Cerebellar Degeneration-Related Autoantigen 3 |
|
Abnormal cerebellum morphology |
OMIM:602197 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
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 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
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 1 |
|
Female infertility |
OMIM:615774 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance |
ORPHA:98766 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... |
OMIM:617018 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait |
OMIM:605388 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions |
OMIM:618830 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Spasticity, Pachygy... |
OMIM:300067 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia |
ORPHA:211017 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy |
ORPHA:458798 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca... |
OMIM:615268 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pons morphology, Progres... |
ORPHA:171622 |
Dystonia 23 |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dys... |
OMIM:614860 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor |
OMIM:601238 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady... |
ORPHA:101010 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... |
ORPHA:94122 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Cerebellar agenesis |
ORPHA:1397 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia |
OMIM:611031 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
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 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 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... |
OMIM:619565 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
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 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Ankle clonus, Diffi... |
OMIM:611252 |
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 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Babinski sign, Impaired distal vibrat... |
OMIM:619742 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia |
OMIM:611694 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
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 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy |
OMIM:615957 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, D... |
ORPHA:401820 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
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 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... |
OMIM:602629 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Lissencephaly 4 |
|
Short stature, Babinski sign, Simplified gyral pattern, Feeding difficulties, Growth delay, Colpo... |
OMIM:614019 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... |
ORPHA:98810 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Sub-Cortical Nodular Heterotopia |
|
Subcortical heterotopia, Abnormality of neuronal migration, Spasticity, Polymicrogyria, Agenesis ... |
ORPHA:101029 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... |
ORPHA:423275 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus |
ORPHA:36899 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Lissencephaly 3 |
|
Ataxia, Periventricular laminar heterotopia, Pachygyria, Spastic tetraplegia, Gray matter heterot... |
OMIM:611603 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Spastic dysarthr... |
ORPHA:401830 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... |
OMIM:607317 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor |
OMIM:608029 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetri... |
OMIM:611302 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... |
OMIM:302500 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... |
ORPHA:276193 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign |
ORPHA:85292 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... |
OMIM:613728 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements,... |
OMIM:616981 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Normal pressure hydrocephalus, Kinetic tremor |
OMIM:611808 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ... |
OMIM:117360 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Myoclonus |
OMIM:600143 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Autosomal Spastic Paraplegia Type 72 |
|
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles |
ORPHA:401849 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Dystonia 15, Myoclonic |
|
Dystonia, Writer's cramp, Myoclonus |
OMIM:607488 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia |
OMIM:615705 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, ... |
ORPHA:453521 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia |
OMIM:614322 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... |
OMIM:213200 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... |
OMIM:604213 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,... |
OMIM:618090 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... |
OMIM:616127 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... |
OMIM:610357 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... |
OMIM:128100 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Spastic tetraplegia, Gray matter heterotopia, Lissencephaly, Intrau... |
OMIM:615411 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... |
OMIM:610185 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Parkinsonism, Abnormal cerebellum morphology, Abnormality of extrapyramidal motor functio... |
OMIM:162350 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia... |
ORPHA:521406 |
Pontocerebellar Hypoplasia, Type 1E |
|
Cerebellar atrophy, Cerebellar hypoplasia, Hypoplasia of the pons, Myoclonus |
OMIM:619303 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait |
OMIM:618387 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy |
OMIM:617643 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Impaired vi... |
OMIM:607565 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... |
OMIM:220200 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... |
OMIM:614831 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ata... |
OMIM:616230 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... |
ORPHA:157941 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... |
OMIM:607346 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign |
OMIM:617770 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot... |
OMIM:615362 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, ... |
OMIM:300423 |
X-Linked Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive... |
ORPHA:1175 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... |
OMIM:618093 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... |
OMIM:600223 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... |
ORPHA:71517 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... |
OMIM:605259 |
Creutzfeldt-Jakob Disease |
|
Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Hemiparesis, Myocl... |
OMIM:123400 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... |
OMIM:619028 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor |
OMIM:617863 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation |
OMIM:617916 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella... |
ORPHA:98756 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di... |
ORPHA:98764 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... |
ORPHA:512260 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia |
ORPHA:210571 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Babinski ... |
OMIM:617225 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... |
ORPHA:397946 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia, Intrauterine growth retardation |
OMIM:620270 |
Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity |
OMIM:616494 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar hypo... |
OMIM:224050 |
Epilepsy, Familial Adult Myoclonic, 7 |
|
Myoclonic tremor |
OMIM:618075 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Short stature, Inability to walk, Spastic paraplegia, Optic atrophy, Periventricular nodular hete... |
OMIM:618572 |
Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Lo... |
OMIM:256731 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Focal dystonia, Gait ataxia, Progressive cerebellar ataxia, Impair... |
OMIM:605361 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... |
OMIM:616204 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia |
OMIM:613721 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Fasc... |
ORPHA:95434 |
Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokine... |
OMIM:248900 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Inability to walk, Dysplastic corpus callosum, Spastic tetraplegia, Dystonia, Spa... |
ORPHA:599373 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... |
OMIM:617633 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... |
OMIM:616719 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:352403 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, Dystonia, S... |
OMIM:615889 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Involuntary movements |
OMIM:616939 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Urocanase Deficiency |
|
Broad-based gait, Short stature, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Band Heterotopia |
|
Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatation, Spasticity, ... |
OMIM:600348 |
Glutathionuria |
|
Tremor, Gray matter heterotopia, Dysdiadochokinesis, Constipation, Agenesis of corpus callosum, A... |
OMIM:231950 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Hereditary Geniospasm |
|
Chin myoclonus, Intention tremor |
ORPHA:53372 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
Facial Onset Sensory And Motor Neuronopathy |
|
Fasciculations |
ORPHA:85162 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Distal sensory impairment |
OMIM:615048 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia |
ORPHA:401835 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dy... |
ORPHA:352596 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Dys... |
OMIM:618088 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Ba... |
OMIM:609270 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Combined Saposin Deficiency |
|
Babinski sign, Myoclonus, Fasciculations, Hyperkinetic movements |
OMIM:611721 |
Lissencephaly 1 |
|
Spastic tetraparesis, Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachy... |
OMIM:607432 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... |
ORPHA:139485 |
Paroxysmal Kinesigenic Dyskinesia |
|
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia |
ORPHA:98809 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Myoclonus |
OMIM:102300 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Pontocerebellar Hypoplasia, Type 2D |
|
Cerebellar atrophy, Appendicular spasticity, Clonus, Chorea, Spastic tetraplegia, Cerebellar verm... |
OMIM:613811 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... |
OMIM:600224 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia |
OMIM:617836 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,... |
ORPHA:1170 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Writer's cramp, Involuntary movements, Rig... |
ORPHA:98759 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... |
OMIM:617810 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... |
ORPHA:101109 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Feeding difficulties, Gray matter heterotopia, Spasticity, Pachygyria, Agyria |
ORPHA:1084 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Lateral ventricle dilatation, Difficulty walking... |
ORPHA:306669 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Hand tremor |
ORPHA:86814 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr... |
OMIM:210000 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Hand tremor, Myoclonus |
OMIM:608105 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Gait ataxia, Titubation, Head tremor |
ORPHA:98771 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... |
OMIM:600363 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Dystonia, S... |
OMIM:617493 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy |
OMIM:618501 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Failure to thrive, Tetraparesis, Periventricular heterotopia |
OMIM:608097 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... |
OMIM:618598 |
Optic Atrophy 5 |
|
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:610708 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... |
ORPHA:251282 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dysto... |
OMIM:617284 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Small for gestational age, Tremor, Growth delay, Spasticity |
OMIM:278780 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... |
OMIM:500003 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Ataxia, Babinski sign, Choreoathetosis, Limb dystonia, Fre... |
OMIM:619054 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia |
OMIM:143100 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar a... |
ORPHA:248111 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Limb dystonia, Torticollis, Head titubation, Abnormal pyramidal sign, Limb at... |
OMIM:617560 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a... |
OMIM:610246 |
Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Cerebellar h... |
OMIM:225753 |
Developmental And Epileptic Encephalopathy 69 |
|
Spastic tetraplegia, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:618285 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myo... |
ORPHA:420492 |
Epilepsy, Progressive Myoclonic, 9 |
|
Gait ataxia, Myoclonus, Action myoclonus, Frequent falls, Agenesis of corpus callosum |
OMIM:616540 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... |
ORPHA:251347 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Torticollis, Impaired vibratory sensation, Impaired te... |
OMIM:619686 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Spastic tetraplegia, Cerebellar hypoplasia, Myoclonus, Erratic myoclonus |
OMIM:619971 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Lower limb spasticity, Cerebellar ve... |
ORPHA:98 |
Autosomal Recessive Primary Microcephaly |
|
Short stature, Growth delay, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum |
ORPHA:2512 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria... |
OMIM:607136 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Babinski sign, Spastic p... |
OMIM:614409 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal cerebellar verm... |
ORPHA:33445 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Rabies |
|
Nausea and vomiting, Cerebral palsy, Anorexia, Diarrhea, Paresthesia, Vocal cord paresis |
ORPHA:770 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Hypertonia, Lisse... |
ORPHA:1083 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Short stature, Periventricular heterotopia, Partial agenesis of the corpus cal... |
OMIM:616171 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor |
OMIM:620221 |
Gordon Holmes Syndrome |
|
Cerebellar atrophy, Chorea, Ataxia |
OMIM:212840 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebellar atrophy, Oculogyric crisis, Chorea, Hyperkinetic movements, Myoclonus, Dystonia, Spast... |
OMIM:614254 |
Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... |
ORPHA:216873 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s... |
ORPHA:93952 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... |
ORPHA:254343 |
Spastic Paraplegia 70, Autosomal Recessive |
|
Ankle clonus, Spasticity, Fasciculations |
OMIM:620323 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, Dysmetria... |
ORPHA:276198 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... |
ORPHA:276435 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... |
OMIM:215470 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, H... |
OMIM:617435 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia |
OMIM:612020 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor... |
ORPHA:79263 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Oromotor apraxia, Hemiparesis, Gray matter heterotopia, Lateral ventr... |
ORPHA:300573 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins... |
OMIM:615157 |
Spinocerebellar Ataxia 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,... |
OMIM:183090 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia |
ORPHA:330050 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hypoplasia of the pons, Hand tremor, Limb ataxia, Hypoplasia of the ventral pons, Lateral... |
OMIM:607596 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Later... |
ORPHA:363654 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... |
OMIM:612438 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykinesia, Gait ... |
ORPHA:225147 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Cerebellar atrophy, Spastic ataxia, Impaired distal proprioception, Tremor, Abnormal cerebellum m... |
ORPHA:137898 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, D... |
OMIM:302800 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S... |
OMIM:614487 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Failure to thrive, Spastic tetraparesis, Pachygyria, Simplified gyral pattern, Abnormality of neu... |
OMIM:604317 |
Symmetrical Thalamic Calcifications |
|
Ataxia, Abnormality of neuronal migration, Hypertonia, Spasticity, Failure to thrive |
ORPHA:1314 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Peroxisome Biogenesis Disorder 8B |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Clonus, Rigidity, Dysesthesia, Babinski sign, ... |
OMIM:614877 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Distal ... |
OMIM:607250 |
Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... |
OMIM:183086 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
Spastic Ataxia 3, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,... |
OMIM:611390 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb a... |
OMIM:208920 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Dilated fourth ventricle, Broad-based gait, Head titubation, Gait ataxia, Cerebellar hypoplasia, ... |
OMIM:620208 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Cerebell... |
ORPHA:313772 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Kimura Disease |
|
Eosinophilia, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ... |
ORPHA:284289 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... |
OMIM:618369 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,... |
OMIM:615491 |
Pontocerebellar Hypoplasia Type 4 |
|
Hypertonia, Myoclonus, Olivopontocerebellar hypoplasia |
ORPHA:166063 |
Joubert Syndrome 25 |
|
Oculomotor apraxia, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia |
ORPHA:324588 |
Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Cerebellar vermis hypoplasia, Myoclonus |
OMIM:610992 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Ataxia, Choreoathetosis, Myoclonus, Frequent falls |
OMIM:301020 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Tip-toe gait, Gait disturbance... |
ORPHA:216866 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Alexander Disease |
|
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Abnormal dentate nucleus morphology,... |
OMIM:203450 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Gait ataxia |
ORPHA:139480 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia,... |
ORPHA:13 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Ataxia, Babinski sign, Impaired vibration sensation in the lower limbs, Unste... |
OMIM:159550 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Failure to thrive, Ataxia |
OMIM:618951 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:618261 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxi... |
OMIM:603516 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Spasticity, Dystonia |
OMIM:304700 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia |
OMIM:613909 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... |
ORPHA:370022 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Progressive Myoclonic Epilepsy Type 3 |
|
Cerebellar atrophy, Progressive truncal ataxia, Progressive cerebellar ataxia, Chin myoclonus, My... |
ORPHA:263516 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... |
OMIM:618060 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Cerebellar atrophy, Inability to walk, Ataxia, Gait ataxia |
OMIM:617915 |
Lactose Intolerance, Adult Type |
|
Flatulence, Diarrhea, Abdominal pain |
OMIM:223100 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Familial Paroxysmal Ataxia |
|
Torticollis, Ataxia, Dystonia, Hemiplegia, Cerebellar vermis atrophy |
ORPHA:97 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity |
ORPHA:101075 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations |
OMIM:271200 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py... |
ORPHA:101070 |
Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Dystonia, Spa... |
OMIM:615528 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady ... |
ORPHA:228360 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia |
OMIM:616398 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Classic Galactosemia |
|
Speech apraxia, Male infertility, Incoordination, Ataxia, Postural tremor, Dystonia, Premature ov... |
ORPHA:79239 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Choreoathetosis, Hyperkinetic movements, Dystonia, Athetoid cerebr... |
OMIM:618218 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Pachygyria, Partial agenesis of the corpus callosum, Simplified gyra... |
OMIM:616212 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Cerebellar vermis hypoplasia, Truncal titubation, Abnormal pyramidal sign, Gait ataxia, Poor fine... |
OMIM:618800 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ... |
OMIM:614153 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Feeding difficult... |
ORPHA:89844 |
Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea, Lissencephaly, Spasticity, Pachygyria, Agenesis of cor... |
OMIM:300215 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk |
OMIM:619561 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Optic nerve hypoplasia, Dysplastic corpus callosum, Abnormal pyramidal sign, Lisse... |
OMIM:614833 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... |
OMIM:603552 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Progressive language deterioration, Impaired soc... |
ORPHA:168782 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Co... |
OMIM:607454 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ... |
OMIM:607694 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Tremor, Dysplastic corpus callosum, Hypoesthesia... |
OMIM:619737 |
Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... |
OMIM:617013 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Short stature, Ataxia |
ORPHA:1368 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... |
OMIM:137440 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc... |
ORPHA:529665 |
Sandhoff Disease, Juvenile Form |
|
Incoordination, Ataxia, Diarrhea, Abnormal pyramidal sign, Dysphagia, Gait disturbance, Fascicula... |
ORPHA:309162 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation |
OMIM:614018 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Distal sensory i... |
OMIM:609260 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
4H Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnor... |
ORPHA:289494 |
Parkinson Disease 22, Autosomal Dominant |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:616710 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormality of neuronal migration |
OMIM:618709 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Inability to walk... |
ORPHA:101077 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Eyelid myoclonus |
OMIM:618357 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Tremor, Decreased nerve conduction velocity, Gait disturbance |
ORPHA:101078 |
Hsd10 Disease |
|
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait dist... |
ORPHA:391417 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal... |
OMIM:300623 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Rigidity, Tremor, Bradykinesia, Spastic par... |
OMIM:300894 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Di... |
OMIM:616505 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Spasticity, Ataxia, Myoclonus |
OMIM:545000 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice, Reticulocytosis |
OMIM:179700 |
Spinocerebellar Ataxia Type 8 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste... |
ORPHA:98760 |
Maternal Hyperthermia-Induced Birth Defects |
|
Intrauterine growth retardation, Hypertonia, Short stature, Abnormality of neuronal migration |
ORPHA:2216 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity, Dense calcificat... |
ORPHA:542310 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Spinocerebellar Ataxia Type 10 |
|
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Babinski sign, Unsteady gait, Dysmetri... |
ORPHA:98761 |
Subependymal Nodular Heterotopia |
|
Partial agenesis of the corpus callosum, Abnormality of neuronal migration, Gray matter heterotop... |
ORPHA:101030 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp... |
ORPHA:240094 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Ataxia, Myoclonus, Dystonia |
OMIM:617829 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Frequent falls |
OMIM:615217 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... |
ORPHA:250972 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Myoclonus, Dysmetria |
OMIM:619191 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor |
OMIM:606438 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy |
OMIM:618982 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Spinocerebellar Ataxia 27A |
|
Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno... |
OMIM:193003 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Dystonia |
OMIM:619065 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Hyperkinetic movements, Ataxia |
OMIM:271980 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Microcephaly, Amish Type |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Myo... |
OMIM:607196 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... |
OMIM:612840 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements |
ORPHA:397933 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Letharg... |
OMIM:312170 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Myoclonus |
OMIM:204500 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Periventricular heterotopia, Decreased body weight, Intrauterine growth retardation, Pach... |
ORPHA:255138 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Clumsiness, Ga... |
ORPHA:98768 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Developmental And Epileptic Encephalopathy 16 |
|
Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dystonia |
OMIM:615338 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok... |
OMIM:614381 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Mepan Syndrome |
|
Cerebellar atrophy, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Myoclonus, Limb dysto... |
ORPHA:508093 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Eyelid myoclonu... |
ORPHA:2590 |
Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Myoclonus, Spasticity, Dystonia |
OMIM:616139 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... |
OMIM:261640 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:204300 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Broad-based gait, Hydrocephalus, Spastic tetraparesis |
OMIM:619470 |
Secretory Component Deficiency |
|
Intermittent diarrhea |
OMIM:269650 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Palatal tremor |
ORPHA:363717 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... |
ORPHA:64753 |
Developmental And Epileptic Encephalopathy 40 |
|
Choreoathetosis, Spasticity, Myoclonus, Spastic tetraparesis |
OMIM:617065 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Inability to walk, Waddling gait |
OMIM:616269 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Distal sensory impairment, Spasticity, Inte... |
OMIM:612674 |
Optic Atrophy 8 |
|
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... |
OMIM:616648 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... |
ORPHA:99014 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:618497 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Fasciculations |
OMIM:615575 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus |
OMIM:619780 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athetosis, Abno... |
ORPHA:280219 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Abnormal cerebellum morphology, Abnormality of extrapyramidal motor function, Parkinsonism, Myocl... |
OMIM:204200 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Hirschsprung Disease |
|
Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Short stature, Failure to thr... |
ORPHA:388 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... |
ORPHA:90117 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased sensory nerve c... |
ORPHA:206594 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly |
OMIM:614480 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxia,... |
OMIM:615960 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, Chorea, Slu... |
ORPHA:98755 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Dilated fourth ventricle, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasc... |
OMIM:109150 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Brunner Syndrome |
|
Diarrhea, Kinetic tremor |
OMIM:300615 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressive spastic paraplegia |
ORPHA:306511 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity |
OMIM:176500 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia |
OMIM:613313 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... |
ORPHA:247815 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B... |
ORPHA:458803 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Frontal upsweep of hair, Ataxia, Spasticity |
OMIM:300983 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... |
ORPHA:247234 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... |
OMIM:277460 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Hypertonia, Limb tremor, Myoclonus |
OMIM:300699 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Growth delay, Bra... |
ORPHA:70594 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... |
ORPHA:3095 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig... |
ORPHA:225154 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility |
OMIM:614324 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Head titubation, Tremor, Rigidity, Inability to walk, Gait ataxia, Choreo... |
OMIM:618877 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Abnormality of neuronal migration |
ORPHA:1980 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Positive Romberg sign... |
OMIM:614575 |
Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Tetraplegia, D... |
OMIM:616267 |
Leukodystrophy, Hypomyelinating, 5 |
|
Truncal titubation, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, Loss ... |
OMIM:610532 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Amyotrophic Lateral Sclerosis 18 |
|
Spasticity, Fasciculations |
OMIM:614808 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Abnormal cerebellum morphology, Limb myoclonus, Abnormality of extrapyramidal motor function, Gai... |
ORPHA:356 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Jaundice, Hepatomegaly |
ORPHA:79238 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Short stature, Periventricular heterotopia, Inability to walk, Unsteady gait, Simplified gyral pa... |
OMIM:618273 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign,... |
OMIM:606002 |
Gillespie Syndrome |
|
Cerebellar atrophy, Ataxia, Postural tremor, Slurred speech, Cerebellar hypoplasia |
OMIM:206700 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Head titubation, Tremor, Inabilit... |
OMIM:312080 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive |
ORPHA:477673 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... |
ORPHA:504476 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins... |
OMIM:614298 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Hyperkinetic movements, Spa... |
OMIM:300957 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Feeding difficulties, Gait ataxia, Weight loss, Vomiting, Failure to thrive |
OMIM:612075 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Chiari Malformation Type Ii |
|
Ataxia, Opisthotonus, Feeding difficulties, Gray matter heterotopia, Dysphagia, Agenesis of corpu... |
OMIM:207950 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... |
ORPHA:54251 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Dysdiadochokinesis, Hypertonia, Myoclonus, ... |
OMIM:618356 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Hypergonadotropic hypogonadism, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:619317 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Foxg1 Syndrome |
|
Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, Spasticity, Agenesis of corpus call... |
ORPHA:561854 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... |
OMIM:603472 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia |
OMIM:619556 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Generalized dystonia, Parkinsonism, Spastic tetraparesis, Partial agenesis of the corpus callosum... |
OMIM:619653 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Truncal titubation, Abnormal cerebellum morphol... |
OMIM:618056 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Short stature, Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Te... |
OMIM:616586 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Athetosis, Rigidity, Myoclonus |
OMIM:618241 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Fasciculations |
OMIM:619141 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Dystonia, Hyperkinetic movements, Clumsiness |
ORPHA:725 |
Peho-Like Syndrome |
|
Cerebellar atrophy, Myoclonus |
OMIM:617507 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Pain insensitivity, Constipation, Abnormal autonomic nervous system physiology, Diarrhea |
OMIM:615548 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Short stature, Parkinsonism, Tremor, Obe... |
ORPHA:3077 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Dystonia |
OMIM:619911 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... |
OMIM:615234 |
Trehalase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:103909 |
Galactosemia Iii |
|
Splenomegaly, Jaundice, Hepatomegaly |
OMIM:230350 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis, Dystonia |
OMIM:612126 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Growth delay, ... |
OMIM:266600 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Fasciculations |
OMIM:606595 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center |
OMIM:608184 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Difficulty walking... |
OMIM:159950 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia, Agenesis of corpus callosum |
OMIM:250620 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks |
OMIM:254770 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Fasciculations |
OMIM:608030 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Vomiting |
OMIM:606528 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Choreoathetosis, Cerebellar hypoplasia, Dystonia |
