Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Isochromosomy Yp |
|
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... |
ORPHA:98797 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
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 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
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 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:98798 |
Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... |
ORPHA:488191 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... |
ORPHA:399805 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Abnormality of extrapyramidal motor function, Ataxia |
OMIM:302600 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Hypogonadotropic hypogonadism, Ataxia |
ORPHA:1180 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Spinocerebellar Ataxia 41 |
|
Gait ataxia, Cerebellar vermis atrophy, Ataxia, Cerebellar atrophy, Unsteady gait |
OMIM:616410 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral palsy, Broad-based gait, Dysdiadochokinesis |
OMIM:605388 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Slurred speech, Gait disturbance, Incoordination |
ORPHA:98766 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spinocerebellar Ataxia 45 |
|
Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617769 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Spinocerebellar Ataxia Type 30 |
|
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia |
ORPHA:211017 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Episodic Ataxia Type 5 |
|
Truncal ataxia, Ataxia |
ORPHA:211067 |
Spinocerebellar Ataxia Type 41 |
|
Gait ataxia, Cerebellar vermis atrophy |
ORPHA:458798 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Cerebellar corti... |
ORPHA:171622 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Atonic-Astatic Syndrome Of Foerster |
|
Ataxia, Abasia, Inability to walk |
OMIM:209100 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Autosomal Spastic Paraplegia Type 30 |
|
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... |
ORPHA:101010 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Truncal ataxia, Cerebellar atrophy, Inability to walk |
OMIM:615268 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Inability to walk, Spastic tetraplegia, Cerebellar hypoplasia, Ataxia, Pachygyria |
OMIM:618174 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia |
ORPHA:1397 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Gait ataxia, Cerebellar atrophy, Limb ataxia, Spastic gait |
OMIM:617133 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor, Cerebellar atrophy, Impaired vibratory sensation |
ORPHA:217012 |
Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
Periventricular Nodular Heterotopia 8 |
|
Spasticity, Cerebellar vermis atrophy, Periventricular nodular heterotopia |
OMIM:618185 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Lissencephaly 1 |
|
Gray matter heterotopia, Cerebellar hypoplasia, Agyria, Lissencephaly, Spastic tetraparesis, Subc... |
OMIM:607432 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Frequent falls, Cerebellar atrophy, Unsteady gait |
OMIM:615945 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou... |
ORPHA:261529 |
Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking, Cerebellar atrophy |
ORPHA:423296 |
Spinocerebellar Ataxia 31 |
|
Gait ataxia, Cerebellar atrophy, Limb ataxia, Ataxia |
OMIM:117210 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Spinocerebellar Ataxia 43 |
|
Gait ataxia, Cerebellar vermis atrophy, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory imp... |
OMIM:617018 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Impaired distal vibration sensation, Spasticity, Spastic gait, Ataxia, Babinski sign, Cerebellar ... |
OMIM:619742 |
Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea |
OMIM:300604 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Spastic... |
OMIM:615625 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... |
OMIM:618086 |
Hyperprolactinemia |
|
Female infertility, Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Broad-based gait, Intention tremor |
OMIM:601238 |
Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Broad-based gait, Intention tremor, Nonprogre... |
ORPHA:94122 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Spinocerebellar Ataxia Type 23 |
|
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... |
ORPHA:101108 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Spastic paraplegia, Periventricular nodular heterotopia, Inability to walk, Cerebellar hypoplasia |
