banner
Genes Phenotypes Help, News, Blog

Gene: Reln MGI:103022

Log in to follow

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
abnormal lymph node morphology Relnem1(IMPC)Mbp HET Early adult 0.00
abnormal uterus morphology Relnem1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Relnem1(IMPC)Mbp HET Early adult 0.00
female infertility Relnem1(IMPC)Mbp HOM Early adult 0.00
male infertility Relnem1(IMPC)Mbp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Relnem1(IMPC)Mbp HOM   Early adult 0.00
abnormal spleen morphology Relnem1(IMPC)Mbp HET Early adult 0.00
enlarged lymph nodes Relnem1(IMPC)Mbp HET Early adult 0.00
hydrometra Relnem1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Relnem1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Dorso Ventral

79 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

41 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

8 Images

View images

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
Microlissencephaly, Abnormality of neuronal migration, 4-layered lissencephaly, Dysphagia, Agenes... 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
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Spermatogenic Failure 17
Male infertility OMIM:617214
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, 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
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
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
Tremor by anatomical site, Cerebellar atrophy, Head tremor, Action tremor, Gait ataxia, Upper lim... ORPHA:98769
Spinocerebellar Ataxia 37
Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Impaired vibratory sensation ORPHA:217012
Spinocerebellar Ataxia Type 5
Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech ORPHA:98766
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,... OMIM:617018
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Cerebellar atrophy, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Spinocerebellar Ataxia 41
Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia OMIM:616410
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait OMIM:605388
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Spastic Paraplegia 62, Autosomal Recessive
Spastic gait, Hoffmann sign, Babinski sign, Lower limb spasticity, Fasciculations, Spasticity, Ab... OMIM:615681
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Tremor, Ataxia OMIM:213000
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tre... OMIM:616053
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
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Spasticity, Agyria, Gray matter heterotopia, Ataxia, Pachygyria, Ag... OMIM:300067
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Cerebellar Ataxia, Cayman Type
Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia... ORPHA:94122
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar atrophy, Inability... OMIM:615268
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
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
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Myoclonus OMIM:618876
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Autosomal Recessive Spastic Paraplegia Type 32
Babinski sign, Difficulty walking, Cerebellar cortical atrophy, Impaired vibration sensation in t... ORPHA:171622
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Limb dystonia, Head tremor, Myoc... OMIM:614860
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Autosomal Spastic Paraplegia Type 30
Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Atax... ORPHA:101010
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617133
Spinocerebellar Ataxia Type 37
Falls, Cerebellar vermis atrophy, Dysdiadochokinesis, Tremor, Truncal ataxia, Myoclonus, Gait dis... ORPHA:363710
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Amyotrophic Lateral Sclerosis 3
Cerebellar atrophy OMIM:606640
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements OMIM:611031
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Cerebellar atrophy, Inability to walk OMIM:619333
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Ataxia, Myoclonus OMIM:616187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Dystonia 31
Abnormal posturing, Difficulty walking, Writer's cramp, Leg dystonia, Craniofacial dystonia, Arm ... OMIM:619565
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
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Ataxia, Gait ataxia OMIM:117210
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Unsteady gait... OMIM:615768
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spastic Paraplegia 32, Autosomal Recessive
Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Cerebellar atrophy, Spast... OMIM:611252
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spastic gait, Babinski sign, Chiari type I malformation, Impaired distal proprioception, Spastici... OMIM:619742
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Cereb... ORPHA:276193
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Cerebellar ve... ORPHA:284332
Dystonia With Cerebellar Atrophy
Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Cerebellar atrophy, Dystonia OMIM:611694
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Cerebell... OMIM:613908
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Limb tremor, Agenesis of ... ORPHA:401820
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Cerebellar atrophy, Intention tremor, Ataxia, Unsteady gai... OMIM:616948
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progressive gait ataxia, Dysmetria OMIM:607458
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619528
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Truncal ataxia, Ataxia, Cerebellar hypoplasia, Dysmetria OMIM:617584
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Dystonia, Torticollis, Involuntary movements OMIM:620245
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Inten... ORPHA:101110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Dystonia 6, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Lingual dystonia, Limb dys... OMIM:602629
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
Lichtenstein-Knorr Syndrome
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti... OMIM:616291
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, Intention tremo... ORPHA:314978
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spermatogenic Failure 25
Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia OMIM:617960
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Migraine, Familial Hemiplegic, 1
Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Lissencephaly 4
Babinski sign, Hypertonia, Growth delay, Short stature, Colpocephaly, Simplified gyral pattern, F... OMIM:614019
Spermatogenic Failure 63
Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Cerebellar atrophy, Gait d... ORPHA:98762
Spermatogenic Failure 50
Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Paroxysmal Non-Kinesigenic Dyskinesia
Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Rigidi... ORPHA:98810
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Uns... ORPHA:423275
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Torticollis, Writer's cramp, Dystonia, Myoclonus, Limb myoclonus ORPHA:36899
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Spasticity, Abnormality of neuronal migration, Subcortical heterotopia, Agenesis ... ORPHA:101029
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Cerebellar atrophy, Head tremo... OMIM:604326
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Dystonia, Ataxia, Abnormal pyra... OMIM:614561
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Lissencephaly 3
Polymicrogyria, Agyria, Gray matter heterotopia, Ataxia, Pachygyria, Agenesis of corpus callosum,... OMIM:611603
Autosomal Recessive Spastic Paraplegia Type 69
Spastic dysarthria, Lower limb spasticity, Agenesis of corpus callosum, Aplasia/Hypoplasia of the... ORPHA:401830
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls OMIM:616921
Spermatogenic Failure 30
Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia OMIM:618110
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Cerebellar atrophy, G... OMIM:604432
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall... OMIM:607317
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall... OMIM:611302
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Cerebellar atrophy, Intention tremor, Action tremor... OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria OMIM:608029
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigid... ORPHA:98763
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction
Spasticity, Spastic tetraparesis, Cerebellar atrophy, Gait disturbance, Dystonia OMIM:620515
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 10
Limb ataxia, Babinski sign, Fasciculations, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Inte... OMIM:613728
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Developmental And Epileptic Encephalopathy 37
Hyperkinetic movements, Chorea, Spasticity, Cerebellar atrophy, Cogwheel rigidity, Rigidity, Myoc... OMIM:616981
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Normal pressure hydrocephalus OMIM:611808
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Myoclonus OMIM:600143
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia ORPHA:1646
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Autosomal Spastic Paraplegia Type 72
Spastic gait, Rigidity, Impaired vibration sensation at ankles, Postural tremor ORPHA:401849
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Dystonia 15, Myoclonic
Dystonia, Writer's cramp, Myoclonus OMIM:607488
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Intention tremor, Gait ataxia, Unsteady gait,... OMIM:615386
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Tremor, Chorea ORPHA:494526
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Babinski sign, Oculomotor apraxia, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, ... ORPHA:453521
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Cerebellar atrophy, Ataxia, Gait ataxia OMIM:615705
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Cerebellar vermis atrophy, Incoordination, Tremor, Spasticity, Gait ataxia, Dilated ... OMIM:213200
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Spinocerebellar Ataxia 50
Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Action tremor, Ataxi... OMIM:620158
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Cerebellar dysplasia, Cerebellar hypoplasia, Partial a... OMIM:604213
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Oculomotor apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, ... OMIM:616127
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Babinski sign, Hypertonia, Oromandibular dystonia, Torticollis, Inability to ... OMIM:128100
Spastic Paraplegia 30, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Cerebellar atrophy, Spastic paraplegia, Ataxi... OMIM:610357
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly, Intraut... OMIM:615411
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Babinski sign, Lower limb spasticity, Cerebellar vermis atrophy, Spasticity, Cerebel... OMIM:614322
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Cerebellar atroph... OMIM:620453
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Aplasia of the inferior half of the cerebellar vermis, Atrophy of the dentate nucleus, Broad-base... OMIM:610185
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormality of extrapyramidal motor function, Abnormal cerebellum morphology, Ataxia, Parkinsonis... OMIM:162350
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia ORPHA:309169
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Difficulty walking, Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Ce... ORPHA:512260
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Cerebellar... ORPHA:521406
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Tremor, Cerebellar atrophy, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Pontocerebellar Hypoplasia, Type 1E
Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar atrophy, Myoclonus OMIM:619303
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait disturbance... OMIM:617145
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Cerebellar Ataxia, Cayman Type
Bradykinesia, Broad-based gait, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Intention tremor... OMIM:601238
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... OMIM:128230
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Cerebellar vermis hypoplasia, Tremor, Cerebellar atrophy, Gait disturbance, Ga... OMIM:618090
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:607565
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar ... OMIM:614831
Parkinson Disease 17
Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Primary Dystonia, Dyt2 Type
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener... ORPHA:99657
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Huntington Disease-Like 1
Abnormal posturing, Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Cerebella... ORPHA:157941
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Action myoclonus, Myocl... OMIM:616230
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
Spinocerebellar Ataxia Type 26
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Pr... ORPHA:101112
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Cogwheel rigidity... OMIM:607346
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Myoclonus, Familial, 2
Limb myoclonus, Dystonia OMIM:618364
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cerebellar atrophy, Action tremor, Dystonia, ... OMIM:619738
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Cerebellar atrophy, Gait ata... OMIM:615362
Spinocerebellar Ataxia 46
Limb ataxia, Positive Romberg sign, Cerebellar atrophy, Gait ataxia, Dysmetria OMIM:617770
Spinocerebellar Ataxia 27B, Late-Onset
Limb ataxia, Postural tremor, Cerebellar atrophy, Gait ataxia OMIM:620174
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Cerebellar atrophy, Gait disturbance, Ac... OMIM:300423
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Cerebellar atrophy, Gait ataxia, Dystonia, Ataxia, Parkinsonism, D... OMIM:618093
X-Linked Progressive Cerebellar Ataxia
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Cerebellar vermis ... ORPHA:1175
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Cerebellar atrophy, Craniofacial dystonia, Limb dyston... ORPHA:71517
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Spinocerebellar Ataxia 4
Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Cerebellar atrophy, Limb... OMIM:600223
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Gait ataxia, Abnormal cerebellum morphology, Hemiparesis, Myocl... OMIM:123400
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor OMIM:617863
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Impaired tandem gait, Dysme... OMIM:619028
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor OMIM:182980
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of ambulation, Dysmetria OMIM:617916
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia, Unsteady gait ORPHA:284271
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Cerebellar atrophy, Gait distu... ORPHA:98764
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Postural tremor ORPHA:210571
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s... OMIM:617225
Spinocerebellar Ataxia Type 2
Cerebellar Purkinje layer atrophy, Progressive cerebellar ataxia, Fasciculations, Chorea, Gait at... ORPHA:98756
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Female infertility OMIM:617442
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Cerebellar atrophy, ... OMIM:616795
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Geniospasm 1
Chin myoclonus OMIM:190100
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Cerebellar dentate... OMIM:213600
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus OMIM:616494
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor OMIM:618075
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Inferior cerebellar vermis hypoplasia, Broad-based gait, Cerebellar ataxia associated with quadru... OMIM:224050
Dandy-Walker Syndrome
Hydrocephalus, Truncal ataxia, Dilated fourth ventricle, Partial absence of cerebellar vermis, Ag... OMIM:220200
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Cerebellar atrophy, Limb tremor, Ataxia, Loss of ambulation, Myoclonus, Clums... OMIM:256731
Chorea, Benign Familial
Chorea OMIM:215450
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Inability to walk, Spastic paraplegia, Short stature, Periventricular nodular hete... OMIM:618572
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Developmental And Epileptic Encephalopathy 11
Spastic tetraplegia, Hyperkinetic movements OMIM:613721
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Cerebellar atrophy, Titubation, Unsteady gait, Ataxia, Dysmetria OMIM:619405
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Cerebellar atrophy, Gait a... OMIM:605361
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Ataxia, Sensory, 1, Autosomal Dominant
Abnormal vestibulo-ocular reflex, Babinski sign, Gait instability, worse in the dark, Impaired di... OMIM:608984
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Oculomotor apraxia, Cerebellar vermis atrophy, Incoordination, Truncal ataxia, Cer... OMIM:616204
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Upper motor neuron dy... ORPHA:95434
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Impaired proprioception... ORPHA:251282
Spinocerebellar Ataxia 26
Limb ataxia, Truncal ataxia, Incoordination, Cerebellar atrophy, Gait ataxia OMIM:609306
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech OMIM:609161
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Inability to walk, Spasticity, Tremor, Dystonia, Ataxia, Spastic tetr... ORPHA:599373
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Limb dystonia, Obesity, Ataxia, Intrauterine growth retardation, Cerebellar hypoplasia OMIM:620270
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism OMIM:605909
Mast Syndrome
Babinski sign, Hypertonia, Apraxia, Incoordination, Dysdiadochokinesis, Athetosis, Cerebellar atr... OMIM:248900
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Cerebellar vermis atrophy, Spast... OMIM:616719
Spinocerebellar Ataxia Type 29
Oculomotor apraxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxi... ORPHA:208513
Spinocerebellar Ataxia 44
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Frequent falls, Gait ataxia, Ataxia, Dysmetria OMIM:617691
Spinocerebellar Ataxia, Autosomal Recessive 26
Limb ataxia, Oculomotor apraxia, Impaired distal proprioception, Positive Romberg sign, Dysdiadoc... OMIM:617633
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Spinocerebellar Ataxia 49
Babinski sign, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Cerebellar atrop... OMIM:619806
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships OMIM:608631
Leukoencephalopathy, Progressive, With Ovarian Failure
Babinski sign, Apraxia, Spasticity, Cerebellar atrophy, Dystonia, Ataxia, Lateral ventricle dilat... OMIM:615889
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Short stature, Ataxia, Dysmetria OMIM:276880
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Involuntary movements OMIM:616939
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Truncal ataxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy... ORPHA:352403
Kerion Celsi
Lymphadenopathy ORPHA:499
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Facial Onset Sensory And Motor Neuronopathy
Fasciculations ORPHA:85162
Band Heterotopia
Polymicrogyria, Spasticity, Gray matter heterotopia, Agenesis of corpus callosum, Lateral ventric... OMIM:600348
Glutathionuria
Dysdiadochokinesis, Tremor, Gray matter heterotopia, Constipation, Action tremor, Agenesis of cor... OMIM:231950
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Cerebellar atrophy, Gait atax... OMIM:609270
Progressive Myoclonic Epilepsy With Dystonia
Abnormality of extrapyramidal motor function, Hemiparesis, Dystonia, Diffuse cerebellar atrophy, ... ORPHA:352596
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Babinski sign, Positive Romberg sign, Spasticity, Cerebellar atrophy, Dystonia, Ataxia, Loss of a... OMIM:618088
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he... ORPHA:543
Combined Saposin Deficiency
Fasciculations, Babinski sign, Hyperkinetic movements, Myoclonus OMIM:611721
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia OMIM:614229
Lissencephaly 1
Agyria, Spastic tetraparesis, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, ... OMIM:607432
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Cerebellar atrophy, Dystonia, Myoclonus, Abnormal pyramida... ORPHA:139485
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Chorea, Athetosis, Involuntary movements, Dystonia ORPHA:98809
Corticobasal Syndrome
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... ORPHA:454887
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Cerebellar... ORPHA:98773
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Chiari type I malformation, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... OMIM:602124
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Cerebellar hypop... OMIM:617810
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Poor motor... ORPHA:1170
Spinocerebellar Ataxia 5
Limb ataxia, Broad-based gait, Incoordination, Dysdiadochokinesis, Cerebellar atrophy, Upper moto... OMIM:600224
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Spinocerebellar Ataxia Type 17
