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Gene: Reln MGI:103022

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Gene Summary

Name:
reelin
Synonyms:
N/A

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Relnem1(IMPC)Mbp HET Early adult 0.00
abnormal lymph node morphology Relnem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, incomplete penetrance Relnem1(IMPC)Mbp HOM   Early adult 0.00
enlarged spleen Relnem1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Relnem1(IMPC)Mbp HET Early adult 0.00
abnormal uterus morphology Relnem1(IMPC)Mbp HET Early adult 0.00
male infertility Relnem1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Relnem1(IMPC)Mbp HET Early adult 0.00
hydrometra Relnem1(IMPC)Mbp HET Early adult 0.00
female infertility Relnem1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

41 Images

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X-ray

XRay Images Whole Body Dorso Ventral

79 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Reln mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Reln by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Feeding difficult... ORPHA:89844
Lissencephaly 2
Hypoplasia of the pons, Cerebellar hypoplasia OMIM:257320
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Epilepsy, Familial Temporal Lobe, 7
OMIM:616436

The table below shows human diseases predicted to be associated to Reln by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Reln

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Reln.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Novel genetic tools facilitate the study of cortical neuron migration. Mammalian genome : official journal of the International Mammalian Genome Society (December 2015) Relntm1a(KOMP)Mbp PMC4732900

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Relntm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Relnem1(IMPC)Mbp Exon Deletion Mice, Tissue
Relntm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Relntm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Relntm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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