OMIM:618572 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Ankle clonus, Spastic gait, Babinski sign, Spastic paraplegia, Difficulty walking, Lower limb spa... |
OMIM:611252 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Hy... |
ORPHA:1083 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Cerebellar hypoplasia, Truncal ataxia, Ataxia, Babinski sign, Dysmetria |
OMIM:617584 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Truncal ataxia, Cerebellar vermis atrophy, Limb ataxia, Difficulty walking |
ORPHA:363432 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spinocerebellar Ataxia 35 |
|
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... |
OMIM:613908 |
Lissencephaly 3 |
|
Gray matter heterotopia, Spastic tetraplegia, Agyria, Cerebellar vermis hypoplasia, Lissencephaly... |
OMIM:611603 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Polymicrogyria |
OMIM:604213 |
Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... |
OMIM:616053 |
Premature Ovarian Failure 10 |
|
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... |
OMIM:612885 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Cerebellar atr... |
OMIM:616948 |
Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor, Cerebellar atrophy |
OMIM:616291 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Spasticity, Cerebellar vermis atrophy, Progressive gait ataxia, Clumsiness, Babinski sign, Intent... |
ORPHA:284332 |
Spinocerebellar Ataxia 11 |
|
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Progressive cerebel... |
OMIM:604432 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Spastic tetraplegia, Cerebellar hypoplasia, Lissencephaly, Periventricular ribbonlike heterotopia... |
OMIM:618677 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... |
ORPHA:52901 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Cerebellar atrophy, Intention tremor, Fascic... |
OMIM:613728 |
Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Torticollis |
OMIM:611694 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Cerebellar vermis atrophy, Falls, Dysdiadochokinesis, Truncal ataxia... |
ORPHA:363710 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Epilepsy, Progressive Myoclonic, 11 |
|
Rigidity, Myoclonus, Ataxia, Cerebellar atrophy, Intention tremor, Cerebellar vermis hypoplasia |
OMIM:618876 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Simplified gyral pattern, Ataxia |
OMIM:613402 |
Episodic Ataxia, Type 8 |
|
Slurred speech, Episodic ataxia, Intention tremor, Ataxia |
OMIM:616055 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Cerebellar hypoplasia, Truncal ataxia, Limb ataxia, Babinski sign, Trem... |
OMIM:615768 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Limb ataxia, Ataxia, Babinski sign, Lower limb spasticity, Cerebellar atrophy |
OMIM:614322 |
Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Spastic tetraplegia, Lissencephaly, Pachygyria, Hypertonia, Cerebellar atrophy, Polymicrogyria |
OMIM:618730 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Dysmetria, Tremor, Loss of ambulation, Cerebellar atrophy, Unsteady gait |
OMIM:617917 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Gait ataxia, Unsteady gait, Cerebellar atrophy, Ataxia |
OMIM:615705 |
Spinocerebellar Ataxia Type 40 |
|
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Pontocerebella... |
ORPHA:423275 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Ataxia |
OMIM:614706 |
Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar atrophy |
OMIM:607458 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Gait ataxia, Spasticity, Clumsiness, Ataxia, Dysmetria, Cerebellar atrophy, Intention tremor |
OMIM:608029 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Myoclonus, Tremor, Ataxia |
OMIM:616187 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar ataxia associated with quadrupedal gait, Gait ataxia, Dysdiadochokinesis, Cerebellar h... |
OMIM:224050 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Spinocerebellar Ataxia Type 35 |
|
Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... |
ORPHA:276193 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... |
OMIM:612310 |
Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski sign, Dysmetr... |
OMIM:610245 |
Spinocerebellar Ataxia 38 |
|
Gait ataxia, Cerebellar vermis atrophy, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Ankle clonus, Spastic gait, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, Lower limb spas... |
OMIM:610357 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Myoclonus, Ataxia |