Cerebellar Purkinje layer atrophy, Torticollis, Writer's cramp, Chorea, Spasticity, Cerebellar at... ORPHA:98759
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401835
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Behr Syndrome
Babinski sign, Truncal ataxia, Cerebellar vermis atrophy, Tremor, Cerebellar atrophy, Progressive... OMIM:210000
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus ORPHA:86814
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Lateral ventricle ... ORPHA:306669
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Gait ataxia, Head tremor, Rigidity, Dyston... ORPHA:101109
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Spasticity, Agyria, Gray matter heterotopia, Feeding difficulties, Pachygyria ORPHA:1084
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... OMIM:618433
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Paroxysmal dystonia, Writer's cramp OMIM:608105
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:620482
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Titubation, Head tremor, Gait ataxia, Somatic sensory dysfunction, Dysmetria ORPHA:98771
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Myoclonus OMIM:615400
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Hypertonia, Lower limb spasticity, Fasciculations, Spastic tetraparesis, Cerebella... OMIM:618598
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Cerebellar vermis atrophy, Chorea, Gait ataxia, Ataxia, Dysmetria OMIM:618501
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Failure to thrive, Periventricular nodular heterotopia, Tetraparesis, Periventricular heterotopia OMIM:608097
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Spasticity, Athetosis, Cerebellar atrophy, Involuntary movements,... OMIM:617493
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Spinocerebellar Ataxia, Autosomal Recessive 32
Bradykinesia, Limb ataxia, Torticollis, Cerebellar atrophy, Gait ataxia, Limb myoclonus, Somatic ... OMIM:619862
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Growth delay, Ataxia, Small for gestational age OMIM:278780
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Chorea, Incoordination, Lingual dystonia, Poor motor coordination, Frequent falls,... OMIM:500003
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Babinski sign, Torticollis, Cerebellar vermis atrophy, Frequent falls, Limb dystonia, Dilated fou... OMIM:619054
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Tremor, Nystagmus, And Duodenal Ulcer
Abnormal cerebellum morphology, Kinetic tremor, Tremor OMIM:190310
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Chorea, Cerebellar atroph... ORPHA:248111
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Limb ataxia, Torticollis, Truncal ataxia, Spasticity, Cerebellar atrophy, Limb dystonia, Head tit... OMIM:617560
Huntington Disease
Bradykinesia, Chorea, Cerebellar atrophy, Gait ataxia, Rigidity OMIM:143100
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Spinocerebellar Ataxia 28
Limb ataxia, Babinski sign, Spasticity, Cerebellar atrophy, Gait ataxia, Lower limb hypertonia, D... OMIM:610246
Developmental And Epileptic Encephalopathy 69
Spastic tetraplegia, Hyperkinetic movements, Dystonia, Myoclonus OMIM:618285
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Spasticity, Hypoplasia of the pons, Myoclonus, Cerebellar hypoplasia, Loss of Purkinj... OMIM:225753
Epilepsy, Progressive Myoclonic, 9
Frequent falls, Action myoclonus, Gait ataxia, Agenesis of corpus callosum, Myoclonus OMIM:616540
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Craniofacial dystonia, Head trem... ORPHA:420492
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Spinocerebellar Ataxia 34
Limb ataxia, Fasciculations, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Int... OMIM:133190
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Ataxia-Telangiectasia-Like Disorder
Oculomotor apraxia, Cerebellar vermis hypoplasia, Chorea, Dysdiadochokinesis, Cerebellar atrophy,... ORPHA:251347
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Parkinsonism OMIM:128235
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Growth delay, Short stature, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Cerebellar atrophy, Abnormal p... OMIM:608768
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Abnormal cerebellar peduncle mo... ORPHA:98
Intellectual Developmental Disorder With Autism And Speech Delay
Reduced social reciprocity OMIM:606053
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Cerebellar atrophy, Ataxia, Myoclonus, Spastic tetraplegia, Cerebellar hypoplasia OMIM:619971
Spastic Paraplegia 85, Autosomal Recessive
Babinski sign, Impaired proprioception, Torticollis, Impaired temperature sensation, Lower limb s... OMIM:619686
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Ankle clonus, Upper limb dysmetria, Impaired ... OMIM:614409
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Broad-based gait, Chorea, Positive Romberg sign, Cerebellar a... OMIM:607136
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Neuroectodermal Melanolysosomal Disease
Hypertonia, Spasticity, Tremor, Rigidity, Ataxia, Cerebellar hypoplasia, Abnormal cerebellar verm... ORPHA:33445
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Microlissencephaly
Hypertonia, Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissen... ORPHA:1083
Rabies
Anorexia, Diarrhea, Cerebral palsy, Vocal cord paresis, Nausea and vomiting, Paresthesia ORPHA:770
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis ORPHA:329284
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Bradykinesia, Chorea, Cerebellar dentate nucleus calcification, Dystonia, Ataxia, Parkinsonism, A... OMIM:618317
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Lower limb spasticity, Sensory ataxia, Intention tremor, Gait ataxia, Impaired vibratory sensation OMIM:620221
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Short stature, Simplified gyral pattern, Intrauterine growth retardation, Perivent... OMIM:616171
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Frequent falls, Lower limb hypertonia, Myoclonus, S... ORPHA:254343
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Limb dystonia... ORPHA:216873
Gordon Holmes Syndrome
Chorea, Cerebellar atrophy, Ataxia OMIM:212840
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Fasciculations, Tongue fasciculations, Truncal ataxia, Head tremor, I... ORPHA:276198
Spinocerebellar Ataxia Type 19/22
Limb ataxia, Difficulty walking, Impaired vibration sensation at ankles, Broad-based gait, Trunca... ORPHA:98772
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Hyperkinetic movements, Oculogyric crisis, Chorea, Spasticity, Cerebellar atrophy, Dystonia, Myoc... OMIM:614254
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Dystonia, Myoclonus OMIM:619651
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Cerebellar atrophy, Poor fine motor coordination, Myoclonic spasms, D... ORPHA:79263
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Cerebellar atrophy, ... ORPHA:93952
Valinemia
Hyperkinetic movements OMIM:277100
Spastic Paraplegia 70, Autosomal Recessive
Fasciculations, Spasticity, Ankle clonus OMIM:620323
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Lactose Intolerance, Adult Type
Diarrhea, Abdominal pain, Lactose intolerance, Flatulence OMIM:223100
Glut1 Deficiency Syndrome 1
Babinski sign, Paroxysmal dystonia, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreo... OMIM:606777
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Spasticity, Cerebellar atrophy, ... OMIM:215470
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Cerebellar atrophy, Dystonia ORPHA:330050
Maternal Hyperthermia-Induced Birth Defects
Short stature, Abnormality of neuronal migration, Hypertonia, Intrauterine growth retardation ORPHA:2216
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Lateral... ORPHA:363654
Polymicrogyria Due To Tubb2B Mutation
Oromotor apraxia, Polymicrogyria, Gray matter heterotopia, Hemiparesis, Perisylvian polymicrogyri... ORPHA:300573
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Joubert Syndrome 25
Cerebellar hypoplasia, Ataxia, Oculomotor apraxia OMIM:616781
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... ORPHA:306692
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Spastic Paraplegia 39, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Gait disturbance, Ataxia, Progressive spastic paraplegia OMIM:612020
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Ataxia, Choreoath... OMIM:612438
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Babinski sign, Bradykinesia, Progressive extrapyramidal muscular rigidity, Ch... ORPHA:225147
Pontocerebellar Hypoplasia Type 4
Hypertonia, Olivopontocerebellar hypoplasia, Myoclonus ORPHA:166063
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Incoordination, Tremo... OMIM:302800
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Impaired distal pro... ORPHA:137898
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Polymicrogyria, Spastic tetraparesis, Gray matter heterotopia, Failure to thrive, Abn... OMIM:604317
Spastic Ataxia 5, Autosomal Recessive
Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Dystonia, Ataxia, Spastic... OMIM:614487
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Dyst... OMIM:617435
Spinocerebellar Ataxia 13
Limb ataxia, Progressive cerebellar ataxia, Limb dysmetria, Spasticity, Impaired distal vibration... OMIM:605259
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Symmetrical Thalamic Calcifications
Hypertonia, Spasticity, Failure to thrive, Abnormality of neuronal migration, Ataxia ORPHA:1314
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Tip-toe gait, Inability to walk, Spasticity, Frequent falls, Gait disturbance... ORPHA:216866
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ... OMIM:606703
Peroxisome Biogenesis Disorder 8B
Tip-toe gait, Babinski sign, Hypertonia, Lower limb spasticity, Cerebellar vermis atrophy, Spasti... OMIM:614877
Pontocerebellar Hypoplasia, Type 1A
Limb ataxia, Fasciculations, Tongue fasciculations, Hypoplasia of the pons, Hypoplasia of the ven... OMIM:607596
Spinocerebellar Ataxia 6
Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Incoordination, Truncal ataxia, ... OMIM:183086
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Distal sensory impairment, Impaired distal proprioception, Cerebellar atrophy, Ata... OMIM:607250
Spastic Ataxia 3, Autosomal Recessive
Cerebellar vermis atrophy, Spasticity, Cerebellar atrophy, Gait ataxia, Dystonia, Ataxia, Loss of... OMIM:611390
Ataxia-Telangiectasia-Like Disorder 1
Oculomotor apraxia, Lower limb spasticity, Chorea, Dysdiadochokinesis, Cerebellar atrophy, Freque... OMIM:604391
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Chorea, Truncal ataxia, Tremor, Cereb... OMIM:208920
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Truncal ataxia, Frequent falls, Gait ataxia, Dilated fourth ventricle, Intentio... OMIM:620208
Childhood Disintegrative Disorder
Motor deterioration, Progressive language deterioration, Reduced social reciprocity, Dementia, Me... ORPHA:168782
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Tremor, Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria OMIM:614867
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Gait imbalance, Spasticity, Cerebellar atrophy, Frequent falls, Gait ataxia, Gait di... OMIM:618369
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus ORPHA:324588
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spastic dysarthria, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Dysto... ORPHA:313772
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Cerebellar atrophy, I... ORPHA:284289
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Hypertonia, Myoclonus OMIM:610992
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Frequent falls, Ataxia, Myoclonus, Choreoathetosis OMIM:301020
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Alexander Disease
Babinski sign, Hydrocephalus, Abnormal dentate nucleus morphology, Spasticity, Ataxia, Dysmetria,... OMIM:203450
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Oculogyric crisis, Abnormality of extrapyramida... ORPHA:13
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Spasticity, Tremor, Dystonia OMIM:304700
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Basal Ganglia Calcification, Idiopathic, 5
Cerebellar calcifications, Chorea, Athetosis, Parkinsonism, Postural tremor, Hand tremor OMIM:615483
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Tremor, Ataxia OMIM:618951
Ataxia-Pancytopenia Syndrome
Babinski sign, Distal sensory impairment, Impaired vibration sensation in the lower limbs, Cerebe... OMIM:159550
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Hoffmann sign, Babinski sign, Fasciculations OMIM:620402
Autosomal Recessive Spastic Paraplegia Type 39
Babinski sign, Lower limb spasticity, Cerebellar atrophy, Gait ataxia, Spastic paraplegia ORPHA:139480
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Progressive Myoclonic Epilepsy Type 3
Progressive cerebellar ataxia, Cerebellar atrophy, Progressive truncal ataxia, Myoclonus, Limb my... ORPHA:263516
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Dystonia, Ataxia, Extrapyramidal dyskinesia... ORPHA:71277
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Cere... ORPHA:529665
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Tremor, Cerebellar atrophy, Antalgic gait, Tetraparesis OMIM:620546
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Familial Paroxysmal Ataxia
Torticollis, Cerebellar vermis atrophy, Dystonia, Ataxia, Hemiplegia ORPHA:97
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Pontocerebellar atrophy, Oculomotor apraxia, Spina bifida occulta, Incoordinati... OMIM:618060
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, O... ORPHA:370022
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia ORPHA:101075
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Rigidity, Dystonia, Parkinsonism,... OMIM:615528
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations OMIM:271200
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Ataxia, Cerebellar atrophy, Inability to walk, Gait ataxia OMIM:617915
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphol... ORPHA:101070
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Babinski sign, Impaired proprioception, Impaired vibration sensation at ankles, Lo... OMIM:615491
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Parkinsonism With Polyneuropathy
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:619279
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Dystonia, Myoclonus, Laryngeal dystonia OMIM:616398
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Lissencephaly 6 With Microcephaly
Limb hypertonia, Polymicrogyria, Microlissencephaly, Spasticity, Simplified gyral pattern, Pachyg... OMIM:616212
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Spinocerebellar Ataxia, Autosomal Recessive 28
Truncal titubation, Cerebellar vermis hypoplasia, Poor fine motor coordination, Gait ataxia, Abno... OMIM:618800
Baker-Gordon Syndrome
Hyperkinetic movements, Athetoid cerebral palsy, Involuntary movements, Dystonia, Ataxia, Choreoa... OMIM:618218
Spinocerebellar Ataxia 36
Limb ataxia, Babinski sign, Hypertonia, Fasciculations, Tongue fasciculations, Incoordination, Tr... OMIM:614153
Dystonia 16
Bradykinesia, Retrocollis, Limb dystonia, Involuntary movements, Abnormal pyramidal sign, Parkins... OMIM:612067
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Abnormality of neuronal migration, 4-layered lissencephaly, Dysphagia, Agenes... ORPHA:89844
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Babinski sign, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of ambulation, Post... OMIM:607694
Lissencephaly, X-Linked, 2
Diarrhea, Spasticity, Pachygyria, Agenesis of corpus callosum, Lissencephaly, Feeding difficultie... OMIM:300215
Hypermanganesemia With Dystonia 2
Tip-toe gait, Babinski sign, Bradykinesia, Oromandibular dystonia, Generalized dystonia, Scissor ... OMIM:617013
Spinocerebellar Ataxia 21
Limb ataxia, Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor functio... OMIM:607454
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Gait disturbance, Cerebellar dentate nucleus calcification, Dystonia, Ataxia,... ORPHA:542310
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Gait ... OMIM:137440
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Generalized dystonia, Oculogyric crisis, Abnormality of extrapyramid... ORPHA:101150
Cataract-Ataxia-Deafness Syndrome
Short stature, Hypertonia, Tremor, Ataxia ORPHA:1368
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Loss of ambulation, Ataxia, Myoclonus OMIM:614018
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Hypertonia, Tremor, Hemiparesis, Obesity, Feeding difficulties, Impai... OMIM:619737
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Tremor, Gait disturbance, Decreased motor nerve conduction... ORPHA:101077
Classic Galactosemia
Delayed puberty, Premature ovarian insufficiency, Male infertility, Gait imbalance, Secondary ame... ORPHA:79239
X-Linked Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with favorable response to d... ORPHA:53351
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism OMIM:260540
4H Leukodystrophy
Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Upp... ORPHA:289494
Sandhoff Disease, Juvenile Form
Diarrhea, Incoordination, Fasciculations, Abnormality of extrapyramidal motor function, Gait dist... ORPHA:309162
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Hypertonia, Distal sen... OMIM:609260
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:616710
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Myoclonus OMIM:618357
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i... ORPHA:35122
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia OMIM:613909
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ... OMIM:602450
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Impaired distal v... OMIM:300623
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ataxia OMIM:618709
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia ORPHA:101078
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Tremor, Cerebellar atrophy, ... OMIM:616505
Spinocerebellar Ataxia Type 32
Male infertility, Progressive cerebellar ataxia, Testicular atrophy, Azoospermia ORPHA:276183
Hsd10 Disease
Optic atrophy, Postnatal growth retardation, Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonu... ORPHA:391417
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Spinocerebellar Ataxia 10
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Progressive cerebellar ataxia, Dis... OMIM:603516
Angioedema, Hereditary, 8
Diarrhea, Abdominal pain, Episodic vomiting OMIM:619367
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Waddling gait, Limb myoclonus, F... ORPHA:2590
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkinsonism, Spastic par... OMIM:300894
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Spinocerebellar Ataxia Type 8
Bradykinesia, Limb ataxia, Spastic dysarthria, Cerebellar vermis atrophy, Spasticity, Cerebellar ... ORPHA:98760
Spinocerebellar Ataxia Type 10
Babinski sign, Progressive cerebellar ataxia, Gait imbalance, Lower limb spasticity, Dysdiadochok... ORPHA:98761
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Ataxia, Myoclonus OMIM:545000
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt... ORPHA:457083
Subependymal Nodular Heterotopia
Polymicrogyria, Limb myoclonus, Gray matter heterotopia, Abnormality of neuronal migration, Acrop... ORPHA:101030
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Abnormal autonomic... OMIM:618049
Amyotrophic Lateral Sclerosis 28
Chaddock reflex, Babinski sign, Fasciculations OMIM:620452
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Developmental And Epileptic Encephalopathy 92
Spasticity, Dystonia, Ataxia, Myoclonus OMIM:617829
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Intestinal Dysmotility Syndrome
Abdominal distention, Diarrhea, Projectile vomiting, Decreased intestinal transit time, Failure t... OMIM:620045
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Spasticity, Decreased body we... OMIM:614833
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,... OMIM:606159
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Cerebellar atrophy, Ataxia OMIM:271980
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Myoclonus OMIM:619191
Spinocerebellar Ataxia 27A
Limb ataxia, Abnormal vestibulo-ocular reflex, Cerebellar atrophy, Gait ataxia, Postural tremor, ... OMIM:193003
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia, Weight loss OMIM:606438
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Caribbean Parkinsonism
Bradykinesia, Apraxia, Action tremor, Rigidity, Dystonia, Parkinsonism, Myoclonus, Weakness due t... ORPHA:97355
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Microcephaly, Amish Type
Limb hypertonia, Cerebellar vermis hypoplasia, Myoclonus, Cerebellar hypoplasia, Partial agenesis... OMIM:607196
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Dystonia, Ataxia, Myoclonus, Spastic diplegia OMIM:619065
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Ataxia-Oculomotor Apraxia 3
Distal sensory impairment, Oculomotor apraxia, Cerebellar atrophy, Frequent falls, Ataxia, Dysmetria OMIM:615217
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements ORPHA:397933
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Paraparesis, Ataxia, Myoclonus, Spastic paraparesis, Choreoat... ORPHA:726