OMIM:619422 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Hyperkinetic movements, Upper limb spasticity, Cerebellar dysplasia |
ORPHA:457240 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unst... |
ORPHA:442835 |
Malonyl-Coa Decarboxylase Deficiency |
|
Short stature, Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting, Pachygyria |
OMIM:248360 |
Neuroferritinopathy |
|
Resting tremor, Dystonia, Parkinsonism, Writer's cramp, Involuntary movements, Chorea, Babinski s... |
ORPHA:157846 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Pontocere... |
OMIM:617854 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Hypogonadism, Myoclonus, Abnormal auto... |
ORPHA:97229 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
OMIM:620010 |
Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Tremor, Dystonia, Loss of ambulation, Intrauterine growth retardation |
OMIM:615010 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ... |
ORPHA:93958 |
Folate Malabsorption, Hereditary |
|
Ataxia, Feeding difficulties in infancy, Diarrhea, Athetosis, Failure to thrive |
OMIM:229050 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Gait ataxia, Hyperkineti... |
OMIM:620089 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus |
OMIM:254800 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Hemimegalencephaly |
|
Optic atrophy, Hemiparesis, Gray matter heterotopia, Myoclonus, Pachygyria, Polymicrogyria, Abnor... |
ORPHA:99802 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Spasticity, Babinski sign, Abnormal pyramidal sign, Fasciculations |
OMIM:602099 |
Alexander Disease Type Ii |
|
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Spastic parap... |
ORPHA:363722 |
Cystathioninuria |
|
Tremor |
ORPHA:212 |
Isaacs Syndrome |
|
Fasciculations |
ORPHA:84142 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Cog7-Cdg |
|
Small for gestational age, Postnatal growth retardation, Diarrhea, Feeding difficulties, Failure ... |
ORPHA:79333 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased ... |
ORPHA:206443 |
Glycine Encephalopathy 1 |
|
Agenesis of corpus callosum, Myoclonus |
OMIM:605899 |
Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements |
ORPHA:209970 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:616531 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Fasciculations |
OMIM:613435 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:610370 |
Myoclonus, Intractable, Neonatal |
|
Athetosis, Chorea, Myoclonus, Dandy-Walker malformation |
OMIM:617235 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Steppage gait, Gait... |
OMIM:118300 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Desmosterolosis |
|
Failure to thrive, Severe short stature, Abnormal cortical gyration, Pachygyria, Rigidity, Abnorm... |
ORPHA:35107 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Cerebellar hypoplasi... |
ORPHA:280210 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia |
ORPHA:858 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Pachygyria, Gray matter heterotopia, Facial diplegia, Tip-toe gait, Difficulty walking, Frequent ... |
ORPHA:370980 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Gait disturbance, Tremor |
ORPHA:1192 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Cirrhosis |
OMIM:602390 |
Coproporphyria, Hereditary |
|
Abdominal pain, Diarrhea, Constipation, Respiratory paralysis, Vomiting |
OMIM:121300 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... |
OMIM:617282 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Fasciculations |
OMIM:137200 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Truncal titubation, Rigidity, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesis, Inabil... |
OMIM:607483 |
Chylomicron Retention Disease |
|
Impaired vibratory sensation, Diarrhea, Malnutrition, Growth delay, Vomiting, Steatorrhea, Failur... |
OMIM:246700 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atrophy, Progressiv... |
ORPHA:95433 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Short stature, Ataxia, Tremor, Premature graying of hair, Gait disturba... |
ORPHA:100 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... |
ORPHA:79301 |
Episodic Ataxia, Type 5 |
|
Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia |
OMIM:613855 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Short stature, Thick hair, Tremor, Inability to walk, Dysmetria, Limb ataxia, Growth dela... |
OMIM:617675 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrapyramidal motor ... |
OMIM:615673 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Tremor, Inability to walk, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Dysmetria, Clumsiness, Ankle cl... |
ORPHA:88644 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal... |
ORPHA:276241 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Spastic tetraplegia, Growth delay, Hemiplegia, Polymicrogyria |
OMIM:614483 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Congenital Disorder Of Glycosylation, Type In |
|
Spasticity, Ataxia, Myoclonus |
OMIM:612015 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Growth delay, Choreoathetosis, Gait dist... |
ORPHA:765 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Short stature, Facial palsy, Babinski sign, Abnormality of neuronal migration, Pachygyria |
OMIM:608840 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... |
ORPHA:459056 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Ascites, Lymphadenopathy |
ORPHA:26790 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Incoordination, Ataxia, Babinski sign, Abnormal pyramidal sign, Clumsiness, Gait ataxia, Hyperton... |
OMIM:616688 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dyston... |
OMIM:617710 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:614265 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Cerebral palsy, Short stature, Ataxia, Periventricular heterotopia, Optic atrophy, Colpocephaly, ... |
OMIM:619833 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Splenomegaly, Ascites, Anemia |
ORPHA:1046 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Saccharopinuria |
|
Short stature, Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia |
ORPHA:3124 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Fasciculations, ... |
OMIM:620327 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypertonia, Myoclonus |
OMIM:610090 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
ORPHA:172 |
Amyotrophic Lateral Sclerosis 1 |
|
Pseudobulbar paralysis, Fasciculations, Spasticity |
OMIM:105400 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:164180 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia |
ORPHA:397596 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Cereb... |
OMIM:613153 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Distal sensory impairment |
OMIM:607734 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:609981 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor |
ORPHA:79234 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Vici Syndrome |
|
Short stature, Feeding difficulties in infancy, Optic atrophy, Feeding difficulties, Gray matter ... |
ORPHA:1493 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cerebellar cyst |
OMIM:615181 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, My... |
ORPHA:79279 |
Developmental And Epileptic Encephalopathy 72 |
|
Hyperkinetic movements |
OMIM:618374 |
Thyrocerebrorenal Syndrome |
|
Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Small intestinal dysmotility, Poor appetite, Abdominal... |
ORPHA:298 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Spasticity, Ataxia, Myoclonus, Dystonia |
OMIM:620094 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... |
OMIM:619151 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Tremor, Inability to walk, Decreased nerve conduction ... |
OMIM:218000 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... |
ORPHA:507 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Morning myoclonic jerks, Episodic ataxia, Myoclonus, Truncal ataxia |
OMIM:607682 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
3-Hydroxyisobutyric Aciduria |
|
Failure to thrive, Abnormality of neuronal migration |
OMIM:236795 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Spasticity, Myoclonus |
OMIM:618201 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Hypoplasia of the pons, Cerebellar hypoplasia, Myoclonus, Dystonia, Agen... |
OMIM:617669 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Lower limb spasticity, Babinski sign, Ankle clonus, Fasciculations, Tetraparesis, Spasticity |
OMIM:613954 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Myoclonus |
OMIM:609056 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... |
ORPHA:1215 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis |
OMIM:619868 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:50251 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Dys... |
OMIM:607822 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... |
ORPHA:275872 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Spasticity, Ataxia, Myoclonus |
OMIM:256730 |
Developmental And Epileptic Encephalopathy 23 |
|
Hypoplasia of the pons, Myoclonus |
OMIM:615859 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Spinocerebellar Ataxia 1 |
|
Dilated fourth ventricle, Chorea, Babinski sign, Dysmetria, Limb ataxia, Spinocerebellar atrophy,... |
OMIM:164400 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Ataxia, Tremor, Diarrhea, Gait disturbance |
ORPHA:29822 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Neurogenic bladder, Short stature, Ataxia, Postnatal growth retarda... |
ORPHA:96180 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:603909 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Optic atrophy, Type II lissencephaly, Dysgyria |
ORPHA:352682 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination |
ORPHA:86909 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B... |
ORPHA:52368 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Tetraplegia, Fasciculations, Hand tremor |
OMIM:604484 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Babinski sign, Spastic diplegia, Spastic dysarthria, Hypertonia, Myoclonus, Progressive s... |
ORPHA:401866 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Diarrhea, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive... |
OMIM:105210 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Bradykinesia, Blepharosp... |
ORPHA:240071 |
Chromosome 19P13.13 Deletion Syndrome |
|
Optic nerve hypoplasia, Abdominal pain, Diarrhea, Optic atrophy, Feeding difficulties, Constipati... |
OMIM:613638 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... |
OMIM:614034 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... |
OMIM:616828 |
Solitary Rectal Ulcer Syndrome |
|
Abdominal pain, Tenesmus, Hematochezia, Chronic constipation, Episodic abdominal pain, Bloody dia... |
ORPHA:209964 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Lissencephaly 5 |
|
Subcortical band heterotopia, Optic atrophy, Spastic paraplegia, Gray matter heterotopia, Type II... |
OMIM:615191 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... |
ORPHA:824 |
Attrv30M Amyloidosis |
|
Diarrhea, Constipation, Abnormal autonomic nervous system physiology, Weight loss |
ORPHA:85447 |
Crome Syndrome |
|
Cerebellar dysplasia |
OMIM:218900 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Myoclonus, Dysmetria |
OMIM:618251 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Anorexia, Diarrhea, Optic atrophy, Paresthesia |
ORPHA:49827 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... |
OMIM:613280 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myoclo... |
OMIM:616271 |
Microtriplication 11Q24.1 |
|
Retrocerebellar cyst, Hyperkinetic movements, Speech apraxia |
ORPHA:289522 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Poor appetite, Reye syndrome-like episodes, Diarrhea, Paraplegia, Feeding difficulties, V... |
ORPHA:927 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:444002 |
Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Failure to thrive, Ataxia, Feeding difficulties, Gray matter heterotopia, Peri... |
OMIM:617201 |
Diarrhea 9 |
|
Diarrhea, Failure to thrive |
OMIM:618168 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Clonus, Optic nerve hypoplasia, Abnormal pyramidal sign, Optic atrophy, Gray matter heterotopia, ... |
ORPHA:370959 |
Aceruloplasminemia |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, C... |
ORPHA:48818 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa... |
ORPHA:363400 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus |
OMIM:619092 |
Thyrocerebroretinal Syndrome |
|
Slurred speech, Ataxia, Myoclonus |
OMIM:274240 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, Impaired vibratio... |
ORPHA:447753 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Failure to thrive, Vomiting, Diarrhea |
OMIM:615863 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Spastic paraparesis, Palatal tremor, Truncal ataxia |
OMIM:113610 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cerebellar dysplasia |
OMIM:250951 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... |
OMIM:311510 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Abnormal pyramidal sign, Spastic tetraplegia, Spastic diplegia, Gray matter heterotopia, Dysphagi... |
OMIM:617008 |
Machado-Joseph Disease Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal... |
ORPHA:276244 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:613155 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Short stature, Tremor, Growth delay, Intrauterine growth retardation, Failure to thrive |
OMIM:617744 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination |
ORPHA:36387 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
Immunodeficiency, Common Variable, 11 |
|
Mucoid diarrhea, Growth delay, Inflammation of the large intestine, Crohn's disease, Failure to t... |
OMIM:615767 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:3197 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Dystonia, Chorea, Opisthotonus, Myoclonus, Cerebellar hypoplasia, Tetraparesis |
OMIM:616672 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebellar vermis hypoplasia, Spastic tetraparesis, Lateral ventricle dilatation, Hypertonia, Myo... |
ORPHA:284417 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cho... |
OMIM:617988 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly |
ORPHA:75234 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
Amyotrophic Lateral Sclerosis 8 |
|
Postural tremor, Abnormal pyramidal sign, Fasciculations |
OMIM:608627 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... |
OMIM:168605 |
Amyotrophy, Monomelic |
|
Fasciculations |
OMIM:602440 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Pachygyria, Optic atrophy, Abnormality of neuronal migration, Macrogy... |
ORPHA:899 |
Hyperekplexia 4 |
|
Hypertonia, Myoclonus |
OMIM:618011 |
Developmental And Epileptic Encephalopathy 54 |
|
Myoclonus |
OMIM:617391 |
Juvenile Absence Epilepsy |
|
Myoclonus |
ORPHA:1941 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Cerebellar atrophy, Myoclonus |
OMIM:619060 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Early Myoclonic Encephalopathy |
|
Myoclonus |
ORPHA:1935 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad... |
OMIM:618935 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Optic Atrophy 11 |
|
Ataxia, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements, Cerebellar hypoplasia |
OMIM:617302 |
Sneddon Syndrome |
|
Tremor, Chorea, Hemiparesis |
ORPHA:820 |
Pontocerebellar Hypoplasia, Type 1D |
|
Cerebellar atrophy, Spasticity, Tongue fasciculations, Fasciculations |
OMIM:618065 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... |
ORPHA:204 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... |
ORPHA:2494 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Babinski sign, Myoclonus, Apraxia |
OMIM:618193 |
Leukoencephalopathy With Ataxia |
|
Action tremor, Limb ataxia, Gait ataxia |
OMIM:615651 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... |
ORPHA:3392 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Ethylmalonic Encephalopathy |
|
Ataxia, Diarrhea, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Failure ... |
ORPHA:51188 |
Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Limb myoclonus |
ORPHA:352582 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... |
ORPHA:352731 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis |
OMIM:300635 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation, Facial palsy |
OMIM:601419 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Lissencephaly, Ag... |
OMIM:615219 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Opisthotonus, Lateral ventricle dilat... |
OMIM:619847 |
Trichohepatoenteric Syndrome 2 |
|
Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis, Intrauterine gro... |
OMIM:614602 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Hypertonia, Cerebellar hypoplasia, Myoclo... |
ORPHA:3078 |
Galloway-Mowat Syndrome 10 |
|
Cerebellar atrophy, Myoclonus |
OMIM:619609 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Ocu... |
ORPHA:220497 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Lower limb spasticity, Babinski sign, Fasciculations |
OMIM:615290 |
Radio-Tartaglia Syndrome |
|
Ataxia, Tremor, Obesity, Gray matter heterotopia, Gastroesophageal reflux, Gait imbalance, Consti... |
OMIM:619312 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Adult Intestinal Botulism |
|
Diarrhea, Cerebral palsy, Diaphragmatic paralysis |
ORPHA:178487 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... |
OMIM:257200 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... |
ORPHA:276 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Malnutrition, Protracted diarrhea |
OMIM:251850 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Vocal cord paralysis, Myoclonus,... |
ORPHA:500144 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
16P13.11 Microdeletion Syndrome |
|
Short stature, Abnormality of neuronal migration, Feeding difficulties, Hypertonia, Gastroesophag... |
ORPHA:261236 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Hypoplasia of the pons, Hydrocephalus, Spastic paraplegia, Opisthotonus, Choreoathetosis,... |
OMIM:614969 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... |
ORPHA:572798 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Subcortical heterotopia, Agyria, Optic nerve hypoplasia, Partial agenesis of the corpus callosum,... |
OMIM:614643 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Babinski sign, Myoclonus, Dystonia |
OMIM:600795 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Rigidity, Myoclonus |
OMIM:619057 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy... |
ORPHA:98850 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Babinski sign, Truncal ataxia, Myoclonus, Dystonia, Spasticity |
OMIM:252011 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Multifocal Motor Neuropathy |
|
Fasciculations |
ORPHA:641 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:604218 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Abnormality of the tonsils, Hepatomegaly |
ORPHA:93476 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Fasciculations |
OMIM:600882 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive |
ORPHA:178029 |
Typhoid |
|
Gastrointestinal hemorrhage, Ataxia, Abdominal pain, Tremor, Diarrhea, Hypertonia, Constipation |
ORPHA:99745 |
Neutral Lipid Storage Disease With Myopathy |
|
Fasciculations |
OMIM:610717 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:3162 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Speech apraxia, Abdominal pain, Encopresis, Diarrhea, Obesity, Poor fine motor coordination, Gast... |
ORPHA:589821 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, C... |
OMIM:615356 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition... |
ORPHA:95427 |
Diarrhea 13 |
|
Failure to thrive, Secretory diarrhea, Vomiting |
OMIM:620357 |
Roifman Syndrome |
|
Eosinophilia, Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Bradykinesia, Poor fi... |
ORPHA:399 |
Lennox-Gastaut Syndrome |
|
Myoclonus |
ORPHA:2382 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Ataxia, Hypogonadotropic hypogonadism, Postnatal growth retardation, Abnormal pyramidal... |
ORPHA:453533 |
Bile Acid Malabsorption, Primary, 1 |
|
Growth delay, Failure to thrive, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Cog4-Cdg |
|
Fatal liver failure in infancy, Ataxia, Failure to thrive in infancy, Feeding difficulties, Growt... |
ORPHA:263501 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Cerebellar vermis hypoplasia, Facial-lingual fasciculations, Dyspla... |
OMIM:617281 |
Developmental And Epileptic Encephalopathy 109 |
|
Spasticity, Myoclonus, Gait ataxia |
OMIM:620145 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Chronic diarrhea |
OMIM:614102 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hypertonia, Hyperkinetic movements |
OMIM:236270 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Failure to thrive, Ataxia, Chronic diarrhea, Feeding difficulties, Hepatic failure, Recurrent inf... |
OMIM:613489 |
Congenital Disorder Of Deglycosylation 2 |
|
Partial agenesis of the corpus callosum, Gray matter heterotopia, Hypothalamic hamartoma, Dysphag... |
OMIM:619775 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... |
ORPHA:320401 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Abdominal pain, Hypoesthesia, Gastrointes... |
OMIM:603041 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, Feeding difficulties, Periventricular heterotopia |
OMIM:614105 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Dystonia... |
ORPHA:171695 |
Cerebrofacioarticular Syndrome |
|
Ataxia, Short stature, Feeding difficulties in infancy, Dysplastic corpus callosum, Gray matter h... |
ORPHA:314679 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy |
ORPHA:69077 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:168600 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea |
ORPHA:103907 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Lateral ventricle dilatation, Myoclonus, Apraxia, Spasticity |
OMIM:221770 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior |
ORPHA:1020 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Somatic sensory dysfunction, Fasciculations |
ORPHA:99965 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity |
OMIM:616840 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to ... |
ORPHA:845 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Myelopathy, Cervical myelopathy, Tetrapa... |
OMIM:617186 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Olivopontocerebellar atrophy |
OMIM:146500 |
Alg8-Cdg |
|
Ataxia, Small for gestational age, Diarrhea, Optic atrophy, Feeding difficulties, Vomiting, Intra... |
ORPHA:79325 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Failure to thrive, Small for gestational age |
OMIM:613217 |
Encephalopathy, Ethylmalonic |
|
Ataxia, Chronic diarrhea, Babinski sign, Feeding difficulties, Abnormality of extrapyramidal moto... |
OMIM:602473 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intent... |
OMIM:254900 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Diarrhea, Abdominal pain |
OMIM:222900 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Ataxia, Fasciculations, Dystonia, Spasticity, Progressive spastic paraplegia |
ORPHA:464282 |
Leber Congenital Amaurosis |
|
Hemiplegia/hemiparesis, Abnormal optic disc morphology, Abnormality of neuronal migration |
ORPHA:65 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertoni... |
ORPHA:445038 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... |
ORPHA:1333 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Hyperkinetic movements, Truncal ataxia |
ORPHA:369847 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly |
OMIM:231000 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H... |
ORPHA:158057 |
Xeroderma Pigmentosum, Complementation Group F |
|
Tremor, Short stature, Ataxia, Decreased body weight |
OMIM:278760 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... |
ORPHA:64743 |
Nipah Virus Disease |
|
Tremor, Myoclonus |
ORPHA:99825 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Fasciculations |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Fasciculations |
OMIM:616437 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Abdominal mass, Pelvic mass, Transverse vaginal septum, Uterus di... |
ORPHA:65681 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... |
OMIM:266200 |
Amish Nemaline Myopathy |
|
Tremor |
ORPHA:98902 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Intrauterine growth retardation, Dysmetria |
OMIM:615578 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Short stature, Thick hair, Tremor, Dysmetria, Primary amenorrhea, Gr... |
ORPHA:502423 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Abeta Amyloidosis, Iowa Type |
|
Myoclonus |
ORPHA:324708 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Periventricular heterotopia, Rigidity, Optic atrophy, Spastic tetraplegia, Difficulty wal... |
OMIM:618476 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Cirrhosis, ... |
OMIM:235200 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
Pontocerebellar Hypoplasia, Type 2E |
|
Cerebellar atrophy, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, Spasticity |
OMIM:615851 |
Roifman Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy |
OMIM:616651 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Cog8-Cdg |
|
Cerebellar atrophy, Ataxia, Myoclonus |
ORPHA:95428 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... |
ORPHA:169154 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... |
ORPHA:39041 |
Schindler Disease, Type I |
|
Spasticity, Myoclonus |
OMIM:609241 |
Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Generalized dystonia, Oromandibular dystonia, Myoclonus |
ORPHA:412217 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... |
OMIM:168601 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... |
ORPHA:33069 |
6Q Terminal Deletion Syndrome |
|
Failure to thrive, Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Gai... |
ORPHA:75857 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Ocu... |
ORPHA:220493 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... |
OMIM:608643 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Ataxia, Postnatal growth retardation, Dystonia, Dec... |
OMIM:616113 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Ataxia, Myoclonus |
OMIM:618225 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
Caribbean Parkinsonism |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P... |
ORPHA:97355 |
Congenital Disorder Of Glycosylation, Type Id |
|
Spastic tetraparesis, Diarrhea, Optic atrophy, Hypertonia, Vomiting, Failure to thrive |
OMIM:601110 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria |
OMIM:617397 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor |
OMIM:619790 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progr... |
ORPHA:466722 |
Brody Disease |
|
Fasciculations |
OMIM:601003 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly |
OMIM:306000 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Fasciculations |
ORPHA:206546 |
Kallmann Syndrome |
|
Decreased testicular size, Dyspareunia, Ataxia, Hypogonadotropic hypogonadism, Tremor, Cryptorchi... |
ORPHA:478 |
Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Hyperkinetic movement... |
ORPHA:391428 |
Rapadilino Syndrome |
|
Diarrhea, Short stature, Feeding difficulties |
OMIM:266280 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... |
ORPHA:158061 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Opisthotonus, Gait ataxia, Myoclonus, Hemiplegia, Spasticity |
OMIM:103050 |
Orofaciodigital Syndrome Type 6 |
|
Short stature, Ataxia, Tremor, Feeding difficulties in infancy, Abnormality of neuronal migration... |
ORPHA:2754 |
Celiac Disease, Susceptibility To, 1 |
|
Short stature, Ataxia, Abdominal pain, Postnatal growth retardation, Abdominal distention, Diarrh... |
OMIM:212750 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Melas |
|
Abnormal central motor function, Ataxia, Short stature, Intestinal pseudo-obstruction, Gastrointe... |
ORPHA:550 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Failure to thrive |
OMIM:613501 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Hyperkinetic movements, Ataxia, Truncal ataxia |
OMIM:300243 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea, Failure to thrive |
OMIM:228600 |
Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Loss of ambulation, Right hemiplegia |
OMIM:607426 |
Foodborne Botulism |
|
Nausea and vomiting, Cerebral palsy, Abdominal pain, Paralysis, Diarrhea, Diaphragmatic paralysis... |
ORPHA:228371 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Disproportionate short-limb short stature, Abnormality of neuronal migration, Intrauterine growth... |
ORPHA:2772 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... |
OMIM:619644 |
Hyperprolinemia Type 2 |
|
Abdominal pain, Dysesthesia, Diarrhea, Unsteady gait, Distal sensory impairment, Feeding difficul... |
ORPHA:79101 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature, Ataxia, Tremor, Hypogonadism, Lethargy, Alopecia of scalp, Decreased testicular size |
OMIM:201100 |
Tetrasomy 18P |
|
Achalasia, Gait disturbance, Abnormality of neuronal migration |
ORPHA:3307 |
Reticular Dysgenesis |
|
Diarrhea, Failure to thrive, Weight loss |
ORPHA:33355 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Bloody diarrhea, Feeding difficulties |
OMIM:615119 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Hypertonia, Myoclonus |
OMIM:617290 |
Young-Onset Parkinson Disease |
|
Female sexual dysfunction, Tremor, Rigidity, Bradykinesia, Male sexual dysfunction, Gait imbalanc... |
ORPHA:2828 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Short stature, Optic atrophy, Abnormality of neuronal migration, Hypertonia, Intrauterine growth ... |
ORPHA:2518 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Intention tremor, Spasticity, Ataxia, Cerebral amyloid angiopathy |
OMIM:117300 |
Lactase Deficiency, Congenital |
|
Diarrhea |
OMIM:223000 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... |
ORPHA:79456 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Short stature, Abnormality of neuronal migration |
ORPHA:44 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Babinski sign, Fasciculations |
OMIM:619733 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Pachygyria, Abnormality of neuronal migration, Episodic abdominal pain, Hepatic failure, Polymicr... |
ORPHA:157 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Rhizomelia, Diarrhea, Weight loss, Severe short-limb dwarfism, Failure to th... |
ORPHA:1842 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Ataxia, Abdominal pain, Diarrhea, Peritoniti... |
ORPHA:343 |
Sialidosis Type 1 |
|
Short stature, Ataxia, Tremor, Decreased nerve conduction velocity, Slurred speech, Gait disturba... |
ORPHA:812 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea |
OMIM:110100 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections |
OMIM:601457 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnor... |
ORPHA:2131 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepato... |
ORPHA:85450 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Peho Syndrome |
|
Cerebellar atrophy, Myoclonus |
OMIM:260565 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:620296 |
Leigh Syndrome |
|
Cerebellar atrophy, Dystonia, Ataxia, Involuntary movements, Chorea, Upper motor neuron dysfuncti... |
ORPHA:506 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Cachexia, Diarrhea, Vomiting, Decreased liver function |
ORPHA:42 |
Benign Samaritan Congenital Myopathy |
|
Fasciculations |
ORPHA:324581 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Splenomegaly, Micronodular cirrhosis, Thrombocy... |
OMIM:606003 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Short stature, Diarrhea, Gastroesophageal reflux, Decreased body weight, Nasogastric tube feeding |
OMIM:607906 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy... |
ORPHA:2686 |
Alg11-Cdg |
|
Ataxia, Opisthotonus, Feeding difficulties, Gray matter heterotopia, Hypertonia, Failure to thriv... |
ORPHA:280071 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Diarrhea, Vomiting, Myoclonus, Failure to thrive |
OMIM:560000 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Cryptorchidism, Leukocytosis, Acute leukemia, Ly... |
ORPHA:99812 |
Dracunculiasis |
|
Nausea and vomiting, Diarrhea |
ORPHA:231 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Fasciculations |
OMIM:614436 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetr... |
OMIM:618527 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Chorea, Progressive cerebellar ataxia, Upper limb spasticity, Myoclonus |
ORPHA:485350 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... |
OMIM:615237 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Ataxia-Telangiectasia |
|
Dystonia, Short stature, Ataxia, Female hypogonadism, Abnormal hair morphology, Inability to walk... |
OMIM:208900 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Head tremor, Spasticity |
ORPHA:314404 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Failure to thrive, Vomiting, Nasogastric tube feeding |
ORPHA:289504 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Impaired vibratory sensation, Pain insensitivity, Impaired temperature sensation, Impaired pain s... |
OMIM:608654 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Clonus, Involuntary movements, Opisthotonus, Colpocephaly, Myoclonus, Ag... |
OMIM:620352 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Cerebral palsy, Ataxia, Abnormality of neuronal migration, Obesity, Feedin... |
ORPHA:163681 |
Botulism |
|
Nausea and vomiting, Cerebral palsy, Abdominal pain, Diarrhea, Diaphragmatic paralysis, Xerostomi... |
ORPHA:1267 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Paraparesis, Oromotor apraxia, Perisylvian predominant thick cortex pachyg... |
ORPHA:98889 |
Sandifer Syndrome |
|
Abnormal posturing, Torticollis |
ORPHA:71272 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutr... |
ORPHA:47612 |
Joubert Syndrome |
|
Ataxia, Aganglionic megacolon, Tremor, Feeding difficulties in infancy, Abnormality of neuronal m... |
ORPHA:475 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Myoclonus |
ORPHA:411986 |
Boutonneuse Fever |
|
Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy |
ORPHA:83313 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Impaired proprioception, Growth delay, Vomiting, Steatorrhea, Fai... |
ORPHA:71 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Dystonia |
ORPHA:683 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy |
ORPHA:33276 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia |
OMIM:612164 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614618 |
Isolated Agammaglobulinemia |
|
Diarrhea, Failure to thrive, Short stature |
ORPHA:229717 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing |
OMIM:614857 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Hypertonia, Abnormality of neuronal migration |
ORPHA:1895 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Abnormality of visual evoked potentials, Optic disc pallor, Decreased motor nerve conduction velo... |
OMIM:601152 |
Leukodystrophy, Hypomyelinating, 10 |
|
Spasticity, Babinski sign, Hyperkinetic movements |
OMIM:616420 |
Neuroendocrine Tumor Of The Rectum |
|
Bowel urgency, Abdominal pain, Anorexia, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Bowel urgency, Abdominal pain, Anorexia, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro... |
ORPHA:100082 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Abdominal pain, Diarrhea, Horner syndrome, Weight loss, Myoclonus, Failure to thrive |
OMIM:256700 |
Immunodeficiency 19 |
|
Failure to thrive, Chronic diarrhea |
OMIM:615617 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... |
OMIM:618048 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls |
OMIM:149400 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B... |
ORPHA:829 |
Enterokinase Deficiency |
|
Diarrhea, Failure to thrive |
OMIM:226200 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Splenomegaly, Thrombocy... |
OMIM:278000 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly |
OMIM:235555 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Vomiting, Abdominal pain |
OMIM:620137 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hypertonia, Myoclonus |
OMIM:618240 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity |
OMIM:616640 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas... |
ORPHA:1655 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Ataxia, Tremor, Inability to walk, Overweight, Obesity, Lateral ventricle ... |
OMIM:619229 |
Porphyria, Acute Intermittent |
|
Paralysis, Abdominal pain, Diarrhea, Paralytic ileus, Vomiting, Respiratory paralysis, Paresthesi... |
OMIM:176000 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Feeding difficulties in infancy, Diarrhea, Abnormality of neuronal migration, Vomiting, Polymicro... |
OMIM:608836 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Weight loss |
ORPHA:103910 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Difficulty walking, Episodic vomiti... |
ORPHA:100924 |
9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Gray matter heterotopia, Gastrointestinal dysmotility, Difficulty w... |
ORPHA:531151 |
Alexander Disease |
|
Ataxia, Clonus, Facial palsy, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Gait disturba... |
ORPHA:58 |
Developmental And Epileptic Encephalopathy 89 |
|
Cerebellar atrophy, Hypertonia, Hyperkinetic movements, Tetraparesis, Dystonia, Spasticity |
OMIM:619124 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Athetosis, Spasticity, Hyperkinetic movements, Dystonia |
OMIM:612073 |
Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Abdominal distention, Diarrhea, Vomiting, Decreased liver function, Intrauterine growth retardati... |
OMIM:608104 |
Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Myoclonus, Dystonia |
ORPHA:163921 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance |
ORPHA:83629 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618929 |
Dpm1-Cdg |
|
Ataxia, Diarrhea, Optic atrophy, Spasticity, Failure to thrive, Gastrostomy tube feeding in infancy |
ORPHA:79322 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia, Decreased nerve conduction velocity, Unsteady gait, Agenesis of corp... |
OMIM:618733 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Ataxia, Tremor, Optic atrophy, Growth delay, Testicular atrophy |
OMIM:222300 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Abdominal pain, Cachexia, Diarrhea, Xerostomia, Hematochezia, Paresthesia, Vomiting |
OMIM:175500 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Broad-based gait, Short stature, Optic nerve hypoplasia, Chronic diarrhea, Gait ataxia, Intrauter... |
OMIM:300953 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Autoinflammation With Infantile Enterocolitis |
|
Short stature, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, Failure to thr... |
OMIM:616050 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Secretory diarrhea, Vomiting |
OMIM:616069 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Tremor, Decreased nerve conduction velocity, Facial diplegia, Fasciculations, Diffi... |
ORPHA:329478 |
Eosinophilic Gastroenteritis |
|
Abdominal pain, Diarrhea, Steatorrhea, Weight loss, Hematochezia, Vomiting, Dysphagia |
ORPHA:2070 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea |
OMIM:618662 |
Behavioral Variant Of Frontotemporal Dementia |
|
Abnormality of extrapyramidal motor function, Fasciculations, Upper motor neuron dysfunction |
ORPHA:275864 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa... |
ORPHA:35710 |
Early-Onset Lafora Body Disease |
|
Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Bohring-Opitz Syndrome |
|
Short stature, Mesomelic/rhizomelic limb shortening, Feeding difficulties, Gray matter heterotopi... |
OMIM:605039 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Optic disc pallor, Chronic diarrhea |
OMIM:619446 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Failure to thrive, Chronic diarrhea |
OMIM:606824 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p... |
OMIM:304790 |
Fabry Disease |
|
Nausea, Abdominal pain, Diarrhea, Tenesmus, Vomiting, Abnormal autonomic nervous system physiolog... |
OMIM:301500 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Lymphadenopathy |
ORPHA:1332 |
Mevalonic Aciduria |
|
Optic disc pallor, Short stature, Ataxia, Failure to thrive in infancy, Diarrhea, Progressive cer... |
OMIM:610377 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Autoinflammatory-Pancytopenia Syndrome |
|
Growth delay, Failure to thrive, Chronic diarrhea, Intestinal inflammation |
OMIM:619858 |
Castleman Disease |
|
Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,... |
ORPHA:160 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Decreased liver function, Failure to thrive |
ORPHA:79319 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Pachygyria, Abnormality of neuronal migration, Feeding difficulties, Hepatic failure, Polymicrogy... |
ORPHA:228308 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... |
OMIM:607765 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Vomiting |
OMIM:264350 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting |
OMIM:619445 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... |
OMIM:603903 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Severe short stature, Optic nerve hypoplasia, Periventricular heterotopia, Pac... |
ORPHA:468631 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Spasticity, Myoclonus, Tetraparesis |
OMIM:618972 |
Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Absent brainstem auditory responses, Ataxia, Postnatal growth retardation,... |
ORPHA:90321 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Unilateral Polymicrogyria |
|
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... |
ORPHA:268943 |
Snakebite Envenomation |
|
Paralysis, Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Vomi... |
ORPHA:449285 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... |
ORPHA:79431 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Ataxia, Postnatal growth retardation, Tremor, Abnormal pyramidal sign, Fine hair, ... |
OMIM:612199 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Developmental And Epileptic Encephalopathy 101 |
|
Myoclonus, Opisthotonus |
OMIM:619814 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Tremor, Cryptorchidism, Lateral ventricle dilatation, Tip-toe gait, Dystonia, Intr... |
OMIM:617557 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Diarrhea, Spastic tetraplegia, Growth delay... |
ORPHA:3240 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Chronic diarrhea, Feeding difficulties, Chronic constipation, Failure to thrive, Poor suck |
OMIM:617788 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Rigidity, Myoclonus |
OMIM:300673 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Lymph node hypoplasia, T lymphocyt... |
OMIM:300755 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Cerebellar atrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability ... |
ORPHA:466768 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cholestatic liver diseas... |
ORPHA:540 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia, Spasticity |
OMIM:619694 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c... |
OMIM:616005 |
D-Glyceric Aciduria |
|
Chorea, Myoclonus, Spasticity |
ORPHA:941 |
Sarcoidosis, Susceptibility To, 2 |
|
Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly |
OMIM:612387 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Periventricular heterotopia, Feeding difficulties, Colpocephaly, Dysphagia |
ORPHA:261250 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hepatosple... |
OMIM:603553 |
Wild Type Attr Amyloidosis |
|
Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, Abnormal autonom... |
ORPHA:330001 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Immunodeficiency 46 |
|
Failure to thrive, Chronic diarrhea |
OMIM:616740 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Glutaric Aciduria Iii |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:231690 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Abnormal autonomic nervous system physiology, Constipation |
OMIM:133020 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls |
OMIM:184850 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia, Anemia |
OMIM:617591 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Ataxia, Diarrhea, Babinski sign, Abnormal pyramidal sign, Ankle clonus, Pseudo... |
OMIM:213700 |
3C Syndrome |
|
Short stature, Postnatal growth retardation, Feeding difficulties in infancy, Optic atrophy, Abno... |
ORPHA:7 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Myopathy, Myofibrillar, 2 |
|
Fasciculations |
OMIM:608810 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Ataxia, Small for gestational age, Tremor, Growth delay, Neonatal death, Intrauterine growth reta... |
OMIM:614052 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Myoclonus |
ORPHA:289266 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Chronic diarrhea, Failure to thrive in infancy |
OMIM:618805 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... |
OMIM:267700 |
Immunodeficiency 15B |
|
Failure to thrive, Chronic diarrhea |
OMIM:615592 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Myoclonus, Spasticity, Cortical myoclonus |
ORPHA:168491 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Incoordination, Short stature, Ataxia, Tremor, Unsteady gait, Abnormal pyramid... |
OMIM:614947 |
Galactosemia I |
|
Diarrhea, Failure to thrive, Vomiting, Decreased liver function |
OMIM:230400 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Generalized dystonia, Ataxia, Clonus, Babinski sign, Opisthotonus, Limb hypertonia, Cerebellar hy... |
OMIM:618076 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Vocal cord paralysis,... |
ORPHA:99956 |
Immunodeficiency 57 With Autoinflammation |
|
Diarrhea, Failure to thrive, Gastritis, Inflammation of the large intestine |
OMIM:618108 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Growth delay, Diarrhea |
OMIM:614069 |
Acalvaria |
|
Abnormality of neuronal migration |
ORPHA:945 |
Cronkhite-Canada Syndrome |
|
Cachexia, Diarrhea, Anorexia, Abdominal pain |
ORPHA:2930 |
Legionnaires Disease |
|
Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan... |
ORPHA:549 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Chronic diarrhea, Lateral ventricle dilatation, Unsteady gait, Ataxia |
ORPHA:457279 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea,... |
ORPHA:25 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... |
OMIM:214500 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Fasciculations |
ORPHA:1143 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Chronic diarrhea, Optic atrophy, Growth delay, Inflammation of the la... |
OMIM:614576 |
Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Epididymitis, Va... |
ORPHA:2035 |
Galloway-Mowat Syndrome |
|
Short stature, Hemiplegia/hemiparesis, Abnormality of neuronal migration, Hypertonia, Intrauterin... |
ORPHA:2065 |
Adiposis Dolorosa |
|
Diarrhea, Xerostomia, Obesity, Constipation, Paresthesia |
ORPHA:36397 |
Neuroendocrine Tumor Of The Colon |
|
Bowel urgency, Abdominal pain, Anorexia, Lack of bowel sounds, Bloody diarrhea, Protracted diarrh... |
ORPHA:100080 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Diarrhea, Nausea, Poor appetite, Dysphagia |
ORPHA:352447 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Incoordination, Feeding difficulties in infancy, Diarrhea, Growth delay,... |
OMIM:223900 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Inhalational Botulism |
|
Nausea and vomiting, Paralysis, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Esophagitis |
OMIM:619079 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestasis, Lymphadenopathy, Hepatic fi... |
OMIM:615895 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Cardiomegaly, Retroperitoneal fibrosis, Splenomegal... |
OMIM:602782 |
Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Abdominal pain |
ORPHA:54057 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormality of visual evoked potentials, Optic disc pallor, Decreased nerve conduction velocity, ... |
ORPHA:485421 |
Carnitine Deficiency, Systemic Primary |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:212140 |
Orofaciodigital Syndrome Type 3 |
|
Cerebellar vermis hypoplasia, Myoclonus, Oculomotor apraxia, Spasticity, Dandy-Walker malformation |
ORPHA:2752 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Weakness due to upper motor neuron dysfunction, Facial... |
ORPHA:79139 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
Congenital Myopathy 20 |
|
Chronic diarrhea, Failure to thrive, Frequent falls |
OMIM:620310 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Failure to thrive, Vomiting, Feeding difficulties |
OMIM:177735 |
Serotonin Syndrome |
|
Clonus, Tremor, Rigidity, Diarrhea, Hypertonia, Myoclonus, Abnormality of the autonomic nervous s... |
ORPHA:43116 |
Thanatophoric Dysplasia Type 2 |
|
Short stature, Abnormality of neuronal migration |
ORPHA:93274 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss |
ORPHA:65682 |
Aicardi Syndrome |
|
Postnatal growth retardation, Partial agenesis of the corpus callosum, Optic disc coloboma, Optic... |
OMIM:304050 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Increased T cell count, Absent peripheral lymph nodes in presence of infection, Increased B cell ... |
ORPHA:98813 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis |
OMIM:618641 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Chorea, Diarrhea, Spastic tetraplegia, Gait ataxia, Vomiting, Myoclonus, Episodic vomiting |
OMIM:618321 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Ascites, Lymphadenopathy |
ORPHA:36412 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Frequent falls, Fasciculations, Clumsiness |
ORPHA:521411 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Protracted diarrh... |
ORPHA:67 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Chronic diarrhea, Gait ataxia |
OMIM:616355 |
Methionine Malabsorption Syndrome |
|
Diarrhea |
OMIM:250900 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Pain insensitivity, Broad-based gait, Short stature, Ataxia, Failure to th... |
OMIM:256810 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Cerebellar vermis hypoplasia, Babinski sign, Retrocerebellar cyst, Myoclonus, Spasticity |
ORPHA:364028 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
Erythroderma Desquamativum |
|
Diarrhea, Failure to thrive |
ORPHA:314 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Ataxia, Tetraplegia, Fasciculations, Progressive spasticity, Dystonia, Catapl... |
ORPHA:496641 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Tremor, Diarrhea, Hyperkinetic movements, Intrauterine growth retardation, F... |
ORPHA:525731 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Ataxia, Anorexia, Abdominal pain, Cachexia, Diarrhea, Abnormal pyram... |
ORPHA:3452 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Cerebral palsy, Myoclonus |
OMIM:617600 |
Congenital Tufting Enteropathy |
|
Abdominal distention, Chronic diarrhea, Optic disc coloboma, Secretory diarrhea, Weight loss, Vom... |
ORPHA:92050 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko... |
ORPHA:809 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Bowel urgency, Poor appetite, Anorexia, Hematemesis, Lack of bowel sounds, B... |
ORPHA:100075 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Disproportionate short-limb short stature, Intrauterine growth retardation |
ORPHA:2655 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Failure to thrive secondary to recurrent infections, Diarrhea, Anorexia, Protracted diarrhea |
ORPHA:169160 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Feeding difficulties in infancy, Periventricular heterotopia |
OMIM:618974 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Poor coordination, Diffuse cerebellar atrophy, Myoclonic spasms |
ORPHA:478029 |
Vici Syndrome |
|
Abnormal posturing, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:242840 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Hydroc... |
ORPHA:1454 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Tremor, Diarrhea, Increased body weight, Vomiting |
ORPHA:263455 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Failure to thrive, Short stature, Small for gestational age, Spastic tetr... |
OMIM:620024 |
Coffin-Lowry Syndrome |
|
Short stature, Feeding difficulties in infancy, Optic atrophy, Abnormality of neuronal migration,... |
ORPHA:192 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Diarrhea, Steatorrhea, Vomiting, Hepatic failure, Failure to thrive |
OMIM:602579 |
Satoyoshi Syndrome |
|
Diarrhea, Short stature |
OMIM:600705 |
Enteric Anendocrinosis |
|
Diarrhea, Vomiting |
ORPHA:83620 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Anorexia, Diarrhea, Weight loss, Vomiting, Extrapyramidal dyskinesia, Spasticity |
ORPHA:134 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic nonin... |
ORPHA:97289 |
Methanol Poisoning |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:31825 |
Yao Syndrome |
|
Diarrhea, Weight loss, Xerostomia, Abdominal pain |
OMIM:617321 |
Necrotizing Enterocolitis |
|
Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Hyperlysinemia |
|
Neck hypertonia, Short stature, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di... |
ORPHA:2203 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:379 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Vocal cord paralysis, Hyperkinetic movements, ... |
OMIM:617799 |
Pancreatic Colipase Deficiency |
|
Growth delay, Exocrine pancreatic insufficiency, Chronic diarrhea, Steatorrhea |
ORPHA:309108 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia |
ORPHA:90033 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Chronic diarrhea, Colonic eosinophilia, Ulcerative colitis |
OMIM:617638 |
Familial Hypoaldosteronism |
|
Nausea and vomiting, Orthostatic hypotension, Diarrhea, Feeding difficulties, Growth delay, Failu... |
ORPHA:427 |
Sandhoff Disease |
|
Exaggerated startle response, Orthostatic hypotension, Ataxia, Impaired temperature sensation, Ch... |
OMIM:268800 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... |
OMIM:619418 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypertonia, Myoclonus |
ORPHA:79096 |
B4Galt1-Cdg |
|
Diarrhea, Small for gestational age |
ORPHA:79332 |
Complement Component 4B Deficiency |
|
Chronic diarrhea |
OMIM:614379 |
Immunodeficiency 9 |
|
Chronic diarrhea, Recurrent aphthous stomatitis, Difficulty walking, Stomatitis, Failure to thrive |
OMIM:612782 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia |
ORPHA:520 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Diarrhea, Protracted diarrhea, Gait ataxia, Failure to thrive, Recurrent infection of the gastroi... |
ORPHA:572 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy |
OMIM:617099 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Chronic diarrhea |
OMIM:300400 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Spasticity, Ataxia, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:614299 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function, Myoclonus, Faci... |
OMIM:605711 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Short stature, Diarrhea, Feeding difficulties, Tip-toe gait, Constipation, Intermittent diarrhea,... |
OMIM:618050 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Fasciculations |
ORPHA:682 |
Familial Glucocorticoid Deficiency |
|
Anorexia, Diarrhea, Tetraplegia, Episodic abdominal pain, Weight loss, Constipation, Vomiting, Fa... |
ORPHA:361 |
Opitz-Kaveggia Syndrome |
|
Short stature, Partial agenesis of the corpus callosum, Gray matter heterotopia, Constipation, Sp... |
OMIM:305450 |
Postpoliomyelitis Syndrome |
|
Fasciculations |
ORPHA:2942 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... |
OMIM:231550 |
H Syndrome |
|
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Azoospermia, Hypogonadism, Micropenis, De... |
ORPHA:168569 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Chronic diarrhea, Facial palsy, Nausea |
OMIM:615084 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis |
OMIM:142680 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Diarrhea, Failure to thrive, Short stature |
OMIM:242860 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea |
OMIM:612692 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia |
ORPHA:713 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Chronic diarrhea, Growth delay, Vomiting, Tube feeding |
OMIM:619510 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Encephalocele, Partial absence of cerebellar vermis, Hydrocephalus, Cerebel... |
OMIM:613150 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Upper mo... |
ORPHA:646 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... |
ORPHA:1572 |
Man1B1-Cdg |
|
Resting tremor, Broad-based gait, Truncal obesity, Periventricular heterotopia |
ORPHA:397941 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, Vomiting, Dysphagia... |
ORPHA:319218 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gastroparesis, Optic nerve hypoplasia, Intestinal pseudo-obstruction, Impaired pain sensation, Fe... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gastroparesis, Optic nerve hypoplasia, Intestinal pseudo-obstruction, Impaired pain sensation, Fe... |
ORPHA:352665 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Tremor, Feeding difficulties in infancy, Diarrhea, Dysmetria, Vomiting, Steatorrhea, Fail... |
OMIM:212065 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy |
OMIM:616028 |
Brain-Lung-Thyroid Syndrome |
|
Dystonia, Ataxia, Incoordination, Involuntary movements, Chorea, Clumsiness, Choreoathetosis, Myo... |
ORPHA:209905 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Feeding difficulties in infancy, Overweight, Chronic diarrhea, Chronic constipatio... |
ORPHA:500055 |
Pyruvate Carboxylase Deficiency |
|
Ataxia, Tremor, Abnormal pyramidal sign, Growth delay, Tip-toe gait, Dystonia, Failure to thrive,... |
ORPHA:3008 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Proportionate short stature, Feeding difficulties in infancy, Diarrhea, Vo... |
ORPHA:71212 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Myoclonus, Abnormal cerebellar cortex morphology, Gait ataxia |
ORPHA:70595 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Chorea, Athetosis, Hyperkinetic movements, Myoclonus, Dystonia, Oculomotor ap... |
ORPHA:404454 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Tip-toe gait, Gait disturban... |
ORPHA:512 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Opisthoton... |
ORPHA:2671 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
Transcobalamin Ii Deficiency |
|
Diarrhea, Failure to thrive, Ataxia, Vomiting |
OMIM:275350 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Anorexia, Diarrhea, Gastroesophageal reflux, Failure to thrive |
ORPHA:90045 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Short stature, Postnatal growth retardation, Diarrhea, Increased body weight, Vomiting, Nausea |
ORPHA:79240 |
Autosomal Agammaglobulinemia |
|
Diarrhea, Failure to thrive |
ORPHA:33110 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Growth delay, Constipation, Vomiting, Chronic hep... |
ORPHA:469 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Myoclonus |
OMIM:616158 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Blue Diaper Syndrome |
|
Diarrhea, Increased body weight |
ORPHA:94086 |
Tick-Borne Encephalitis |
|
Speech apraxia, Abnormal medulla oblongata morphology, Incoordination, Paralysis, Tremor, Hyperki... |
ORPHA:297 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen... |
ORPHA:50918 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea |
OMIM:277175 |
Neuraminidase Deficiency |
|
Slurred speech, Myoclonus, Dysmetria |
OMIM:256550 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Growth delay, Vomiting |
OMIM:226300 |
Specific Granule Deficiency 2 |
|
Intractable diarrhea, Failure to thrive |
OMIM:617475 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Myoclonus, Spasticity |
ORPHA:309155 |
Biotinidase Deficiency |
|
Ataxia, Feeding difficulties in infancy, Diarrhea, Optic atrophy, Vomiting |
OMIM:253260 |
Orofaciodigital Syndrome Xvi |
|
Oculomotor apraxia, Gray matter heterotopia, Ataxia, Inability to walk |
OMIM:617563 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Anorexia, Spastic hemiparesis, Reye syndrome-like episodes, Diarrhea, Weight loss, Myoclo... |
ORPHA:20 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Myoclonus |
ORPHA:168593 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Myoclonus |
OMIM:614946 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Cerebral palsy, Spastic tetraparesis, Paraparesis, Chronic diarrhea, Feeding diff... |
OMIM:620358 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Short stature, Diarrhea, Increased body weight, Growth delay, Vomiting, Delayed puberty, Failure ... |
ORPHA:264580 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Small for gestational age, Abnormality of neuronal migration, Feeding difficul... |
ORPHA:464311 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fasciculations, Upper motor neuron dysfunction |
ORPHA:52430 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina |
OMIM:146255 |
Graft Versus Host Disease |
|
Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Hemophagocytosis, Acute hepatitis |
ORPHA:39812 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia, Lethal short-limbed short stature, Disproportionate short-limb short sta... |
OMIM:187600 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Acromelic Frontonasal Dysostosis |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of corpus callosum, Optic ... |
OMIM:603671 |
19P13.13 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Abdominal pain, Diarrhea, Optic atrophy, Functional abnormality of the ga... |
ORPHA:357001 |
Van Maldergem Syndrome 1 |
|
Subcortical band heterotopia, Simplified gyral pattern, Feeding difficulties, Growth delay, Gray ... |
OMIM:601390 |
Poems Syndrome |
|
Lymphadenopathy, Hypogonadism, Thrombocytosis, Ascites, Polycythemia, Visceromegaly |
ORPHA:2905 |
Sialuria |
|
Hyperkinetic movements |
ORPHA:3166 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Severe short stature, Intestinal pseudo-obstruction, Short stature, Diarrhea, Mild s... |
OMIM:309900 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... |
OMIM:601104 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Dystonia, Athetoid cerebr... |
ORPHA:522077 |
Joubert Syndrome With Oculorenal Defect |
|
Aganglionic megacolon, Ataxia, Abnormality of neuronal migration |
ORPHA:2318 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia |
ORPHA:33226 |
Orofaciodigital Syndrome Vi |
|
Failure to thrive, Short stature, Hypothalamic hamartoma, Periventricular nodular heterotopia, Po... |
OMIM:277170 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Ataxia, Dysmetria, Myoclonus, Spasticity |
ORPHA:93399 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Lower limb hypertonia, Myoclonus, Tru... |
OMIM:301072 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Sepsis In Premature Infants |
|
Small for gestational age, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enteroco... |
ORPHA:90051 |
Riddle Syndrome |
|
Ataxia, Short stature, Abdominal pain, Diarrhea, Clumsiness, Weight loss, Gait disturbance, Poor ... |
ORPHA:420741 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Inability to walk, Reye syndrome-like episodes, Feeding difficulties, Gray matter heterotopia, Vo... |
ORPHA:26791 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An... |
OMIM:615934 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Chronic diarrhea, Short stature, Weight loss |
ORPHA:47 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Somatic sensory dysfunction, Abdominal pain, Tremor, Abdominal distention, D... |
ORPHA:79276 |
Q Fever |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hepatosplenomegaly, Abn... |
ORPHA:781 |
Late-Onset Isolated Acth Deficiency |
|
Nausea and vomiting, Orthostatic hypotension, Anorexia, Abdominal pain, Diarrhea, Weight loss, Co... |
ORPHA:199299 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Chronic diarrhea |
OMIM:619824 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
D-Glyceric Aciduria |
|
Spastic tetraplegia, Spasticity, Myoclonus, Opisthotonus |
OMIM:220120 |
Congenital Disorder Of Glycosylation, Type Im |
|
Diarrhea, Failure to thrive, Vomiting, Tetraplegia |
OMIM:610768 |
Abetalipoproteinemia |
|
Impaired vibratory sensation, Broad-based gait, Ataxia, Impaired distal proprioception, Babinski ... |
ORPHA:14 |
Immunodeficiency, Common Variable, 7 |
|
Chronic diarrhea |
OMIM:614699 |
Aicardi-Goutieres Syndrome 7 |
|
Lower limb spasticity, Atrophic gastritis, Spastic tetraparesis, Hematemesis, Diarrhea, Tetrapleg... |
OMIM:615846 |
Choreoacanthocytosis |
|
Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Poor motor coord... |
ORPHA:2388 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy |
ORPHA:139402 |
Citrullinemia Type Ii |
|
Tremor, Diarrhea, Vomiting, Delayed menarche, Decreased body mass index |
ORPHA:247585 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Ascites, Thrombocyto... |
ORPHA:93552 |
Congenital Sialidosis Type 2 |
|
Ataxia, Hydrocephalus, Dysmetria, Myoclonus, Spasticity |
ORPHA:93400 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Poliomyelitis |
|
Paraparesis, Hyperkinetic movements, Fasciculations, Paralysis |
ORPHA:2912 |
Dengue Fever |
|
Nausea and vomiting, Diarrhea, Gastrointestinal hemorrhage, Abdominal pain |
ORPHA:99828 |
Charcot-Marie-Tooth Disease Type 1F |
|
Limb ataxia, Hand tremor, Gait ataxia, Fasciculations, Head tremor |
ORPHA:101085 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Failure to thrive, Unsteady gait, Feeding difficulties, Gray matter heterotopi... |
OMIM:214100 |
Aa Amyloidosis |
|
Abdominal pain, Chronic diarrhea, Malnutrition, Vomiting, Nausea |
ORPHA:85445 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Lymphadenopathy, Hep... |
OMIM:615688 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... |
ORPHA:31150 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Carney Triad |
|
Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy |
ORPHA:139411 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Diarrhea, Recurrent infection of the gastrointestinal tract, Recurrent aphthous stomatitis, Abdom... |
ORPHA:486 |
Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Chronic diarrhea, Colitis |
OMIM:619281 |
Lymphangioleiomyomatosis |
|
Abnormality of the lymphatic system, Abnormal morphology of female internal genitalia, Lymphadeno... |
ORPHA:538 |
Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Impaired pain sensation, Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Gray ... |
ORPHA:453499 |
Microscopic Polyangiitis |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Peritonitis, Gastroin... |
ORPHA:727 |
Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom... |
ORPHA:333 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Full Schwannomatosis |
|
Fasciculations |
ORPHA:93921 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... |
OMIM:601186 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Failure to thrive, Abnormal cortical gyration, Partial agenesis of the corpus callosum, Dispropor... |
OMIM:210710 |
Periventricular Nodular Heterotopia |
|
Gastroesophageal reflux, Periventricular heterotopia |
ORPHA:98892 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Spastic diplegia, Opisthotonus, Ankle clonus, Myoclonus, Decerebrate rigid... |
ORPHA:206436 |
Alg1-Cdg |
|
Chronic diarrhea, Decreased liver function |
ORPHA:79327 |
Ppoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97278 |
Shigellosis |
|
Failure to thrive in infancy, Anorexia, Abdominal pain, Peritonitis, Ulcerative colitis, Bloody d... |
ORPHA:810 |
Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Tremor, Unsteady gait, Dystonia, Spasticity, Failure to thrive |
OMIM:615512 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Myoclonus |
OMIM:614462 |
Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Obesity |
OMIM:600955 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia |
OMIM:153670 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Gray matter heterotopia, Spasticity, Agenesis of corpus callosum, Type II ... |
OMIM:615287 |
Rheumatic Fever |
|
Hemiballismus, Chorea, Fasciculations |
ORPHA:3099 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Chronic diarrhea |
OMIM:618523 |
Acute Adrenal Insufficiency |
|
Nausea and vomiting, Orthostatic hypotension, Anorexia, Abdominal pain, Diarrhea, Weight loss, Co... |
ORPHA:95409 |
Miller-Dieker Lissencephaly Syndrome |
|
Failure to thrive, Gray matter heterotopia, Lissencephaly, Intrauterine growth retardation, Pachy... |
OMIM:247200 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... |
OMIM:617718 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Diarrhea, Vomiting, Nausea, Poor appetite |
ORPHA:542323 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism |
ORPHA:8 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Failure to thrive, Cachexia, Abdominal pain,... |
ORPHA:275761 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... |
ORPHA:567983 |
Zttk Syndrome |
|
Short stature, Feeding difficulties in infancy, Dysplastic corpus callosum, Chronic diarrhea, Opt... |
OMIM:617140 |
Systemic Capillary Leak Syndrome |
|
Diarrhea, Weight loss, Abdominal pain |
ORPHA:188 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Spasticity, Myoclonus |
OMIM:612949 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia, Spasticity, Gastrostomy tube feeding in infancy |
OMIM:618797 |
Fatal Familial Insomnia |
|
Ataxia, Myoclonus |
OMIM:600072 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Growth delay, Colitis, Steatorrhea, ... |
ORPHA:309031 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Ataxia, Optic nerve hypoplasia, Diarrhea, Gastroesophageal reflux, Positive Romberg sign, Nasogas... |
ORPHA:221139 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign... |
ORPHA:306674 |
Carnitine Palmitoyltransferase I Deficiency |
|
Diarrhea, Feeding difficulties |
OMIM:255120 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:2211 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidi... |
OMIM:618280 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Small for gestational age, Hand tremor, Weight loss |
ORPHA:424 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Weight loss, Nausea |
ORPHA:100085 |
Orofaciodigital Syndrome I |
|
Short stature, Abnormal cortical gyration, Gray matter heterotopia, Hypothalamic hamartoma, Agene... |
OMIM:311200 |
Immunodeficiency 40 |
|
Growth delay, Intermittent diarrhea, Focal active colitis, Chronic diarrhea |
OMIM:616433 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Ataxia, Hypertonia, Myoclonus, Spasticity |
OMIM:618426 |
Neurocutaneous Melanocytosis |
|
Hemiparesis, Abnormality of neuronal migration |
ORPHA:2481 |
Congenital Disorder Of Deglycosylation 1 |
|
Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, Myoclonus, Action tr... |
OMIM:615273 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Lassa Fever |
|
Nausea and vomiting, Diarrhea, Dysphagia, Abdominal pain |
ORPHA:99824 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Spasticity, Myoclonus |
OMIM:246450 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior |
ORPHA:530983 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... |
ORPHA:83471 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Bloody diarrhea |
OMIM:614328 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly |
OMIM:615947 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Short stature, Failure to thrive in infancy, Feeding difficulties in infancy, Chronic diarrhea, G... |
OMIM:613385 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Diarrhea, Gastritis |
ORPHA:2575 |
Microcephaly-Capillary Malformation Syndrome |
|
Myoclonus, Spastic tetraparesis |
OMIM:614261 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Thrombocytopenia, Vacuolated lymphocyt... |
ORPHA:167 |
Distal Renal Tubular Acidosis |
|
Short stature, Poor appetite, Paralysis, Diarrhea, Growth delay, Vomiting, Constipation, Failure ... |
ORPHA:18 |
Lissencephaly 2 |
|
Hypoplasia of the pons, Cerebellar hypoplasia |
OMIM:257320 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Dementia, Memory impairment, Abnorma... |
ORPHA:309271 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Spasticity |
ORPHA:1934 |
Mirage Syndrome |
|
Short stature, Chronic diarrhea, Paraplegia, Gastroesophageal reflux, Decreased body weight, Intr... |
OMIM:617053 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Relapsing Fever |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:91547 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Failure to thrive, Chronic diarrhea |
OMIM:619484 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Myoclonus, Dystonia |
OMIM:620167 |
Familial Mediterranean Fever |
|
Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Ascites, Pancreatitis |
ORPHA:342 |
Immunodeficiency 60 And Autoimmunity |
|
Chronic diarrhea, Colitis, Crohn's disease, Ulcerative colitis |
OMIM:618394 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Hypoplastic labia majora, Hypoplasia of the uterus, Clitoral hypoplasia, Gonada... |
OMIM:618419 |
Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
Turcot Syndrome With Polyposis |
|
Papilledema, Ataxia, Abdominal pain, Diarrhea, Hematochezia, Melena, Vomiting, Constipation, Nausea |
ORPHA:99818 |
Holoprosencephaly 14 |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Periventricular heterotopia |
OMIM:619895 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy |
ORPHA:32960 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, ... |
ORPHA:228123 |
Helsmoortel-Van Der Aa Syndrome |
|
Short stature, Facial palsy, Chronic diarrhea, Obesity, Feeding difficulties, Truncal obesity, La... |
OMIM:615873 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis, Bone marrow hypocellularity, Anemia |
OMIM:614083 |
Somatostatinoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97283 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus |
OMIM:619879 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Polymicrogyria, Agenesis of co... |
OMIM:618820 |
Glucagonoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97280 |
Shwachman-Diamond Syndrome 2 |
|
Short stature, Diarrhea, Steatorrhea, Failure to thrive, Exocrine pancreatic insufficiency |
OMIM:617941 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Abnormal social behavior, Progressive psychomotor deterioration |
ORPHA:309263 |
Immunodeficiency 56 |
|
Failure to thrive, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Hepatic f... |
OMIM:615207 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Diarrhea, Abdominal pain |
OMIM:615399 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly |
OMIM:231005 |
Developmental And Epileptic Encephalopathy 50 |
|
Broad-based gait, Failure to thrive, Diarrhea, Dysphagia |
OMIM:616457 |
Angioedema, Hereditary, 1 |
|
Hypoesthesia, Diarrhea, Vomiting, Abdominal pain |
OMIM:106100 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Tremor, Cryptorchidism, Dysplastic corpus callosum, Delayed puberty, Slen... |
OMIM:300967 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia |
ORPHA:3320 |
Mucopolysaccharidosis, Type Iiid |
|
Short stature, Diarrhea, Difficulty walking, Dysphagia, Tube feeding |
OMIM:252940 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Tremor, Ataxia, Myoclonus |
ORPHA:98794 |
Infantile Systemic Hyalinosis |
|
Severe short stature, Chronic diarrhea, Feeding difficulties, Growth delay, Steatorrhea, Failure ... |
ORPHA:2176 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ataxia, Myoclonus, Dystonia |
OMIM:619167 |
Grfoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97261 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastroparesis, Optic nerve hypoplasia, Proportionate short stature, Failure to thrive in infancy,... |
ORPHA:500150 |
Hereditary Angioedema Type 1 |
|
Abdominal pain, Diarrhea, Paresthesia, Vomiting, Dysphagia, Nausea |
ORPHA:100050 |
Tsh-Secreting Pituitary Adenoma |
|
Abnormal hair quantity, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadi... |
ORPHA:91347 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Somatic sensory dysfunction, Optic disc pallor, Ataxia, Parkinsonism, Abnormal au... |
ORPHA:909 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Small for gestational age, Clonus, Diarrhea, Babinski sign, Dysmetria, D... |
OMIM:606721 |
Lujo Hemorrhagic Fever |
|
Resting tremor, Fulminant hepatitis, Odynophagia, Diarrhea, Vomiting, Abdominal cramps, Dysphagia... |
ORPHA:319213 |
Multiple Myeloma |
|
Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:29073 |
Carcinoid Syndrome |
|
Nausea and vomiting, Lack of bowel sounds, Protracted diarrhea, Episodic abdominal pain |
ORPHA:100093 |
Alkuraya-Kucinskas Syndrome |
|
Oculomotor apraxia, Gray matter heterotopia, Lissencephaly |
OMIM:617822 |
Lysinuric Protein Intolerance |
|
Short stature, Protein avoidance, Diarrhea, Malnutrition, Truncal obesity, Vomiting, Failure to t... |
OMIM:222700 |
Koolen-De Vries Syndrome |
|
Short stature, Small for gestational age, Feeding difficulties in infancy, Gray matter heterotopi... |
OMIM:610443 |
Acrodermatitis Enteropathica |
|
Short stature, Poor appetite, Anorexia, Chronic diarrhea, Weight loss, Failure to thrive |
ORPHA:37 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology, Lymphadenopath... |
ORPHA:449432 |
Smith-Lemli-Opitz Syndrome |
|
Short stature, Aganglionic megacolon, Periventricular heterotopia, Abdominal distention, Partial ... |
OMIM:270400 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria, Feeding difficulties |
OMIM:614887 |
Nk-Cell Enteropathy |
|
Abdominal pain, Diarrhea, Hematochezia, Constipation, Gastroesophageal reflux |
ORPHA:263665 |
Immunodeficiency 22 |
|
Diarrhea, Failure to thrive, Protracted diarrhea |
OMIM:615758 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Short stature, Cachexia, Abdominal pain, Diarrhea, Hematochezia, Mel... |
ORPHA:79076 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Diarrhea, Feeding difficulties, Growth delay, Delayed puberty |
ORPHA:231226 |
Holoprosencephaly |
|
Failure to thrive in infancy, Feeding difficulties in infancy, Chorea, Optic atrophy, Abnormality... |
ORPHA:2162 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement |
OMIM:620233 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Choreoathetosis, Hypertonia, Hyperkinetic movements, Myoclonus, Dystonia |
ORPHA:17 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Lethal short-limbed short stature |
ORPHA:1860 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, Neutropenia in... |
ORPHA:37042 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy, Polycystic ovaries, Cirrhosis... |
OMIM:608594 |
Lathosterolosis |
|
Meningocele, Chiari malformation, Myoclonus, Cerebellar cortical atrophy |
ORPHA:46059 |
Van Maldergem Syndrome 2 |
|
Subcortical band heterotopia, Feeding difficulties, Growth delay, Gray matter heterotopia, Perive... |
OMIM:615546 |
Familial Gestational Hyperthyroidism |
|
Diarrhea, Hand tremor, Weight loss |
ORPHA:99819 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Hypersplenism, Splenomegaly, Leukocytosis, Thrombocytopenia, Epididy... |
ORPHA:1304 |
Hurler Syndrome |
|
Cerebral palsy, Short stature, Chronic diarrhea, Abnormal pyramidal sign, Feeding difficulties, G... |
ORPHA:93473 |
Mucopolysaccharidosis, Type Iiic |
|
Diarrhea, Dysphagia |
OMIM:252930 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina |
ORPHA:2237 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Short stature, Periventricular heterotopia |
OMIM:618870 |
Avian Influenza |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:454836 |
Mucopolysaccharidosis, Type Iiib |
|
Diarrhea |
OMIM:252920 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
Leukocyte Adhesion Deficiency Type Ii |
|
Short stature, Ataxia, Small for gestational age, Chronic diarrhea, Impaired tandem gait, Lower l... |
ORPHA:99843 |
Bronchial Neuroendocrine Tumor |
|
Bowel urgency, Poor appetite, Anorexia, Protracted diarrhea, Weight loss, Hepatic failure |
ORPHA:97287 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Tongue fasciculations, Myoclonus |
OMIM:614922 |
Mucopolysaccharidosis, Type Iiia |
|
Diarrhea |
OMIM:252900 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
Refractory Celiac Disease |
|
Weight loss, Chronic diarrhea, Malnutrition, Abdominal pain |
ORPHA:398063 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Chronic diarrhea, Cachexia, Steatorrhea |
ORPHA:3217 |
Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Abdominal colic, Functional intestinal obstruction, Mechanical ileus, Bowel ... |
ORPHA:100079 |
Primary Intestinal Lymphangiectasia |
|
Abdominal pain, Chronic diarrhea, Functional abnormality of the gastrointestinal tract, Weight lo... |
ORPHA:90362 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Labial hypertrophy, Poly... |
OMIM:269700 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Gastritis, Abdominal pain, Hematemesis, Diarrhea, Peritonitis, Enter... |
ORPHA:73263 |
Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea |
OMIM:601979 |
Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea |
OMIM:619481 |
Addison Disease |
|
Nausea and vomiting, Orthostatic hypotension, Anorexia, Abdominal pain, Diarrhea, Weight loss, Co... |
ORPHA:85138 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Reye syndrome-like episodes, Diarrhea, Vomiting |
ORPHA:348 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Abdominal pain, Diarrhea, Weight loss, Chronic constipation, Inflammation of t... |
OMIM:301074 |
Malakoplakia |
|
Orchitis, Prostate neoplasm, Follicular hyperplasia |
ORPHA:556 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Short stature, Chronic diarrhea, Colitis, Recurrent aphthous stoma... |
OMIM:618131 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Growth delay, Abdominal distention, Failure to thrive, Secretory diarrhea |
OMIM:214700 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Involuntary movements, Orthostatic tachycardia, Rigidity, Chorea, Diarrh... |
ORPHA:217253 |
Hennekam Syndrome |
|
Lymphopenia, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Ascites |
ORPHA:2136 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... |
ORPHA:331235 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Osteootohepatoenteric Syndrome |
|
Increased intestinal transit time, Abdominal pain, Secretory diarrhea, Weight loss, Failure to th... |
OMIM:619377 |
African Trypanosomiasis |
|
Alopecia, Abnormal central motor function, Somatic sensory dysfunction, Involuntary movements, Ak... |
ORPHA:3385 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Diarrhea... |
ORPHA:36426 |
Listeriosis |
|
Somatic sensory dysfunction, Ataxia, Abdominal pain, Tremor, Diarrhea, Peritonitis, Hemiparesis, ... |
ORPHA:533 |
9P13 Microdeletion Syndrome |
|
Myoclonus, Hand tremor |
ORPHA:324313 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia |
OMIM:607944 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia, Obesity |
OMIM:608624 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Enterocolitis, Bloody diarrhea, Hematochezia, Intrauterine growth retarda... |
OMIM:243150 |
Orofaciodigital Syndrome Iii |
|
Myoclonus |
OMIM:258850 |
Cholera |
|
Achlorhydria, Abdominal pain, Diarrhea, Abdominal cramps, Vomiting |
ORPHA:173 |
Cherubism |
|
Submandibular lymph node enlargement |
OMIM:118400 |
Beta-Thalassemia Major |
|
Failure to thrive in infancy, Diarrhea, Feeding difficulties, Growth delay, Delayed puberty |
ORPHA:231214 |
48,Xxxy Syndrome |
|
Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:96263 |
Bacterial Toxic-Shock Syndrome |
|
Abdominal pain, Diarrhea, Peritonitis, Vomiting, Nausea |
ORPHA:36234 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Diarrhea, Failure to thrive, Abdominal pain |
OMIM:174900 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Aplasia of the uterus, ... |
OMIM:274000 |
Rothmund-Thomson Syndrome Type 1 |
|
Short stature, Small for gestational age, Diarrhea, Functional abnormality of the gastrointestina... |
ORPHA:221008 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Complement Component 5 Deficiency |
|
Intractable diarrhea |
OMIM:609536 |
Infection-Related Hemolytic Uremic Syndrome |
|
Abdominal pain, Diarrhea, Secretory diarrhea, Bloody diarrhea, Hemiparesis, Gastrointestinal infa... |
ORPHA:544482 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Cervical lymp... |
ORPHA:3260 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nausea |
ORPHA:324636 |
3-Methylglutaconic Aciduria, Type Viii |
|
Clonus, Tremor, Growth delay, Hypertonia, Dystonia, Neonatal death, Failure to thrive |
OMIM:617248 |
Familial Mediterranean Fever |
|
Abdominal pain, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic constipation, Vomiting, C... |
OMIM:249100 |
Acute Radiation Syndrome |
|
Diarrhea, Vomiting |
ORPHA:454831 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Intestinal obstruction, Chronic diarrhea, Short stature |
OMIM:601675 |
Multiple Endocrine Neoplasia, Type Iib |
|
Constipation, Aganglionic megacolon, Failure to thrive in infancy, Diarrhea |
OMIM:162300 |
Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Ataxia, Abnormal pyramidal sign, Optic atrophy, Hypertonia, Gait disturbance,... |
ORPHA:581 |
Nijmegen Breakage Syndrome |
|
Chronic diarrhea, Short stature, Abnormality of neuronal migration, Cachexia |
ORPHA:647 |
Rothmund-Thomson Syndrome Type 2 |
|
Short stature, Small for gestational age, Diarrhea, Functional abnormality of the gastrointestina... |
ORPHA:221016 |
Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Diarrhea |
ORPHA:90035 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Chronic diarrhea, Chronic constipation, Decreased body weight, Intrauter... |
OMIM:619005 |
Bare Lymphocyte Syndrome, Type Ii |
|
Failure to thrive, Colitis, Protracted diarrhea |
OMIM:209920 |
Congenital Disorder Of Glycosylation, Type It |
|
Short stature, Chronic diarrhea, Growth delay, Vomiting, Delayed puberty |
OMIM:614921 |
Ileal Neuroendocrine Tumor |
|
Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abdominal pain, Weight ... |
ORPHA:100078 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... |
OMIM:619381 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Diarrhea, Short stature, Delayed puberty |
OMIM:307200 |
Pontocerebellar Hypoplasia Type 7 |
|
Involuntary movements, Olivopontocerebellar hypoplasia, Hypertonia, Myoclonus, Fasciculations, Sp... |
ORPHA:284339 |
Scorpion Envenomation |
|
Hemifacial spasm, Ataxia, Tremor, Hyperkinetic movements, Myoclonus |
ORPHA:466677 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Abnormal vagina morphology, Hypospadias, Bifid uterus |
OMIM:236680 |
Microvillus Inclusion Disease |
|
Abdominal distention, Diarrhea |
ORPHA:2290 |
Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Oligozoospermia, Growth dela... |
ORPHA:125 |
Rothmund-Thomson Syndrome |
|
Small for gestational age, Short stature, Nasogastric tube feeding in infancy, Diarrhea, Vomiting |
ORPHA:2909 |
Immunodeficiency 23 |
|
Ataxia, Myoclonus, Cortical myoclonus |
OMIM:615816 |
Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic hypotension, Vomiting, Diarrhea |
ORPHA:230 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis |
OMIM:203700 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Vaginal dryness, Chronic active hepatitis, Biliary cirrhosis, Lymphadenopathy,... |
ORPHA:289390 |
Fg Syndrome Type 1 |
|
Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:93932 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Myoclonus |
ORPHA:314655 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Episodic abdominal pain, Hematoche... |
ORPHA:913 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Chronic diarrhea, Short stature |
OMIM:613989 |
Mitchell-Riley Syndrome |
|
Intrauterine growth retardation, Diarrhea |
OMIM:615710 |
Ogden Syndrome |
|
Torticollis, Short stature, Postnatal growth retardation, Diarrhea, Dysphagia, Feeding difficulti... |
OMIM:300855 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperkinetic movements, Myoclonic spasms |
ORPHA:73224 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Short stature, Diarrhea, Enterocolitis, Ulcerative colitis, Growth delay, Inflammation of the lar... |
ORPHA:79259 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Orchitis, Splenomegaly, Leukocytosi... |
ORPHA:99827 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Colitis, Failure to thrive in infancy |