OMIM:600143 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
Spinocerebellar Ataxia 46 |
|
Gait ataxia, Limb ataxia, Positive Romberg sign, Dysmetria, Cerebellar atrophy |
OMIM:617770 |
Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Azoospermia, Type II diabetes mellitus |
OMIM:615703 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Truncal ataxia, Hydrocephalus, Partial absence of cerebellar vermis, Ag... |
OMIM:220200 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Ataxia, Hemiplegia, Tremor, Cerebellar atrophy |
OMIM:141500 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Periventricular heterotopia, Inability to walk, Cerebellar hypoplasia, Truncal ataxia, Oculomotor... |
OMIM:618273 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of peripheral nerve conduction, Abnormality of female external genita... |
ORPHA:168563 |
Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar hypoplasia, Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention t... |
ORPHA:314978 |
Neurodegeneration With Brain Iron Accumulation |
|
Chorea, Spasticity, Rigidity, Abnormality of extrapyramidal motor function, Cerebellar atrophy |
ORPHA:385 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Spastic ataxia, Hemiplegia/hemiparesis, Gait disturbance, A... |
ORPHA:2572 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Cerebellar atrophy, Unsteady... |
OMIM:302500 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Spasticity, Cerebral palsy, Hypoplasia of the pons, Cerebellar atrophy, Polymicrogyria |
OMIM:618973 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Dysmetria, Cerebellar atrophy, Unsteady gait, Intent... |
OMIM:615386 |
Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Abnormal cerebe... |
ORPHA:98762 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Spinocerebellar Ataxia 4 |
|
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... |
OMIM:600223 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Cerebellar atrophy, Unsteady gait |
ORPHA:284271 |
Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Parkinsonism, Atrophy of the dentate nucleus, Myoclonus, Choreoathetosis, Ataxia |
OMIM:125370 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Chorioretinal coloboma, Lymphopenia |
ORPHA:1116 |
Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
Spermatogenic Failure 24 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Ataxia |
ORPHA:1178 |
Joubert Syndrome 13 |
|
Pachygyria, Cerebellar vermis hypoplasia |
OMIM:614173 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
Spinocerebellar Ataxia 26 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Incoordination, Cerebellar atrophy |
OMIM:609306 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Gait ataxia, Impaired distal vibration sensation, Dysdiadochokinesis, Oculomotor apraxia, Limb at... |
OMIM:617633 |
Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Truncal ataxia, Progressive gait ataxia, Paralysis, Limb ataxia, Bab... |
ORPHA:101112 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration, Ataxia |
OMIM:618709 |
Epilepsy, Progressive Myoclonic, 8 |
|
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Cerebellar atro... |
OMIM:616230 |
Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus |
ORPHA:481 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Gait ataxia, Spasticity, Limb ataxia, Ataxia, Dysmetria, Cerebellar atrophy |
OMIM:610743 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Ataxia, ... |
OMIM:267700 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Abnormal cerebellum morphology, Parkinsonism, Abnormality of extrapyramidal motor function, Myocl... |
OMIM:162350 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea |
OMIM:602390 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Cerebellar hypoplasia, Hydrocephalus, Type II lissencephaly, Dysgyria, O... |
ORPHA:352682 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Ataxia, Spastic para... |
OMIM:607565 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Babinski s... |
ORPHA:284324 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, ... |
OMIM:616127 |
Spinocerebellar Ataxia 49 |
|
Dysdiadochokinesis, Abnormality of extrapyramidal motor function, Ataxia, Babinski sign, Dysmetri... |
OMIM:619806 |
Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
Perrault Syndrome 6 |
|
Irregular menstruation, Sensorineural hearing impairment, Secondary amenorrhea, Premature ovarian... |
OMIM:617565 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
Joubert Syndrome 24 |
|