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Spinocerebellar Ataxia Type 13
Bradykinesia, Limb ataxia, Difficulty walking, Torticollis, Impaired distal vibration sensation, ... ORPHA:98768
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Episodic ataxia, Dystonia, Agenesis of corpus callosum, Myoclonus, Lethargy, Choreoatheto... OMIM:312170
Developmental And Epileptic Encephalopathy 16
Abnormality of extrapyramidal motor function, Hemiparesis, Dystonia, Myoclonus OMIM:615338
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Dysdiadochokinesis, Gait ataxi... OMIM:614381
Pyruvate Dehydrogenase E1-Beta Deficiency
Decreased body weight, Ataxia, Pachygyria, Agenesis of corpus callosum, Intrauterine growth retar... ORPHA:255138
Mepan Syndrome
Axial dystonia, Chorea, Spasticity, Cerebellar atrophy, Craniofacial dystonia, Limb dystonia, Dys... ORPHA:508093
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor... OMIM:261640
Gerstmann-Straussler-Scheinker Syndrome
Abnormal cerebellum morphology, Abnormality of extrapyramidal motor function, Limb myoclonus, Gai... ORPHA:356
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Tremor, Spastic tetraparesis, Broad-based gait OMIM:619470
Developmental And Epileptic Encephalopathy 27
Chorea, Spasticity, Dystonia, Myoclonus OMIM:616139
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Abnormality of extrapyramidal motor function, Ataxia, Myoclonus OMIM:204300
Alexander Disease Type I
Hydrocephalus, Spasticity, Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Palatal tremor ORPHA:363717
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Trehalase Deficiency
Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Malabsorption ORPHA:103909
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Waddling gait, Inability to walk OMIM:616269
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Babinski sign, Distal sensory impairment, Spasticity, Cerebellar atrophy, Intention tremor, Ataxi... OMIM:612674
Multiple System Atrophy
Bradykinesia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, A... ORPHA:102
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Migraine, Familial Hemiplegic, 2
Apraxia, Tremor, Cerebellar atrophy, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysme... OMIM:602481
Developmental And Epileptic Encephalopathy 40
Spasticity, Choreoathetosis, Spastic tetraparesis, Myoclonus OMIM:617065
Spinocerebellar Ataxia Type 1
Bradykinesia, Impaired proprioception, Progressive cerebellar ataxia, Gait imbalance, Fasciculati... ORPHA:98755
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturba... ORPHA:99014
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Pelizaeus-Merzbacher Disease, Classic Form
Difficulty walking, Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Spastic ... ORPHA:280219
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Choreoathetosis, Hyperkinetic movements, Dystonia, Myoclonus OMIM:618497
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Myoclonus, Abnormal pyramidal sign, Dysmetria OMIM:619780
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Fasciculations OMIM:615575
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Hirschsprung Disease
Intestinal obstruction, Aganglionic megacolon, Diarrhea, Functional abnormality of the gastrointe... ORPHA:388
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnor... ORPHA:54251
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Head tremor, Dystonia, Myoclonus, Hand tremor OMIM:619724
Machado-Joseph Disease
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula... OMIM:109150
Spermatogenic Failure 77
Male infertility, Oligozoospermia, Multiflagellar spermatozoa, Azoospermia OMIM:620103
Intellectual Developmental Disorder, X-Linked 104
Frontal upsweep of hair, Spasticity, Tremor, Ataxia OMIM:300983
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Spasticity, Tremor, Rigidity, Cerebral amyloid angiopathy OMIM:176500
Multiple System Atrophy, Cerebellar Type
Bradykinesia, Limb ataxia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Rest... ORPHA:227510
Spinocerebellar Ataxia Type 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Resting tremor, Cerebellar v... ORPHA:458803
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Babinski sign, Gait imbalance, Oculomotor apraxia, Cerebellar vermis atrophy, Head tremor, Dyston... ORPHA:64753
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Cerebellar cortical atrophy, Resting t... ORPHA:247234
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Limb ataxia, Impaired pain sensation, Cerebellar vermis atrophy, Positive Romberg sign, Cerebella... OMIM:614575
Poretti-Boltshauser Syndrome
Cerebellar cyst, Oculomotor apraxia, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cere... OMIM:615960
Brunner Syndrome
Diarrhea, Kinetic tremor OMIM:300615
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... ORPHA:99750
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Growth delay, Rigidity,... ORPHA:70594
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Hepatic fibrosis OMIM:613313
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Limb tremor, Hypertonia, Myoclonus OMIM:300699
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Progressive spastic paraplegia ORPHA:306511
Ataxia With Vitamin E Deficiency
Impaired proprioception, Progressive cerebellar ataxia, Positive Romberg sign, Dysdiadochokinesis... OMIM:277460
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G... OMIM:618877
Familial Infantile Bilateral Striatal Necrosis
Babinski sign, Hypertonia, Spasticity, Spastic tetraparesis, Frequent falls, Gait ataxia, Cogwhee... ORPHA:225154
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Myoclonus OMIM:204500
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased distal sensory nerve action potential, Decreased sensory nerve conduction velocity, Dec... ORPHA:206594
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ... ORPHA:83469
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... OMIM:209950
Ceroid Lipofuscinosis, Neuronal, 3
Abnormal cerebellum morphology, Abnormality of extrapyramidal motor function, Parkinsonism, Myocl... OMIM:204200
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Broad-based gait, Tremor, Spastic paraplegia, Failure to thrive ORPHA:477673
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park... OMIM:619725
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti... OMIM:606693
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Abnormality of neuronal migration ORPHA:1980
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Limb fasciculations, Distal sensory impairment, Inability to... ORPHA:90117
Pelizaeus-Merzbacher Disease
Generalized dystonia, Inability to walk, Writer's cramp, Broad-based gait, Cerebellar vermis atro... OMIM:312080
Gillespie Syndrome
Cerebellar atrophy, Ataxia, Postural tremor, Cerebellar hypoplasia, Slurred speech OMIM:206700
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rig... ORPHA:240085
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, A... ORPHA:98933
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss... ORPHA:101
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Babinski sign, Progressive cerebellar ataxia, Dysdiadochokinesis, Intention tremor, Gait ataxia, ... ORPHA:504476
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Atypical Rett Syndrome
Pill-rolling tremor, Inability to walk, Apraxia, Impaired pain sensation, Spasticity, Tremor, Abn... ORPHA:3095
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Pontocerebellar atrophy, Impaired proprioception, Oculomotor apraxia, Chorea, Tremor... OMIM:606002
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Amyotrophic Lateral Sclerosis 18
Fasciculations, Spasticity OMIM:614808
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Oculomotor apraxia, Truncal ataxia, Short stature, Unsteady gait, Simplified g... OMIM:618273
Intellectual Developmental Disorder, X-Linked 12
Hyperkinetic movements, Cerebellar vermis hypoplasia, Spasticity, Tremor, Abnormal cerebellum mor... OMIM:300957
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... ORPHA:352649
Foxg1 Syndrome
Hyperkinetic movements, Spasticity, Dystonia, Agenesis of corpus callosum, Myoclonus, Choreoathet... ORPHA:561854
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Developmental And Epileptic Encephalopathy 6B
Hyperkinetic movements, Chorea, Dystonia, Ataxia, Myoclonus, Choreoathetosis OMIM:619317
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Oromandibular dystonia, Generalized dystonia, Abnormality of extrapyramidal motor ... OMIM:614298
Chiari Malformation Type Ii
Gray matter heterotopia, Ataxia, Dysphagia, Agenesis of corpus callosum, Feeding difficulties, Op... OMIM:207950
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Inability to walk, Tremor, Ataxia, Cerebellar hypoplasia OMIM:619556
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Diarrhea, Cachexia, Gait ataxia, Vomiting, Failure to thrive, Feeding difficulties, Weight loss OMIM:612075
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Ataxia-Oculomotor Apraxia 4
Oculomotor apraxia, Tetraplegia, Cerebellar atrophy, Dystonia, Ataxia, Abnormal pyramidal sign, I... OMIM:616267
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Tremor, Gait disturbance, Rigidity, Ataxia, Decrease... OMIM:603472
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Babinski sign, Hypertonia, Dysdiadochokinesis, Cerebellar atrophy, Intention tremor, Ataxia, Myoc... OMIM:618356
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Cerebellar atrophy, Exaggerated startle ... OMIM:618056
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Apraxia, Spasticity, Spastic tetraparesis, Dystonia, Opisthotonus, Parkinsonism, Generalized dyst... OMIM:619653
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Hypergonadotropic hypogonadism, Intention tremor, Hemiparesis, Ataxia OMIM:614307
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Choreoathetosis OMIM:233910
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Spasticity, Impaired distal vibration sensation, Gait disturb... OMIM:616586
Continuous Spikes And Waves During Sleep
Clumsiness, Hyperkinetic movements, Speech apraxia, Dystonia ORPHA:725
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Folate Malabsorption, Hereditary
Diarrhea, Athetosis, Failure to thrive, Ataxia, Malabsorption, Feeding difficulties in infancy OMIM:229050
Peho-Like Syndrome
Cerebellar atrophy, Myoclonus OMIM:617507
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Mitochondrial Complex I Deficiency, Nuclear Type 19
Rigidity, Athetosis, Cerebellar atrophy, Myoclonus OMIM:618241
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism, Clumsiness, Postural tremor OMIM:619911
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Abnormal autonomic nervous system physiology, Pain insensitivity, Constipation OMIM:615548
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia ORPHA:48
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations OMIM:619141
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, ... ORPHA:254881
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Immunodeficiency 109 With Lymphoproliferation
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia OMIM:620282
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Fasciculations OMIM:606595
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Shuffling gait, Spast... OMIM:300055
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Tongue fasciculations, Tremor, Frequent falls, Myoclonus, Degeneration of ant... OMIM:159950
Galactosemia Iii
Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Difficulty walking, Limb hypertonia, Spasticity, Tremor, Involuntary movements, Sh... ORPHA:442835
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... OMIM:266600
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Upper limb spasticity, Hyperkinetic movements, Tremor ORPHA:457240
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Ring Chromosome Y Syndrome
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Female infertility, S... ORPHA:261529
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Fasciculations OMIM:608030
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Spinocerebellar Ataxia, Autosomal Recessive 31
Tremor, Dystonia, Ataxia, Cerebellar hypoplasia, Choreoathetosis OMIM:619422
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Failure to thrive, Feeding difficulties in infancy, Vomiting OMIM:606528
Neuroferritinopathy
Bradykinesia, Babinski sign, Writer's cramp, Leg dystonia, Resting tremor, Abnormal dentate nucle... ORPHA:157846
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly OMIM:620010
Joubert Syndrome 30
Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum OMIM:617622
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Babinski sign, Hyperkinetic movements, Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrop... OMIM:620089
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Myoclonus OMIM:254800
Oromandibular Dystonia
Hyperkinetic movements, Torticollis, Blepharospasm, Lingual dystonia, Limb dystonia, Generalized ... ORPHA:93958
Malonyl-Coa Decarboxylase Deficiency
Diarrhea, Abdominal pain, Vomiting, Constipation, Short stature, Chronic constipation, Pachygyria OMIM:248360
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Cachexia, Tremor, Facial palsy, Abnormal autonomic nervous sys... ORPHA:97229
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Spastic gait, Babinski sign, Paroxysmal dyskinesia, Cerebellar atrophy, Spastic paraplegia, Dysto... OMIM:620538
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Pontocerebellar atrophy, Lower limb spasticity, Oromotor apraxia, Spasticity, Parap... OMIM:617854
Phenylketonuria
Tremor, Ataxia, Lower limb spasticity ORPHA:716
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Isaacs Syndrome
Fasciculations ORPHA:84142
Late-Infantile/Juvenile Krabbe Disease
Acroparesthesia, Delayed brainstem auditory evoked response conduction time, Decreased nerve cond... ORPHA:206443
Cystathioninuria
Tremor ORPHA:212
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Truncal ataxia, Head titubation, Dystonia, Ataxia, Agenesis of corpus callosum, Myoclonus, Dysmetria OMIM:250620
Amyotrophic Lateral Sclerosis 5, Juvenile
Fasciculations, Babinski sign, Spasticity, Abnormal pyramidal sign OMIM:602099
Cog7-Cdg
Postnatal growth retardation, Diarrhea, Failure to thrive, Feeding difficulties, Small for gestat... ORPHA:79333
Episodic Ataxia Type 7
Hyperkinetic movements, Episodic ataxia ORPHA:209970
Alexander Disease Type Ii
Babinski sign, Spasticity, Abnormal medulla oblongata morphology, Rigidity, Ataxia, Spastic parap... ORPHA:363722
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Dystonia, Ataxi... ORPHA:96
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Glycine Encephalopathy 1
Agenesis of corpus callosum, Myoclonus OMIM:605899
Hemimegalencephaly
Optic atrophy, Polymicrogyria, Gray matter heterotopia, Hemiparesis, Abnormal neuron morphology, ... ORPHA:99802
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Tremor, Shuffling gait, Short stature, O... ORPHA:3077
Myoclonus, Intractable, Neonatal
Dandy-Walker malformation, Athetosis, Chorea, Myoclonus OMIM:617235
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Charcot-Marie-Tooth Disease And Deafness
Steppage gait, Distal sensory impairment, Tremor, Gait disturbance, Decreased motor nerve conduct... OMIM:118300
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Fasciculations, Tongue fasciculations OMIM:613435
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Tremor, Aplasia/Hypoplasia of the cerebellum, Gait disturbance ORPHA:1192
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:616531
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardiomegaly ORPHA:858
Spermatogenic Failure 14
Male infertility, Round spermatid arrest, Azoospermia OMIM:615842
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia, Loss of ambulation, Intrauterine growth retardation OMIM:615010
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Lower limb spasticity, Titubation, Dystonic gait, Ataxia, ... ORPHA:280210
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ... ORPHA:79301
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks OMIM:254770
Episodic Ataxia, Type 5
Truncal ataxia, Ataxia, Episodic ataxia, Myoclonus OMIM:613855
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Difficulty walking, Spastic dysarthria, Progressive cerebellar ataxia, Spinocerebellar atrophy, I... ORPHA:95433
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Fasciculations OMIM:137200
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia OMIM:618086
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Paroxysmal dyskinesia, Babinski sign, Chorea, Spasticity, Athetosis, Blepharospasm, Craniofacial ... OMIM:617282
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Chylomicron Retention Disease
Steatorrhea, Diarrhea, Vomiting, Growth delay, Failure to thrive, Malnutrition, Impaired vibrator... OMIM:246700
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Combined Oxidative Phosphorylation Deficiency 32
Inability to walk, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Choreoathetosis OMIM:617664
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Thick hair, Trunca... OMIM:617675
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism OMIM:602390
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Postnatal growth retardation, Inability to walk, Cerebellar vermis hy... ORPHA:357058
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Myopathy With Extrapyramidal Signs
Difficulty walking, Abnormality of extrapyramidal motor function, Chorea, Tremor, Frequent falls,... OMIM:615673
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus... OMIM:612953
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Machado-Joseph Disease Type 1
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276238
Machado-Joseph Disease Type 2
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276241
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Pyruvate Dehydrogenase Deficiency
Spasticity, Tremor, Cerebral palsy, Gait disturbance, Intrauterine growth retardation, Growth del... ORPHA:765
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Limb hypertonia, Tremor, Cerebellar atrophy, Athetosis, Dystonia, Ataxia, Spastic tet... OMIM:617710
Autosomal Recessive Spastic Paraplegia Type 75
Babinski sign, Spasticity, Titubation, Spastic paraplegia, Abnormal pyramidal sign, Impaired vibr... ORPHA:459056
Autosomal Recessive Ataxia, Beauce Type
Babinski sign, Lower limb spasticity, Fasciculations, Spasticity, Cerebellar atrophy, Upper motor... ORPHA:88644
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Babinski sign, Facial palsy, Short stature, Abnormality of neuronal migration, Pachygyria OMIM:608840
Congenital Disorder Of Glycosylation, Type In
Spasticity, Ataxia, Myoclonus OMIM:612015
Brain Small Vessel Disease 2
Polymicrogyria, Growth delay, Subcortical heterotopia, Spastic tetraplegia, Hemiplegia OMIM:614483
Coproporphyria, Hereditary
Respiratory paralysis, Diarrhea, Abdominal pain, Vomiting, Constipation OMIM:121300
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... OMIM:273250
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Ataxia, Athetosis OMIM:617106
Desmosterolosis
Hypertonia, Abnormal cortical gyration, Polymicrogyria, Spasticity, Growth delay, Failure to thri... ORPHA:35107
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Inferior cerebellar vermis hypoplasia, Limb hypertonia, Fasciculations, Tremor, Cerebellar atroph... OMIM:620327
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Saccharopinuria
Distal sensory impairment, Tremor, Gait ataxia, Short stature, Spastic diplegia ORPHA:3124
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Myoclonus OMIM:610090
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Gastroesophageal reflux, Cerebral palsy, Short stature, Failure to thrive, Colpoce... OMIM:619833
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Babinski sign, Hypertonia, Fasciculations, Incoordination, Gait ataxia, Ataxia, Abnormal pyramida... OMIM:616688
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Impaired distal vibration sensation, Gait ataxia, Action tremor, Head titubation, A... ORPHA:99027
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Hypospadias, Hypoplasia of penis, Ascites, Splenomegaly ORPHA:1046
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism ORPHA:178509
Parkinson Disease 8, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607060
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting OMIM:614265
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Amyotrophic Lateral Sclerosis 1
Fasciculations, Spasticity, Pseudobulbar paralysis OMIM:105400
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly OMIM:609981
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:619658
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar cyst, Hydrocephalus, Dandy-Walker malformation, Cerebellar dysplasia, Hypoplasia of th... OMIM:613153
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal sensory impairment OMIM:607734
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor OMIM:313200
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Enterocolitis, Vomiting OMIM:260005
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Childhood-Onset Spasticity With Hyperglycinemia
Babinski sign, Hypertonia, Spastic dysarthria, Progressive spasticity, Ataxia, Myoclonus, Spastic... ORPHA:401866
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Craniofacial dystonia, ... OMIM:607483
Crigler-Najjar Syndrome Type 1
Tremor ORPHA:79234
Aromatic L-Amino Acid Decarboxylase Deficiency
