Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Male infertility, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia, Hypogonadotropic hypogonadism |
ORPHA:1180 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility |
OMIM:617593 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait |
OMIM:605388 |
Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance |
ORPHA:98766 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia |
ORPHA:211017 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca... |
OMIM:615268 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A... |
ORPHA:171622 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:620196 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Ataxia, Abasia |
OMIM:209100 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia, Cerebellar vermis atrophy, Spasticity |
OMIM:618185 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... |
ORPHA:101010 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Cerebellar agenesis |
ORPHA:1397 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Lissencephaly 1 |
|
Spastic tetraparesis, Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Cereb... |
OMIM:607432 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility |
OMIM:261550 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... |
OMIM:619742 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... |
OMIM:617018 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Inability to walk, Periventricular nodular heterotopia, Spastic paraplegia, Cerebellar hypoplasia |
OMIM:618572 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... |
OMIM:615625 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Microlissencephaly |
|
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... |
ORPHA:1083 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor |
OMIM:601238 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... |
ORPHA:94122 |
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
Spinocerebellar Ataxia Type 23 |
|
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... |
ORPHA:101108 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Ankle clonus, Diffi... |
OMIM:611252 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Difficulty walking, Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia |
ORPHA:363432 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Ataxia, Periventricular laminar heterotopia, Pachygyria, Spastic te... |
OMIM:611603 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Spastic tetraplegia, Hypertonia, Lissencephaly, Cerebellar hypoplasia, Pe... |
OMIM:618677 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Cerebellar dysplasia |
OMIM:604213 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
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 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
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 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
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 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia |
OMIM:615705 |
Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Torticollis |
OMIM:611694 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Ataxia, Simplified gyral pattern |
OMIM:613402 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor |
OMIM:608029 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Loss of ambulation, Ataxia, Myoclonus |
OMIM:600143 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadoc... |
OMIM:224050 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia |
OMIM:614322 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Spastic tetraplegia, Hypertonia, Lissencephaly, Pachygyria, Polymicrogyria |
OMIM:618730 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Ataxia |
OMIM:614706 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... |
ORPHA:423275 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... |
ORPHA:276193 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy |
OMIM:615957 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, ... |
OMIM:610357 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Cerebellar vermis hypoplasia, Periventricular heterotopia, Inability to walk, Unsteady gait, Simp... |
OMIM:618273 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign |
OMIM:617770 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... |
OMIM:220200 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Increased circul... |
ORPHA:168563 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Unsteady gait, Babinski sign, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Gait disturbance, Aplasia/Hypoplasia of the cereb... |
ORPHA:2572 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal a... |
OMIM:613728 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio... |
OMIM:302500 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Spasticity, Polymicrogyria |
OMIM:618973 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... |
OMIM:600223 |
Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus |
OMIM:125370 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Hypertonia, Upper limb spasticity |
OMIM:613925 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ata... |
OMIM:616230 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ataxia, Gait disturbance |
ORPHA:1178 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... |
OMIM:605259 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, H... |
OMIM:604326 |
Nescav Syndrome |
|
Cerebellar atrophy, Appendicular spasticity, Ataxia, Inability to walk, Babinski sign, Spasticity... |
OMIM:614255 |
Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Pachygyria |
OMIM:614173 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... |
OMIM:617633 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet... |
OMIM:616127 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Joubert Syndrome 24 |
|
Ataxia, Dysmetria, Gait disturbance, Cerebellar hypoplasia, Spasticity, Pachygyria, Polymicrogyria |
OMIM:616654 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Cerebellar hypoplasia,... |
ORPHA:352682 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... |
OMIM:607565 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... |
OMIM:616204 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokine... |
OMIM:248900 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ataxia, Abnormality of neuronal migration |
OMIM:618709 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Sensorineural hearing impairment, Irregular menstr... |
OMIM:617565 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Spastic tetraplegia, Gray matter heterotopia, Lissencephaly, Pachyg... |
OMIM:615411 |
Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Impaired vibration sen... |
OMIM:605361 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... |
ORPHA:512260 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,... |
OMIM:618090 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Inability to walk, Cerebellar vermis atrophy |
OMIM:619389 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
X-Linked Progressive Cerebellar Ataxia |
|
Unsteady gait, Babinski sign, Limb ataxia, Dysmetria, Spastic dysarthria, Progressive cerebellar ... |
ORPHA:1175 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... |
OMIM:607346 |
Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi... |
OMIM:241600 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait |
OMIM:618387 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... |
OMIM:213200 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ... |
OMIM:117360 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Lo... |
OMIM:256731 |
Pontocerebellar Hypoplasia, Type 2D |
|
Cerebellar atrophy, Appendicular spasticity, Clonus, Chorea, Spastic tetraplegia, Cerebellar verm... |
OMIM:613811 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski ... |
OMIM:617225 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... |
OMIM:610185 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotension, Lethargy, H... |
ORPHA:99828 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Gray matter heterotopia, Lissencephaly, Spasticity, Pachygyria, Agyria |
OMIM:300067 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Dystonia 23 |
|
Cerebellar atrophy, Torticollis, Gait disturbance, Myoclonus, Head tremor |
OMIM:614860 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:352403 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Pachygyria, Gray matter heterotopia, Tip-toe gait, Difficulty walking, Freque... |
ORPHA:370980 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... |
ORPHA:167 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Los... |
OMIM:618088 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... |
OMIM:614831 |
Lissencephaly 5 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi... |
OMIM:615191 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Torticollis, Lower limb spasticity, Impaired te... |
OMIM:619686 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy |
OMIM:618501 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... |
OMIM:603553 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Hypocalcemia, Hyp... |
ORPHA:94093 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia |
OMIM:143100 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... |
OMIM:615960 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Abnormal cortical gyration, Parkinsonism, Olivopontocerebellar hypoplasia, Kinet... |
ORPHA:98756 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... |
OMIM:600224 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal) |
|
Frontal polymicrogyria, Broad-based gait, Hypoplasia of the pons, Perisylvian polymicrogyria, Bab... |
OMIM:606854 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
Alg6-Cdg |
|
Failure to thrive, Ataxia, Puberty and gonadal disorders, Decreased LDL cholesterol concentration... |
ORPHA:79320 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Decreased fertility, Calf muscle hypertrophy, Limb muscle weakness, Testicular atrophy |
OMIM:313200 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Small for gestational age, Elevated circulating creatine kina... |
ORPHA:26793 |
Acalvaria |
|
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl... |
ORPHA:945 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,... |
OMIM:617145 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, ... |
OMIM:300423 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... |
ORPHA:94124 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Subcortical... |
OMIM:615771 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Gordon Holmes Syndrome |
|
Cerebellar atrophy, Chorea, Ataxia |
OMIM:212840 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Sen... |
OMIM:614129 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,... |
OMIM:616050 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... |