Spasticity, Cerebellar hypoplasia, Gait disturbance, Ataxia, Dysmetria, Pachygyria, Polymicrogyria |
OMIM:616654 |
Mast Syndrome |
|
Dysdiadochokinesis, Apraxia, Gait disturbance, Incoordination, Babinski sign, Spastic paraplegia,... |
OMIM:248900 |
Refractory Celiac Disease |
|
Weight loss, Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportio... |
ORPHA:398063 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Action tremor, Cerebellar atrophy, Prog... |
OMIM:604326 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Gait ataxia, Cerebellar atrophy, Limb ataxia, Postural tremor |
OMIM:620174 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Truncal ataxia, Oculomotor apraxia, I... |
OMIM:616204 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Spastic tetraplegia, Agyria, Lissencephaly, Subcortical band heterotopia... |
OMIM:615411 |
Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Somatic sensory dysfunction, Cerebellar vermis atrophy, Rigidity, Myoclonus, Limb at... |
ORPHA:98763 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... |
OMIM:300510 |
Spinocerebellar Ataxia 44 |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Ataxia, Dysmetria, Frequent falls, Cerebellar atrophy |
OMIM:617691 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, B lymphocytopenia, Lung abscess, Hypoproteinemia, Decreased ci... |
OMIM:241600 |
Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... |
OMIM:614324 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar vermis atrophy, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Cerebellar atrophy |
OMIM:614229 |
Spinocerebellar Ataxia 14 |
|
Gait ataxia, Impaired vibration sensation at ankles, Dysmetria, Cerebellar atrophy, Progressive c... |
OMIM:605361 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Gait ataxia, Poor fine motor coordination, Cerebellar vermis atrophy, Intention tremor, Difficult... |
ORPHA:512260 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy, Dysdiadochokinesis, Progressive gait ataxia, Clumsiness, Spastic dysar... |
ORPHA:1175 |
Spinocerebellar Ataxia 19 |
|
Gait ataxia, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwheel rigidity, Cerebell... |
OMIM:607346 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait, Cerebellar atrophy, Distal sensory impairment |
OMIM:618387 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Dengue Fever |
|
Hypotension, Leukopenia, Cerebral hemorrhage, Epistaxis, Hypoproteinemia, Gastrointestinal hemorr... |
ORPHA:99828 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Ataxia, Hepatosplenomegaly, Pancytopenia, Failure ... |
OMIM:603553 |
Spinocerebellar Ataxia 5 |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Upper motor neuron dysfunction, Incoordination, Dys... |
OMIM:600224 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Dysdiadochokinesis, Clumsiness, Myoclonus, Ataxia, Dysmetria, Loss of ambulation, Limb tremor, Ce... |
OMIM:256731 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Spasticity, Agyria, Lissencephaly, Ataxia, Pachygyria |
OMIM:300067 |
Premature Ovarian Failure 20 |
|
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... |
OMIM:619938 |
Dystonia 23 |
|
Torticollis, Myoclonus, Gait disturbance, Head tremor, Cerebellar atrophy |
OMIM:614860 |
Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Cerebellar hypoplas... |
OMIM:213200 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... |
OMIM:614470 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Tip-toe gait, Cerebellar cyst, Difficulty walking, Frequent falls, Pachy... |
ORPHA:370980 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia |
OMIM:207731 |
Spinocerebellar Ataxia 29 |
|
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Limb ataxia, Broad-based gait, Trunca... |
OMIM:117360 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Impaired tactile sensation, Torticollis, Upper limb spasticity, Spastic paraplegia, Babinski sign... |
OMIM:619686 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity, Cerebellar atr... |
OMIM:619028 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Gait ataxia, Abnormal pyramidal sign, Falls, Spastic tetraplegia, Resting tremor, Parkinsonism, I... |
OMIM:617225 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
Lissencephaly 5 |
|
Cerebellar hemisphere hypoplasia, Gray matter heterotopia, Hydrocephalus, Spastic paraplegia, Typ... |
OMIM:615191 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Spinocerebellar Ataxia Type 29 |
|
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Oculomotor apraxia, Ataxia, Dysmetria... |
ORPHA:208513 |
Chédiak-Higashi Syndrome |