Babinski sign, Gastroesophageal reflux, Limb hypertonia, Diarrhea, Tremor, Constipation, Short st... ORPHA:35708
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Vici Syndrome
Optic atrophy, Gray matter heterotopia, Short stature, Feeding difficulties, Agenesis of corpus c... ORPHA:1493
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Reduced social reciprocity ORPHA:329249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Hydrocephalus, Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar hypoplasia OMIM:615181
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormality of extrapyramidal motor function, Spasticity, Hemiplegia/hemiparesis, Myoclonus, Abno... ORPHA:79279
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Developmental And Epileptic Encephalopathy 72
Hyperkinetic movements OMIM:618374
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ... ORPHA:277
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Truncal ataxia, Morning myoclonic jerks, Episodic ataxia, Myoclonus OMIM:607682
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly OMIM:214900
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Inability to wa... OMIM:218000
Pouchitis
Bowel urgency, Diarrhea, Abdominal pain, Clostridium difficile colitis, Bowel incontinence, Abdom... ORPHA:217067
Aceruloplasminemia
Limb ataxia, Akinesia, Torticollis, Abnormal dentate nucleus morphology, Chorea, Tremor, Blepharo... ORPHA:48818
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abdominal distention, Decreased sensory nerve conduction velocity, Gastroesophageal reflux, Diarr... ORPHA:298
Hereditary Central Diabetes Insipidus
Diarrhea, Weight loss, Vomiting, Growth delay ORPHA:30925
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Dystonia, Ataxia, Myoclonus OMIM:620094
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Slurred speech, Myoclonus ORPHA:3327
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl... OMIM:619151
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Tremor, Shuffling gait, Waddling gait, Loss of ambulation ORPHA:209335
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Developmental And Epileptic Encephalopathy 68
Spasticity, Myoclonus, Exaggerated startle response, Clonus OMIM:618201
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Spastic gait, Chaddock reflex, Impaired proprioception, Postnatal growth retardati... ORPHA:96180
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Hypoplasia of the pons, Dystonia, Agenesis of corpus callosum, Myoclonus... OMIM:617669
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares... ORPHA:282166
3-Hydroxyisobutyric Aciduria
Failure to thrive, Abnormality of neuronal migration OMIM:236795
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Spermatogenic Failure 13
Male infertility, Azoospermia OMIM:615841
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Myoclonus OMIM:609056
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools OMIM:619868
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Babinski sign, Lower limb spasticity, Fasciculations, Spasticity, Ankle clonus, Tetraparesis OMIM:613954
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogo... ORPHA:848
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Myoclonic Epilepsy Of Infancy
Hemiplegia, Poor hand-eye coordination, Poor motor coordination, Myoclonus ORPHA:86909
Alzheimer Disease 3
Babinski sign, Apraxia, Optic ataxia, Abnormality of extrapyramidal motor function, Spastic tetra... OMIM:607822
Developmental And Epileptic Encephalopathy 23
Hypoplasia of the pons, Myoclonus OMIM:615859
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Progressive cerebellar ataxia, Apraxia, Fasciculations, Abnormality of extrapyrami... ORPHA:275872
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Diarrhea, Spasticity, Gait disturbance, Vomiting, Short stature, Failure to thrive, Growth delay,... OMIM:250940
Ataxia-Telangiectasia
Premature graying of hair, Delayed puberty, Hypopigmentation of hair, Spasticity, Tremor, Gait di... ORPHA:100
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Spinocerebellar Ataxia 1
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Spinocerebellar atrophy, Fasciculation... OMIM:164400
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Spontaneous Periodic Hypothermia
Diarrhea, Tremor, Gait disturbance, Ataxia, Nausea and vomiting ORPHA:29822
Mohr-Tranebjaerg Syndrome
Optic atrophy, Babinski sign, Oromandibular dystonia, Generalized dystonia, Inability to walk, Ap... ORPHA:52368
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Ataxia, Myoclonus OMIM:607876
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Type II lissencephaly, Gray matter heterotopia, Dysgyria ORPHA:352682
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Microtriplication 11Q24.1
Speech apraxia, Hyperkinetic movements, Retrocerebellar cyst ORPHA:289522
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:613155
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid... ORPHA:240071
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Diarrhea, Abdominal pain, Optic nerve hypoplasia, Vomiting, Constipation, Feeding ... OMIM:613638
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Episodic vomiting, Diarrhea, Positive Romberg sign, Paraplegia, Truncal ataxia, Trem... OMIM:105210
Hypermanganesemia With Dystonia 1
Bradykinesia, Abnormality of extrapyramidal motor function, Poor fine motor coordination, Tremor,... OMIM:613280
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Fasciculations, Tetraplegia, Hand tremor OMIM:604484
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat... OMIM:616828
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Oligozoospermia ORPHA:3000
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Optic atrophy, Diarrhea, Short stature, Paresthesia ORPHA:49827
Lissencephaly 5
Optic atrophy, Type II lissencephaly, Gray matter heterotopia, Spastic paraplegia, Subcortical ba... OMIM:615191
Solitary Rectal Ulcer Syndrome
Intermittent diarrhea, Abdominal pain, Bloody diarrhea, Decreased body weight, Episodic abdominal... ORPHA:209964
Cap Polyposis
Abdominal distention, Diarrhea, Abdominal pain, Constipation, Hematochezia, Atrophic gastritis, W... ORPHA:160148
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Periventricular Nodular Heterotopia 7
Polymicrogyria, Gray matter heterotopia, Failure to thrive, Ataxia, Feeding difficulties, Periven... OMIM:617201
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervic... OMIM:614034
Attrv30M Amyloidosis
Diarrhea, Abnormal autonomic nervous system physiology, Weight loss, Constipation ORPHA:85447
3-Methylglutaconic Aciduria, Type Viib
Hyperkinetic movements, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Opisthotonus, M... OMIM:616271
Mitochondrial Complex I Deficiency, Nuclear Type 31
Dysmetria, Myoclonus OMIM:618251
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Gray matter heterot... ORPHA:370959
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Myoclonus OMIM:612899
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Impaired tactile sensation, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:619092
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Diarrhea, Paraplegia, Reye syndrome-like episodes, Vomiting, Nausea, Poor appetite, Failure to th... ORPHA:927
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Incoordination, Poor fine motor coordination, Tremor, Ataxia ORPHA:36387
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili... ORPHA:1414
Severe Neurodegenerative Syndrome With Lipodystrophy
Spasticity, Tremor, Poor motor coordination, Limb dystonia, Gait ataxia, Ataxia, Generalized hirs... ORPHA:363400
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Abdominal pain, Malabsorption OMIM:222900
Diarrhea 9
Diarrhea, Failure to thrive OMIM:618168
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Babinski sign, Spastic dysarthria, Abnormality of pain sensation, Falls, Impaired v... ORPHA:447753
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Short stature, Failure to thrive, Growth delay, Intrauterine growth retardation OMIM:617744
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Ataxia, Myoclonus OMIM:256730
Cerebral Palsy, Spastic Quadriplegic, 3
Spasticity, Gray matter heterotopia, Dysphagia, Abnormal pyramidal sign, Spastic tetraplegia, Spa... OMIM:617008
Diarrhea 7, Protein-Losing Enteropathy Type
Diarrhea, Abdominal colic, Failure to thrive, Vomiting OMIM:615863
Congenital Muscular Dystrophy Without Intellectual Disability
Tip-toe gait, Difficulty walking, Facial diplegia, Gray matter heterotopia, Frequent falls, Pachy... ORPHA:370980
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Short attention span, Abnormal social behavior ORPHA:444002
Machado-Joseph Disease Type 3
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276244
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Chronic diarrhea, Growth delay, Failure to thrive, Fat malabsorption OMIM:613291
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Fasciculations, Impaired pain sensation, Tremor, Impaired distal ... OMIM:619574
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Hereditary Hyperekplexia
Hypertonia, Fasciculations, Spasticity, Rigidity, Ataxia, Myoclonus ORPHA:3197
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Thyrocerebroretinal Syndrome
Ataxia, Slurred speech, Myoclonus OMIM:274240
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Juvenile Absence Epilepsy
Myoclonus ORPHA:1941
Combined Oxidative Phosphorylation Deficiency 27
Chorea, Cerebellar atrophy, Dystonia, Opisthotonus, Myoclonus, Cerebellar hypoplasia, Tetraparesis OMIM:616672
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia, Weight loss OMIM:191390
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia... OMIM:615530
Developmental And Epileptic Encephalopathy 54
Myoclonus OMIM:617391
Jaberi-Elahi Syndrome
Inability to walk, Broad-based gait, Appendicular spasticity, Dandy-Walker malformation, Cerebell... OMIM:617988
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypertonia, Cerebellar vermis hypoplasia, Spastic tetraparesis, Lateral ventricle dilatation, Myo... ORPHA:284417
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Optic Atrophy 11
Hyperkinetic movements, Athetosis, Gait apraxia, Ataxia, Cerebellar hypoplasia, Dysmetria OMIM:617302
Leukoencephalopathy With Ataxia
Limb ataxia, Action tremor, Gait ataxia OMIM:615651
Ethylmalonic Encephalopathy
Diarrhea, Abnormality of extrapyramidal motor function, Failure to thrive, Ataxia, Abnormal pyram... ORPHA:51188
Chronic Diarrhea Due To Glucoamylase Deficiency
Abdominal distention, Dyspepsia, Chronic diarrhea, Abdominal pain, Vomiting, Nausea, Malabsorption ORPHA:103907
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Gray matter heterotopia, Colpocephaly, Simplified gyral pattern, Agenesis of corpu... OMIM:615219
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Co... OMIM:311510
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly ORPHA:75234
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno... ORPHA:381
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp... OMIM:618935
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Sneddon Syndrome
Chorea, Hemiparesis, Tremor ORPHA:820
Tularemia
Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr... ORPHA:3392
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Myoclonus OMIM:619060
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Amyotrophy, Monomelic
Fasciculations OMIM:602440
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Apraxia, Myoclonus OMIM:618193
Early Myoclonic Encephalopathy
Myoclonus ORPHA:1935
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ... OMIM:619802
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis OMIM:300635
Pontocerebellar Hypoplasia, Type 1D
Fasciculations, Tongue fasciculations, Spasticity, Cerebellar atrophy OMIM:618065
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Perry Syndrome
Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss, Short stepped shuf... OMIM:168605
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Immunodeficiency, Common Variable, 11
Crohn's disease, Mucoid diarrhea, Growth delay, Failure to thrive, Inflammation of the large inte... OMIM:615767
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Abnormality of extrapyramidal motor function, Spasticity, Upper motor neuron dysfu... ORPHA:204
Secondary Short Bowel Syndrome
Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,... ORPHA:95427
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Secretory diarrhea, Inflammation of the large intestine OMIM:616868
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Ménétrier Disease
Anorexia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Giant hypertrophic gastritis, Abd... ORPHA:2494
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Fasciculations, Babinski sign, Lower limb spasticity OMIM:615290
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Babinski sign, Hypertonia, Spasticity, Cerebral palsy, Limb dystonia, Clonus, Opisthotonus, Later... OMIM:619847
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Blepharospasm, Limb myoclonus, Ataxia, Clumsiness ORPHA:352582
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
Joubert Syndrome With Renal Defect
Oculomotor apraxia, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Tremor, Gait dist... ORPHA:220497
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Myopathy, Myofibrillar, 1
Diarrhea, Facial palsy, Constipation OMIM:601419
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Myoclonus OMIM:619609
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Dandy-Walker malformation, Spasticity, Dilated fourth ventricle, Lateral ventricle di... ORPHA:3078
Aggressive Systemic Mastocytosis
Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Po... ORPHA:98850
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation... OMIM:602347
Radio-Tartaglia Syndrome
Gait imbalance, Gastroesophageal reflux, Tremor, Gray matter heterotopia, Constipation, Obesity, ... OMIM:619312
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Trichohepatoenteric Syndrome 2
Diarrhea, Chronic diarrhea, Bloody diarrhea, Failure to thrive, Intrauterine growth retardation, ... OMIM:614602
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged... OMIM:257200
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Vocal cord paralysis, Hypoplasia of the pons, Dystonia, Agenesis of corpus callosum, ... ORPHA:500144
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea, Growth delay OMIM:251850
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intermittent diarrhea, Distal sensory impairment, Gastroparesis, Intestinal pseudo-obstruction, D... OMIM:603041
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Myoclonus OMIM:619057
Hyperekplexia 4
Hypertonia, Myoclonus OMIM:618011
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Roifman Syndrome
Eosinophilia, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Wars2-Related Combined Oxidative Phosphorylation Defect
Difficulty walking, Limb hypertonia, Cerebellar vermis hypoplasia, Tremor, Cerebellar atrophy, At... ORPHA:572798
Pontocerebellar Hypoplasia, Type 7
Hypertonia, Oculomotor apraxia, Hydrocephalus, Tongue fasciculations, Spasticity, Hypoplasia of t... OMIM:614969
Hurler-Scheie Syndrome
Abnormality of the tonsils, Hepatomegaly, Splenomegaly ORPHA:93476
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
16P13.11 Microdeletion Syndrome
Hypertonia, Gastroesophageal reflux, Short stature, Abnormality of neuronal migration, Feeding di... ORPHA:261236
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hyperkinetic movements, Difficulty walking, Inability to walk, Chorea, Truncal ataxia, Tremor, Ce... OMIM:615356
Walker-Warburg Syndrome
Optic atrophy, Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Age... ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Agyria, Gray matter heterotopia, S... OMIM:614643
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Rigidity, Dystonia, Myoclonus OMIM:600795
Multifocal Motor Neuropathy
Fasciculations ORPHA:641
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Fasciculations OMIM:600882
Typhoid
Gastrointestinal hemorrhage, Hypertonia, Diarrhea, Abdominal pain, Tremor, Constipation, Ataxia ORPHA:99745
Joubert Syndrome 33
Splenomegaly OMIM:617767
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Babinski sign, Truncal ataxia, Spasticity, Dystonia, Ataxia, Myoclonus OMIM:252011
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:3162
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Myoclonus OMIM:604218
Adult Intestinal Botulism
Diarrhea, Diaphragmatic paralysis, Cerebral palsy ORPHA:178487
Central Diabetes Insipidus
Anorexia, Diarrhea, Failure to thrive, Weight loss, Nausea and vomiting ORPHA:178029
Huntington Disease
Bradykinesia, Babinski sign, Chorea, Poor fine motor coordination, Involuntary movements, Clonus,... ORPHA:399
Tay-Sachs Disease
Inability to walk, Ankle clonus, Fasciculations, Incoordination, Decerebrate rigidity, Tremor, Ce... ORPHA:845
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Facial-lingual fasciculations, Cerebellar vermis hypoplasia, Dandy-Wa... OMIM:617281
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor ORPHA:99965
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hypertonia, Hyperkinetic movements OMIM:236270
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Diarrhea 13
Vomiting, Failure to thrive, Secretory diarrhea OMIM:620357
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Diarrhea 6
Crohn's disease, Abdominal pain, Chronic diarrhea, Meteorism OMIM:614616
Congenital-Onset Steinert Myotonic Dystrophy
Encopresis, Gastroesophageal reflux, Diarrhea, Abdominal pain, Poor fine motor coordination, Decr... ORPHA:589821
Lactase Deficiency, Congenital
Diarrhea, Lactose intolerance OMIM:223000
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Intention tremor, Action tremor, Gait ataxia, Unsteady gait, Myoclonus, Postu... OMIM:254900
Congenital Disorder Of Glycosylation, Type Iij
Limb hypertonia, Chronic diarrhea, Failure to thrive, Recurrent infection of the gastrointestinal... OMIM:613489
Encephalopathy, Ethylmalonic
Babinski sign, Abnormality of extrapyramidal motor function, Chronic diarrhea, Failure to thrive,... OMIM:602473
Cog4-Cdg
Intermittent diarrhea, Limb hypertonia, Growth delay, Recurrent infection of the gastrointestinal... ORPHA:263501
Nipah Virus Disease
Tremor, Myoclonus ORPHA:99825
Developmental And Epileptic Encephalopathy 109
Spasticity, Myoclonus, Gait ataxia OMIM:620145
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Tremor, Olivopontocerebellar atrophy, Rigidity, Ataxia, Parkinsonism OMIM:146500
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Hyperkinetic movements, Truncal ataxia ORPHA:369847
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Congenital Disorder Of Deglycosylation 2
Polymicrogyria, Hypothalamic hamartoma, Gray matter heterotopia, Dysphagia, Partial agenesis of t... OMIM:619775
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus OMIM:612964
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Short stature, Ataxia, Agenesis of corpus ca... ORPHA:314679
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Apraxia, Spasticity, Lateral ventricle dilatation, Myoclonus OMIM:221770
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Babinski sign, Spasticity, Intention tremor, Rigidity, Dystonia, Parkinsonism, Myoc... ORPHA:171695
Leber Congenital Amaurosis
Hemiplegia/hemiparesis, Abnormality of neuronal migration, Abnormal optic disc morphology ORPHA:65
Combined Oxidative Phosphorylation Deficiency 18
Intrauterine growth retardation, Tremor, Dysmetria OMIM:615578
Diarrhea 5, With Tufting Enteropathy, Congenital
Failure to thrive, Intractable diarrhea, Small for gestational age OMIM:613217
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Spasticity, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia OMIM:618892
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Reticular Dysgenesis
Diarrhea, Failure to thrive, Malabsorption, Weight loss ORPHA:33355
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Dystonia, Ataxia, Abnormal pyramidal sign, Hypogonadotropic hypogon... ORPHA:453533
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Rhabdoid Tumor
Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy ORPHA:69077
3-Methylglutaconic Aciduria Type 7
Hypertonia, Abnormality of extrapyramidal motor function, Spasticity, Cerebellar atrophy, Progres... ORPHA:445038
Alg8-Cdg
Optic atrophy, Diarrhea, Vomiting, Failure to thrive, Ataxia, Feeding difficulties, Intrauterine ... ORPHA:79325
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Torticollis, Tremor, Cerebellar edema, Rigidity, Ataxia, Tetraparesis, Myelo... OMIM:617186
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Familial Pancreatic Carcinoma
Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie... ORPHA:1333
Vaginal Atresia
Transverse vaginal septum, Pelvic mass, Vaginal hematocele, Imperforate hymen, Bicornuate uterus,... ORPHA:65681
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Memory impairment, Confusion, Semantic dementia, Dementia ORPHA:1020
Amish Nemaline Myopathy
Tremor ORPHA:98902
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Difficulty walking, Progressive cerebellar ataxia, Thick hair, Dysdiadochokinesis, Tremor, Short ... ORPHA:502423
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci... ORPHA:64743
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Feeding difficulties, Lateral ventricle dilatation OMIM:614105
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Dravet Syndrome
