Spasticity |
OMIM:613454 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:141750 |
Potocki-Lupski Syndrome |
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Stereotypy |
OMIM:610883 |
Shwachman-Diamond Syndrome 1 |
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Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... |
OMIM:260400 |
Radio-Tartaglia Syndrome |
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Tremor, Ataxia, Stereotypy |
OMIM:619312 |
Complete Androgen Insensitivity Syndrome |
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Male infertility, Primary amenorrhea |
ORPHA:99429 |
Cystinosis |
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Abnormal pyramidal sign, Portal hypertension, Stereotypy |
ORPHA:213 |
Partial Androgen Insensitivity Syndrome |
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Male sexual dysfunction, Male infertility, Primary amenorrhea, Azoospermia |
ORPHA:90797 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
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Stereotypy |
OMIM:619293 |
Intellectual Developmental Disorder, X-Linked 98 |
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Lower limb spasticity, Stereotypy, Stereotypical body rocking, Ataxia, Stereotypical hand wringin... |
OMIM:300912 |
Thymoma |
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Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
Blackfan-Diamond Anemia |
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Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
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Stereotypy |
OMIM:616351 |
Chromosome 5P13 Duplication Syndrome |
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Stereotypy |
OMIM:613174 |
Kohlschutter-Tonz Syndrome-Like |
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Upper limb spasticity, Myoclonus, Lower limb spasticity, Stereotypy, Tremor, Ataxia, Stereotypica... |
OMIM:619229 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Stereotypy |
ORPHA:500159 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Choreoathetosis, Chorea, Stereotypy, Repetitive compulsive behavior, Ataxia, Hyperkinetic movemen... |
ORPHA:522077 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
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Gait ataxia, Spasticity, Stereotypy |
OMIM:300486 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Torticollis, Spastic tetraplegia, Spastic ataxia, Stereotypy, Oculomotor apraxia, Spastic diplegi... |
ORPHA:300570 |
Cri-Du-Chat Syndrome |
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Hypertonia, Stereotypy |
OMIM:123450 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Hypertension, Recurrent hand flapping, Stereotypy |
ORPHA:449291 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Progressive spasticity, Cataplexy, Fasciculations, Stereotypy, Tetraplegia, Ataxia, Spasticity |
ORPHA:496641 |
3P25.3 Microdeletion Syndrome |
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Ataxia, Pulmonic stenosis, Stereotypy |
ORPHA:435638 |
Autosomal Dominant Polycystic Kidney Disease |
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Reduced sperm motility |
ORPHA:730 |
Proximal 16P11.2 Microdeletion Syndrome |
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Paroxysmal dyskinesia, Choreoathetosis, Speech apraxia, Stereotypy |
ORPHA:261197 |
Ritscher-Schinzel Syndrome 4 |
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Athetosis, Chorea, Ataxia, Stereotypy |
OMIM:619435 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
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Involuntary movements, Stereotypy |
ORPHA:98784 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
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Stereotypy |
ORPHA:261144 |
Aromatase Deficiency |
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Female infertility, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism |
ORPHA:91 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
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Babinski sign, Pulmonic stenosis, Stereotypy, Hypertonia, Spasticity |
OMIM:615802 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Male hypogonadism, Male infertility, Primary amenorrhea, Irregular menstruation, Decreased fertility |
ORPHA:90793 |
Ogden Syndrome |
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Premature ventricular contraction, Ventricular tachycardia, Torsade de pointes, Supraventricular ... |
OMIM:300855 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:847 |
Cerebral Creatine Deficiency Syndrome 1 |
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Poor hand-eye coordination, Spasticity, Stereotypy |
OMIM:300352 |
Limbic Encephalitis With Nmda Receptor Antibodies |
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Involuntary movements, Opisthotonus, Rigidity, Choreoathetosis, Orthostatic hypotension, Chorea, ... |
ORPHA:217253 |
Helsmoortel-Van Der Aa Syndrome |
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Stereotypy |
OMIM:615873 |
Transketolase Deficiency |
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Secondary amenorrhea, Stereotypy |
ORPHA:488618 |
Megalocornea-Intellectual Disability Syndrome |
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Ataxia, Stereotypy |
ORPHA:2479 |
Smith-Magenis Syndrome |
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Stereotypy |
ORPHA:819 |
Bloom Syndrome |
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Oligospermia, Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Azoosper... |
ORPHA:125 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hair-pulling, Clonus, Myoclonic spasms, Lower limb spasticity, Stereotypy, Hypertonia |
ORPHA:447997 |
Phelan-Mcdermid Syndrome |
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Tongue thrusting, Stereotypy |
OMIM:606232 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Tremor, Gait ataxia, Stereotypy |
ORPHA:476126 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Stereotypy |
OMIM:619103 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Limb hypertonia, Spasticity, Stereotypy |
ORPHA:457351 |
Bainbridge-Ropers Syndrome |
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Recurrent hand flapping, Hypertonia, Stereotypy |
OMIM:615485 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Ataxia, Stereotypy |
ORPHA:457279 |
Developmental And Epileptic Encephalopathy 2 |