|
Inability to walk, Hepatosplenomegaly, Hyponatremia, Thrombocytopenia, Abnormal leukocyte morphol... |
ORPHA:167 |
Trimethylaminuria |
|
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Spasticity, Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Dysmetria, Slurred speec... |
ORPHA:352403 |
Neuroleptic Malignant Syndrome |
|
Hypotension, Abnormal autonomic nervous system physiology, Elevated circulating creatine kinase c... |
ORPHA:94093 |
Pontocerebellar Hypoplasia, Type 2D |
|
Chorea, Cerebellar vermis atrophy, Spastic tetraplegia, Appendicular spasticity, Clonus, Cerebell... |
OMIM:613811 |
Huntington Disease |
|
Gait ataxia, Chorea, Rigidity, Cerebellar atrophy, Bradykinesia |
OMIM:143100 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Distal sensory impairment, Steppage gait, Ataxia |
OMIM:607250 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Camptodactyly, Congenital sensorineural hearing impairment, Primary amenorrhea, Hypopl... |
ORPHA:432 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Choreoathetosis, Positive Romberg sign, Ataxia, Babinski sign, Dysmetria, Loss of amb... |
OMIM:618088 |
Spinocerebellar Ataxia Type 2 |
|
Gait ataxia, Chorea, Postural tremor, Parkinsonism, Abnormal cortical gyration, Cerebellar Purkin... |
ORPHA:98756 |
Spinocerebellar Ataxia 15 |
|
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy |
OMIM:606658 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Small for gestational age, Obesity, Dilated cardiomy... |
ORPHA:26793 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Gait ataxia, Chorea, Cerebellar vermis atrophy, Inability to walk, Ataxia, Dysmetria |
OMIM:618501 |
Polymicrogyria, Bilateral Frontoparietal |
|
Ankle clonus, Perisylvian polymicrogyria, Cerebellar hypoplasia, Truncal ataxia, Babinski sign, H... |
OMIM:606854 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Gray matter heterotopia, Cerebellar dysplasia, Oculomotor apraxia, Cere... |
OMIM:615960 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Pancytopenia, Diffuse alveolar hemorrhage, Failure to ... |
OMIM:616050 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Inability to walk, Rigidity, Gait disturbance, Dysmetria, Tremor, Cerebellar atrophy... |
OMIM:618090 |
Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... |
OMIM:619834 |
Perrault Syndrome 3 |
|
Sensorineural hearing impairment, Elevated circulating follicle stimulating hormone level, Elevat... |
OMIM:614129 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Lymphopenia, Hypoprotein... |
ORPHA:90362 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Spina bifida, Hydrocepha... |
ORPHA:945 |
Perrault Syndrome 2 |
|
Streak ovary, Sensorineural hearing impairment, Amenorrhea |
OMIM:614926 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Gait ataxia, Retrocerebellar cyst, Dilated fourth ventricle, Abnormal pyramidal sign, Dysdiadocho... |
OMIM:614831 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Dysdiadochokinesis, Cerebellar hypoplasia, Truncal ataxia, Atrophy of the dentate nucleus, Dysmet... |
OMIM:610185 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... |
OMIM:617145 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Calf muscle hypertrophy, Testicular atrophy, Tremor, Limb muscle weakness |
OMIM:313200 |
Spinocerebellar Ataxia Type 19/22 |
|
Impaired vibration sensation at ankles, Truncal ataxia, Poor coordination, Limb ataxia, Ataxia, S... |
ORPHA:98772 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Urocanase Deficiency |
|
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait |
OMIM:276880 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Impaired vibration sensation in the lower limbs, Cerebellar vermis atrophy, Spastic dysarthria, A... |
ORPHA:94124 |
Gordon Holmes Syndrome |
|
Chorea, Cerebellar atrophy, Ataxia |
OMIM:212840 |
Immunodeficiency 15B |
|
Monocytosis, Failure to thrive, Reduced natural killer cell count |
OMIM:615592 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Vasculitis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating... |
OMIM:308240 |
Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hyperphosphatemia, Ventricular arrhythmia, Ab... |
ORPHA:36913 |
Citrullinemia Type Ii |
|
Hypertriglyceridemia, Acute hyperammonemia, Tremor, Hypoproteinemia, Decreased body mass index, H... |
ORPHA:247585 |
Spinocerebellar Ataxia 42 |
|
Impaired vibration sensation at ankles, Loss of Purkinje cells in the cerebellar vermis, Spastic ... |
OMIM:616795 |
Alg6-Cdg |
|
Rod-cone dystrophy, Decreased LDL cholesterol concentration, Retinal degeneration, Ataxia, Pubert... |