Bradykinesia, Incoordination, Poor fine motor coordination, Cogwheel rigidity, Action tremor, Rig... ORPHA:33069
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Roifman Syndrome
Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:616651
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Xeroderma Pigmentosum, Complementation Group F
Short stature, Decreased body weight, Tremor, Ataxia OMIM:278760
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly... ORPHA:39041
Pontocerebellar Hypoplasia, Type 2E
Hypertonia, Spasticity, Cerebellar atrophy, Opisthotonus, Myoclonus, Spastic tetraplegia OMIM:615851
Abeta Amyloidosis, Iowa Type
Myoclonus ORPHA:324708
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Fasciculations OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Fasciculations OMIM:616437
6Q Terminal Deletion Syndrome
Polymicrogyria, Gray matter heterotopia, Gait ataxia, Failure to thrive, Abnormality of neuronal ... ORPHA:75857
Cog8-Cdg
Cerebellar atrophy, Ataxia, Myoclonus ORPHA:95428
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Ascites, Testicular atrophy, Sple... OMIM:235200
Lennox-Gastaut Syndrome
Myoclonus ORPHA:2382
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dys... OMIM:168600
Dystonia-Aphonia Syndrome
Generalized dystonia, Oromandibular dystonia, Cerebellar atrophy, Myoclonus ORPHA:412217
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Difficulty walking, Spasticity, Rigidity, Ataxia, Agenesis of corpus callosum, Spa... OMIM:618476
Pseudo-Torch Syndrome 2
Polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation OMIM:617397
Joubert Syndrome With Ocular Defect
Oculomotor apraxia, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Tremor, Gait dist... ORPHA:220493
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Prostat... ORPHA:158057
Congenital Disorder Of Glycosylation, Type Id
Optic atrophy, Hypertonia, Diarrhea, Spastic tetraparesis, Vomiting, Failure to thrive OMIM:601110
Autosomal Recessive Spastic Paraplegia Type 77
Bradykinesia, Babinski sign, Scissor gait, Paroxysmal dystonia, Lower limb spasticity, Intention ... ORPHA:466722
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Hsd10 Disease, Infantile Type
Hyperkinetic movements, Spastic tetraparesis, Dystonia, Poor coordination, Choreoathetosis, Spast... ORPHA:391428
Oculopharyngodistal Myopathy 4
Postural tremor, Tremor OMIM:619790
Chylomicron Retention Disease
Abdominal distention, Steatorrhea, Impaired proprioception, Diarrhea, Vomiting, Failure to thrive... ORPHA:71
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Babinski sign, Tremor, Gait disturbance, Spastic paraplegia ORPHA:83629
Amyotrophic Lateral Sclerosis 8
Fasciculations, Abnormal pyramidal sign, Postural tremor OMIM:608627
Young-Onset Parkinson Disease
Bradykinesia, Gait imbalance, Spasticity, Tremor, Male sexual dysfunction, Rigidity, Dystonia, Fe... ORPHA:2828
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Ataxia, Myoclonus OMIM:618225
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Brody Disease
Fasciculations OMIM:601003
Gm1-Gangliosidosis, Type Iii
Dystonia, Ataxia, Slurred speech, Myoclonus OMIM:230650
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Primary testicular failure... ORPHA:85450
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopen... OMIM:619644
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, C... ORPHA:99812
Hyperprolinemia Type 2
Distal sensory impairment, Diarrhea, Abdominal pain, Dysesthesia, Unsteady gait, Dysphagia, Feedi... ORPHA:79101
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Failure to thrive OMIM:613501
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Orofaciodigital Syndrome Type 6
Tremor, Hypothalamic hamartoma, Gait disturbance, Short stature, Failure to thrive, Abnormality o... ORPHA:2754
Coenzyme Q10 Deficiency, Primary, 1
Right hemiplegia, Tremor, Cerebellar atrophy, Ataxia, Loss of ambulation, Myoclonus OMIM:607426
Rapadilino Syndrome
Diarrhea, Feeding difficulties, Short stature OMIM:266280
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties, Lower limb spasticity OMIM:615119
Maculopapular Cutaneous Mastocytosis
Diarrhea, Abdominal pain, Vomiting, Nausea ORPHA:79457
Benign Samaritan Congenital Myopathy
Fasciculations ORPHA:324581
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten... OMIM:613673
Schindler Disease, Type I
Spasticity, Myoclonus OMIM:609241
Celiac Disease, Susceptibility To, 1
Delayed puberty, Abdominal distention, Steatorrhea, Postnatal growth retardation, Recurrent aphth... OMIM:212750
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Shuffling gait, Gait disturbance, Rigidity, Dystonia, Loss of ambul... OMIM:168601
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive OMIM:228600
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... ORPHA:199351
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Abnormality of neuronal migration, Disproportionate short-limb s... ORPHA:2772
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Tremor, Opisthotonus OMIM:250800
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl... ORPHA:79456
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Short stature, Dystonia, Ataxia, Cerebellar hypoplasia OMIM:616113
Melas
Optic atrophy, Intestinal pseudo-obstruction, Diarrhea, Myoclonus, Gait disturbance, Vomiting, Co... ORPHA:550
Tetrasomy 18P
Achalasia, Abnormality of neuronal migration, Gait disturbance ORPHA:3307
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Macrophage Activation Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro... ORPHA:158061
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Hypertonia, Myoclonus OMIM:617290
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Truncal ataxia, Hyperkinetic movements, Cerebellar atrophy, Ataxia OMIM:300243
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Hyperekplexia 2
Hypertonia, Exaggerated startle response, Myoclonus OMIM:614619
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Spasticity, Ataxia, Cerebral amyloid angiopathy, Intention tremor OMIM:117300
Inclusion Body Myopathy And Brain White Matter Abnormalities
Fasciculations, Babinski sign OMIM:619733
Adenylosuccinase Deficiency
Spasticity, Cerebellar atrophy, Gait ataxia, Opisthotonus, Myoclonus, Hemiplegia OMIM:103050
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Alternating Hemiplegia Of Childhood
Anorexia, Abdominal distention, Paroxysmal dyskinesia, Oral-pharyngeal dysphagia, Oculomotor apra... ORPHA:2131
Sialidosis Type 1
Decreased nerve conduction velocity, Tremor, Gait disturbance, Short stature, Ataxia, Myoclonus, ... ORPHA:812
Isolated Agammaglobulinemia
Diarrhea, Failure to thrive, Malabsorption, Short stature ORPHA:229717
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Episodic abdominal pain, Abnormality of neuronal migration, Agenesis of corpus ca... ORPHA:157
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Hypertonia, Short stature, Abnormality of neuronal migration, Intrauterine growth ... ORPHA:2518
Foodborne Botulism
Paralysis, Diarrhea, Abdominal pain, Diaphragmatic paralysis, Cerebral palsy, Constipation, Dysph... ORPHA:228371
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of neuronal migration, Short stature ORPHA:44
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Vomiting, Failure to thrive, Osmotic diarrhea, Weight loss, Malnu... ORPHA:35710
Aromatic L-Amino Acid Decarboxylase Deficiency
Babinski sign, Torticollis, Oculogyric crisis, Limb hypertonia, Athetosis, Blepharospasm, Limb dy... OMIM:608643
Transaldolase Deficiency
Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Hepatosplenomegaly, Splenome... OMIM:606003
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Lower limb spasticity, Chorea, Upper limb spasticity, Myoclonus ORPHA:485350
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Diarrhea, Abd... ORPHA:343
Boutonneuse Fever
Thrombocytopenia, Leukopenia, Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Diarrhea, Severe short-limb dwarfism, Failure to thrive, Weight loss, Nausea and vomi... ORPHA:1842
Glucose/Galactose Malabsorption
Abdominal distention, Chronic diarrhea, Failure to thrive, Malabsorption, Hyperactive bowel sounds OMIM:606824
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Vomiting, Failure to thrive, Ataxia, Myoclonus OMIM:560000
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega... OMIM:612783
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Alopecia of scalp, Tremor, Short stature, Ataxia, Hypogonadism, Lethargy OMIM:201100
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Splenomegaly ORPHA:2414
Alg11-Cdg
Hypertonia, Episodic vomiting, Limb hypertonia, Gray matter heterotopia, Failure to thrive, Opist... ORPHA:280071
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Diarrhea, Cachexia, Vomiting, Ataxia ORPHA:42
Leigh Syndrome
Hyperkinetic movements, Abnormality of extrapyramidal motor function, Abnormal dentate nucleus mo... ORPHA:506
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
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
Congenital Short Bowel Syndrome
Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, V... OMIM:615237
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Babinski sign, Neurogenic bladder, Tremor, Spasticity, Spastic paraplegia, Ataxia, Dysmetria, Opt... OMIM:618527
Kallmann Syndrome
Delayed puberty, Breast hypoplasia, Erectile dysfunction, Paraplegia, Tremor, Dyspareunia, Gait d... ORPHA:478
Cyclic Neutropenia
Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis... ORPHA:2686
Peho Syndrome
Cerebellar atrophy, Myoclonus OMIM:260565
Congenital Disorder Of Glycosylation, Type Ii
Gastroesophageal reflux, Diarrhea, Decreased body weight, Short stature, Nasogastric tube feeding OMIM:607906
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Difficulty walking, Fasciculations, Facial diplegia, Tremor,... ORPHA:329478
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3386
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Babinski sign, Resting tremor, Spasticity, Cerebellar atrophy, Head tremor, Ataxia ORPHA:314404
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Dracunculiasis
Diarrhea, Nausea and vomiting ORPHA:231
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Fasciculations OMIM:614436
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly ORPHA:75233
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Involuntary movements, Clonus, Colpocephaly, Opisthotonus, Agenesis of c... OMIM:620352
Combined Malonic And Methylmalonic Acidemia
Vomiting, Intermittent diarrhea, Nasogastric tube feeding, Failure to thrive ORPHA:289504
Eosinophilic Gastroenteritis
Steatorrhea, Diarrhea, Abdominal pain, Vomiting, Hematochezia, Malabsorption, Dysphagia, Weight loss ORPHA:2070
Neuropathy, Hereditary Sensory And Autonomic, Type V
Impaired temperature sensation, Diarrhea, Impaired pain sensation, Constipation, Pain insensitivi... OMIM:608654
Neuroendocrine Tumor Of The Rectum
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100082
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Cerebral palsy, Abnormality of neuronal migration, Abnormal neuron morphol... ORPHA:163681
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Immunodeficiency 19
Chronic diarrhea, Failure to thrive OMIM:615617
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Dysdiadochokinesis, Cerebellar atrophy, Intention tremor, Clonus, Nonprogressive c... OMIM:301310
Joubert Syndrome
Oculomotor apraxia, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Tremor, Gait dist... ORPHA:475
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Gastroesophageal reflux, Limb hypertonia, Oromot... ORPHA:98889
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Myoclonus ORPHA:411986
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Hyperekplexia 3
Hypertonia, Exaggerated startle response, Myoclonus OMIM:614618
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate production, Hepatocellula... ORPHA:231222
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Tremor, Spastic tetraplegia, Choreoathetosis OMIM:612164
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... ORPHA:47612
Ataxia-Telangiectasia
Delayed puberty, Progressive cerebellar ataxia, Inability to walk, Abnormal hair morphology, Dysd... OMIM:208900
Leukodystrophy, Hypomyelinating, 10
Babinski sign, Spasticity, Hyperkinetic movements OMIM:616420
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Diarrhea, Abdominal pain, Cachexia, Vomiting, Hematochezia, Malabsorption, Xerostomia, ... OMIM:175500
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Botulism
Diarrhea, Abdominal pain, Diaphragmatic paralysis, Cerebral palsy, Constipation, Dysphagia, Nause... ORPHA:1267
Edinburgh Malformation Syndrome
Failure to thrive, Abnormality of neuronal migration, Hypertonia ORPHA:1895
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Ascites, Hepatospl... ORPHA:1655
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc... OMIM:618048
Hyperekplexia 1
Frequent falls, Hypertonia, Exaggerated startle response, Myoclonus OMIM:149400
Perrault Syndrome 3
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Neuroblastoma, Susceptibility To, 1
Diarrhea, Abdominal pain, Failure to thrive, Ataxia, Weight loss, Myoclonus, Horner syndrome OMIM:256700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... OMIM:304790
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Papa Syndrome
Lymphadenopathy ORPHA:69126
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Diarrhea, Vomiting, Failure to thrive, Intrauteri... OMIM:608104
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly OMIM:235555
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
Alexander Disease
Chorea, Tetraplegia, Tremor, Facial palsy, Abnormal autonomic nervous system physiology, Spastici... ORPHA:58
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hypertonia, Myoclonus OMIM:618240
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diarrhea, Absent brainstem auditory responses, Vomiting, Growth delay, Head titubation, Spastic t... ORPHA:3240
Epilepsy, Progressive Myoclonic, 10
Progressive cerebellar ataxia, Spasticity, Ataxia, Spastic ataxia, Myoclonus, Spastic tetraplegia OMIM:616640
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Abdominal pain, Vomiting OMIM:620137
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Den Hoed-De Boer-Voisin Syndrome
Inability to walk, Lower limb spasticity, Spasticity, Tremor, Decreased body weight, Upper limb s... OMIM:619229
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Difficulty walking, Gray matter heterotopia, Gastrointestinal dysmo... ORPHA:531151
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Polymicrogyria, Vomiting, Abnormality of neuronal migration, Agenesis of corpus callosu... OMIM:608836
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Porphyria Due To Ala Dehydratase Deficiency
Abdominal distention, Difficulty walking, Episodic vomiting, Diarrhea, Abdominal pain, Constipati... ORPHA:100924
Castleman Disease
Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Abdominal mass, Thrombocytopenia,... ORPHA:160
Developmental And Epileptic Encephalopathy 89
Hypertonia, Hyperkinetic movements, Spasticity, Cerebellar atrophy, Dystonia, Tetraparesis OMIM:619124
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Interhypothalamic adhesion, Agenesis of corpus callosum OMIM:618929
Wolfram Syndrome 1
Optic atrophy, Neurogenic bladder, Tremor, Growth delay, Ataxia, Testicular atrophy OMIM:222300
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Spasticity, Hyperkinetic movements, Dystonia, Athetosis OMIM:612073
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Premature ovarian insufficiency, Female infertility, Irregular menstruation OMIM:110100
Posttransplant Acute Limbic Encephalitis
Dystonia, Ataxia, Myoclonus ORPHA:163921
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Unsteady g... OMIM:618733
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Abdominal distention, Hematochezia, Weight loss ORPHA:103910
Dpm1-Cdg
Optic atrophy, Diarrhea, Spasticity, Failure to thrive, Ataxia, Gastrostomy tube feeding in infancy ORPHA:79322
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly OMIM:613027
Porphyria, Acute Intermittent
Respiratory paralysis, Diarrhea, Abdominal pain, Vomiting, Nausea, Constipation, Paralysis, Paral... OMIM:176000
Adult-Onset Still Disease
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S... ORPHA:829
Autoinflammation With Infantile Enterocolitis
Episodic vomiting, Short stature, Enterocolitis, Failure to thrive, Secretory diarrhea, Feeding d... OMIM:616050
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233710
Unilateral Polymicrogyria
Abnormal posturing, Poor fine motor coordination, Involuntary movements, Hemiparesis, Myoclonus, ... ORPHA:268943
Trichothiodystrophy 5, Nonphotosensitive
Broad-based gait, Chronic diarrhea, Optic nerve hypoplasia, Gait ataxia, Short stature, Intrauter... OMIM:300953
Lymphatic Filariasis
Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Abnormal s... ORPHA:2035
Inflammatory Skin And Bowel Disease, Neonatal, 2
Vomiting, Failure to thrive, Secretory diarrhea OMIM:616069
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Behavioral Variant Of Frontotemporal Dementia
Fasciculations, Abnormality of extrapyramidal motor function, Upper motor neuron dysfunction ORPHA:275864
Early-Onset Lafora Body Disease
Spastic tetraparesis, Ataxia, Myoclonus ORPHA:324290
Bohring-Opitz Syndrome
Gastroesophageal reflux, Mesomelic/rhizomelic limb shortening, Gray matter heterotopia, Short sta... OMIM:605039
Wild Type Attr Amyloidosis
Intermittent diarrhea, Chronic diarrhea, Abnormal autonomic nervous system physiology, Bowel inco... ORPHA:330001
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Mevalonic Aciduria
Progressive cerebellar ataxia, Diarrhea, Vomiting, Short stature, Failure to thrive, Ataxia, Fail... OMIM:610377
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Fabry Disease
Delayed puberty, Diarrhea, Abdominal pain, Fasciculations, Abnormal autonomic nervous system phys... OMIM:301500
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Ascites, Portal... ORPHA:79124
Mitochondrial Dna Depletion Syndrome 19
Spasticity, Tetraparesis, Myoclonus OMIM:618972
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism ORPHA:1578
Autoinflammatory-Pancytopenia Syndrome
Growth delay, Chronic diarrhea, Failure to thrive, Intestinal inflammation OMIM:619858
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypertonia, Hyperkinetic movements, Severe failure to thrive, Optic nerve hypoplasia, Polymicrogy... ORPHA:468631
Mpi-Cdg
Decreased liver function, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Failure to thrive ORPHA:79319
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Abnormality of neuronal migration, Feeding difficulties, Agenesis of corpus callo... ORPHA:228308
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea, Optic disc pallor OMIM:619446
Cockayne Syndrome Type 1
Optic atrophy, Postnatal growth retardation, Difficulty walking, Lower limb spasticity, Diarrhea,... ORPHA:90321
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ... OMIM:607765
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Diarrhea 12, With Microvillus Atrophy
Vomiting, Abdominal distention, Dependency on parenteral nutrition, Secretory diarrhea OMIM:619445
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Fasciculations, Clumsiness, Frequent falls ORPHA:521411
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole... ORPHA:131
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233690
Immunodeficiency 115 With Autoinflammation
Postnatal growth retardation, Intermittent diarrhea OMIM:620632
Adams-Oliver Syndrome 6
Hepatic fibrosis, Splenomegaly, Portal hypertension OMIM:616589
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Myoclonus OMIM:619814
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Leukopenia, Sple... OMIM:603553
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons... OMIM:606367
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, Myoclonus OMIM:300673
Snakebite Envenomation
Respiratory paralysis, Diarrhea, Neuromuscular dysphagia, Vomiting, Paralysis, Pseudobulbar paral... ORPHA:449285
Intellectual Developmental Disorder, Autosomal Dominant 51
Chronic diarrhea, Poor suck, Failure to thrive, Feeding difficulties, Chronic constipation OMIM:617788
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Developmental Delay With Variable Neurologic And Brain Abnormalities
Spasticity, Gray matter heterotopia OMIM:619694
Agammaglobulinemia, X-Linked
Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho... OMIM:300755
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thr... ORPHA:540
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Cervical lymph... ORPHA:514
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
Cutaneous Mastocytoma
Diarrhea, Abdominal pain, Vomiting, Nausea ORPHA:79455
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Diarrhea, Failure to thrive, Feeding difficulties in infancy, Vomiting OMIM:264350
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus ORPHA:289266
D-Glyceric Aciduria
Chorea, Spasticity, Myoclonus ORPHA:941
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tip-toe gait, Babinski sign, Hypertonia, Difficulty walking, Inability to walk, Impaired tactile ... ORPHA:466768
Stiff-Person Syndrome
Frequent falls, Exaggerated startle response, Myoclonic spasms, Rigidity, Opisthotonus OMIM:184850
Legionnaires Disease
Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, ... ORPHA:549
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro... OMIM:267700
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Nausea, Poor appetite, Dysphagia ORPHA:352447