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Myoclonus, Stereotypy |
OMIM:300672 |
2Q37 Microdeletion Syndrome |
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Stereotypy |
ORPHA:1001 |
Congenital Disorder Of Glycosylation, Type Iia |
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Hypertonia, Stereotypy |
OMIM:212066 |
Kleefstra Syndrome 1 |
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Stereotypy |
OMIM:610253 |
Kleefstra Syndrome |
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Arrhythmia, Stereotypy |
ORPHA:261494 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Clonus, Isometric tremor, Head titubation, Cerebral palsy, Torticollis, Aortic regurgitation, Spa... |
OMIM:619475 |
46,Xy Partial Gonadal Dysgenesis |
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Streak ovary, Azoospermia, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism, ... |
ORPHA:251510 |
White-Sutton Syndrome |
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Incoordination, Stereotypy |
ORPHA:468678 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Hypertonia, Opisthotonus, Stereotypy |
ORPHA:508533 |
Renal Cysts And Diabetes Syndrome |
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Reduced sperm motility |
OMIM:137920 |
7Q11.23 Microduplication Syndrome |
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Dysmetria, Aortic valve stenosis, Stereotypy |
ORPHA:96121 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Stereotypy, Hypertonia, Hyperkinetic movements, Spasticity, Abnormal pyramidal sign |
ORPHA:468631 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
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Dysmetria, Speech apraxia, Stereotypy, Ataxia, Truncal ataxia, Gait ataxia |
OMIM:617330 |
Mucopolysaccharidosis Type 2 |
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Hypertension, Cardiomyopathy, Splenomegaly, Stereotypy, Enlarged tonsils, Arrhythmia |
ORPHA:580 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Decreased heart rate variability, Stereotypy |
OMIM:619005 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Hepatosplenomegaly, Stereotypy |
OMIM:301066 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Aortic regurgitation, Aortic valve stenosis, Stereotypy |
ORPHA:464311 |
Prader-Willi Syndrome Due To Translocation |
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Hypogonadotropic hypogonadism, Stereotypy |
ORPHA:177907 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Aortic regurgitation, Aortic valve stenosis, Stereotypy |
ORPHA:464306 |
Cystinosis, Nephropathic |
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Male hypogonadism, Male infertility, Splenomegaly |
OMIM:219800 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Hematochezia, Stereotypy |
OMIM:619575 |
Kinsship Syndrome |
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Spastic tetraparesis, Myoclonus, Stereotypy |
OMIM:619297 |
1P36 Deletion Syndrome |
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Dilated cardiomyopathy, Telangiectasia, Abnormality of the spleen, Stereotypy, Hypogonadism, Hemi... |
ORPHA:1606 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Chordee, Male infertility, Streak ovary, Azoospermia |
ORPHA:1772 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Heart murmur, Stereotypy |
OMIM:618653 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Repetitive compulsive behavior, Stereotypical body rocking, Gait ataxia, Stereotypy |
ORPHA:513456 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Aortic regurgitation, Stereotypy |
ORPHA:508498 |
Cystic Fibrosis |
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Hepatosplenomegaly, Male infertility |
OMIM:219700 |
Carney Complex |
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Oligospermia, Abnormal sperm motility, Decreased fertility in males |
ORPHA:1359 |
Arboleda-Tham Syndrome |
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Lower limb hypertonia, Pulmonic stenosis, Stereotypy |
OMIM:616268 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Stereotypy |
OMIM:619512 |
Wiedemann-Steiner Syndrome |
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Stereotypy |
ORPHA:319182 |
Noonan Syndrome 1 |
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Hypogonadism, Male infertility, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia |
OMIM:163950 |
Oculocerebrorenal Syndrome Of Lowe |
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Azoospermia, Clonus, Stereotypy |
ORPHA:534 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Poor coordination, Spastic diplegia, Stereotypy |
OMIM:309590 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Stereotypy |
OMIM:616682 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Spastic tetraparesis, Hypertonia, Stereotypy |
OMIM:301044 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Aortic valve stenosis, Cardiac conduction abnormality, Pulmonic stenosis, Stereotypy |
ORPHA:353281 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Chordee, Exaggerated startle response, Stereotypy |
OMIM:619522 |
Norrie Disease |
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Clonus, Hypertonia, Erectile dysfunction, Stereotypy |
ORPHA:649 |
Coffin-Siris Syndrome 12 |
|
Heart murmur, Stereotypy |
OMIM:619325 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Stereotypy |
OMIM:194190 |
Rubinstein-Taybi Syndrome 1 |
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Poor coordination, Arrhythmia, Stereotypy |
OMIM:180849 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Aortic valve stenosis, Cardiac conduction abnormality, Pulmonic stenosis, Stereotypy |
ORPHA:353277 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Aortic valve stenosis, Cardiac conduction abnormality, Pulmonic stenosis, Stereotypy |
ORPHA:353284 |
Mowat-Wilson Syndrome |
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Oligomenorrhea, Asplenia, Chordee, Pulmonic stenosis, Stereotypy, Ataxia, Spasticity, Aortic valv... |
ORPHA:2152 |
Primrose Syndrome |
|
Tics, Hypergonadotropic hypogonadism, Stereotypy |
OMIM:259050 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Asplenia, Chordee, Pulmonic stenosis, Stereotypy, Poor fine motor coordination, Spasticity, Aorti... |
ORPHA:261537 |
Lowe Oculocerebrorenal Syndrome |
|
Stereotypy |
OMIM:309000 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Asplenia, Chordee, Pulmonic stenosis, Stereotypy, Poor fine motor coordination, Spasticity, Aorti... |
ORPHA:261552 |