ORPHA:79320 |
Spinocerebellar Ataxia 50 |
|
Chorea, Cerebellar vermis atrophy, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Acti... |
OMIM:620158 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Bradykinesia, Gait disturbance, Dysdiadochokinesis |
ORPHA:228169 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Impaired oxidative burst, T... |
OMIM:226990 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hypertension, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Progressive spastic paraplegia, Gait disturbance, Ataxia, Babinski sign, Cerebellar atrophy |
OMIM:612020 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male infertility, Male pse... |
ORPHA:754 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Impaired tan... |
OMIM:300423 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... |
ORPHA:243 |
Immunodeficiency 27A |
|
Anemia, Weight loss, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegal... |
OMIM:209950 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Congenital hypoparathyroidism, Male infertility, Hypocalcemic seizures, Hypoca... |
ORPHA:2239 |
Developmental And Epileptic Encephalopathy 37 |
|
Chorea, Spasticity, Hyperkinetic movements, Rigidity, Myoclonus, Choreoathetosis, Gait disturbanc... |
OMIM:616981 |
Nephrotic Syndrome, Type 14 |
|
Hypothyroidism, Sensorineural hearing impairment, Hypogonadism, Adrenal insufficiency, Lymphopeni... |
OMIM:617575 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Sensorineural hearing impairment, Tachycardia |
OMIM:221400 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Abnormal cerebellum morphology, Impaired tactil... |
ORPHA:98 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Hypogona... |
OMIM:240950 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Focal polymicrogyria, Ataxia, Subcortical band heterotopia, Cerebellar ... |
OMIM:615771 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Myocardial infarction, Abnormality of venous physiology, Leukocytos... |
ORPHA:90064 |
Polymicrogyria Due To Tubb2B Mutation |
|
Gray matter heterotopia, Perisylvian polymicrogyria, Hemiparesis, Lissencephaly, Hypoplasia of th... |
ORPHA:300573 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Anemia, Hypothyroidism, Hypoproteinemia, Thrombocytosis, Iron deficiency anem... |
OMIM:226300 |
Spinocerebellar Ataxia 28 |
|
Gait ataxia, Somatic sensory dysfunction, Spasticity, Parkinsonism, Limb ataxia, Babinski sign, C... |
OMIM:610246 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... |
OMIM:619868 |
Immunodeficiency 91 And Hyperinflammation |
|
Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegaly, Failure to thrive, Hemophagocytosis, Elev... |
OMIM:619644 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Gait ataxia, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Torticollis, Limb atax... |
OMIM:619862 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Hyperphosphatemia, Precocious puberty, Hyperthyroidism, Abnormal testis m... |
ORPHA:457059 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar dysplasia, Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar hypopl... |
OMIM:616531 |
Perrault Syndrome 4 |
|
Primary amenorrhea, Decreased serum estradiol, Secondary amenorrhea, Premature ovarian insufficie... |
OMIM:615300 |
Juvenile Huntington Disease |
|
Gait ataxia, Chorea, Cerebellar vermis atrophy, Rigidity, Myoclonus, Ataxia, Cerebellar atrophy, ... |
ORPHA:248111 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
Spinocerebellar Ataxia 13 |
|
Gait ataxia, Impaired distal vibration sensation, Spasticity, Abnormal pyramidal sign, Myoclonus,... |
OMIM:605259 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... |
OMIM:278850 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Failure to thrive, Severe B lymphocytopenia,... |
OMIM:603554 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Flexion contracture, Hypsarrhythmia, Hypoproteinemia, Tremor, Cryptorchidism |
OMIM:608093 |
Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Akinesia, Truncal ataxia, Limb ataxia, Gait disturbance, Hand tremor, Tremor, Diffic... |
ORPHA:98764 |
Joubert Syndrome 25 |
|
Oculomotor apraxia, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Ataxia, Tremor, Cerebellar atrophy |
OMIM:616494 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Elevated circulating parathyroid hormone leve... |
ORPHA:94090 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration,... |
OMIM:145600 |
Pseudohypoparathyroidism, Type Ic |
|
Hypothyroidism, Hypocalcemic tetany, Hyperphosphatemia, Elevated circulating thyroid-stimulating ... |
OMIM:612462 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Gait ataxia, Postural tremor, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign,... |
OMIM:609270 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Gait ataxia, Babinski sign, Spastic paraplegia, Lower limb spasticity, Cerebellar atrophy |
ORPHA:139480 |
Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... |
ORPHA:66628 |
Ménétrier Disease |
|
Weight loss, Hypochromic microcytic anemia, Hypoproteinemia, Gastrointestinal hemorrhage, Hypoalb... |
ORPHA:2494 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Cerebellar atrophy, Difficulty walking, Ataxia |
OMIM:619425 |
Ataxia-Pancytopenia Syndrome |
|
Impaired vibration sensation in the lower limbs, Ankle clonus, Ataxia, Babinski sign, Dysmetria, ... |
OMIM:159550 |
Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
Primary Membranoproliferative Glomerulonephritis |
|
Myocardial infarction, Drusen, Hypertension, Hypoalbuminemia |
ORPHA:54370 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Hypospadias, Male ... |
ORPHA:8 |
Leishmaniasis |
|
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, ... |
ORPHA:507 |
Lissencephaly 6 With Microcephaly |
|
Spasticity, Periventricular heterotopia, Limb hypertonia, Simplified gyral pattern, Lissencephaly... |
OMIM:616212 |
Boucher-Neuhauser Syndrome |
|
Gait ataxia, Spasticity, Ataxia, Spinocerebellar atrophy, Cerebellar atrophy, Abnormal upper moto... |
OMIM:215470 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Reduced systolic function, Failure to thrive in infancy, Broad-based gait... |
OMIM:618805 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Spasticity, Agyria, Pachygyria |
ORPHA:1084 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar atrophy |
OMIM:618093 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Monocytosis, Leukopenia, Acute myeloid leukemia, Refractory anemia |
OMIM:616871 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... |
ORPHA:179494 |
Episodic Ataxia Type 6 |
|
Cerebellar atrophy, Slurred speech, Ataxia, Hemiplegia |
ORPHA:209967 |
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
Hypergonadotropic hypogonadism, Ataxia |
ORPHA:88637 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Gait ataxia, Spasticity, Spastic ataxia, Gait imbalance, Torticollis, Gait disturbance, Frequent ... |
OMIM:618369 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Gait ataxia, Inability to walk, Cerebellar atrophy, Ataxia |
OMIM:617915 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Increased C-peptide level, Hyperinsulinemia, Decreased circulating free fatty acid level, Syncope... |
ORPHA:276575 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... |
OMIM:618841 |
46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... |
OMIM:615724 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Sensorineural hearing impairment, Optic disc pallor, Retrobulbar optic neuritis, Tremor, Hypergon... |
OMIM:619737 |
Spinocerebellar Ataxia 17 |
|
Gait ataxia, Chorea, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Ataxia, Positive Ro... |
OMIM:607136 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait |
OMIM:619405 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Failure to thrive, Increased circulating creatine kinase MM isoform, Hypoalbu... |
OMIM:613752 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Elevated circulating creatine kinase concentrat... |
OMIM:208920 |
Spinocerebellar Ataxia 34 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebe... |
OMIM:133190 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... |
ORPHA:280679 |
Maternal Uniparental Disomy Of Chromosome X |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Azoo... |
ORPHA:261519 |
48,Xyyy Syndrome |
|
Male hypogonadism, Primary gonadal insufficiency, Azoospermia |
ORPHA:99329 |
Spinocerebellar Ataxia Type 17 |
|
Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Torticollis, ... |
ORPHA:98759 |
Behr Syndrome |
|
Cerebellar vermis atrophy, Progressive spasticity, Truncal ataxia, Gait disturbance, Ataxia, Babi... |
OMIM:210000 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Anemia, Congestive heart failure, Dilated cardiomyopathy, Elevated circulating creatine kinase co... |
OMIM:615895 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Spasticity, Abnormal pyramidal sign, Truncal ataxia, Torticollis, Limb ataxia, Head titubation, C... |
OMIM:617560 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone level, Hypocalcemic se... |
OMIM:618883 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Oculomotor apraxia,... |
ORPHA:1170 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Increased C-peptide level, Decreased circulating free fatty acid level, Syncope, Large for gestat... |
ORPHA:276556 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Cellulitis, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Mono... |
ORPHA:486 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis, Dystonia |
OMIM:610181 |
Hemochromatosis, Type 1 |
|
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... |
OMIM:235200 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... |
ORPHA:90791 |
Analbuminemia |
|
Hypotension, Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholest... |
OMIM:616000 |
Episodic Ataxia, Type 6 |
|
Cerebellar hypoplasia, Truncal ataxia, Hemiparesis, Episodic ataxia, Hemiplegia, Slurred speech, ... |
OMIM:612656 |
Spastic Ataxia 3, Autosomal Recessive |
|
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Spastic ataxia, Ataxia, Dysmetria, Loss of am... |
OMIM:611390 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypo... |
OMIM:603233 |
Eosinophilic Gastroenteritis |
|
Anemia, Weight loss, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... |
ORPHA:2070 |
Leber Congenital Amaurosis |
|
Aplasia/Hypoplasia of the cerebellar vermis, Hemiplegia/hemiparesis, Encephalocele, Abnormality o... |
ORPHA:65 |
Johanson-Blizzard Syndrome |
|
Anemia, Sensorineural hearing impairment, Hypoplasia of penis, Failure to thrive, Diabetes mellit... |
ORPHA:2315 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Retinal hemorrhage, Abnormal ... |
ORPHA:86839 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Hyperinsulinemia, Syncope, Maternal diabetes, Large for gestational ag... |
ORPHA:276580 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Increased C-peptide level, Hyperinsulinemia, Small for gestational age, Decreased circulating fre... |
ORPHA:324575 |
Sub-Cortical Nodular Heterotopia |
|
Spasticity, Subcortical heterotopia, Abnormality of neuronal migration, Polymicrogyria |
ORPHA:101029 |
Pseudohypoparathyroidism, Type Ia |
|
Hypothyroidism, Hypocalcemic tetany, Hyperphosphatemia, Enamel hypoplasia, Hypogonadism, Elevated... |
OMIM:103580 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Retinopathy, Sensorineural hearing impairment, Hyperuricemia, Angioid streaks ... |
OMIM:239000 |
Pseudohypoparathyroidism, Type Ii |
|
Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Pseudohypoparath... |
OMIM:203330 |
Congenital Analbuminemia |
|
Low pulse pressure, Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoprote... |
ORPHA:86816 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Ring Chromosome 21 Syndrome |
|
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea |
ORPHA:1445 |
Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyp... |
ORPHA:99845 |
Leber Hereditary Optic Neuropathy |
|
Optic atrophy, Postural tremor, Retinal vascular tortuosity, Ataxia, Retinal telangiectasia, Arrh... |
ORPHA:104 |
Spinocerebellar Ataxia Type 18 |
|
Gait ataxia, Somatic sensory dysfunction, Titubation, Dysmetria, Head tremor, Cerebellar atrophy |
ORPHA:98771 |
Nephrotic Syndrome, Type 1 |
|
Hypothyroidism, Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Superior cerebellar dysplasia, Gray matter heterotopia, Dandy-Walker malforma... |
OMIM:617622 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Cerebellar hypoplasia, Simplified gyral pattern, Cerebellar cyst, Hydroceph... |
OMIM:613153 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, H... |
ORPHA:2232 |
Hemochromatosis, Type 3 |
|
Anemia, Impotence, Elevated transferrin saturation, Lymphopenia, Increased circulating ferritin c... |
OMIM:604250 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Enterokinase Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:226200 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar dysplasia, Abnormal pyramidal sign, Abnormal cerebellum morphology, Gait imbalance, Hy... |
ORPHA:101070 |
49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... |
ORPHA:99330 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Periventricular heterotopia, Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the p... |
OMIM:616171 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Sensorineural hearing impairment, Centrally nucleated skeletal muscle fibers, Premature ovarian i... |
OMIM:619518 |
Ataxia-Oculomotor Apraxia 3 |
|
Oculomotor apraxia, Ataxia, Dysmetria, Frequent falls, Cerebellar atrophy, Distal sensory impairment |
OMIM:615217 |
|