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Cronkhite-Canada Syndrome
Anorexia, Diarrhea, Abdominal pain, Cachexia, Malabsorption ORPHA:2930
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat... OMIM:613812
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Decreased distal sensory nerve action potential, Tip-toe gait, Difficulty walking,... ORPHA:99956
Immunodeficiency 46
Chronic diarrhea, Failure to thrive OMIM:616740
Enteric Anendocrinosis
Diarrhea, Malabsorption, Vomiting ORPHA:83620
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Tremor, Intention tremor, Growth delay, Failure to thrive, Neonatal death, Ataxia, Intrauterine g... OMIM:614052
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Progressive Supranuclear Palsy
Bradykinesia, Falls, Tremor, Blepharospasm, Rigidity, Dystonia, Unsteady gait ORPHA:683
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Premature graying of hair, Postnatal growth retardation, Nail dystrophy, Abnormality of extrapyra... OMIM:612199
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Colpocephaly, Dysphagia, Feeding difficulties, Periventricular heterotopia ORPHA:261250
Neuroendocrine Tumor Of The Colon
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100080
Glutaric Aciduria Iii
Diarrhea, Failure to thrive, Vomiting OMIM:231690
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Gastroesophageal reflux, Diarrhea, Incoordination, Vomiting, Constipatio... OMIM:223900
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Neurodevelopmental Disorder With Spasticity And Poor Growth
Babinski sign, Oculomotor apraxia, Limb hypertonia, Spasticity, Intention tremor, Clonus, Ataxia,... OMIM:618076
Erythermalgia, Primary
Diarrhea, Abnormal autonomic nervous system physiology, Xerostomia, Constipation OMIM:133020
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Incoordination, Tremor, Short stature, Obesity, Ataxia, Unsteady gait, Abnormal py... OMIM:614947
3C Syndrome
Optic atrophy, Postnatal growth retardation, Gastroesophageal reflux, Short stature, Abnormality ... ORPHA:7
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
Cerebrotendinous Xanthomatosis
Babinski sign, Difficulty walking, Delayed somatosensory central conduction time, Diarrhea, Spast... OMIM:213700
Myopathy, Myofibrillar, 2
Fasciculations OMIM:608810
Glutaryl-Coa Dehydrogenase Deficiency
Chorea, Tremor, Athetosis, Poor motor coordination, Limb dystonia, Communicating hydrocephalus, R... ORPHA:25
Orofaciodigital Syndrome Type 3
Oculomotor apraxia, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Spasticity, Myoclonus ORPHA:2752
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Spasticity, Cerebellar atrophy, Ataxia, Myoclonus ORPHA:168491
Immunodeficiency 15B
Chronic diarrhea, Failure to thrive OMIM:615592
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculomotor apraxia, Oculogyric crisis, Spasticity, Tremor, Frequent falls, Growth delay, Dystonia... OMIM:612716
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis ORPHA:294
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea, Failure to thrive in infancy, Broad-based gait OMIM:618805
Immunodeficiency 57 With Autoinflammation
Diarrhea, Inflammation of the large intestine, Failure to thrive, Gastritis OMIM:618108
Necrotizing Enterocolitis
Abdominal distention, Abdominal rigidity, Diarrhea, Hypoactive bowel sounds, Bloody diarrhea, Vom... ORPHA:391673
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Unsteady gait, Chronic diarrhea, Ataxia, Lateral ventricle dilatation ORPHA:457279
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Galloway-Mowat Syndrome
Hypertonia, Short stature, Hemiplegia/hemiparesis, Abnormality of neuronal migration, Pachygyria,... ORPHA:2065
Congenital Tufting Enteropathy
Abdominal distention, Steatorrhea, Chronic diarrhea, Vomiting, Failure to thrive, Secretory diarr... ORPHA:92050
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Ascites, Hepatomegaly, Splenomegaly ORPHA:36412
Acalvaria
Abnormality of neuronal migration ORPHA:945
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Diarrhea, Growth delay OMIM:614069
Galactosemia I
Decreased liver function, Failure to thrive, Diarrhea, Vomiting OMIM:230400
Neurogenic Arthrogryposis Multiplex Congenita
Fasciculations ORPHA:1143
Chediak-Higashi Syndrome
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa... OMIM:214500
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Bloody diarrhea, Esophagitis, Vomiting OMIM:619079
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymphadenitis, Splenomegaly, He... OMIM:615895
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Abnormal cortical gyration, Chronic diarrhea, Growth delay, Inflammation of the la... OMIM:614576
Satoyoshi Syndrome
Diarrhea, Malabsorption, Short stature OMIM:600705
Thrombotic Thrombocytopenic Purpura
Diarrhea, Abdominal pain ORPHA:54057
Gabriele-De Vries Syndrome
Tip-toe gait, Tremor, Waddling gait, Dystonia, Lateral ventricle dilatation, Intrauterine growth ... OMIM:617557
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Poorly formed metencephalon, Aprosencephaly OMIM:601374
Adiposis Dolorosa
Diarrhea, Constipation, Obesity, Xerostomia, Paresthesia ORPHA:36397
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Lymphadenopathy, Azoospermia, Pancreatic hypoplasia, Hypergonadotropic hypogonadism... OMIM:602782
Japanese Encephalitis
Anorexia, Pill-rolling tremor, Hypertonia, Paralysis, Respiratory paralysis, Diarrhea, Abdominal ... ORPHA:79139
Immunodeficiency 114, Folate-Responsive
Postnatal growth retardation, Chronic diarrhea OMIM:620603
Congenital Myopathy 20
Chronic diarrhea, Failure to thrive, Frequent falls OMIM:620310
Inhalational Botulism
Paralysis, Diarrhea, Constipation, Nausea and vomiting, Xerostomia ORPHA:254504
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Nausea and vomiting ORPHA:65682
Whipple Disease
Anorexia, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Cachexia, Ataxia, Malabsorption,... ORPHA:3452
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ... ORPHA:98813
Galloway-Mowat Syndrome 1
Optic atrophy, Small for gestational age, Spasticity, Short stature, Abnormality of neuronal migr... OMIM:251300
Carnitine Deficiency, Systemic Primary
Diarrhea, Failure to thrive, Vomiting OMIM:212140
Thanatophoric Dysplasia Type 2
Short stature, Abnormality of neuronal migration ORPHA:93274
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Episodic vomiting, Diarrhea, Chorea, Gait ataxia, Vomiting, Ataxia, Myoclonus, Spastic tetraplegia OMIM:618321
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Hyperkinetic movements OMIM:620469
Aicardi Syndrome
Optic atrophy, Postnatal growth retardation, Polymicrogyria, Gray matter heterotopia, Optic disc ... OMIM:304050
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic steatosis OMIM:618641
Serotonin Syndrome
Hypertonia, Diarrhea, Tremor, Abnormality of the autonomic nervous system, Clonus, Nausea, Rigidi... ORPHA:43116
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Failure to thrive, Feeding difficulties, Vomiting OMIM:177735
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Polycythemia, Splenomegaly, Hypogonadism, ... ORPHA:2905
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, Weight loss, Ga... ORPHA:67
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:230800
Neuroendocrine Tumor Of Stomach
Hematemesis, Intermittent diarrhea, Anorexia, Bowel urgency, Melena, Bloody diarrhea, Lack of bow... ORPHA:100075
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Abdominal distention, Distal sensory impairment, Broad-based gait, Diarrhea, Reye syndrome-like e... OMIM:256810
X-Linked Intellectual Disability Due To Gria3 Mutations
Babinski sign, Cerebellar vermis hypoplasia, Spasticity, Retrocerebellar cyst, Myoclonus ORPHA:364028
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Fasciculations, Tetraplegia, Progressive spasticity, Cerebellar atrophy, Cataplexy, Spasticity, D... ORPHA:496641
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Babinski sign, Bradykinesia, Akinesia, Abnormality of extrapyramidal motor functio... OMIM:234200
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Chronic diarrhea, Gait ataxia OMIM:616355
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Pancreatic islet cell adenoma, Mediastinal lymphadenopathy, Chronic nonin... ORPHA:97289
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils ORPHA:379
Aromatase Deficiency
Primary amenorrhea, Female infertility, Male infertility, Hypergonadotropic hypogonadism ORPHA:91
Combined Oxidative Phosphorylation Defect Type 29
Poor coordination, Diffuse cerebellar atrophy, Myoclonic spasms ORPHA:478029
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Vascular Hyalinosis
Diarrhea, Hematochezia, Malabsorption OMIM:277175
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly OMIM:260920
Vici Syndrome
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Abnormal posturing OMIM:242840
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Mixed Connective Tissue Disease
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Hemolytic a... ORPHA:809
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Oculomotor apraxia, Cerebellar vermis hypoplasia, Hydrocephalus, Tremor,... ORPHA:1454
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Ataxia, Hypogonadism ORPHA:79095
Thanatophoric Dysplasia
Intrauterine growth retardation, Gray matter heterotopia, Disproportionate short-limb short stature ORPHA:2655
Pediatric-Onset Graves Disease
Hyperkinetic movements, Diarrhea, Tremor, Failure to thrive, Nausea and vomiting, Intrauterine gr... ORPHA:525731
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Diarrhea, Failure to thrive, Malabsorption, Short stature OMIM:242860
Beta-Ketothiolase Deficiency
Anorexia, Diarrhea, Spasticity, Vomiting, Extrapyramidal dyskinesia, Ataxia, Weight loss ORPHA:134
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Erythroderma Desquamativum
Diarrhea, Failure to thrive ORPHA:314
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis... OMIM:208540
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia, Feeding difficulties in infancy OMIM:618974
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Cerebral palsy, Myoclonus OMIM:617600
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Diarrhea, Vomiting, Failure to thrive, Hepatic failure OMIM:602579
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Hypertonia, Frontal polymicrogyria, Gray matter heterotopia, Short stature, Failure to thrive, Fe... OMIM:620024
Acute Promyelocytic Leukemia
Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia ORPHA:520
Coffin-Lowry Syndrome
Optic atrophy, Hypertonia, Progressive spasticity, Gait disturbance, Short stature, Abnormality o... ORPHA:192
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Protracted diarrhea, Diarrhea, Failure to thrive secondary to recurrent infections ORPHA:169160
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Diarrhea, Tremor, Increased body weight, Vomiting ORPHA:263455
Hyperlysinemia
Tip-toe gait, Neck hypertonia, Tremor, Spastic tetraparesis, Poor motor coordination, Short statu... ORPHA:2203
Methanol Poisoning
Diarrhea, Abdominal pain, Vomiting ORPHA:31825
Immunodeficiency 11B With Atopic Dermatitis
Chronic diarrhea, Ulcerative colitis, Colonic eosinophilia OMIM:617638
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia ORPHA:90033
Intellectual Developmental Disorder, Autosomal Dominant 54
Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Cerebellar atrophy, Vocal... OMIM:617799
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Diarrhea, Abdominal pain, Vomiting, Growth delay, Malabsorption OMIM:226300
Autosomal Agammaglobulinemia
Diarrhea, Failure to thrive, Malabsorption ORPHA:33110
Complement Component 4B Deficiency
Chronic diarrhea OMIM:614379
Familial Glucocorticoid Deficiency
Anorexia, Diarrhea, Tetraplegia, Episodic abdominal pain, Vomiting, Constipation, Failure to thri... ORPHA:361
H Syndrome
Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased testicular size, Hepatosplenomegaly, Hyp... ORPHA:168569
B4Galt1-Cdg
Diarrhea, Small for gestational age ORPHA:79332
Familial Hypoaldosteronism
Orthostatic hypotension, Diarrhea, Growth delay, Failure to thrive, Feeding difficulties, Nausea ... ORPHA:427
Immunodeficiency By Defective Expression Of Mhc Class Ii
Diarrhea, Gait ataxia, Failure to thrive, Recurrent infection of the gastrointestinal tract, Prot... ORPHA:572
Sandhoff Disease
Orthostatic hypotension, Impaired temperature sensation, Fasciculations, Chronic diarrhea, Spasti... OMIM:268800
Severe Combined Immunodeficiency, X-Linked
Chronic diarrhea, Failure to thrive OMIM:300400
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia... ORPHA:1572
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Abnormality of extrapyramidal motor function, Spasticity, Ataxia, Myoclonus OMIM:614299
Postpoliomyelitis Syndrome
Fasciculations ORPHA:2942
Multiple Mitochondrial Dysfunctions Syndrome 1
Abnormality of extrapyramidal motor function, Spastic tetraparesis, Opisthotonus, Facial paralysi... OMIM:605711
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Intellectual Developmental Disorder, Autosomal Dominant 57
Tip-toe gait, Intermittent diarrhea, Diarrhea, Constipation, Short stature, Failure to thrive, Fe... OMIM:618050
Periodic Fever, Familial, Autosomal Dominant
Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy OMIM:142680
Adams-Oliver Syndrome 5
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right ventricular hypertrophy OMIM:616028
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Melena, Diarrhea, Abdominal pain, Vomiting, Nausea, Poor appetite, D... ORPHA:319218
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid... OMIM:306400
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Opitz-Kaveggia Syndrome
Spasticity, Gray matter heterotopia, Constipation, Short stature, Partial agenesis of the corpus ... OMIM:305450
Yao Syndrome
Diarrhea, Abdominal pain, Weight loss, Xerostomia OMIM:617321
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Facial palsy, Nausea OMIM:615084
Immunodeficiency 85 And Autoimmunity
Tube feeding, Chronic diarrhea, Vomiting, Growth delay, Failure to thrive in infancy OMIM:619510
Combined Oxidative Phosphorylation Deficiency 58
Appendicular spasticity, Cerebellar atrophy, Exaggerated startle response, Gait ataxia, Ataxia, M... OMIM:620451
Niemann-Pick Disease Type C
Lower limb spasticity, Axial dystonia, Cerebellar vermis atrophy, Chorea, Tremor, Cataplexy, Uppe... ORPHA:646
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,... ORPHA:100086
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea OMIM:612692
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Gastroesophageal reflux, Chronic diarrhea, Poor suck, Gait disturbance, Short stature, Failure to... ORPHA:500055
Hyperkalemic Periodic Paralysis
Fasciculations, Hypertonia, Periodic hyperkalemic paralysis, Cerebral palsy ORPHA:682
Man1B1-Cdg
Resting tremor, Periventricular heterotopia, Truncal obesity, Broad-based gait ORPHA:397941
Metachromatic Leukodystrophy
Tip-toe gait, Decreased nerve conduction velocity, Incoordination, Decerebrate rigidity, Tremor, ... ORPHA:512
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar cyst, Encephalocele, Hydrocephalus, Cerebellar dysplasia, Partial absence of cerebella... OMIM:613150
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Diarrhea, Tremor, Intention tremor, Vomiting, Failure to thrive, Ataxia, Feeding dif... OMIM:212065
Brain-Lung-Thyroid Syndrome
Apraxia, Chorea, Incoordination, Intention tremor, Involuntary movements, Dystonia, Ataxia, Agene... ORPHA:209905
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hyperkinetic movements, Oculomotor apraxia, Chorea, Athetosis, Cerebellar atrophy, Lingual dyston... ORPHA:404454
Pyruvate Carboxylase Deficiency
Tip-toe gait, Tremor, Growth delay, Failure to thrive, Dystonia, Ataxia, Agenesis of corpus callo... ORPHA:3008
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Gastroparesis, Intestinal pseudo-obstruction, Episodic vomiting, Optic nerve h... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Gastroparesis, Intestinal pseudo-obstruction, Episodic vomiting, Optic nerve h... ORPHA:352665
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal cerebellar cortex morphology, Myoclonus, Gait ataxia ORPHA:70595
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus OMIM:615300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Diarrhea, Proportionate short stature, Vomiting, Failure to thrive, Acute hepatic failure, Intrau... ORPHA:71212
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Carcinoid Syndrome
Hepatic necrosis, Chronic noninfectious lymphadenopathy ORPHA:100093
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary ORPHA:3109
Hereditary Folate Malabsorption
Anorexia, Gastroesophageal reflux, Diarrhea, Failure to thrive, Nausea and vomiting ORPHA:90045
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:168558
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Myoclonus OMIM:616158
Pyridoxal Phosphate-Responsive Seizures
Hypertonia, Myoclonus ORPHA:79096
Aa Amyloidosis
Chronic diarrhea, Abdominal pain, Vomiting, Nausea, Malabsorption, Malnutrition ORPHA:85445
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Diarrhea, Short stature, Papilledema, Severe short stature, Mild s... OMIM:309900
Sandhoff Disease, Infantile Form
Spasticity, Exaggerated startle response, Myoclonus ORPHA:309155
Kikuchi-Fujimoto Disease
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Leukopenia,... ORPHA:50918
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Postnatal growth retardation, Diarrhea, Increased body weight, Vomiting, Nausea, Short stature ORPHA:79240
X-Linked Agammaglobulinemia
Chronic diarrhea, Short stature, Failure to thrive, Malabsorption, Weight loss ORPHA:47
Blue Diaper Syndrome
Diarrhea, Increased body weight ORPHA:94086
Tick-Borne Encephalitis
Hyperkinetic movements, Tongue fasciculations, Incoordination, Tremor, Abnormal medulla oblongata... ORPHA:297
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Episodic vomiting, Spastic hemiparesis, Diarrhea, Spasticity, Reye syndrome-like episod... ORPHA:20
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Failure to thrive, Feeding difficulties, Vomiting OMIM:251000
Hereditary Fructose Intolerance
Abdominal distention, Diarrhea, Abdominal pain, Chronic hepatic failure, Vomiting, Nausea, Consti... ORPHA:469
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:289548
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
Specific Granule Deficiency 2
Failure to thrive, Intractable diarrhea OMIM:617475
Neuraminidase Deficiency
Slurred speech, Dysmetria, Myoclonus OMIM:256550
Proprotein Convertase 1/3 Deficiency
Diarrhea, Obesity, Malabsorption OMIM:600955
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gastroesophageal reflux, Gait disturbance, Vomiting, Failure to thrive, Abnormality of neuronal m... ORPHA:464311
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Sialuria
Hyperkinetic movements ORPHA:3166
Orofaciodigital Syndrome Xvi
Inability to walk, Ataxia, Gray matter heterotopia, Oculomotor apraxia OMIM:617563
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Protuberant abdomen, Gray matter heterotopia, Disproportionate... OMIM:187600
D-Glyceric Aciduria
Appendicular spasticity, Spasticity, Opisthotonus, Myoclonus, Spastic tetraplegia OMIM:220120
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Myoclonus OMIM:614946
Intestinal Botulism
Diarrhea, Nausea and vomiting, Dysphagia, Xerostomia ORPHA:178481
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Leukemia ORPHA:33226
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Chronic diarrhea, Spastic tetraparesis, Cerebral palsy, Paraparesis, Failure to thrive, Dysphagia... OMIM:620358
Abetalipoproteinemia
Babinski sign, Steatorrhea, Impaired proprioception, Steppage gait, Broad-based gait, Impaired di... ORPHA:14
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Diarrhea, Increased body weight, Vomiting, Nausea, Short stature, Failure to thr... ORPHA:264580
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Biotinidase Deficiency
Optic atrophy, Diarrhea, Vomiting, Ataxia, Feeding difficulties in infancy OMIM:253260
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fasciculations, Upper motor neuron dysfunction ORPHA:52430
Van Maldergem Syndrome 1
Gray matter heterotopia, Growth delay, Simplified gyral pattern, Feeding difficulties, Pachygyria... OMIM:601390
Supranuclear Palsy, Progressive, 1
Bradykinesia, Akinesia, Gait imbalance, Retrocollis, Axial dystonia, Falls, Tremor, Limb dystonia... OMIM:601104
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... OMIM:154230
Graft Versus Host Disease
Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Chronic hepatitis, Hepatosplenomegaly ORPHA:39812
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
19P13.13 Microdeletion Syndrome
Optic atrophy, Diarrhea, Abdominal pain, Functional abnormality of the gastrointestinal tract, Op... ORPHA:357001
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Hepatitis, Lymphadenopathy ORPHA:139402
Q Fever
Hepatomegaly, Anemia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:781
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl... OMIM:615934
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly OMIM:207770
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Hyperkinetic movements, Athetoid cerebral palsy, Chorea, Dystonia, Ataxia, Choreoa... ORPHA:522077
Lymphangioleiomyomatosis
Lymphadenopathy, Abnormality of the lymphatic system, Ascites, Pulmonary lymphangiomyomatosis, Ab... ORPHA:538
Orofaciodigital Syndrome Vi