OMIM:619028 |
Perrault Syndrome 2 |
|
Sensorineural hearing impairment, Streak ovary, Amenorrhea |
OMIM:614926 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H... |
ORPHA:90362 |
Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements,... |
OMIM:616981 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Cerebellar atrophy, Ataxia, Difficulty walking |
OMIM:619425 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Distal ... |
OMIM:607250 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Cryptorchidism, Flexion contracture, Hypsarrhythmia, Hypoproteinemia |
OMIM:608093 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Ventricular arrhythmia, Autoimmune hypoparathyroidism, Abnormal left ventr... |
ORPHA:36913 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia |
OMIM:612020 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 15B |
|
Monocytosis, Failure to thrive, Reduced natural killer cell count |
OMIM:615592 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hypercholest... |
ORPHA:247585 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Hearing impairment, Increased circulating gonadotr... |
ORPHA:243 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe... |
ORPHA:98 |
Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a... |
OMIM:610246 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... |
ORPHA:3282 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... |
ORPHA:98764 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... |
ORPHA:2239 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Cerebellar hypoplasia, Cerebellar dyspl... |
OMIM:616531 |
Primary Membranoproliferative Glomerulonephritis |
|
Drusen, Hypertension, Hypoalbuminemia, Myocardial infarction |
ORPHA:54370 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Thrombocytosis, Ane... |
OMIM:209950 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia, Sensorineural hearing impairment |
OMIM:221400 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia |
OMIM:618093 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Oromotor apraxia, Hemipar... |
ORPHA:300573 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... |
ORPHA:90064 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... |
ORPHA:248111 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Loss of ambulation |
OMIM:617916 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Reni Syndrome |
|
Hypertriglyceridemia, Ataxia, Cryptorchidism, Sensorineural hearing impairment, Hypogonadism, Hyp... |
OMIM:617575 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity |
OMIM:616494 |
Joubert Syndrome 25 |
|
Oculomotor apraxia, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Hypothyroidism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome... |
OMIM:226300 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... |
OMIM:618369 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia |
ORPHA:71517 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Cerebellar atrophy, Inability to walk, Ataxia, Gait ataxia |
OMIM:617915 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Gait ataxia |
ORPHA:139480 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Dilated fourth ventricle, Broad-based gait, Head titubation, Simplified gyral pattern, Gait ataxi... |
OMIM:620208 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Impaired vibration sensation in the lower limbs, Babin... |
OMIM:159550 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlisse... |
OMIM:616212 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Prolonged QT interval, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulat... |
ORPHA:94090 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... |
OMIM:215470 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Spasticity, Pachygyria, Agyria |
ORPHA:1084 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Hydroxyprolinemia, Sensorineural hearing impairment, Angioid streaks of the fundus,... |
OMIM:239000 |
Episodic Ataxia Type 6 |
|
Cerebellar atrophy, Slurred speech, Ataxia, Hemiplegia |
ORPHA:209967 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypopro... |
ORPHA:2494 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Tachycardia, Hypergonadotropic hypogonadism, Tremor, Retrobulbar optic neuriti... |
OMIM:619737 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,... |
ORPHA:1170 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ata... |
OMIM:607136 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... |
OMIM:617810 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia |
OMIM:616871 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dil... |
OMIM:618805 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Pseudohypoparathyroidism... |
OMIM:612462 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Limb ataxia, Truncal a... |
OMIM:617560 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Pr... |
OMIM:210000 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... |
ORPHA:98759 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Hypo... |
ORPHA:507 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Leber Hereditary Optic Neuropathy |
|
Postural tremor, Ataxia, Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Retina... |
ORPHA:104 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
Hypergonadotropic hypogonadism, Ataxia |
ORPHA:88637 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... |
OMIM:613752 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Lymphopenia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia,... |
ORPHA:486 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Truncal ataxia, Limb ataxia, ... |
OMIM:208920 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py... |
ORPHA:101070 |
Episodic Ataxia, Type 6 |
|
Cerebellar atrophy, Slurred speech, Hemiparesis, Cerebellar hypoplasia, Truncal ataxia, Episodic ... |
OMIM:612656 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Congestive heart failure, Optic atrophy, Fatigable weakness, Hyperphosphatemia, H... |
ORPHA:428 |
Spastic Ataxia 3, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Loss of ambulation, Spasticit... |
OMIM:611390 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Congestive heart failure, Leukocytosis, Dilat... |
OMIM:615895 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma... |
OMIM:617622 |
Leber Congenital Amaurosis |
|
Encephalocele, Hemiplegia/hemiparesis, Abnormality of neuronal migration, Aplasia/Hypoplasia of t... |
ORPHA:65 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Distal s... |
OMIM:603516 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration, Spasticity |
ORPHA:101029 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Large for gestational age, Hyperinsulinemia, Decreased circulating free fatty acid l... |
ORPHA:276575 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis, Dystonia |
OMIM:610181 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor func... |
OMIM:610743 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... |
ORPHA:370022 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... |
OMIM:618883 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... |
ORPHA:251347 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho... |
ORPHA:99845 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Papilledema, Transient hypophosphatemia, Small for gestational age, Retinal c... |
OMIM:127000 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Simplified gyral pattern... |
OMIM:616171 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, ... |
OMIM:613153 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Pal... |
ORPHA:276556 |
Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Symmetrical Thalamic Calcifications |
|
Spasticity, Hypertonia, Ataxia, Abnormality of neuronal migration |
ORPHA:1314 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le... |
OMIM:603233 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... |
OMIM:240950 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Polymicrogyri... |
OMIM:615181 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... |
ORPHA:2070 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic par... |
OMIM:614487 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Frequent falls |
OMIM:615217 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Thyroid lymphangiectasia, Cryptorchidism, Splenomegaly, Pancreatic lymphangiecta... |
OMIM:235255 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Abnormality of the female genitalia, Sensori... |
ORPHA:2315 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Ataxia, Peric... |
OMIM:212065 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia,... |
OMIM:608104 |
Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-on... |
ORPHA:324575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Syncope, Type I diab... |
ORPHA:276580 |
Pseudohypoparathyroidism, Type Ia |
|
Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Hypogonadism, Elevated circulating parathyr... |
OMIM:103580 |
Enterokinase Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:226200 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... |
OMIM:203330 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Abnormal fallopian tube morphology, Cryptorchidism, Splenomegaly, Pancreatic lym... |
ORPHA:1655 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Decreased circul... |
OMIM:241410 |
Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Hypoplasia of penis, Cryptorchidism, ... |
ORPHA:110 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Small hypothen... |
ORPHA:2232 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Limb ataxia, Dysmetria, Ankle clonus, Progressive cerebellar ... |
ORPHA:284289 |
Relapsing Fever |
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Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... |
ORPHA:91547 |
Spinocerebellar Ataxia Type 21 |
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Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Premature ovarian insufficiency, Female infertility, Centrally nucleated skeletal muscle fibers, ... |
OMIM:619518 |
Partial Androgen Insensitivity Syndrome |
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Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... |
OMIM:618598 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Papilledema, Retinal calcification, Anemia, Abnormal circulating follicle-stimulating hormone con... |
ORPHA:93325 |
Autosomal Spastic Paraplegia Type 58 |
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Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... |
ORPHA:397946 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
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Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Spinocerebellar Ataxia 6 |
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Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... |
OMIM:183086 |
Intellectual Developmental Disorder, X-Linked 92 |
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Decreased testicular size |
OMIM:300851 |
Immunodeficiency 53 |
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Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Failure to thrive |
OMIM:617585 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
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Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Small for gestational age, Cryptorchidism, Elevated circulating thyroid-stimulating hormone conce... |
OMIM:101800 |
Mucopolysaccharidosis-Plus Syndrome |
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Inability to walk, Congestive heart failure, Flexion contracture, Optic atrophy, Thrombocytopenia... |
OMIM:617303 |
Wolcott-Rallison Syndrome |
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Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Neutropenia, Hyperammonemia, Central ... |
ORPHA:1667 |
Malignant Hyperthermia, Susceptibility To, 2 |
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Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Null Syndrome |
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Ataxia, Inability to walk, Abnormal cerebellum morphology, Progressive spastic quadriplegia, Diff... |
ORPHA:280234 |
Chiari Malformation Type Ii |
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Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Gray matter heterotopia, Cer... |
OMIM:207950 |
Urocanic Aciduria |
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Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
46,Xx Ovotesticular Difference Of Sex Development |
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Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Malignant Hyperthermia, Susceptibility To, 3 |
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Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Mental retardation, x-linked, syndromic, Turner type |
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Macroorchidism |
OMIM:300706 |
Hemochromatosis, Type 3 |
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Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
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Cerebellar hypoplasia, Babinski sign, Pachygyria, Abnormality of neuronal migration |
OMIM:608840 |
Deafness, Autosomal Recessive 9 |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Macrophage Activation Syndrome |
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Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
Blue Diaper Syndrome |
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Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... |
ORPHA:94086 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
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Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia |
OMIM:614306 |
Congenital Enterovirus Infection |
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Abnormal macrophage morphology, Myocarditis, Leukocytosis, Thrombocytopenia, Hyperammonemia, Card... |
ORPHA:292 |
Familial Paroxysmal Ataxia |
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Hemiplegia, Torticollis, Ataxia, Cerebellar vermis atrophy |
ORPHA:97 |
Hypocalcemia, Autosomal Dominant 1 |
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Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... |
OMIM:601198 |
Spinocerebellar Ataxia 2 |
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Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,... |
OMIM:183090 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
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Spastic tetraparesis, Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, He... |
OMIM:604317 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
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Cerebellar atrophy, Ataxia, Dysmetria |
OMIM:618384 |
Immunodeficiency 24 |
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Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Leukopenia, Hypoplasia of the thymus, Neutropenia, Perianal abscess, Cryptorchidism, Hepatospleno... |
OMIM:612541 |
Frasier Syndrome |
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Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... |
ORPHA:347 |
Pseudopseudohypoparathyroidism |
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Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid... |
ORPHA:79445 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Distal amyotrophy, Facial palsy, Abnormal auditory evo... |
OMIM:601382 |
Complete Androgen Insensitivity Syndrome |
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Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Deafness, Autosomal Recessive 104 |
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Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
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Cerebellar atrophy, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Cerebellar hypopla... |
ORPHA:313772 |
Generalized Pustular Psoriasis |
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Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Congestive heart... |
ORPHA:247353 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Hypoalbuminemia, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Pseudohypoparathyroidism Type 1C |
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Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79444 |
Pseudohypoparathyroidism Type 1A |
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Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79443 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Diabetes mellitus, Retinal dystrophy, Cardiac arrest, Megaloblastic anemia, Congestive heart fail... |
ORPHA:49827 |
Gonadoblastoma |
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Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Spinocerebellar Ataxia Type 8 |
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Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Rigidity, Unste... |
ORPHA:98760 |
Spinocerebellar Ataxia 36 |
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Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ... |
OMIM:614153 |
Meckel Syndrome 13 |
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Oculomotor apraxia, Occipital encephalocele, Ataxia, Cerebellar hypoplasia |
OMIM:617562 |
Hypoparathyroidism, Familial Isolated, 1 |
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Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... |
OMIM:146200 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
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Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Spastic Paraplegia 79B, Autosomal Recessive |
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Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,... |
OMIM:615491 |
Aromatase Deficiency |
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Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Band Heterotopia |
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Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Spasticity, Polymicrogyria |
OMIM:600348 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
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Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:619398 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Tachycardia, Tremor, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia, ... |
ORPHA:276608 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Sanjad-Sakati Syndrome |
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Low-set, posteriorly rotated ears, Hypoparathyroidism, Hypoplasia of penis, Abnormal dental ename... |
ORPHA:2323 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Ataxia, Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating... |
ORPHA:64753 |
Diarrhea 13 |
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Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
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Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
Parkinsonism-Dystonia 3, Childhood-Onset |
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Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Act... |
OMIM:619738 |
Familial Infantile Myoclonic Epilepsy |
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Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus, Perivent... |
ORPHA:352582 |
Hemorrhagic Fever-Renal Syndrome |
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Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevate... |
ORPHA:340 |
Ataxia-Pancytopenia Syndrome |
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Cerebellar atrophy, Ataxia, Unsteady gait, Gait disturbance, Aplasia/Hypoplasia of the cerebellum |
ORPHA:2585 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Satoyoshi Syndrome |
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Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Xfe Progeroid Syndrome |
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Premature ovarian insufficiency, Cachexia, Hearing impairment, Absence of subcutaneous fat, Optic... |
OMIM:610965 |
Pseudohypoparathyroidism Type 1B |
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Calcinosis, Prolonged QT interval, Decreased response to growth hormone stimulation test, Pseudoh... |
ORPHA:94089 |
Aicardi-Goutieres Syndrome 9 |
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Hemolytic anemia, Pericarditis, Portal hypertension, Optic atrophy, Chorioretinal atrophy, Weight... |
OMIM:619487 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
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Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... |
ORPHA:247815 |
Intellectual Developmental Disorder, X-Linked 12 |
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Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Abnormality of neuronal mig... |
OMIM:300957 |
Nodular Neuronal Heterotopia |
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Abnormality of neuronal migration |
ORPHA:2149 |
Al Amyloidosis |
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Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Howell-... |
ORPHA:85443 |
Brugada Syndrome |
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Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Androgen Insensitivity, Partial |
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Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
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Ataxia, Elevated circulating creatine kinase concentration, Cardiac arrest, Premature thelarche, ... |
OMIM:616878 |
Periventricular Nodular Heterotopia 1 |
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Cerebellar hypoplasia, Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
3-Methylglutaconic Aciduria, Type Iv |
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Cerebellar dysplasia |
OMIM:250951 |
Galloway-Mowat Syndrome 8 |
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Enamel hypoplasia, Hypoalbuminemia, Hearing impairment |
OMIM:618349 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
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Cerebellar atrophy, Babinski sign, Sensory ataxia, Gait ataxia |
ORPHA:445062 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Interictal EEG abnormality, Optic disc pallor, Tachycardia, Pigmentary retinopathy, Loss of ambul... |
ORPHA:79264 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Abnormality of the diaphragm, Congenital diaphragmatic hernia, Testicular atrophy, Low-set ears |
OMIM:601163 |
Nephrotic Syndrome, Type 2 |
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Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
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Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:255100 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hypopituitarism, Hy... |
OMIM:619013 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Ataxia, Pigmentary retinopathy, Neutropenia, Intention tremor |
OMIM:266130 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Hemophagocytic Syndrome Associated With An Infection |
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Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Thrombo... |
ORPHA:158048 |
Spinocerebellar Ataxia Type 10 |
|
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Unsteady gait, Babinski sign, Dysmetri... |
ORPHA:98761 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Distal sensory impairment, Spasticity, Inte... |
OMIM:612674 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Inability to walk, Con... |
ORPHA:505248 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Abnor... |
ORPHA:206594 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Fasciitis, Elevated circulating creatine kinase concentration, Abscess, Myoca... |
ORPHA:36234 |
Coproporphyria, Hereditary |
|
Splenomegaly, Hypertension, Tachycardia |
OMIM:121300 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... |
OMIM:277460 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Positive Romberg sign, Cerebellar vermis at... |
OMIM:614575 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypog... |
OMIM:157640 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Hyperkalemia, Ventricular tachycardia, Premature ventricula... |
ORPHA:423 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Congenital Disorder Of Glycosylation, Type Iii |
|
Cerebellar atrophy, Truncal ataxia |
OMIM:613612 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Co... |
OMIM:607454 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Dystonia,... |
OMIM:616267 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hypoalbuminemia, ... |
ORPHA:14 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Short sperm flagella, Male infertility |
OMIM:620197 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Diabetes insipidus, Megaloblastic anemia, Tremor... |
OMIM:222300 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Prema... |
ORPHA:3464 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... |
OMIM:610628 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... |
ORPHA:449285 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Thrombocytopenia, Splenomegaly, ... |
ORPHA:64743 |
Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Hypoalbuminemia, Decreased response to growth hormone stimulation test, Decreased... |
OMIM:618347 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Scarring, Foot joint contracture, Tremor, Cryptorchi... |
ORPHA:90321 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Enamel hypoplasia, Hyperphosphatemia, Angioid streaks of the fundus |
OMIM:211900 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Decreased serum insulin-like growth factor 1, Abnormal pinna mo... |
ORPHA:79324 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Splenomegaly, Optic atrophy, Neutropenia, Hyperammonemia, Choreoathetosis, Card... |
ORPHA:79312 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi... |
ORPHA:563 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
Spinocerebellar Ataxia 27A |
|
Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:193003 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Sensorineural hearing impairm... |
ORPHA:540 |
Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Tremor, Opisthotonus, Hypertensi... |
ORPHA:3299 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, ... |
ORPHA:466650 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... |
ORPHA:529799 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Calciphylaxis |
|
Hyperphosphatemia, Secondary hyperparathyroidism, Cellulitis |
ORPHA:280062 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:613239 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m... |
ORPHA:101030 |
Fibronectin Glomerulopathy |
|
Hypertension, Hypoalbuminemia, Cerebral hemorrhage |
ORPHA:84090 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Sensorineur... |
ORPHA:52368 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... |
OMIM:614172 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Congestive heart failure, Leukocytosis, Weight loss, Hypoalbuminemia... |
ORPHA:67 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly |
ORPHA:89844 |
Ravine Syndrome |
|
Failure to thrive, Ataxia, Abnormal auditory evoked potentials, Decreased body weight |
ORPHA:99852 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... |
OMIM:137440 |
Gillespie Syndrome |
|
Cerebellar atrophy, Ataxia, Postural tremor, Slurred speech, Cerebellar hypoplasia |
OMIM:206700 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Lethargy, Abnorm... |
ORPHA:99826 |
Tularemia |
|
Brain abscess, Tachycardia, Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess |
ORPHA:3392 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Clonus, ... |
ORPHA:370959 |
Hereditary Coproporphyria |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Atypical scarring of ski... |
ORPHA:79273 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Hypocalcemia, Lymphocytosis,... |
OMIM:619991 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We... |
ORPHA:103910 |
Myotonic Dystrophy 1 |
|
Cerebral atrophy, Facial diplegia, Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Large for gestational age, Tremor, Abnormal circulating fatty-acid concentration, Hy... |
ORPHA:263455 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, C... |
OMIM:235200 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Lymphocytosis, Hearing impairment |
ORPHA:79087 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Pachygyria, Ataxia, Cerebellar hypoplasia, Periventricular heterotopia |
ORPHA:255138 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Hyperthyroidism, Failure to thrive in infancy, Cachexia, Autoimmune ... |
ORPHA:37042 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,... |
ORPHA:45452 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... |
OMIM:246700 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Optic atrophy, Neutropenia, Hyperammonemia, Choreoathetosis, Dystonia, Lethargy... |
ORPHA:289916 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Cu... |
OMIM:110100 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Ataxia, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials... |
OMIM:619260 |
Joubert Syndrome 23 |
|
Cerebellar dysplasia |
OMIM:616490 |
Alg1-Cdg |
|
Cardiomyopathy, Hypoalbuminemia |
ORPHA:79327 |
Ataxia-Telangiectasia |
|
Lymphopenia, Diabetes mellitus, Ataxia, Telangiectasia of the skin, Tremor, Polycystic ovaries, A... |
ORPHA:100 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Chorioretinal hyperpigmentation, Sensorineural hearing impairment, Optic atrophy, Hypoalbuminemia... |
OMIM:618329 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Titubation, Ga... |
ORPHA:98768 |
Congenital Fibrinogen Deficiency |
|
Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Splenic rupture, Opisthotonus, ... |
ORPHA:335 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:615184 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration |
ORPHA:2772 |
Colchicine Poisoning |
|
Hyponatremia, Congestive heart failure, Myocarditis, Leukocytosis, Hypovolemia, Abnormal blood io... |
ORPHA:31824 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... |
ORPHA:1215 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Intention trem... |
OMIM:254900 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Flexion contracture, Hepat... |
ORPHA:367 |
Neurocutaneous Melanocytosis |
|
Meningocele, Abnormality of neuronal migration, Hemiparesis, Chiari malformation, Aplasia/Hypopla... |
ORPHA:2481 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypoalbuminemia, Hyperinsulinemic hypoglycemia,... |
ORPHA:79319 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Overweight, Sple... |
ORPHA:90041 |
Cln3 Disease |
|
Ataxia, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Increased circulating andr... |
ORPHA:228346 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Congestive heart failu... |
OMIM:171420 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Tachycardia, Diabetes mellitus, Opisthotonus, Hypertension, Anemia |
OMIM:184850 |
Crome Syndrome |
|
Cerebellar dysplasia |
OMIM:218900 |
Cystinosis |
|
Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroidism, Hypokalemia, Gait disturbanc... |
ORPHA:213 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... |
OMIM:616881 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Diabetes mellitus, Hypogonadotropic hypogonadism, Por... |
ORPHA:465508 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
Joubert Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Abnormality of neuron... |
ORPHA:475 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Vulval varicose vein, Weight los... |
ORPHA:71273 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Sepsis In Premature Infants |
|
Tachycardia, Small for gestational age, Elevated circulating C-reactive protein concentration, Th... |
ORPHA:90051 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Polymicrogyria, Enlarged cerebellum, Ataxia |
ORPHA:65285 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Aganglionic megacolon, Posteriorly rotated ears, Cupped ear, Flexion contracture, In... |
OMIM:613870 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Diabetes mellitus, ST segment elevation, Ventricular tachycardia,... |
ORPHA:263297 |
Wilson Disease |
|
Limb dystonia, Hemolytic anemia, Hypoparathyroidism, Decreased circulating ceruloplasmin concentr... |
OMIM:277900 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Generalized dystonia, Ataxia, Pancytopenia, Dilated cardiomyopathy, Gait ataxia, Hyp... |
OMIM:618321 |
Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Hypertension, Ma... |
OMIM:609049 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Hemimegalencephaly |
|
Hemiparesis, Gray matter heterotopia, Myoclonus, Pachygyria, Polymicrogyria, Abnormal neuron morp... |
ORPHA:99802 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... |
ORPHA:314478 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Increased total... |
ORPHA:90037 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Oligozoospermia, Right bundle br... |
OMIM:602668 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Wolff-Parkinson-White syndrome, Ataxia, Sensorineural hearing impairment, Optic atrophy, Truncal ... |
OMIM:601338 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased serum iron, Dilated cardiomyopathy, Flexion contracture, Atypical sc... |
ORPHA:89842 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Se... |
OMIM:242150 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating creatine kinase concentration, Cardiac arrest, Ventricular tachycardia, Atri... |
OMIM:212138 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... |
ORPHA:3240 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... |
OMIM:301080 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Weight loss, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis |
OMIM:606445 |
Linear Verrucous Nevus Syndrome |
|
Retinopathy, Aplasia/Hypoplasia of the fovea, Hypophosphatemia |
ORPHA:2611 |
Porphyria Variegata |
|
Hyponatremia, Tachycardia, Scarring, Abnormal circulating porphyrin concentration, Hypertension, ... |
ORPHA:79473 |
High Altitude Pulmonary Edema |
|
Leukocytosis, Tachycardia |
ORPHA:330012 |
Cockayne Syndrome A |
|
Tremor, Micropenis, Loss of facial adipose tissue, Retinal atrophy, Ataxia, Retinal pigment epith... |
OMIM:216400 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H... |
OMIM:607115 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Abnormality of neuronal migration |
ORPHA:2518 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, T... |
OMIM:615673 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... |
ORPHA:320401 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Maternal Hyperthermia-Induced Birth Defects |
|
Hypertonia, Abnormality of neuronal migration |
ORPHA:2216 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Hypoalbuminemia, Abnormal salivary g... |
ORPHA:2298 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati... |
OMIM:613327 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Galloway-Mowat Syndrome 1 |
|
Small for gestational age, Ataxia, Hiatus hernia, Optic atrophy, Joint contracture of the hand, H... |
OMIM:251300 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Ventricular tachycard... |
OMIM:600649 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ... |
ORPHA:101016 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Impaired neutrop... |
OMIM:618986 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Hypoproteinemia |
OMIM:260450 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Cerebral palsy, Ataxia, Abnormal neuron morphology, Abnormality of neurona... |
ORPHA:163681 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hyper... |
OMIM:617994 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Tremor, Flexion contracture, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Action tremor, Gai... |
ORPHA:99027 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Tachycardia, Failure to thrive in infancy, Elevated c... |
ORPHA:264675 |
Glutathionuria |
|
Tremor, Gray matter heterotopia, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Hip contracture, Flexion contracture of finger, Shoulder flexion contracture,... |
OMIM:193700 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Abnormal endocrine physiology, Pr... |
ORPHA:562 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbu... |
OMIM:251880 |
Graft Versus Host Disease |
|
Tachycardia, Dupuytren contracture, Fasciitis, Lipodystrophy, Hepatosplenomegaly, Hemophagocytosi... |
ORPHA:39812 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Small for gestational age, Thrombocytosis, Increased mean platelet volume, ... |
OMIM:222470 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... |
ORPHA:79102 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Sneddon Syndrome |
|
Facial palsy, Cerebral hemorrhage, Tremor, Hypertension, Atrophic scars, Ischemic stroke, Lymphop... |
OMIM:182410 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Sensorineural hearing impairment, Leukocytosis, Weight l... |
ORPHA:3226 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor apraxia, Perisylvian p... |
ORPHA:98889 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... |
OMIM:618183 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... |
OMIM:611705 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility... |
ORPHA:572333 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia |
OMIM:141000 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Scapular wingi... |
ORPHA:101085 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia |
OMIM:616730 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Enlarged cerebellum, Simplified gyral pattern, Ataxia |
OMIM:620047 |
Leptospirosis |
|
Papilledema, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctiv... |
ORPHA:509 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hypocalcemia, Neutropenia, Hypothyroidism,... |
ORPHA:699 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Lar... |
ORPHA:485405 |
Mercury Poisoning |
|
Tachycardia, Tremor, Hypertension, Hypokalemia, Hypotension, Dystonia |
ORPHA:330021 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Inability to walk, Flexion contracture, Optic at... |
OMIM:609541 |
Müllerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Protruding ear, Hypoplasia of the uterus, Increased serum testosterone level,... |
ORPHA:247768 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce... |
ORPHA:169154 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Macrogy... |
ORPHA:899 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Ataxia, Cardiac ... |
ORPHA:466677 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Glomus tympa... |
OMIM:168000 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neuronal migra... |
ORPHA:2318 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus... |
OMIM:208900 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... |
ORPHA:567548 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Right ventricular failure, Reduced circulating transferrin concentration, Intestinal... |
ORPHA:90363 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Dysmenorrhea, Increased intraabdominal fat, Decreased ad... |
ORPHA:280365 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Cachexia, Hematochezia, Melena, Intestinal bleedi... |
ORPHA:79076 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia... |
OMIM:601005 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Conjugated hyperbilirubinemia, Sensorineural hearing impairment, Hyper... |
OMIM:617093 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Dandy-Walker malformation, Subcortical heterotopia, Agyria, Hydrocephalus, Gray ma... |
OMIM:614643 |
Leopard Syndrome 1 |
|
Scapular winging, Hypospadias, Posteriorly rotated ears, Delayed menarche, Cryptorchidism, Sensor... |
OMIM:151100 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Brain abscess, Neoplasm of the pan... |
ORPHA:2929 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Sensorineural hearing impairment, Hypophosphatemia |
OMIM:241520 |
Cinca Syndrome |
|
Elevated circulating C-reactive protein concentration, Abnormality of neutrophils, Retrobulbar op... |
ORPHA:1451 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Thyroid lymphangiectasia, Cryptorchidism, Sensorineural hearing impairment, Hypoalbuminemia, Low-... |
OMIM:235510 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy, Diff... |
ORPHA:320406 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Congest... |
ORPHA:75564 |
Dent Disease 2 |
|
Umbilical hernia, Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Nephrotic Syndrome, Type 8 |
|
Sensorineural hearing impairment, Hypoalbuminemia |
OMIM:615244 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Periventricular heterotopia, Rigidity, Hydrocephalus, Spastic tetraplegia, Chiari type I ... |
OMIM:618476 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Highly elevated creatine kinase, Hypertrophic cardiomyopathy, Tachycardia, Elevated circulating c... |
ORPHA:368 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... |
ORPHA:542323 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Polysplenia, Conductive hearing impairment, Rod-c... |
ORPHA:244 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Tachycardia, Ataxia, Optic atrophy, Hypertension, Gait dis... |
ORPHA:1764 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... |
ORPHA:444463 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Ataxia, Small for gestational age, Abnormal auditory evoked ... |
OMIM:133540 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous... |
OMIM:608800 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
Tay-Sachs Disease |
|
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Pre... |
ORPHA:845 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased nerve conduction veloci... |
ORPHA:206443 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia |
OMIM:174900 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Glomus jugular tumor, Adrenal phe... |
OMIM:605373 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... |
OMIM:619743 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
Pheochromocytoma |
|
Tachycardia, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Congestive heart failu... |
OMIM:171300 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... |
ORPHA:300751 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Orbital encephalocele, Dandy-Walker malformation |
OMIM:164180 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Optic atrophy, Hyperammonemia, Bradycardia, Dystonia, Hyperalaninemia,... |
OMIM:614702 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati... |
ORPHA:98855 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Abnormal atrioventricular valve physiology, Right... |
ORPHA:1329 |
Mogs-Cdg |
|
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... |
ORPHA:79330 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia, Syncope, Bilateral sensorineural hearing impairment, Torsade de pointes, ... |
ORPHA:90647 |
Sandhoff Disease |
|
Exaggerated startle response, Orthostatic hypotension, Ataxia, Hepatosplenomegaly, Impotence, Che... |
OMIM:268800 |
Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Vertigo, Decreased fertility in males, Delayed ... |
ORPHA:2965 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Congestive he... |
OMIM:300257 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei... |
OMIM:617099 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ventricular tachycardia, Hyperammonemia, Cardio... |
ORPHA:159 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormal blood ion concentration, Hypokalemia, Hypovolemic shock, Hypo... |
ORPHA:173 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Chronic lymphat... |
ORPHA:90033 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Lymphopenia, Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Increased ci... |
OMIM:613179 |
Vitamin D-Dependent Rickets, Type 2A |
|
Elevated circulating parathyroid hormone level, Difficulty walking, Hypophosphatemia, Secondary h... |
OMIM:277440 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... |
OMIM:612158 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Increased circulating osteocalcin level, Decreased circulating parathyroid hormone... |
ORPHA:157215 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati... |
ORPHA:98853 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Difficulty walking, Hypophosphatemi... |
OMIM:264700 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Failure to thrive, Optic nerve hypoplasia, Inability to walk, Joint... |
OMIM:617864 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hypert... |
ORPHA:91347 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Large e... |
OMIM:305400 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Oculomotor apraxia,... |
OMIM:617822 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Weight loss, Central hypothyroidism, Progressive hearing ... |
ORPHA:514 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Abnormal pyramidal sign, Spastic tetraplegia, Spastic diplegia, Gray matter heterotopia, Spasticity |
OMIM:617008 |
Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Tachycardia, Congenital sensorineural hearing impa... |
ORPHA:79155 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Galloway-Mowat Syndrome 3 |
|
Hiatus hernia, Hypertension, Hypoalbuminemia, Low-set ears, Camptodactyly, Failure to thrive |
OMIM:617729 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Abnormality of cartilage of external ear, Heart murmur, Hypocalc... |
ORPHA:3426 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Mirage Syndrome |
|
Hyponatremia, Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Shawl scrotum, Cry... |
OMIM:617053 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Portal hypertension, Spider hemangioma, Congestive heart failure,... |
ORPHA:171 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Decreased circulating parathyroid hormone level, Abnormal circulating calcium concentration, Diff... |
OMIM:241530 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Congestive heart failure, Hypoalbuminemia, Hyper... |
OMIM:617156 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Small for gestational age, Cardiac shunt, Maternal diabetes, Congestive heart failur... |
ORPHA:860 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati... |
ORPHA:98863 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Hydroc... |
ORPHA:1454 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro... |
ORPHA:29073 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Abnormal adipose tissue morphology, Gait disturbance, Hypocalcemia, Hypophos... |
ORPHA:93160 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Congestive ... |
ORPHA:31826 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Hypernatremia, Pulmonic stenosis, Failure to thrive, Reduced circulating growth ... |
OMIM:615508 |
Cystinosis, Nephropathic |
|
Male infertility, Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Retinal pigment ... |
OMIM:219800 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Neutrophilia, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Le... |
ORPHA:36238 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parath... |
OMIM:239200 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Hypertonia, Abnormality of neuronal migration |
ORPHA:1895 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat... |
OMIM:253800 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Penoscrotal hypos... |
OMIM:270400 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Small for gestational ... |
OMIM:609152 |
Gitelman Syndrome |
|
Prolonged QT interval, Ataxia, Ventricular tachycardia, Hypokalemia, Increased circulating renin ... |
OMIM:263800 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613424 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Upper limb muscle weakness, EEG abnormality, Erec... |
ORPHA:206448 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failure to thrive, Anemia |
ORPHA:79396 |
Mevalonic Aciduria |
|
Optic disc pallor, Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase co... |
OMIM:610377 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Intraventricular h... |
OMIM:619055 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Failure to thrive, Hypocalcemia, Difficulty walking, Hypophosphatemia |
OMIM:600081 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypop... |
ORPHA:99879 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Inguinal hernia, Pancytopenia, Small for gestational age, Small scrotum, Portal hypertension, Hyp... |
OMIM:613658 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Protruding ear, Gonadal dysgenesis, ... |
OMIM:618820 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Decreased proportion o... |
OMIM:619705 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a... |
ORPHA:97214 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic nerve hypoplasia, Flexion contracture, Optic atrophy, Hypoplasia of the ovary, Micropenis, ... |
OMIM:619321 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Hyperlipidemia, Hydrocele testis, Hypertension, Hypoalbuminemia |
ORPHA:567546 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Small for gestational age, Leukocytosis, Bradycardia, Hypotension, Neutropen... |
ORPHA:391673 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hip contracture, Hypoparathyroidism, Hypercalcemia, Knee flexion contracture, Hypo... |
OMIM:156400 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Failure to thrive, T lymphocytopenia, B lymphocytopenia, Pulmonary insufficiency |
ORPHA:277 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Broad-based gait, Inguinal hernia, Ataxia, Diabetes mellitus, Cryptorchidism, Sensor... |
OMIM:616541 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypertension, Hypophosphatemia |
OMIM:618913 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Goiter, Thyroiditis, Angioid streaks of the fundus, Hydrocele testis, Ovarian cy... |
OMIM:158350 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Small for gestational age, Elevated circulating creati... |
OMIM:618775 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Decreased serum insulin-like growth factor 1, Elevated circulating creatine kinase c... |
OMIM:614921 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Syncope... |
OMIM:220400 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Abnormality of the t... |
ORPHA:186 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... |
ORPHA:57777 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Periventricular heterotopia, Alobar holoprosencephaly, Aqueductal stenosis, P... |
OMIM:619895 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Serotonin Syndrome |
|
Tachycardia, Tremor, Hypertension, Hypotension, Abnormality of the autonomic nervous system |
ORPHA:43116 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:603373 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Lethargy, Hypothyroidism... |
ORPHA:254892 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolonged PR interva... |
ORPHA:542306 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Spina bifida, Pachygyria, Abnormality of neuronal migration, Macrogyr... |
ORPHA:2671 |
Fibrous Dysplasia Of Bone |
|
Antalgic gait, Hyperthyroidism, Hypercalcemia, Testicular neoplasm, Precocious puberty in females... |
ORPHA:249 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Polymicrogyria, Cerebellar hypoplasia |
OMIM:617397 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia, Cellulitis |
OMIM:266265 |
Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Exaggerated startle response, Mitral regurgitation, Hepatosplenome... |
ORPHA:309155 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Difficulty walking, Hypophosphatemi... |
ORPHA:289157 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia... |
OMIM:614653 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Ataxia, Portal hypertension, Elevated circulating C-reactive protein concentration,... |
OMIM:615688 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, C... |
ORPHA:231222 |
Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Splenomegaly, Hypocalcemia, Hypophosphatemia, Pulmonary arterial hypertension, Optic nerv... |
ORPHA:667 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Ataxia |
OMIM:617201 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:93274 |
Vici Syndrome |
|
Hypoplasia of the pons, Gray matter heterotopia, Cerebellar hypoplasia |
ORPHA:1493 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Sensorineural hea... |
ORPHA:760 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Cerebral vasculitis, Leukocytosis, Abnormal autonomic nervous system physiology, Hy... |
ORPHA:83601 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Chorioretinal dysplasia, Protruding ear, Hyponatremia, Low-se... |
ORPHA:534 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Degcags Syndrome |
|
Leukopenia, Iron deficiency anemia, Hypospadias, Hiatus hernia, Congenital hypoplastic anemia, Cr... |
OMIM:619488 |
Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Opisthotonus, Choreoathetosis, Hyperuricemia, Dystonia, Testicular atrophy |
OMIM:300322 |
Ogden Syndrome |
|
Maternal diabetes, Ventricular tachycardia, Protruding ear, Iron deficiency anemia, Supraventricu... |
OMIM:300855 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Cerebellar atrophy, Torticollis, Hypoplasia of the musculature... |
ORPHA:79328 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A... |
ORPHA:85450 |
Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Myocarditis, L... |
ORPHA:829 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Shortened QT interval, Primary hyp... |
ORPHA:143 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Vasculitis, Decreased mean platelet volume... |
OMIM:617718 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Tachycardia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Enamel hypomineralization, Elevated circulating parat... |
OMIM:307800 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Vici Syndrome |
|
Lymphopenia, Elevated circulating creatine kinase concentration, Macular atrophy, Congestive hear... |
OMIM:242840 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Optic disc pallor, Ataxia, Optic neuropathy, Abnormal auditory evoked potentials,... |
ORPHA:909 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Pgm3-Cdg |
|
Hemolytic anemia, Mild neurosensory hearing impairment, Lymphopenia, Ataxia, Abnormal proportion ... |
ORPHA:443811 |
Pmm2-Cdg |
|
Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Intr... |
ORPHA:79318 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Pancytopenia, Small for gestational age, Transient ischemic attack, Bilateral cryp... |
OMIM:242900 |
Desmosterolosis |
|
Abnormal cortical gyration, Pachygyria, Rigidity, Hydrocephalus, Abnormality of neuronal migratio... |
ORPHA:35107 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... |
OMIM:613873 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebellar vermis hypoplasia, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polym... |
ORPHA:157 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosem... |
OMIM:227810 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Adrenal overactivity, Hypertension, Pheochromocytoma, A... |
ORPHA:139411 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Type II liss... |
OMIM:615287 |
6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Gait ataxia, Gray matt... |
ORPHA:75857 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Bilateral cryptorchidism, Low-set ears, Neutropenia, Failure to thrive, Hearing impa... |
OMIM:616395 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Flexion contracture, Optic atrophy, Elbow flexion ... |
OMIM:617301 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Shortened QT interval, Primary hyp... |
ORPHA:99880 |
Autoimmune Lymphoproliferative Syndrome |
|
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... |
ORPHA:3261 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Ataxia, Myocarditis, Splenomegaly, Hypotension, Cellulitis, Arrhythmi... |
ORPHA:549 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Hearing impairment |
OMIM:620327 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Abnormal odontoid tissue morpho... |
ORPHA:79255 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Abnormal blood ion concentration, Pigmentary retinopathy, Hypo... |
ORPHA:411629 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Trisomy 10P |
|
Absent gallbladder, Decreased muscle mass, Posteriorly rotated ears, Abnormal auditory evoked pot... |
ORPHA:171929 |
Acute Intermittent Porphyria |
|
Tremor, Hypertension, Hyponatremia, Tachycardia |
ORPHA:79276 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Absent extraocular muscles, Abnormal auditory evoked potentials |
OMIM:109120 |
Tetrasomy 18P |
|
Gait disturbance, Abnormality of neuronal migration |
ORPHA:3307 |
Cushing Disease |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body ... |
ORPHA:96253 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Optic atrophy, Dysmetria, Knee flexion contracture, Rectovaginal fistula... |
OMIM:619708 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Macroti... |
OMIM:615574 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia, Genital ulcers |
OMIM:616744 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Posteriorly rotated ears, Eosinophili... |
OMIM:617237 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Small for gestational age, Transient ischemic attack, Abnormality of thyroid physiol... |
ORPHA:1830 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, ... |
OMIM:600740 |
X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Hypospadias, Asymmetry of the ears, Cryptorchidism, Cupped ear, EEG abnorm... |
ORPHA:3063 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking, Hypothyroidism |
ORPHA:3198 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Gray matter heterotopia, Polymicrogyria |
OMIM:619775 |
Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Hypertension, Target cells, Ret... |
OMIM:603903 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Lymphocytosis, Hypotension, Myeloprolifer... |
ORPHA:79456 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Cardiac arrest, Eosinophilia, Myocarditis, Thyroiditis, Weight loss, Lymphocytosis |
ORPHA:139402 |
Galloway-Mowat Syndrome |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Abnormality of neuronal migration, Hypertonia, Pachy... |
ORPHA:2065 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Hypothyroidism, Hemolyt... |
ORPHA:797 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Tachycardia |
OMIM:229700 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Prematu... |
OMIM:612347 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Crypto... |
OMIM:227650 |
3C Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormality of neuronal migration, Dandy-Wal... |
ORPHA:7 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Mend Syndrome |
|
Cryptorchidism, Abnormal auditory evoked potentials, Low-set ears, Limb hypertonia |
ORPHA:401973 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria |
ORPHA:2512 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Abnormality of neuronal migration, Gait disturbance |
ORPHA:2754 |
Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non-medullary thyro... |
ORPHA:273 |
Gm2 Gangliosidosis, Ab Variant |
|
Cherry red spot of the macula, Exaggerated startle response, Dystonia |
ORPHA:309246 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Elevated circulating parathyroid hor... |
OMIM:612089 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
Oncogenic Osteomalacia |
|
Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce... |
OMIM:619510 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Large for gestational age, Diabetes mellitus, Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Bloom Syndrome |
|
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... |
ORPHA:125 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Spastic tetraplegia, Gray matter heterotopi... |
OMIM:620024 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Periventricular heterotopia, Pachygyria, Hypoplasia of the pons, Olivopontoce... |
ORPHA:468631 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Weight loss, Iron defici... |
OMIM:301074 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Telangiec... |
OMIM:615934 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia, Spasticity |
OMIM:619694 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Fanconi-Bickel Syndrome |
|
Diabetes mellitus, Failure to thrive, Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Hyponatremia, Neutrophilia, Facial palsy, Tremor, EEG ... |
ORPHA:79139 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... |
OMIM:300908 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Streak ovary, Hypospadias, Aganglionic megacolon, Annular pancreas, Ce... |
ORPHA:798 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Lujo Hemorrhagic Fever |
|
Shock, Resting tremor, Elevated circulating C-reactive protein concentration, Myocarditis, Leukoc... |
ORPHA:319213 |
Coffin-Lowry Syndrome |
|
Abnormality of neuronal migration, Hypertonia, Gait disturbance, Progressive spasticity, Aplasia/... |
ORPHA:192 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypovolemia, Hypokalem... |
ORPHA:411634 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Hypothy... |
OMIM:618849 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive, Flexion contracture |
OMIM:618201 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Hearing impairment |
OMIM:620114 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipidus, Abnormality of the ovar... |
OMIM:209900 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Hypertriglyceridemia, Lipodystrophy, Thrombocytopenia, Splenomegaly, Flexion contrac... |
OMIM:617591 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Protruding ear, Hypoalbuminemia, Tr... |
OMIM:619534 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Pulsatile tinnitus, A... |
OMIM:115310 |
Orofaciodigital Syndrome Xvi |
|
Oculomotor apraxia, Gray matter heterotopia, Ataxia, Inability to walk |
OMIM:617563 |
Fanconi Renotubular Syndrome 2 |
|
Elevated circulating parathyroid hormone level, Hypophosphatemia |
OMIM:613388 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Developmental And Epileptic Encephalopathy 49 |
|
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy |
OMIM:617281 |
Hyperekplexia 3 |
|
Exaggerated startle response, Syncope, Hiatus hernia |
OMIM:614618 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis |
ORPHA:86843 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cerebellar vermis hypoplasia, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polym... |
ORPHA:228308 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Congenital hypothyroidism,... |
OMIM:617527 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogy... |
ORPHA:2211 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia... |
ORPHA:508542 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Hydrocephalus |
ORPHA:2655 |
Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia, Cerebellar vermis hypoplasia, Ataxia |
ORPHA:314679 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Ataxia, Abscess, Eosinophilia, Sensorineural hearing impairment, V... |
OMIM:615816 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the middle ear, Abnormality of the ovary, Abnormal fallopian tube morp... |
ORPHA:722 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... |
OMIM:300952 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Cryptorchidism, Thrombocytopenia, Type I diabetes mellitus, Lymphopenia, Anemia |
OMIM:620365 |
Macrocephaly/Autism Syndrome |
|
Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, Lymphopenia |
OMIM:605309 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Elevated circulating creatine kinase concentration, Ankle flexion contra... |
OMIM:617072 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Hereditary Fructose Intolerance |
|
Lethargy, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Alport Syndrome 3A, Autosomal Dominant |
|
Sensorineural hearing impairment, Hypertension, Hypophosphatemia, Azotemia, Hearing impairment |
OMIM:104200 |
Mirizzi Syndrome |
|
Tachycardia, Cholesterol gallstones, Hyperbilirubinemia, Cholelithiasis, Abnormal ductus choledoc... |
ORPHA:521219 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... |
OMIM:249100 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis, E... |
ORPHA:1304 |
Alg11-Cdg |
|
Ataxia, Opisthotonus, Gray matter heterotopia, Hypertonia, Limb hypertonia |
ORPHA:280071 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cellulitis, Decreased eosinophil count, Lymphopenia, Tooth ... |
ORPHA:2686 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Elevated circulating C-reactive protein concentration, Myocarditis, Thrombocytopenia, Vas... |
ORPHA:50918 |
Raine Syndrome |
|
Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinna morphology, Protruding ear, Lo... |
OMIM:259775 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Posteriorly rotated ears, Low-set ears, Pulmonic stenosis, Conductive hearing impairment, Arrhyth... |
OMIM:617877 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia |
OMIM:618056 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Left bundle branch block, Arrhy... |
OMIM:610131 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms, Chronic otitis media, Conductive hearing impairment |
OMIM:244400 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Li... |
OMIM:615219 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Hyperpepsinogenemia I, Cardiom... |
OMIM:615745 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Broad-based gait, Ataxia, External ear malformation, Dystonia |
ORPHA:438216 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... |
OMIM:616005 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:99226 |
Turner Syndrome |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:881 |
Fusariosis |
|
Brain abscess, Fasciitis, Lung abscess, Abnormal retinal morphology, Abnormality of the spleen, N... |
ORPHA:228119 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Opsismodysplasia |
|
Posteriorly rotated ears, Low-set ears, Hypophosphatemia |
OMIM:258480 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Broad-based gait, Decreased serum iron, Abnormal... |
ORPHA:438213 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... |
OMIM:243150 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Junctional ectopic tachycardia, Micropen... |
OMIM:309801 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Aplasia of the thymus, Eosinophilia, Genital ulcers, Splenomegaly, B lymphocyt... |
OMIM:602450 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactive protein conc... |
OMIM:612852 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Sensorineural hearing impairment, Enthesitis, Hypophosphatemia, Cellulitis, Toot... |
ORPHA:89936 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Arima Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Gr... |
OMIM:243910 |
Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Tricuspid regurgitation, Sensorineural hearing impairment, Corneal scarring, Pigment... |
OMIM:618460 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Diabetes mellitus, Pancreatic calcification, Elevated circulating C-reactive protei... |
ORPHA:676 |
Icf Syndrome |
|
Abnormality of neutrophils, Low-set ears, Umbilical hernia, Lymphopenia, Anemia |
ORPHA:2268 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Tachycardia, Unilateral cryptorchidism, Congenital diaphragmatic... |
OMIM:618280 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration |
ORPHA:44 |
Cardiac Diverticulum |
|
Omphalocele, Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart... |
ORPHA:1686 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Sudden cardiac death, Leukocytosis, Weight loss, Testicula... |
ORPHA:764 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Melena, Leukopenia, Lethargy, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Rod-cone dystrophy |
OMIM:260920 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hiatus hernia |
OMIM:614619 |
Radio-Tartaglia Syndrome |
|
Tremor, Gray matter heterotopia, Ataxia, Gait imbalance |
OMIM:619312 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Aplasia/Hypoplasia of the inner ear, Microtia, Anotia, Hypocalcemia, Bilateral s... |
ORPHA:2306 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Sensorineural hearing impairment, Enthesitis, Hypophosphatemic rickets, H... |
ORPHA:289176 |
Hyperekplexia 1 |
|
Umbilical hernia, Exaggerated startle response, Inguinal hernia |
OMIM:149400 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia,... |
OMIM:229600 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Failure to thrive, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Holoprosencephaly |
|
Encephalocele, Chorea, Hydrocephalus, Abnormality of neuronal migration, Spinal dysraphism, Holop... |
ORPHA:2162 |
16P13.11 Microdeletion Syndrome |
|
Holoprosencephaly, Hypertonia, Abnormality of neuronal migration |
ORPHA:261236 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Acute Radiation Syndrome |
|
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
Leukocyte Adhesion Deficiency Type Ii |
|
Neutrophilia, Small for gestational age, Ataxia, Scarring, Microcytic anemia, Leukocytosis, Impai... |
ORPHA:99843 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus |
OMIM:219730 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Legius Syndrome |
|
Acute monocytic leukemia, Paroxysmal atrial tachycardia, Ovarian neoplasm, Multiple lipomas, Vest... |
ORPHA:137605 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia, Hydrocephalus |
OMIM:187600 |
Yellow Fever |
|
Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... |
ORPHA:99829 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... |
ORPHA:980 |
Acromelic Frontonasal Dysostosis |
|
Retrocerebellar cyst, Gray matter heterotopia, Periventricular nodular heterotopia, Encephalocele |
OMIM:603671 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level |
OMIM:619767 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Gray matter heterotopia, Chiari malformation, Pachygy... |
OMIM:304050 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Hydrocephalus |
ORPHA:1860 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Hypokalemia, Decreased circulating c... |
ORPHA:3337 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... |
ORPHA:99889 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Thrombocytopenia, Leukopenia, Increased mean corpuscular volume, Budd-Ch... |
OMIM:127550 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Failure to thrive, Severe B lymphocytopenia, Aplasia of the thymus, A... |
OMIM:102700 |
Plague |
|
Tachycardia, Hematemesis, Splenomegaly, Unsteady gait, Hypotension, Arrhythmia, Hearing impairment |
ORPHA:707 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Lipoma, Chondrocalcinosis, Hypocalcemic s... |
ORPHA:405 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Scalp-Ear-Nipple Syndrome |
|
Posteriorly rotated ears, Underdeveloped antitragus, Anteverted ears, Congestive heart failure, C... |
OMIM:181270 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Transient ischemic attack, Eosinophilia, Supraventricular arrhythmia, Pulmonary emb... |
ORPHA:3260 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Co... |
ORPHA:391487 |
Pneumocystosis |
|
Abnormal neutrophil count, Weight loss |
ORPHA:723 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia... |
OMIM:620005 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia, Difficulty walking |
ORPHA:531151 |
Whim Syndrome |
|
Cellulitis, Abnormal neutrophil morphology, Limb ataxia, Neutropenia, Cervix cancer, Lymphopenia,... |
ORPHA:51636 |
Syndromic Diarrhea |
|
Aortic regurgitation, Inguinal hernia, Small for gestational age, Increased mean platelet volume,... |
ORPHA:84064 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia, Dandy-Walker malformation |
OMIM:605039 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
OMIM:600802 |
Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Van Maldergem Syndrome 1 |
|
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... |
OMIM:601390 |
Marshall-Smith Syndrome |
|
Omphalocele, Optic nerve hypoplasia, Bilateral cryptorchidism, Cryptorchidism, Premature ventricu... |
OMIM:602535 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cerebellar ... |
OMIM:311200 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia, Spasticity |
OMIM:618797 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Macrotia, Hypoalbuminemia |
OMIM:614748 |
Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Sensorineural hearing im... |
OMIM:163950 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... |
OMIM:214800 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
Reynolds Syndrome |
|
Calcinosis, Gastrointestinal hemorrhage, Raynaud phenomenon, Splenomegaly, Lip telangiectasia, Pa... |
OMIM:613471 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polymicrogyria, Abnormality of neuronal migration |
OMIM:608836 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Hypoplasia of the thymus, Abnormal heart valve physiology, Pul... |
ORPHA:3384 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Periventricular heterotopia, Simplified gy... |
OMIM:615948 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Inability to walk, Gray matter heterotopia |
ORPHA:26791 |
Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria, Progressive spastic paraplegia |
OMIM:247200 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Unsteady gait, Gray matter heterotopia, Loss of ambulation, Frequent falls, Polymicrogyria |
OMIM:214100 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, Lymphopenia, Aganglionic megacolon, Anemia |
ORPHA:935 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Spasticity, Hydrocephalus |
OMIM:305450 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Inability to ... |
OMIM:620066 |
Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia |
OMIM:615546 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Hydrocep... |
OMIM:210710 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:3186 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Posteriorly rotated ears, Hypospadias, Cryptorchidism, Hydrocele te... |
OMIM:619522 |
Pagod Syndrome |
|
Encephalocele, Meningocele, Abnormality of neuronal migration, Spina bifida |
ORPHA:991 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Broad-based gait |
OMIM:618918 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, EEG with generalized slow activity |
OMIM:618367 |
Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Severe hydrocephalus, Dandy-Wal... |
OMIM:236680 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia, Impaired pain sensation |
ORPHA:453499 |
Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, Periventricular heterotopia, Hydrocephalus, Gray matter heterotopia... |
OMIM:612289 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Gait disturbance, Abnormality of neuronal migration |
ORPHA:464311 |
Koolen-De Vries Syndrome |
|
Gray matter heterotopia |
OMIM:610443 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Inability to walk, Gray matter heterotopia, Impaired pain sensation |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Inability to walk, Gray matter heterotopia, Impaired pain sensation |
ORPHA:352665 |
Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... |
ORPHA:99125 |
Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration |
ORPHA:647 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia |
OMIM:276300 |
Proteus Syndrome |
|
Gray matter heterotopia |
ORPHA:744 |