OMIM:301220 |
Bartter Syndrome, Type 1, Antenatal |
|
Short stature, Small for gestational age, Diarrhea, Constipation, Paresthesia, Vomiting, Failure ... |
OMIM:601678 |
Alg9-Cdg |
|
Lower limb spasticity, Torticollis, Rhizomelia, Diarrhea, Vomiting, Gastroesophageal reflux |
ORPHA:79328 |
Opsoclonus-Myoclonus Syndrome |
|
Rigidity, Limb myoclonus, Ataxia, Myoclonus |
ORPHA:1183 |
Dubowitz Syndrome |
|
Short stature, Postnatal growth retardation, Feeding difficulties in infancy, Chronic diarrhea, G... |
OMIM:223370 |
Angelman Syndrome |
|
Tremor, Ataxia, Myoclonus |
ORPHA:72 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Oculomotor apraxia, Ataxia, Myoclonus |
ORPHA:247262 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Spastic tetraplegia, Clonus, Myoclonus |
OMIM:619055 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Diarrhea |
OMIM:240300 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Abdominal distention, Optic disc coloboma, Secretory diarrhea |
OMIM:270420 |
Immunodeficiency, Common Variable, 14 |
|
Chronic diarrhea |
OMIM:617765 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Sparse axillary hair, Decreased f... |
ORPHA:251510 |
Deeah Syndrome |
|
Short stature, Impaired pain sensation, Chronic diarrhea, Chronic constipation, Dysphagia, Intrau... |
OMIM:619004 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ataxia, Babinski sign, Dysmetria, Gait ataxia, Progressive gait ataxia, Myoclonus, Frequent falls |
OMIM:607459 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Biliary tract abnormality, Hypoplasia of the uterus, Bicornuate uterus, Epididymal c... |
OMIM:137920 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility |
OMIM:244400 |
Immunodeficiency 25 |
|
Protracted diarrhea |
OMIM:610163 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Acute colitis |
ORPHA:90038 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Diarrhea, Colitis, Recurrent aphthous stomatitis, Abdominal pain |
OMIM:613960 |
Radiation Proctitis |
|
Hematochezia, Intestinal obstruction, Diarrhea, Tenesmus |
ORPHA:70475 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Diarrhea, Chronic diarrhea |
OMIM:102700 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Orchitis, Lymphadenopathy, Prostatitis, Panc... |
ORPHA:449563 |
Proximal Renal Tubular Acidosis |
|
Mild postnatal growth retardation, Short stature, Diarrhea, Growth delay, Vomiting, Failure to th... |
ORPHA:47159 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Diarrhea, Tetraplegia, Feeding difficulties, Myoclonus, Failure to thrive |
OMIM:618278 |
Glycogen Storage Disease Ia |
|
Short stature, Growth delay, Protuberant abdomen, Delayed puberty, Intermittent diarrhea |
OMIM:232200 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Diarrhea |
OMIM:619313 |
Gitelman Syndrome |
|
Nausea and vomiting, Abdominal pain, Paralysis, Diarrhea, Constipation, Paresthesia, Delayed pube... |
ORPHA:358 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:667 |
Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Abnormal reproductive system m... |
ORPHA:797 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
Pearson Syndrome |
|
Ataxia, Small for gestational age, Postnatal growth retardation, Chronic diarrhea, Steatorrhea, G... |
ORPHA:699 |
Bartter Syndrome, Type 2, Antenatal |
|
Short stature, Small for gestational age, Diarrhea, Constipation, Paresthesia, Vomiting, Failure ... |
OMIM:241200 |
Trichohepatoneurodevelopmental Syndrome |
|
Chronic diarrhea, Feeding difficulties, Gastroesophageal reflux, Decreased liver function, Steato... |
OMIM:618268 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Chronic diarrhea |
OMIM:242700 |
Diamond-Blackfan Anemia 21 |
|
Chronic diarrhea, Short stature, Obesity |
OMIM:620072 |
Hemorrhagic Fever-Renal Syndrome |
|
Abdominal pain, Hematemesis, Diarrhea, Melena, Vomiting, Decreased body weight, Nausea |
ORPHA:340 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Abdominal pain, Hematemesis, Cranial nerve compression, Diarrhea, Weight loss, Melena, ... |
ORPHA:652 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Myoclonus |
ORPHA:1352 |
Syndromic Diarrhea |
|
Short stature, Gastritis, Small for gestational age, Bloody diarrhea, Colitis, Intractable diarrh... |
ORPHA:84064 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Reactive Arthritis |
|
Abdominal pain, Diarrhea, Weight loss, Inflammation of the large intestine, Recurrent aphthous st... |
ORPHA:29207 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemiparesis, Diarrhea |
OMIM:235400 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cerebellar dysplasia, Hydrocephalus, Myoclonus, Cerebellar hypoplasia, Spasticity, Cerebellar cyst |
OMIM:253280 |
Nijmegen Breakage Syndrome |
|
Recurrent infection of the gastrointestinal tract, Intrauterine growth retardation, Diarrhea, Sho... |
OMIM:251260 |
Arima Syndrome |
|
Growth delay, Gray matter heterotopia, Optic atrophy, Ataxia |
OMIM:243910 |
Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Inabil... |
ORPHA:273 |
Colchicine Poisoning |
|
Diarrhea, Vomiting, Nausea |
ORPHA:31824 |
Pearson Marrow-Pancreas Syndrome |
|
Failure to thrive, Small for gestational age, Anorexia, Chronic diarrhea, Vomiting, Steatorrhea, ... |
OMIM:557000 |
Trichohepatoenteric Syndrome 1 |
|
Short stature, Small for gestational age, Hepatic failure, Intractable diarrhea, Intrauterine gro... |
OMIM:222470 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, Ataxia, Spastic tetraplegia, Myoclonus, Spastic paraparesis, Spasticity |
OMIM:609136 |
Orofaciodigital Syndrome Xiv |
|
Periventricular heterotopia, Partial agenesis of the corpus callosum, Optic disc coloboma, Simpli... |
OMIM:615948 |
Immunodeficiency 59 And Hypoglycemia |
|
Chronic diarrhea, Short stature, Recurrent aphthous stomatitis |
OMIM:233600 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Myoclonus |
ORPHA:251004 |
Mednik Syndrome |
|
Growth delay, Diarrhea |
OMIM:609313 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Failure to thrive in infancy, Poor appetite, Diarrhea, Intrauterine ... |
ORPHA:247598 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
ORPHA:99413 |
Mosaic Monosomy X |
|
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
ORPHA:99228 |
Monosomy X |
|
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
ORPHA:99226 |
Turner Syndrome |
|
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
ORPHA:881 |
Myoclonic Epilepsy Of Lafora |
|
Myoclonus, Apraxia |
OMIM:254780 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Protracted diarrhea |
ORPHA:331206 |
Rat-Bite Fever |
|
Diarrhea, Vomiting, Parotitis, Weight loss |
ORPHA:31205 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Epididymitis, Lymphadenopathy, Throm... |
OMIM:256040 |
Behçet Disease |
|
Orchitis, Splenomegaly, Pancreatitis, Lymphadenopathy |
ORPHA:117 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morphology, Lymphadenop... |
ORPHA:449395 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Short stature |
OMIM:227650 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Pain insensitivity, Incoordination, Ataxia, Diarrhea, Slurred speech... |
ORPHA:90062 |
Dubowitz Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Chronic diarrhea, Short stature |
ORPHA:235 |
Developmental And Epileptic Encephalopathy 2 |
|
Myoclonus |
OMIM:300672 |
Microsporidiosis |
|
Anorexia, Abdominal pain, Cachexia, Peritonitis, Chronic diarrhea, Weight loss, Vomiting, Intermi... |
ORPHA:2552 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Hypospadias, Precocious puberty, Cryptorchidism, Biliary tract abnormality, Apl... |
OMIM:194190 |
Okamoto Syndrome |
|
Splenomegaly, Bifid uterus |
ORPHA:2729 |
Genitopatellar Syndrome |
|
Periventricular heterotopia, Feeding difficulties, Colpocephaly, Dysphagia, Pachygyria, Agenesis ... |
OMIM:606170 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea |
OMIM:226730 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:536 |
Prader-Willi Syndrome Due To Translocation |
|
Attention deficit hyperactivity disorder, Abnormal social behavior, Impaired social interactions |
ORPHA:177907 |
Orofaciodigital Syndrome Type 14 |
|
Partial agenesis of the corpus callosum, Gastrostomy tube feeding in infancy, Periventricular het... |
ORPHA:434179 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Short stature, Diarrhea, Enterocolitis, Growth delay, Delayed puberty |
ORPHA:391487 |
Plague |
|
Anorexia, Abdominal pain, Hematemesis, Diarrhea, Unsteady gait, Slurred speech, Enterocolitis, Bl... |
ORPHA:707 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Immunodeficiency 92 |
|
Chronic diarrhea, Esophagitis |
OMIM:619652 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormal social behavior |
ORPHA:309256 |
Cocaine Intoxication |
|
Involuntary movements, Abdominal pain, Tremor, Bloody diarrhea, Gastrointestinal infarctions, Col... |
ORPHA:90068 |
Vipoma |
|
Nausea and vomiting, Poor appetite, Anorexia, Secretory diarrhea, Episodic abdominal pain, Hemato... |
ORPHA:97282 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Broad-based gait |
OMIM:618918 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
OMIM:181000 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Failure to thrive, Abdominal distention, Diarrhea, Malnutrition, Dependency on... |
OMIM:619991 |
Developmental And Epileptic Encephalopathy 100 |
|
Choreoathetosis, Chorea, Myoclonus, Gait ataxia |
OMIM:619777 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Orchitis, Jaundice, Neutrophilia in presence of infection, Lymphade... |
ORPHA:99826 |
Pgm3-Cdg |
|
Ataxia, Myoclonus, Cortical myoclonus |
ORPHA:443811 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Limb dystonia, Cerebral palsy, Myoclonus, Dystonia, Hemiplegia, Limb hypertonia |
OMIM:616973 |
Pagod Syndrome |
|
Optic atrophy, Short stature, Abnormality of neuronal migration |
ORPHA:991 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Good Syndrome |
|
Diarrhea, Dysphagia |
ORPHA:169105 |
Cystic Fibrosis |
|
Meconium ileus, Diarrhea, Ileus, Steatorrhea, Failure to thrive, Exocrine pancreatic insufficiency |
OMIM:219700 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... |
ORPHA:3464 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Secretory diarrhea |
OMIM:614441 |
Kinsship Syndrome |
|
Spastic tetraparesis, Myoclonus, Dandy-Walker malformation |
OMIM:619297 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abdominal distention, Diarrhea, Constipation, Ganglioneuromatosis |
ORPHA:653 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Fontaine Progeroid Syndrome |
|
Short stature, Small for gestational age, Periventricular heterotopia, Feeding difficulties, Gray... |
OMIM:612289 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Pancolitis, Bloody diarrhea, Spasticity, Failure to t... |
OMIM:618213 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Secretory diarrhea, Fee... |
OMIM:619573 |
Lysinuric Protein Intolerance |
|
Failure to thrive, Diarrhea, Feeding difficulties, Vomiting, Steatorrhea, Hepatic failure |
ORPHA:470 |
Mowat-Wilson Syndrome |
|
Dependency on intravenous nutrition, Broad-based gait, Decreased body weight, Short stature, Atax... |
ORPHA:2152 |
Ethylene Glycol Poisoning |
|
Slurred speech, Ataxia, Myoclonus |
ORPHA:31826 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Failure to thrive, Short stature, Aganglionic megacolon, Bowel incontinence, Pe... |
ORPHA:261537 |
Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hematemesis, Bloody diarrhea, Hematochezia, Melena |
ORPHA:464321 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Bilateral cryptorchidis... |
ORPHA:1772 |
Kawasaki Disease |
|
Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Cholecystitis |
ORPHA:2331 |
Blau Syndrome |
|
Splenomegaly, Abnormality of the liver, Anemia, Lymphadenopathy |
ORPHA:90340 |
Wiskott-Aldrich Syndrome |
|
Hematemesis, Diarrhea, Chronic diarrhea, Ulcerative colitis, Melena, Inflammation of the large in... |
OMIM:301000 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia |
OMIM:219730 |
Mucoepithelial Dysplasia, Hereditary |
|
Melena, Chronic diarrhea |
OMIM:158310 |
Lafora Disease |
|
Spasticity, Ataxia, Myoclonus, Erratic myoclonus |
ORPHA:501 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Abnormal lymp... |
ORPHA:99889 |
Immunodeficiency 17 |
|
Failure to thrive, Chronic diarrhea, Recurrent gastroenteritis |
OMIM:615607 |
Chronic Graft Versus Host Disease |
|
Anorexia, Abdominal pain, Diarrhea, Xerostomia, Weight loss, Gastroesophageal reflux, Dysphagia, ... |
ORPHA:99921 |
Immunodeficiency 47 |
|
Failure to thrive, Chronic diarrhea, Exocrine pancreatic insufficiency |
OMIM:300972 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Thrombocytopenia, Lymphadenopathy |
ORPHA:79078 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Anemia |
OMIM:130050 |
Multiple Endocrine Neoplasia, Type I |
|
Diarrhea, Esophagitis |
OMIM:131100 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Failure to thrive, Chronic diarrhea, Short stature, Difficulty walking |
ORPHA:158668 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Failure to thrive, Short stature, Aganglionic megacolon, Bowel incontinence, Pe... |
ORPHA:261552 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Chronic diarrhea |
OMIM:601495 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Short stature, Decreased nerve conduction velocity, Chronic diarrhea, Optic atrophy,... |
ORPHA:580 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363958 |
Leptospirosis |
|
Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia |
ORPHA:509 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Secretory diarrhea, Feeding difficulties |
OMIM:618183 |
X-Linked Intellectual Disability, Snyder Type |
|
Involuntary movements, Myoclonus |
ORPHA:3063 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Memory impairment, Abnormal social behavior |
ORPHA:314647 |
Secondary Intestinal Lymphangiectasia |
|
Abdominal colic, Intestinal obstruction, Chronic diarrhea, Intestinal bleeding, Vomiting |
ORPHA:90363 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Short stature, Chronic diarrhea, Optic atrophy, Growth delay |
ORPHA:217085 |
Noonan Syndrome 1 |
|
Male infertility, Short stature, Postnatal growth retardation, Cryptorchidism, Low posterior hair... |
OMIM:163950 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Short stature, Chronic diarrhea, Optic atrophy, Growth delay |
ORPHA:217093 |
Peutz-Jeghers Syndrome |
|
Abdominal pain, Intestinal bleeding, Bloody diarrhea |
OMIM:175200 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intrauterine growth retardation, Abdominal distention, Bloody diarrhea |
ORPHA:436252 |
Occipital Horn Syndrome |
|
Growth delay, Orthostatic hypotension, Chronic diarrhea |
OMIM:304150 |
Multiple Endocrine Neoplasia Type 4 |
|
Diarrhea, Esophagitis, Episodic abdominal pain |
ORPHA:276152 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Secretory diarrhea |
OMIM:167100 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Small for gestational age, Feeding difficulties, Intermittent diarrhea, Intrauterine growth retar... |
ORPHA:2255 |
Coffin-Siris Syndrome 1 |
|
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus |
OMIM:135900 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Failure to thrive in infancy |
ORPHA:35078 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Abnormal social behavior |
ORPHA:1675 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Growth delay, Hematochezia, Failure to thrive |
ORPHA:2929 |
Sapho Syndrome |
|
Inflammation of the large intestine, Chronic diarrhea, Steatorrhea, Abdominal pain |
ORPHA:793 |
Wiskott-Aldrich Syndrome |
|
Hematochezia, Inflammation of the large intestine, Chronic diarrhea, Hematemesis |
ORPHA:906 |
Yellow Fever |
|
Abdominal pain, Hematemesis, Diarrhea, Vomiting, Nausea |
ORPHA:99829 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Failure to thrive, Chronic diarrhea, Recurrent infection of the gastrointestinal tract |
OMIM:612132 |
Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
Aspartylglucosaminuria |
|
Spasticity, Short stature, Diarrhea |
OMIM:208400 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
Meconium Ileus |
|
Chronic diarrhea, Meconium ileus |
OMIM:614665 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormality of neuronal migration |
ORPHA:3186 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Neutral Lipid Storage Myopathy |
|
Fasciculations |
ORPHA:98908 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Diarrhea, Xerostomia, Gastrointestinal... |
ORPHA:95455 |
Mend Syndrome |
|
Abnormal social behavior |
ORPHA:401973 |
Tuberous Sclerosis Complex |
|
Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:805 |
Leukocyte Adhesion Deficiency, Type I |
|
Chronic diarrhea |
OMIM:116920 |
Doors Syndrome |
|
Small cerebellar cortex, Spina bifida occulta, Myoclonus, Dandy-Walker malformation |
ORPHA:79500 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux |
ORPHA:3164 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia, Involuntary movements, Myoclonus |
ORPHA:438213 |
Viss Syndrome |
|
Chronic gastritis, Short stature, Abdominal distention, Chronic diarrhea, Feeding difficulties, C... |
OMIM:619472 |
Norrie Disease |
|
Cryptorchidism, Uterine rupture |
ORPHA:649 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse |
ORPHA:286 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent gastroenteritis, Bloody diarrhea |
ORPHA:294023 |
Proteus Syndrome |
|
Gray matter heterotopia, Cachexia |
ORPHA:744 |
Williams Syndrome |
|
Abnormal social behavior, Attention deficit hyperactivity disorder, Overfriendliness |
ORPHA:904 |
Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Aplasia of the upper vagina... |
OMIM:601803 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
Epilepsy, Familial Temporal Lobe, 7 |
|
|
OMIM:616436 |