Polymicrogyria, Hypothalamic hamartoma, Short stature, Failure to thrive, Agenesis of corpus call... OMIM:277170
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Aganglionic megacolon, Ataxia ORPHA:2318
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Opisthotonus, Pach... ORPHA:2671
Juvenile Sialidosis Type 2
Lower limb spasticity, Spasticity, Ataxia, Myoclonus, Dysmetria ORPHA:93399
Choreoacanthocytosis
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Resting tremor, Chorea,... ORPHA:2388
Late-Onset Isolated Acth Deficiency
Anorexia, Orthostatic hypotension, Diarrhea, Abdominal pain, Constipation, Failure to thrive, Wei... ORPHA:199299
Visceral Myopathy 1
Abdominal distention, Aganglionic megacolon, Intestinal pseudo-obstruction, Gastroparesis, Diarrh... OMIM:155310
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon... ORPHA:432
Aicardi-Goutieres Syndrome 7
Hematemesis, Hypertonia, Limb hypertonia, Lower limb spasticity, Diarrhea, Tetraplegia, Bloody di... OMIM:615846
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Inability to walk, Reye syndrome-like episodes, Gray matter heterotopia... ORPHA:26791
Riddle Syndrome
Diarrhea, Abdominal pain, Gait disturbance, Short stature, Poor hand-eye coordination, Ataxia, We... ORPHA:420741
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Lymphopenia, Ascites, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic a... ORPHA:93552
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Transcobalamin Ii Deficiency
Diarrhea, Failure to thrive, Ataxia, Vomiting OMIM:275350
Full Schwannomatosis
Fasciculations ORPHA:93921
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:64280
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Babinski sign, Truncal ataxia, Spasticity, Cerebellar atrophy, Lower limb hypertonia, Ataxia, Myo... OMIM:301072
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel... ORPHA:3261
Congenital Disorder Of Glycosylation, Type Im
Diarrhea, Failure to thrive, Tetraplegia, Vomiting OMIM:610768
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Diarrhea, Functional abnormality of the gastroint... ORPHA:90051
Immunodeficiency, Common Variable, 7
Chronic diarrhea OMIM:614699
Citrullinemia Type Ii
Decreased body mass index, Diarrhea, Tremor, Delayed menarche, Vomiting ORPHA:247585
Microphthalmia, Syndromic 9
Multilobulated spleen, Bicornuate uterus, Hypoplastic spleen, Cryptorchidism, Hypoplasia of the u... OMIM:601186
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,... OMIM:618280
Agammaglobulinemia 8B, Autosomal Recessive
Chronic diarrhea, Failure to thrive OMIM:619824
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hypertension, Bone marr... OMIM:615688
Poliomyelitis
Fasciculations, Hyperkinetic movements, Paralysis, Paraparesis ORPHA:2912
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Acute Intermittent Porphyria
Abdominal distention, Respiratory paralysis, Diarrhea, Abdominal pain, Tremor, Constipation, Naus... ORPHA:79276
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Carney Triad
Lymphadenopathy, Ascites, Mediastinal lymphadenopathy, Anemia ORPHA:139411
Congenital Sialidosis Type 2
Hydrocephalus, Spasticity, Ataxia, Myoclonus, Dysmetria ORPHA:93400
Peroxisome Biogenesis Disorder 1A (Zellweger)
Polymicrogyria, Gray matter heterotopia, Frequent falls, Failure to thrive, Unsteady gait, Dyspha... OMIM:214100
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Colitis, Inflammation of the large intestine OMIM:619281
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gastroesophageal reflux, Impaired pain sensation, Abnormal autonomic nervous system physiology, G... ORPHA:453499
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Dengue Fever
Nausea and vomiting, Abdominal pain, Gastrointestinal hemorrhage, Diarrhea ORPHA:99828
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Fasciculations, Head tremor, Gait ataxia, Hand tremor ORPHA:101085
Microscopic Polyangiitis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Peritonitis,... ORPHA:727
Neuroblastoma
Abdominal distention, Chronic diarrhea, Ataxia, Weight loss, Myoclonus, Horner syndrome, Antalgic... ORPHA:635
Farber Disease
Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Ascites, Hepatosplenome... ORPHA:333
Radiation Proctitis
Intestinal obstruction, Diarrhea, Abdominal pain, Bowel incontinence, Constipation, Hematochezia,... ORPHA:70475
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:153670
Triosephosphate Isomerase Deficiency
Spasticity, Tremor, Failure to thrive, Dystonia, Unsteady gait, Optic disc pallor OMIM:615512
Autosomal Dominant Severe Congenital Neutropenia
Diarrhea, Abdominal pain, Recurrent infection of the gastrointestinal tract, Recurrent aphthous s... ORPHA:486
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Disproportionate short stature, Abnormal cortical gyration, Gastroesophageal reflux, Severe postn... OMIM:210710
Immunodeficiency 9
Difficulty walking, Recurrent aphthous stomatitis, Stomatitis, Chronic diarrhea, Failure to thrive OMIM:612782
Infantile Krabbe Disease
Lower limb spasticity, Ankle clonus, Decerebrate rigidity, Spasticity, Opisthotonus, Myoclonus, S... ORPHA:206436
Periventricular Nodular Heterotopia
Periventricular heterotopia, Gastroesophageal reflux ORPHA:98892
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi... ORPHA:100085
Alg1-Cdg
Decreased liver function, Chronic diarrhea ORPHA:79327
Systemic Capillary Leak Syndrome
Diarrhea, Abdominal pain, Weight loss ORPHA:188
Tangier Disease
Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat... ORPHA:31150
Shigellosis
Anorexia, Acute colitis, Abdominal pain, Bloody diarrhea, Vomiting, Abdominal cramps, Nausea, Fai... ORPHA:810
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut... OMIM:614162
Rheumatic Fever
Fasciculations, Chorea, Hemiballismus ORPHA:3099
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Miller-Dieker Lissencephaly Syndrome
Agyria, Gray matter heterotopia, Failure to thrive, Pachygyria, Intrauterine growth retardation, ... OMIM:247200
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha... OMIM:617718
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Chronic diarrhea OMIM:618523
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Hand tremor, Small for gestational age, Weight loss ORPHA:424
Ppoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Diarrhea, Hypoactive bowel sounds,... ORPHA:97278
Lysosomal Acid Lipase Deficiency
Decreased liver function, Abdominal distention, Steatorrhea, Malnutrition, Diarrhea, Abdominal pa... ORPHA:275761
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Oligomenor... ORPHA:572333
Fatal Familial Insomnia
Ataxia, Myoclonus OMIM:600072
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Myoclonus OMIM:614462
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hypothalamic hamartoma, Gray matter heterotopia, Short stature, Agene... OMIM:311200
Congenital Disorder Of Deglycosylation 1
Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Action tremor, Myoclonus, Dysme... OMIM:615273
Acute Adrenal Insufficiency
Anorexia, Delayed puberty, Orthostatic hypotension, Diarrhea, Abdominal pain, Constipation, Failu... ORPHA:95409
Zttk Syndrome
Dysplastic corpus callosum, Optic atrophy, Chronic diarrhea, Spasticity, Short stature, Failure t... OMIM:617140
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple... ORPHA:567983
Car T Cell Therapy-Associated Cytokine Release Syndrome
Diarrhea, Nausea, Poor appetite, Vomiting ORPHA:542323
Hyperlipoproteinemia, Type I
Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Oculogyric crisis, Lingual dystonia, Blepharospasm, Uppe... ORPHA:306674
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Spasticity, Gray matter heterotopia, Gastrostomy tube feeding in infancy OMIM:618797
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Growth delay, Exocrine pancreatic in... ORPHA:309031
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Gastroesophageal reflux, Diarrhea, Optic nerve hypoplasia, Positive Romberg sign, Intention tremo... ORPHA:221139
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Chronic diarrhea, Short stature, Failure to thrive in infancy, Feeding d... OMIM:613385
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy... OMIM:263200
Immunodeficiency 40
Growth delay, Intermittent diarrhea, Chronic diarrhea, Focal active colitis OMIM:616433
Amyotrophic Lateral Sclerosis
Fasciculations, Babinski sign, Spasticity, Paralysis ORPHA:803
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Early Infantile Epileptic Encephalopathy
Spasticity, Tremor, Cerebellar atrophy, Episodic ataxia, Dystonia, Myoclonus, Choreoathetosis ORPHA:1934
Infantile Systemic Hyalinosis
Steatorrhea, Chronic diarrhea, Growth delay, Failure to thrive, Severe short stature, Malabsorpti... ORPHA:2176
Pancreatic Colipase Deficiency
Chronic diarrhea, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption ORPHA:309108
Lassa Fever
Nausea and vomiting, Abdominal pain, Diarrhea, Dysphagia ORPHA:99824
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ... ORPHA:83471
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosis OMIM:620233
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Spasticity, Cerebellar atrophy, Ataxia, Myoclonus OMIM:618426
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Mirage Syndrome
Gastroesophageal reflux, Paraplegia, Chronic diarrhea, Decreased body weight, Short stature, Intr... OMIM:617053
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Bloody diarrhea OMIM:614328
Neurocutaneous Melanocytosis
Hemiparesis, Abnormality of neuronal migration ORPHA:2481
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Spasticity, Type II lissencephaly, Gray matter heterotopia, Agenesis of co... OMIM:615287
Coccidioidomycosis
Abnormality of the female genitalia, Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, ... ORPHA:228123
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Acrodermatitis Enteropathica
Anorexia, Chronic diarrhea, Short stature, Failure to thrive, Poor appetite, Malabsorption, Weigh... ORPHA:37
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis OMIM:615947
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Cachexia, Chronic diarrhea, Malabsorption, Hemiplegia ORPHA:3217
Relapsing Fever
Diarrhea, Abdominal pain, Vomiting ORPHA:91547
Lissencephaly 2
Hypoplasia of the pons, Cerebellar hypoplasia OMIM:257320
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis ORPHA:2575
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Leukocytosis, Orchitis, Splenomegaly, Peritonitis ORPHA:32960
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Accessory spleen, Clitoral hypoplasia, Hypoplasia of the uterus, Hypoplastic ... OMIM:618419
Chédiak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnor... ORPHA:167
Meckel Syndrome 14
Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus OMIM:619879
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Abnormal social behavior, Memory impairment, Short attenti... ORPHA:309271
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus OMIM:615363
Congenital Syphilis
Pancreatitis, Anemia, Lymphadenopathy, Prolonged neonatal jaundice, Hepatosplenomegaly, Thrombocy... ORPHA:499009
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea, Failure to thrive OMIM:619484
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Ulcerative colitis, Crohn's disease, Colitis OMIM:618394
Helsmoortel-Van Der Aa Syndrome
Episodic vomiting, Gastroesophageal reflux, Chronic diarrhea, Facial palsy, Constipation, Failure... OMIM:615873
Distal Renal Tubular Acidosis
Diarrhea, Vomiting, Constipation, Poor appetite, Short stature, Failure to thrive, Growth delay, ... ORPHA:18
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Aplasia of the uterus, Anemia, Micropenis OMIM:614083
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Splenomegaly, Peritonitis, Orchitis ORPHA:342
Holoprosencephaly 14
Periventricular heterotopia, Partial agenesis of the corpus callosum, Gray matter heterotopia OMIM:619895
Turcot Syndrome With Polyposis
Melena, Diarrhea, Abdominal pain, Vomiting, Nausea, Constipation, Papilledema, Hematochezia, Ataxia ORPHA:99818
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Thrombocytopenia ORPHA:3320
Immunodeficiency 56
Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Failure to thrive, Hepatic f... OMIM:615207
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Polymicrogyria, Gray matter heterotopia, Colpocephaly, Agenesis of co... OMIM:618820
Lipodystrophy, Familial Partial, Type 7
Babinski sign, Distal sensory impairment, Orthostatic hypotension, Diarrhea, Dysdiadochokinesis, ... OMIM:606721
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dystonia, Ataxia, Myoclonus OMIM:619167
Somatostatinoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Diarrhea, Lack of bow... ORPHA:97283
Gaucher Disease, Type Iiic
Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231005
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Optic atrophy, Gastroparesis, Gastroesophageal reflux, Chronic diarrh... ORPHA:500150
Shwachman-Diamond Syndrome 2
Steatorrhea, Diarrhea, Short stature, Failure to thrive, Exocrine pancreatic insufficiency OMIM:617941
Glucagonoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Stomatitis, Diarrhea,... ORPHA:97280
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Cerebrotendinous Xanthomatosis
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Resting tremor, Chronic diarrh... ORPHA:909
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Koolen-De Vries Syndrome
Small for gestational age, Gray matter heterotopia, Short stature, Failure to thrive, Intrauterin... OMIM:610443
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain OMIM:615399
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Short attention span, Abnormal social behavior ORPHA:309263
Immunodeficiency 112
Chronic diarrhea OMIM:620449
Developmental And Epileptic Encephalopathy 50
Diarrhea, Failure to thrive, Dysphagia, Broad-based gait OMIM:616457
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... ORPHA:37042
Angioedema, Hereditary, 1
Diarrhea, Abdominal pain, Vomiting, Hypoesthesia OMIM:106100
Multiple Myeloma
Lymphadenopathy, Anemia, Splenomegaly ORPHA:29073
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Steatorrhea, Vomiting OMIM:605911
Lujo Hemorrhagic Fever
Diarrhea, Resting tremor, Fulminant hepatitis, Vomiting, Nausea, Abdominal cramps, Dysphagia, Ody... ORPHA:319213
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Hereditary Angioedema Type 1
Diarrhea, Abdominal pain, Vomiting, Nausea, Dysphagia, Paresthesia ORPHA:100050
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, Myoclonus ORPHA:98794
Refractory Celiac Disease
Chronic diarrhea, Abdominal pain, Malabsorption, Weight loss, Malnutrition ORPHA:398063
Grfoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Diarrhea, Hypoactive bowel sounds,... ORPHA:97261
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Male hypogonadism, Erectile dysfunction, Abnormal hair quantity, Decreased ferti... ORPHA:91347
Igg4-Related Submandibular Gland Disease
Prostatitis, Cholangitis, Abnormal pancreas morphology, Lymphadenopathy, Eosinophilia, Retroperit... ORPHA:449432
Alkuraya-Kucinskas Syndrome
Lissencephaly, Gray matter heterotopia, Oculomotor apraxia OMIM:617822
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Melena, Diarrhea, Abdominal pain, Cachexia, Short stature, Hematoche... ORPHA:79076
Mucopolysaccharidosis, Type Iiid
Difficulty walking, Tube feeding, Diarrhea, Short stature, Dysphagia OMIM:252940
Dominant Beta-Thalassemia
Delayed puberty, Diarrhea, Growth delay, Feeding difficulties, Failure to thrive in infancy ORPHA:231226
Familial Gestational Hyperthyroidism
Diarrhea, Hand tremor, Weight loss ORPHA:99819
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Short stature, Periventricular heterotopia OMIM:618870
Immunodeficiency 22
Diarrhea, Failure to thrive, Protracted diarrhea OMIM:615758
Smith-Lemli-Opitz Syndrome
Abdominal distention, Hypertonia, Aganglionic megacolon, Gastroesophageal reflux, Poor suck, Vomi... OMIM:270400
Lysinuric Protein Intolerance
Protein avoidance, Diarrhea, Vomiting, Nausea, Short stature, Failure to thrive, Malnutrition, Tr... OMIM:222700
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2211
Peroxisome Biogenesis Disorder 13A (Zellweger)
Polymicrogyria, Feeding difficulties, Gray matter heterotopia OMIM:614887
Mucopolysaccharidosis, Type Iiic
Diarrhea, Dysphagia OMIM:252930
Nk-Cell Enteropathy
Gastroesophageal reflux, Diarrhea, Abdominal pain, Constipation, Hematochezia ORPHA:263665
Lathosterolosis
Chiari malformation, Meningocele, Cerebellar cortical atrophy, Myoclonus ORPHA:46059
Holoprosencephaly
Optic atrophy, Gastroesophageal reflux, Chorea, Spasticity, Constipation, Abnormality of neuronal... ORPHA:2162
Bronchial Neuroendocrine Tumor
Anorexia, Bowel urgency, Poor appetite, Weight loss, Protracted diarrhea, Hepatic failure ORPHA:97287
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Splenomegaly, Polycystic ovari... OMIM:608594
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertonia, Hyperkinetic movements, Dystonia, Myoclonus, Choreoathetosis ORPHA:17
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia ORPHA:2237
Thanatophoric Dysplasia Type 1
Lethal short-limbed short stature, Gray matter heterotopia ORPHA:1860
Avian Influenza
Diarrhea, Abdominal pain, Vomiting ORPHA:454836
Van Maldergem Syndrome 2
Gray matter heterotopia, Growth delay, Feeding difficulties, Subcortical band heterotopia, Perive... OMIM:615546
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Diarrhea, Spasticity, Episodic vomiting, Myoclonus OMIM:246450
Brucellosis
Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Leukocytosis, Leukopenia, Splenomegaly, Thr... ORPHA:1304
Hurler Syndrome
Abnormal nerve conduction velocity, Chronic diarrhea, Cerebral palsy, Short stature, Growth delay... ORPHA:93473
Mucopolysaccharidosis, Type Iiib
Diarrhea OMIM:252920
Glucocorticoid Deficiency 2
Spastic tetraparesis, Myoclonus OMIM:607398
Malakoplakia
Orchitis, Prostate neoplasm, Follicular hyperplasia ORPHA:556
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries ORPHA:785
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Gastritis, Melena, Diarrhea, Abdominal pain, Abnormal c... ORPHA:73263
Mucopolysaccharidosis, Type Iiia
Diarrhea OMIM:252900
Primary Intestinal Lymphangiectasia
Functional abnormality of the gastrointestinal tract, Chronic diarrhea, Abdominal pain, Growth de... ORPHA:90362
Leukocyte Adhesion Deficiency Type Ii
Small for gestational age, Chronic diarrhea, Short stature, Lower limb hypertonia, Failure to thr... ORPHA:99843
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Myoclonus OMIM:614922
Neuroendocrine Neoplasm Of Appendix
Anorexia, Bowel urgency, Hypoactive bowel sounds, Episodic abdominal pain, Mechanical ileus, Cons... ORPHA:100079
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Diarrhea, Abdominal pain, Chronic gastritis, Esophagitis, Inflammation of the large intestine, Ch... OMIM:301074
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:331235
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Periventricular nodular heterotopia, Gray matter heterotopia, Agenesis of... OMIM:603671
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Elevated hemoglobin A1c, Splen... OMIM:269700
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Episodic vomiting, Abdominal pain, Failure to thrive, Secretor... OMIM:619377
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Protracted diarrhea, Malabsorption, Colitis OMIM:209920
Imerslund-Grasbeck Syndrome 2
Diarrhea, Growth delay OMIM:618882
Hennekam Syndrome
Lymphadenopathy, Ascites, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphopenia ORPHA:2136
Addison Disease
Anorexia, Delayed puberty, Orthostatic hypotension, Diarrhea, Abdominal pain, Constipation, Failu... ORPHA:85138
Hyperzincemia With Functional Zinc Depletion
Diarrhea OMIM:601979
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia OMIM:607944
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85408
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia, Lower limb spasticity OMIM:620475
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Acute hepatic failure, Dysphagia, Weight l... ORPHA:36426
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Feeding difficulties OMIM:255120
Immunodeficiency 58
Recurrent aphthous stomatitis, Chronic diarrhea, Esophagitis, Short stature, Failure to thrive, D... OMIM:618131
Fructose-1,6-Bisphosphatase Deficiency
Diarrhea, Reye syndrome-like episodes, Vomiting ORPHA:348
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Gray matter heterotopia OMIM:608624
Mucopolysaccharidosis Type 3
Optic atrophy, Intermittent diarrhea, Hypertonia, Spasticity, Gait disturbance, Constipation, Voc... ORPHA:581
Nmda Receptor Encephalitis
Orthostatic tachycardia, Orthostatic hypotension, Diarrhea, Abnormal sudomotor regulation, Chorea... ORPHA:217253
African Trypanosomiasis
Somatic sensory dysfunction, Impaired proprioception, Akinesia, Difficulty walking, Paresthesia, ... ORPHA:3385
Listeriosis
Diarrhea, Abdominal pain, Tremor, Vomiting, Nausea, Hemiparesis, Ataxia, Peritonitis, Myoclonus, ... ORPHA:533
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Chronic diarrhea, Short stature, Malabsorption, Small for gestational age OMIM:601675
Diarrhea 1, Secretory Chloride, Congenital
Growth delay, Abdominal distention, Failure to thrive, Secretory diarrhea OMIM:214700
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myeloproliferati... ORPHA:3260
9P13 Microdeletion Syndrome
Hand tremor, Myoclonus ORPHA:324313
Cherubism
Submandibular lymph node enlargement OMIM:118400
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Bloody diarrhea, Enterocolitis, Hematochezia, Intrauterine growth retarda... OMIM:243150
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
Beta-Thalassemia Major
Delayed puberty, Diarrhea, Growth delay, Feeding difficulties, Failure to thrive in infancy ORPHA:231214
Mitchell-Riley Syndrome
Diarrhea, Malabsorption, Intrauterine growth retardation OMIM:615710
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext... ORPHA:90794
Cholera
Diarrhea, Abdominal pain, Vomiting, Abdominal cramps, Achlorhydria ORPHA:173
Infection-Related Hemolytic Uremic Syndrome
Gastrointestinal infarctions, Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, Vomiting,... ORPHA:544482
Autoerythrocyte Sensitization Syndrome
Diarrhea, Nausea, Gastrointestinal hemorrhage, Vomiting ORPHA:324636
Bacterial Toxic-Shock Syndrome
Diarrhea, Abdominal pain, Vomiting, Nausea, Peritonitis ORPHA:36234
Thrombocytopenia-Absent Radius Syndrome
Anemia, Aplasia of the uterus, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia, ... OMIM:274000
3-Methylglutaconic Aciduria, Type Viii
Hypertonia, Tremor, Clonus, Growth delay, Failure to thrive, Dystonia, Neonatal death OMIM:617248
Acute Radiation Syndrome
Diarrhea, Vomiting ORPHA:454831
Juvenile Polyposis Syndrome
Diarrhea, Abdominal pain, Failure to thrive, Hematochezia OMIM:174900
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Short stature, Obesity, Feeding difficulties, Gray matter heterotopia OMIM:620654
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:96263
Complement Component 5 Deficiency
Intractable diarrhea OMIM:609536
Familial Mediterranean Fever
Diarrhea, Crohn's disease, Abdominal pain, Episodic abdominal pain, Vomiting, Chronic constipatio... OMIM:249100
Immunodeficiency 82 With Systemic Inflammation
Anemia, Lymphadenopathy, Anoperineal fistula, B lymphocytopenia, Decreased proportion of naive T ... OMIM:619381
Primary Sjögren Syndrome
Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anemia, Chronic active hepatiti... ORPHA:289390
Scorpion Envenomation
Hyperkinetic movements, Tremor, Hemifacial spasm, Ataxia, Myoclonus ORPHA:466677
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Chronic diarrhea, Decreased body weight, Chronic constipation, Intrauter... OMIM:619005
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Cerebellar atrophy, Ataxia, Myoclonus, Paralysis, Tetraparesis OMIM:203700
Immunodeficiency 23
Ataxia, Cortical myoclonus, Myoclonus OMIM:615816
Multiple Endocrine Neoplasia, Type Iib
Diarrhea, Failure to thrive in infancy, Aganglionic megacolon, Constipation OMIM:162300
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Nijmegen Breakage Syndrome
Short stature, Chronic diarrhea, Abnormality of neuronal migration, Cachexia ORPHA:647
Deeah Syndrome
Impaired pain sensation, Chronic diarrhea, Decreased body weight, Short stature, Exocrine pancrea... OMIM:619004
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Steatorrhea OMIM:619481
Rothmund-Thomson Syndrome Type 1
Diarrhea, Functional abnormality of the gastrointestinal tract, Vomiting, Short stature, Growth d... ORPHA:221008
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Bifid uterus, Hypospadias, Accessory spleen OMIM:236680
Paroxysmal Cold Hemoglobinuria
Diarrhea, Nausea and vomiting ORPHA:90035
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Diarrhea, Malabsorption, Atrophic gastritis OMIM:240300
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Chronic diarrhea, Vomiting, Short stature, Growth delay OMIM:614921
Crimean-Congo Hemorrhagic Fever
Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Acute pancreatitis, Leukocytosis, Ascites,... ORPHA:99827
Ileal Neuroendocrine Tumor
Intermittent diarrhea, Episodic vomiting, Episodic abdominal pain, Nausea, Functional intestinal ... ORPHA:100078
Microvillus Inclusion Disease
Diarrhea, Abdominal distention ORPHA:2290
Ogden Syndrome
Postnatal growth retardation, Hypertonia, Torticollis, Tube feeding, Diarrhea, Vomiting, Short st... OMIM:300855
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Diarrhea, Protuberant abdomen, Short stature, Inflammation of the large intestin... ORPHA:79259
Proximal Renal Tubular Acidosis
Diarrhea, Vomiting, Failure to thrive, Short stature, Growth delay, Malabsorption, Mild postnatal... ORPHA:47159
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Diarrhea, Delayed puberty, Short stature OMIM:307200
Dyskeratosis Congenita, Autosomal Dominant 2
Short stature, Chronic diarrhea, Failure to thrive OMIM:613989
Zollinger-Ellison Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Diarrhea, Episodic abdominal pain, Esophagit... ORPHA:913
Renal Cysts And Diabetes Syndrome
Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Biliary tract abnormality, Atretic vas def... OMIM:137920
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Failure to thrive in infancy, Colitis OMIM:301220
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Myoclonic spasms ORPHA:73224
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:93932
Rothmund-Thomson Syndrome Type 2
Diarrhea, Functional abnormality of the gastrointestinal tract, Vomiting, Short stature, Growth d... ORPHA:221016
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypertonia, Myoclonus, Exaggerated startle response, Dystonia, Ankle clonus OMIM:620423
Alg9-Cdg
Rhizomelia, Torticollis, Lower limb spasticity, Gastroesophageal reflux, Diarrhea, Vomiting ORPHA:79328
Opsoclonus-Myoclonus Syndrome
Limb myoclonus, Rigidity, Ataxia, Myoclonus ORPHA:1183
Dubowitz Syndrome
Postnatal growth retardation, Gastroesophageal reflux, Episodic vomiting, Chronic diarrhea, Short... OMIM:223370
Bartter Syndrome, Type 1, Antenatal
Diarrhea, Vomiting, Failure to thrive, Constipation, Short stature, Small for gestational age, Pa... OMIM:601678
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Orthostatic hypotension, Vomiting ORPHA:230
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Diarrhea, Abdominal pain, Recurrent aphthous stomatitis, Colitis OMIM:613960
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Spastic tetraplegia, Clonus, Myoclonus OMIM:619055
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Diarrhea OMIM:619313
Immunodeficiency, Common Variable, 14
Chronic diarrhea OMIM:617765
Igg4-Related Kidney Disease
Enlarged kidney, Prostatitis, Pancreatitis, Lymphadenopathy, Sclerosing cholangitis, Lymphadeniti... ORPHA:449395
Rothmund-Thomson Syndrome
Diarrhea, Vomiting, Short stature, Nasogastric tube feeding in infancy, Small for gestational age ORPHA:2909
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Abdominal distention, Secretory diarrhea, Optic disc coloboma OMIM:270420
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, Vomiting, Peritonitis ORPHA:90038
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Immunodeficiency 25
Protracted diarrhea OMIM:610163
Sarcoidosis
Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node ... ORPHA:797
Immunodeficiency 59 And Hypoglycemia
Short stature, Chronic diarrhea, Malabsorption, Recurrent aphthous stomatitis OMIM:233600
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Glycogen Storage Disease Ia
Delayed puberty, Intermittent diarrhea, Short stature, Growth delay, Protuberant abdomen OMIM:232200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diarrhea, Chronic diarrhea, Failure to thrive OMIM:102700
Igg4-Related Ophthalmic Disease
Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Orchitis, Eosinophilia, Retroperitoneal ... ORPHA:449563
Pearson Marrow-Pancreas Syndrome
Anorexia, Steatorrhea, Chronic diarrhea, Vomiting, Failure to thrive, Exocrine pancreatic insuffi... OMIM:557000
Gitelman Syndrome
Delayed puberty, Paralysis, Diarrhea, Abdominal pain, Constipation, Failure to thrive, Nausea and... ORPHA:358
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus ORPHA:1352
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly ORPHA:667
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Steatorrhea, Gastroesophageal reflux, Chronic diarrhea, Decreased body ... OMIM:618268
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Pearson Syndrome
Postnatal growth retardation, Steatorrhea, Chronic diarrhea, Poor suck, Growth delay, Exocrine pa... ORPHA:699
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Diarrhea, Tetraplegia, Failure to thrive, Feeding difficulties, Myoclonus OMIM:618278
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Melena, Diarrhea, Abdominal pain, Decreased body weight, Vomiting, Nausea ORPHA:340
Bartter Syndrome, Type 2, Antenatal
Diarrhea, Vomiting, Failure to thrive, Constipation, Short stature, Small for gestational age, Pa... OMIM:241200
T-Cell Immunodeficiency With Thymic Aplasia
Chronic diarrhea, Failure to thrive OMIM:242700
Diamond-Blackfan Anemia 21
Short stature, Chronic diarrhea, Obesity OMIM:620072
Syndromic Diarrhea
Intractable diarrhea, Gastritis, Bloody diarrhea, Short stature, Intrauterine growth retardation,... ORPHA:84064
Multiple Endocrine Neoplasia Type 1
Hematemesis, Anorexia, Melena, Gastroesophageal reflux, Diarrhea, Abdominal pain, Cranial nerve c... ORPHA:652
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Spasticity, Ataxia, Myoclonus, Spastic tetraplegia, Spastic paraparesis OMIM:609136
Reactive Arthritis
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Inflammation of the large intestine, Wei... ORPHA:29207
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea, Hemiparesis OMIM:235400
Arima Syndrome
Optic atrophy, Ataxia, Gray matter heterotopia, Growth delay OMIM:243910
Nijmegen Breakage Syndrome
Diarrhea, Recurrent infection of the gastrointestinal tract, Intrauterine growth retardation, Sho... OMIM:251260
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:99413
Mosaic Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:99228
Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:99226
Turner Syndrome
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:881
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Steinert Myotonic Dystrophy
Inability to walk, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Diarrhea, Falls, Poo... ORPHA:273
Dubowitz Syndrome
Postnatal growth retardation, Chronic diarrhea, Short stature, Malabsorption, Intrauterine growth... ORPHA:235
Behçet Disease
Lymphadenopathy, Orchitis, Pancreatitis, Splenomegaly ORPHA:117
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar cyst, Hydrocephalus, Spasticity, Cerebellar dysplasia, Myoclonus, Cerebellar hypoplasia OMIM:253280
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Epididymitis, Cardiomegaly, Microc... OMIM:256040
Trichohepatoenteric Syndrome 1
Intractable diarrhea, Short stature, Failure to thrive, Intrauterine growth retardation, Small fo... OMIM:222470
Colchicine Poisoning
Diarrhea, Nausea, Vomiting ORPHA:31824
Orofaciodigital Syndrome Xiv
Polymicrogyria, Simplified gyral pattern, Optic disc coloboma, Periventricular heterotopia, Parti... OMIM:615948
Rat-Bite Fever
Diarrhea, Parotitis, Weight loss, Vomiting ORPHA:31205
Myoclonic Epilepsy Of Lafora 1
Apraxia, Myoclonus OMIM:254780
Wolf-Hirschhorn Syndrome
Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Biliary tract abnormali... OMIM:194190
Mednik Syndrome
Diarrhea, Growth delay OMIM:609313
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Diarrhea, Poor appetite, Intrauterine growth retardation, Failure to... ORPHA:247598
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Failure to thrive, Protracted diarrhea ORPHA:331206
Acute Liver Failure
Gastrointestinal hemorrhage, Diarrhea, Incoordination, Vomiting, Nausea, Ataxia, Pain insensitivi... ORPHA:90062
Woodhouse-Sakati Syndrome
Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr... OMIM:241080
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea OMIM:226730
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus OMIM:309801
Genitopatellar Syndrome
Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpus callosum, Feeding difficulties, Periventr... OMIM:606170
Microsporidiosis
Anorexia, Intermittent diarrhea, Chronic diarrhea, Abdominal pain, Cachexia, Vomiting, Nausea, Pe... ORPHA:2552
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Splenomegaly, Generalized lymphadenopathy OMIM:181000
Cystic Fibrosis
Steatorrhea, Diarrhea, Meconium ileus, Failure to thrive, Exocrine pancreatic insufficiency, Ileus OMIM:219700
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Lymphadenopathy, Neutrophilia in presence of infection, Abnormal lymphocy... ORPHA:99826
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Partial agenesis of the corpus callosum, Gastrostomy tube feeding in... ORPHA:434179
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Diarrhea, Short stature, Enterocolitis, Growth delay ORPHA:391487
Immunodeficiency 92
Chronic diarrhea, Esophagitis OMIM:619652
Autoinflammatory Disease, Systemic, With Vasculitis
Diarrhea, Abdominal pain, Parotitis, Failure to thrive, Intrauterine growth retardation, Colitis OMIM:620376
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy... ORPHA:322
Prader-Willi Syndrome Due To Translocation
Attention deficit hyperactivity disorder, Reduced social reciprocity, Abnormal social behavior ORPHA:177907
Cocaine Intoxication
Gastrointestinal infarctions, Abdominal pain, Bloody diarrhea, Tremor, Involuntary movements, Vom... ORPHA:90068
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Male infertility, Azoospermia, Hypergonadotropic hypogonadism, Sparse pubic hair... ORPHA:251510
Periventricular Nodular Heterotopia 9
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia, Broad-based gait OMIM:618918
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t... ORPHA:3464
Vipoma
Anorexia, Episodic abdominal pain, Abnormal gastrointestinal motility, Poor appetite, Secretory d... ORPHA:97282
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Liver Disease, Severe Congenital
Abdominal distention, Diarrhea, Chronic gastritis, Poor fine motor coordination, Vomiting, Failur... OMIM:619991
Plague
Hematemesis, Anorexia, Diarrhea, Abdominal pain, Bloody diarrhea, Vomiting, Inflammation of the l... ORPHA:707
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Pancolitis, Spasticity, Bloody diarrhea, Eosinophilic infiltration of the esophagus, Failure to t... OMIM:618213
Pagod Syndrome
Optic atrophy, Abnormality of neuronal migration, Short stature ORPHA:991
Good Syndrome
Diarrhea, Dysphagia ORPHA:169105
Immunodeficiency 87 And Autoimmunity
Necrotizing enterocolitis, Growth delay, Secretory diarrhea, Feeding difficulties, Atrophic gastr... OMIM:619573
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Gastroesophageal reflux, Diarrhea, Abdominal pain, Eosinophilic infiltration of the esophagus, Na... OMIM:147060
Multiple Endocrine Neoplasia Type 2
Abdominal distention, Aganglionic megacolon, Ganglioneuromatosis, Diarrhea, Constipation ORPHA:653
Fontaine Progeroid Syndrome
Gastroesophageal reflux, Gray matter heterotopia, Short stature, Failure to thrive, Feeding diffi... OMIM:612289
Phoar2-Enteropathy Syndrome
Secretory diarrhea OMIM:614441
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Melena, Bloody diarrhea, Hematochezia ORPHA:464321
Mowat-Wilson Syndrome
Aganglionic megacolon, Inability to walk, Broad-based gait, Impaired pain sensation, Polymicrogyr... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Inability to walk, Episodic vomiting, Broad-based gait, Impaired pain sens... ORPHA:261537
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Lysinuric Protein Intolerance
Steatorrhea, Diarrhea, Vomiting, Failure to thrive, Feeding difficulties, Hepatic failure ORPHA:470
Chronic Graft Versus Host Disease
Anorexia, Abnormal esophagus physiology, Gastroesophageal reflux, Diarrhea, Abdominal pain, Nause... ORPHA:99921
Immunodeficiency 17
Recurrent gastroenteritis, Chronic diarrhea, Failure to thrive OMIM:615607
Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Lymphadenopathy, Hemolytic anemia ORPHA:536
Blau Syndrome
Abnormality of the liver, Lymphadenopathy, Anemia, Splenomegaly ORPHA:90340
Mucoepithelial Dysplasia, Hereditary
Chronic diarrhea, Melena OMIM:158310
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Leukocytos... ORPHA:99889
Wiskott-Aldrich Syndrome
Hematemesis, Melena, Diarrhea, Chronic diarrhea, Inflammation of the large intestine, Ulcerative ... OMIM:301000
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Lafora Disease
Spasticity, Ataxia, Erratic myoclonus, Myoclonus ORPHA:501
Ehlers-Danlos Syndrome, Vascular Type
Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture OMIM:130050
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia, Retroperitoneal fibrosis, Lymphadenopathy ORPHA:79078
Immunodeficiency 47
Chronic diarrhea, Failure to thrive, Exocrine pancreatic insufficiency OMIM:300972
Multiple Endocrine Neoplasia, Type I
Diarrhea, Esophagitis OMIM:131100
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Chronic diarrhea, Vomiting, Malabsorption, Intestinal bleeding, Abdominal... ORPHA:90363
Ectodermal Dysplasia-Skin Fragility Syndrome
Short stature, Chronic diarrhea, Difficulty walking, Failure to thrive ORPHA:158668
Mucopolysaccharidosis Type 2
Optic atrophy, Decreased nerve conduction velocity, Chronic diarrhea, Short stature, Growth delay... ORPHA:580
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Aganglionic megacolon, Inability to walk, Episodic vomiting, Broad-based gait, Imp... ORPHA:261552
Leptospirosis
Jaundice, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Hepatitis ORPHA:509
Neutral Lipid Storage Disease With Myopathy
Fasciculations OMIM:610717
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Failure to thrive OMIM:601495
Diarrhea 10, Protein-Losing Enteropathy Type
Secretory diarrhea, Hematochezia, Feeding difficulties OMIM:618183
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... OMIM:201750
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Chronic diarrhea, Short stature, Growth delay, Papilledema ORPHA:217085
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior, Memory impairment ORPHA:314647
Koolen-De Vries Syndrome Due To A Point Mutation
Attention deficit hyperactivity disorder, Inappropriate laughter, Abnormal social behavior, Overf... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Inappropriate laughter, Abnormal social behavior, Overf... ORPHA:363958
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Chronic diarrhea, Short stature, Growth delay, Papilledema ORPHA:217093
Peutz-Jeghers Syndrome
Abdominal pain, Bloody diarrhea, Intestinal bleeding OMIM:175200
Sapho Syndrome
Steatorrhea, Chronic diarrhea, Abdominal pain, Inflammation of the large intestine, Malabsorption ORPHA:793
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Abdominal distention, Bloody diarrhea ORPHA:436252
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Growth delay, Failure to thrive, Hematochezia ORPHA:2929
Occipital Horn Syndrome
Growth delay, Chronic diarrhea, Orthostatic hypotension OMIM:304150
Multiple Endocrine Neoplasia Type 4
Diarrhea, Esophagitis, Episodic abdominal pain ORPHA:276152
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias OMIM:135900
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Secretory diarrhea OMIM:167100
Wiskott-Aldrich Syndrome
Hematemesis, Chronic diarrhea, Hematochezia, Inflammation of the large intestine ORPHA:906
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intermittent diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Feeding difficulties... ORPHA:2255
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Failure to thrive in infancy ORPHA:35078
Kawasaki Disease
Nausea and vomiting, Abdominal pain, Diarrhea ORPHA:2331
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Neutral Lipid Storage Myopathy
Fasciculations ORPHA:98908
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism OMIM:276820
Yellow Fever
Hematemesis, Diarrhea, Abdominal pain, Vomiting, Nausea ORPHA:99829
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Cryptorchi... OMIM:107480
Ectodermal Dysplasia And Immunodeficiency 2
Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Failure to thrive OMIM:612132
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Meconium Ileus
Chronic diarrhea, Meconium ileus OMIM:614665
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Aspartylglucosaminuria
Diarrhea, Spasticity, Short stature OMIM:208400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Abdominal distention, Gastrointestinal inflammation, Oral-pharyngeal dysphagia, Diarrhe... ORPHA:95455
Mend Syndrome
Abnormal social behavior ORPHA:401973
Tuberous Sclerosis Complex
Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:805
Leukocyte Adhesion Deficiency, Type I
Chronic diarrhea OMIM:116920
Omphalocele Syndrome, Shprintzen-Goldberg Type
Chronic diarrhea, Feeding difficulties in infancy, Gastroesophageal reflux ORPHA:3164
Peters-Plus Syndrome
Bilobate gallbladder, Hypospadias, Clitoral hypoplasia, Biliary tract abnormality, Hypoplasia of ... OMIM:261540
Viss Syndrome
Abdominal distention, Gastroesophageal reflux, Chronic diarrhea, Chronic gastritis, Short stature... OMIM:619472
Norrie Disease
Uterine rupture, Cryptorchidism ORPHA:649
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism ORPHA:286
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Small scrotum... OMIM:601803
Neonatal Inflammatory Skin And Bowel Disease
Recurrent gastroenteritis, Bloody diarrhea ORPHA:294023
Peters Plus Syndrome
Cryptorchidism, Hypoplasia of the uterus, Hypospadias, Clitoral hypoplasia ORPHA:709
Williams Syndrome
Attention deficit hyperactivity disorder, Abnormal social behavior, Overfriendliness ORPHA:904
Proteus Syndrome
Cachexia, Gray matter heterotopia ORPHA:744
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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter