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Gene: Reln MGI:103022

Gene Summary

Name:

reelin

Synonyms:

N/A

Order Alleles

IMPC Data Collections

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	Allele	Zyg	Life Stage
enlarged lymph nodes	Reln^em1(IMPC)Mbp	HET	Early adult
male infertility	Reln^em1(IMPC)Mbp	HOM	Early adult
enlarged spleen	Reln^em1(IMPC)Mbp	HET	Early adult
abnormal spleen morphology	Reln^em1(IMPC)Mbp	HET	Early adult
abnormal uterus morphology	Reln^em1(IMPC)Mbp	HET	Early adult
abnormal lymph node morphology	Reln^em1(IMPC)Mbp	HET	Early adult
female infertility	Reln^em1(IMPC)Mbp	HOM	Early adult
abnormal skin morphology	Reln^em1(IMPC)Mbp	HET	Early adult
hydrometra	Reln^em1(IMPC)Mbp	HET	Early adult
preweaning lethality, incomplete penetrance	Reln^em1(IMPC)Mbp	HOM	Early adult

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

41 Images

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X-ray

XRay Images Whole Body Dorso Ventral

79 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Reln mutations

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

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

Human diseases associated with Reln (4 diseases)
Human diseases predicted to be associated with Reln (2100 diseases)

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

Disease	Matching phenotypes	Source
Lissencephaly Syndrome, Norman-Roberts Type	Intrauterine growth retardation, Agenesis of corpus callosum, Abnormality of neuronal migration, ...	ORPHA:89844
Lissencephaly 2	Cerebellar hypoplasia, Hypoplasia of the pons	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	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	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	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	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Spermatogenic Failure 17	Male infertility	OMIM:617214
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity	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	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	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	Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ...	ORPHA:98769
Spinocerebellar Ataxia 37	Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls	OMIM:615945
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor	ORPHA:217012
Spinocerebellar Ataxia Type 5	Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech	ORPHA:98766
Spinocerebellar Ataxia 43	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,...	OMIM:617018
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor	ORPHA:423296
Spinocerebellar Ataxia 41	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait	OMIM:616410
Cerebral Palsy, Ataxic, Autosomal Recessive	Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy	OMIM:605388
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Spastic Paraplegia 62, Autosomal Recessive	Spasticity, Fasciculations, Abnormal cerebellum morphology, Ankle clonus, Hoffmann sign, Babinski...	OMIM:615681
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, 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	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ...	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
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro...	ORPHA:464440
Lissencephaly, X-Linked, 1	Spasticity, Postnatal growth retardation, Agenesis of corpus callosum, Ataxia, Pachygyria, Agyria...	OMIM:300067
Spinocerebellar Ataxia 45	Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:617769
Tremor, Hereditary Essential, 6	Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor	OMIM:618866
Spinocerebellar Ataxia Type 30	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia	ORPHA:211017
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy	ORPHA:458798
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a...	ORPHA:94122
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Inability to walk, Truncal ataxia, Cerebellar ataxia associated with quadrupedal gait, Cerebellar...	OMIM:615268
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility	OMIM:619009
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Epilepsy, Progressive Myoclonic, 11	Cerebellar vermis hypoplasia, Cerebellar atrophy, Myoclonus, Rigidity, Ataxia, Intention tremor	OMIM:618876
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Autosomal Recessive Spastic Paraplegia Type 32	Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim...	ORPHA:171622
Dystonia 23	Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dystonia, Torticollis, Writer's ...	OMIM:614860
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Autosomal Spastic Paraplegia Type 30	Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s...	ORPHA:101010
Autosomal Recessive Spastic Paraplegia Type 71	Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait	ORPHA:401840
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Spinocerebellar Ataxia, Autosomal Recessive 24	Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:617133
Spinocerebellar Ataxia Type 37	Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo...	ORPHA:363710
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Amyotrophic Lateral Sclerosis 3	Cerebellar atrophy	OMIM:606640
Episodic Kinesigenic Dyskinesia 2	Dystonia, Chorea, Involuntary movements, Paroxysmal dyskinesia	OMIM:611031
Hydrocephaly-Cerebellar Agenesis Syndrome	Cerebellar agenesis, Ataxia	ORPHA:1397
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy...	OMIM:610245
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Inability to walk, Cerebellar atrophy, Ataxia	OMIM:619333
Epilepsy, Progressive Myoclonic 7	Myoclonus, Cerebellar atrophy, Tremor, Ataxia	OMIM:616187
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Dystonia 31	Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Parkins...	OMIM:619565
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spinocerebellar Ataxia 31	Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia	OMIM:117210
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Dentatorubral-Pallidoluysian Atrophy	Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Dystonia, Choreoathetosis	OMIM:125370
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Tremor Of Intention, Ataxia, And Lipofuscinosis	Intention tremor, Ataxia	OMIM:190200
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Hyperprolactinemia	Oligomenorrhea, Female infertility, Menorrhagia	OMIM:615555
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk...	OMIM:615768
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spastic Paraplegia 32, Autosomal Recessive	Spastic paraplegia, Cerebellar atrophy, Difficulty walking, Ankle clonus, Babinski sign, Lower li...	OMIM:611252
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Ataxia, Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Impaired dista...	OMIM:619742
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr...	ORPHA:276193
Intellectual Developmental Disorder, Autosomal Recessive 6	Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor	OMIM:611092
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ...	ORPHA:284332
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia	OMIM:611694
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spinocerebellar Ataxia 38	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia	OMIM:615957
Tremor, Hereditary Essential, 2	Upper limb postural tremor, Kinetic tremor	OMIM:602134
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
Spinocerebellar Ataxia 35	Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o...	OMIM:613908
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Autosomal Recessive Spastic Paraplegia Type 67	Progressive spastic paraplegia, Difficulty walking, Agenesis of corpus callosum, Babinski sign, L...	ORPHA:401820
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at...	OMIM:616948
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis	OMIM:607458
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619528
Dystonia 22, Adult-Onset	Upper limb postural tremor, Retrocollis, Babinski sign, Torticollis, Focal dystonia	OMIM:620456
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spinocerebellar Ataxia, Autosomal Recessive 25	Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia	OMIM:617584
Episodic Kinesigenic Dyskinesia 3	Involuntary movements, Dystonia, Choreoathetosis, Torticollis	OMIM:620245
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab...	ORPHA:101110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Cerebellar dysplasia, Neural tube defect	OMIM:615041
Dystonia 6, Torsion	Laryngeal dystonia, Limb dystonia, Myoclonus, Lingual dystonia, Torticollis, Writer's cramp, Tors...	OMIM:602629
Spermatogenic Failure 32	Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Male infertility	OMIM:619831
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria...	OMIM:616291
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Truncal ataxia, U...	ORPHA:314978
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Episodic Ataxia, Type 8	Ataxia, Slurred speech, Intention tremor, Episodic ataxia	OMIM:616055
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:617960
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia	OMIM:141500
Lissencephaly 4	Lissencephaly, Agenesis of corpus callosum, Babinski sign, Colpocephaly, Hypertonia, Short statur...	OMIM:614019
Spermatogenic Failure 63	Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria...	ORPHA:98762
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Azoospermia, Male infertility	OMIM:619145
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Paroxysmal Non-Kinesigenic Dyskinesia	Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma...	ORPHA:98810
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Spinocerebellar Ataxia Type 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebella...	ORPHA:423275
Myoclonus-Dystonia Syndrome	Spinal myoclonus, Limb myoclonus, Myoclonus, Torticollis, Writer's cramp, Dystonia	ORPHA:36899
Sub-Cortical Nodular Heterotopia	Spasticity, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Subco...	ORPHA:101029
Spinocerebellar Ataxia 12	Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiado...	OMIM:604326
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Lissencephaly 3	Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosum, Ataxia, Pachygy...	OMIM:611603
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus	OMIM:616921
Autosomal Recessive Spastic Paraplegia Type 69	Progressive spastic paraplegia, Hand tremor, Agenesis of corpus callosum, Lower limb spasticity, ...	ORPHA:401830
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility	OMIM:618110
Spinocerebellar Ataxia 11	Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel...	OMIM:604432
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Cerebellar atrophy, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Ab...	OMIM:607317
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Bab...	OMIM:611302
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady...	OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor	OMIM:608029
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem...	ORPHA:98763
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor	ORPHA:308
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction	Spasticity, Cerebellar atrophy, Spastic tetraparesis, Gait disturbance, Dystonia	OMIM:620515
Segawa Syndrome, Autosomal Recessive	Myoclonus, Limb dystonia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor func...	OMIM:605407
X-Linked Spinocerebellar Ataxia Type 4	Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	ORPHA:85292
Premature Ovarian Failure 22	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:620548
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a...	OMIM:613728
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Developmental And Epileptic Encephalopathy 37	Spasticity, Cerebellar atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic move...	OMIM:616981
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Kinetic tremor, Tremor	OMIM:611808
Spinocerebellar Ataxia 29	Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C...	OMIM:117360
Ceroid Lipofuscinosis, Neuronal, 8	Myoclonus, Cerebellar atrophy, Ataxia	OMIM:600143
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis	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, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Park...	OMIM:260300
Autosomal Spastic Paraplegia Type 72	Spastic gait, Postural tremor, Impaired vibration sensation at ankles, Rigidity	ORPHA:401849
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Asherman Syndrome	Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O...	ORPHA:137686
Dystonia 15, Myoclonic	Dystonia, Myoclonus, Writer's cramp	OMIM:607488
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Dysmetria, Unsteady gait, Intent...	OMIM:615386
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal...	ORPHA:79262
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Frequent falls, Hemiballismus, Tremor	ORPHA:494526
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Agenesis of corpus callosum, Dystonia, Clum...	ORPHA:453521
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Unsteady gait, Gait ataxia, Ataxia	OMIM:615705
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai...	OMIM:213200
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Spinocerebellar Ataxia 50	Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, Action tremor,...	OMIM:620158
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia	ORPHA:2589
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Dystonia 24	Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia	OMIM:615034
Chudley-Mccullough Syndrome	Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus callosum, Hydrocephalus, Partial a...	OMIM:604213
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys...	OMIM:616127
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Cerebellar atrophy, Abnormal posturing, Generalized dystonia, Inability to walk, T...	OMIM:128100
Spastic Paraplegia 30, Autosomal Dominant	Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti...	OMIM:610357
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Spastic tetraplegia, Intrauterine growth retardation, Pachygyria, Agyria, Gray matter heterotopia...	OMIM:615411
Spinocerebellar Ataxia, Autosomal Recessive 12	Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Babinski sig...	OMIM:614322
Dystonia 22, Juvenile-Onset	Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ...	OMIM:620453
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, Gait...	OMIM:610185
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Abnormal cerebellum morphology, Myoclonus, Abnormality of extrapyramidal motor function, Parkinso...	OMIM:162350
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia	ORPHA:309169
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, Gait ataxia,...	ORPHA:512260
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Cerebellar atrophy, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinso...	ORPHA:521406
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia	OMIM:618387
Pontocerebellar Hypoplasia, Type 1E	Cerebellar hypoplasia, Myoclonus, Cerebellar atrophy, Hypoplasia of the pons	OMIM:619303
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ...	ORPHA:284324
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr...	OMIM:617145
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy	OMIM:617643
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Cerebellar Ataxia, Cayman Type	Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Dystonia, Ataxia, Trunc...	OMIM:601238
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Bradykinesia, Incoordination, Postural tremor, Gait ataxia, Cogwheel ...	OMIM:128230
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal sensory impairment, Tremor	OMIM:614369
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr...	OMIM:618090
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development	Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl...	OMIM:607565
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent...	OMIM:614831
Parkinson Disease 17	Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo...	OMIM:301101
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T...	ORPHA:99657
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Huntington Disease-Like 1	Involuntary movements, Cerebellar atrophy, Abnormal posturing, Incoordination, Chorea, Gait ataxi...	ORPHA:157941
Epilepsy, Progressive Myoclonic, 8	Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Truncal at...	OMIM:616230
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Limb ataxia, Babinski sign, Progressive gait ataxia, Truncal ataxia, Progress...	ORPHA:101112
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Trun...	OMIM:607346
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Myoclonus, Familial, 2	Dystonia, Limb myoclonus	OMIM:618364
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hyperton...	OMIM:619738
Myoclonus, Cerebellar Ataxia, And Deafness	Myoclonus, Ataxia	OMIM:159800
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function,...	OMIM:615362
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria	OMIM:617770
Spinocerebellar Ataxia 27B, Late-Onset	Postural tremor, Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:620174
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Cerebellar atrophy, Action tremor, Rigidity, Babinski sign, Parkinsonism, Impa...	OMIM:300423
Spinocerebellar Ataxia 48	Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, ...	OMIM:618093
X-Linked Progressive Cerebellar Ataxia	Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Babinski sign, Progressive g...	ORPHA:1175
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dyston...	ORPHA:71517
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Spinocerebellar Ataxia 4	Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel...	OMIM:600223
Creutzfeldt-Jakob Disease	Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Myoclonus, Hemipar...	OMIM:123400
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, At...	OMIM:619028
Intellectual Developmental Disorder, Autosomal Dominant 69	Intention tremor	OMIM:617863
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia	OMIM:617916
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait	ORPHA:284271
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ...	ORPHA:98764
Dystonia 16	Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia	ORPHA:210571
Spastic Paraplegia 78, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Falls, Resting tremor, Cerebellar atrophy, Gait...	OMIM:617225
Spinocerebellar Ataxia Type 2	Fasciculations, Chorea, Postural tremor, Gait ataxia, Dystonia, Parkinsonism, Cerebellar Purkinje...	ORPHA:98756
Premature Ovarian Failure 13	Amenorrhea, Oligomenorrhea, Female infertility	OMIM:617442
Infantile Spasms Syndrome	Myoclonus	ORPHA:3451
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Autosomal Spastic Paraplegia Type 58	Spasticity, Cerebellar atrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia...	ORPHA:397946
Spinocerebellar Ataxia 42	Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast...	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	Cerebellar dentate nucleus calcification, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Par...	OMIM:213600
Leukodystrophy, Hypomyelinating, 11	Spasticity, Cerebellar atrophy, Myoclonus, Tremor, Ataxia	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	Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Gait ataxia, Intenti...	OMIM:224050
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag...	OMIM:220200
Chorea, Benign Familial	Chorea	OMIM:215450
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, Ataxia, Dy...	OMIM:256731
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Spastic paraplegia, Optic atrophy, Inability to walk, Periventricular nodular heterotopia, Short ...	OMIM:618572
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation	OMIM:619405
Developmental And Epileptic Encephalopathy 11	Hyperkinetic movements, Spastic tetraplegia	OMIM:613721
Spinocerebellar Ataxia 14	Cerebellar atrophy, Gait ataxia, Dysmetria, Focal dystonia, Impaired vibration sensation at ankle...	OMIM:605361
Ataxia, Sensory, 1, Autosomal Dominant	Sensory ataxia, Abnormal cerebellum morphology, Positive Romberg sign, Gait ataxia, Babinski sign...	OMIM:608984
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Myoclonus	OMIM:217200
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s...	OMIM:616204
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal pyramidal sign, Upper motor neuron ...	ORPHA:95434
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Limb ataxia, Tremor, Babinsk...	ORPHA:251282
Premature Ovarian Failure 20	Female infertility, Secondary amenorrhea	OMIM:619938
Spinocerebellar Ataxia 26	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:609306
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Stxbp1-Related Encephalopathy	Spasticity, Inability to walk, Tremor, Dysplastic corpus callosum, Ataxia, Dystonia, Spastic tetr...	ORPHA:599373
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Intrauterine growth retardation, Obesity, Limb dystonia, Tremor, Cerebellar hypoplasia, Ataxia	OMIM:620270
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or...	ORPHA:420485
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia	OMIM:605909
Mast Syndrome	Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Incoordination, Babinski sign, Aprax...	OMIM:248900
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Spinocerebellar Ataxia Type 29	Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom...	ORPHA:208513
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Gait at...	OMIM:616719
Isochromosomy Yp	Azoospermia, Male infertility	ORPHA:98797
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619949
Spinocerebellar Ataxia 44	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis	OMIM:617691
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi...	OMIM:617633
Spinocerebellar Ataxia 7	Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig...	OMIM:164500
Spinocerebellar Ataxia 49	Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ...	OMIM:619806
Polymyoclonus, Infantile	Myoclonus, Ataxia	OMIM:263550
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Hand tremor, Babinski sign, Apraxia...	OMIM:615889
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
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Chorea, Childhood-Onset, With Psychomotor Retardation	Involuntary movements, Chorea	OMIM:616939
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Short stature, Truncal ataxia	OMIM:276880
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Truncal a...	ORPHA:352403
Kerion Celsi	Lymphadenopathy	ORPHA:499
Epilepsy, Familial Adult Myoclonic, 4	Myoclonus, Tremor	OMIM:615127
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618412
Spinal Muscular Atrophy, Jokela Type	Distal sensory impairment, Tremor, Fasciculations	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	Spasticity, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Gray matte...	OMIM:600348
Glutathionuria	Action tremor, Tremor, Agenesis of corpus callosum, Constipation, Gray matter heterotopia, Dysdia...	OMIM:231950
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi...	OMIM:609270
Progressive Myoclonic Epilepsy With Dystonia	Diffuse cerebellar atrophy, Hemiplegia, Myoclonus, Hemiparesis, Abnormality of extrapyramidal mot...	ORPHA:352596
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Spasticity, Cerebellar atrophy, Positive Romberg sign, Dysmetria, Loss of ambulation, Babinski si...	OMIM:618088
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Combined Saposin Deficiency	Hyperkinetic movements, Babinski sign, Myoclonus, Fasciculations	OMIM:611721
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia	OMIM:614229
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Lissencephaly 1	Pachygyria, Spastic tetraparesis, Agyria, Gray matter heterotopia, Subcortical band heterotopia, ...	OMIM:607432
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Chorea, Writer's cramp, Dystonia, Athetosis	ORPHA:98809
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ...	ORPHA:139485
Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Bradykinesia, Progressive ext...	ORPHA:454887
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Spinocerebellar Ataxia Type 21	Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor fun...	ORPHA:98773
Developmental Delay And Seizures With Or Without Movement Abnormalities	Tremor, Rigidity, Chiari type I malformation, Dystonia, Ataxia, Bradykinesia	OMIM:617836
Dystonia 7, Torsion	Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu...	OMIM:602124
Glycosylphosphatidylinositol Biosynthesis Defect 15	Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria, Cerebellar hyp...	OMIM:617810
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt...	ORPHA:1170
Spinocerebellar Ataxia 5	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ...	OMIM:600224
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Spinocerebellar Ataxia Type 17	Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Parkinson...	ORPHA:98759
Autosomal Recessive Spastic Paraplegia Type 70	Lower limb spasticity, Progressive spastic paraplegia, Hand tremor	ORPHA:401835
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Myoclonus, Ataxia	OMIM:208700
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Behr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance...	OMIM:210000
Benign Adult Familial Myoclonic Epilepsy	Myoclonus, Hand tremor	ORPHA:86814
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Br...	ORPHA:306669
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Spinocerebellar Ataxia Type 28	Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Babinski si...	ORPHA:101109
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Spasticity, Pachygyria, Agyria, Gray matter heterotopia, Feeding difficulties	ORPHA:1084
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Spermatogenic Failure 38	Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella...	OMIM:618433
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Myoclonus, Hand tremor, Writer's cramp	OMIM:608105
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower...	OMIM:600363
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, 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, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation	ORPHA:98771
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Myoclonus, Tremor	OMIM:615400
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower l...	OMIM:618598
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia	OMIM:183050
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Inability to walk, Cerebellar vermis atrophy, Chorea, Gait ataxia, Dysmetria, Ataxia	OMIM:618501
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Hyperkinetic movements, Dystonia, ...	OMIM:617493
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia, Failure to thrive, Tetraparesis	OMIM:608097
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston...	OMIM:617284
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Premature Ovarian Failure 6	Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ...	OMIM:612310
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus	OMIM:604827
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Limb myoclonus, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Ga...	OMIM:619862
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia, Growth delay, Small for gestational age	OMIM:278780
Striatonigral Degeneration, Infantile, Mitochondrial	Poor motor coordination, Incoordination, Chorea, Myoclonus, Babinski sign, Clonus, Lingual dyston...	OMIM:500003
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Cerebellar vermis atrophy, Dilated fourth ventricle, Limb dystonia, Babinski sign, Torticollis, A...	OMIM:619054
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Abnormal cerebellum morphology, Tremor	OMIM:190310
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Juvenile Huntington Disease	Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia...	ORPHA:248111
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Spasticity, Cerebellar atrophy, Limb ataxia, Limb dystonia, Abnormal pyramidal sign, Head titubat...	OMIM:617560
Huntington Disease	Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Bradykinesia	OMIM:143100
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia	OMIM:615924
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Bradykinesia, Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favo...	ORPHA:314632
Spinocerebellar Ataxia 28	Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Babinski s...	OMIM:610246
Developmental And Epileptic Encephalopathy 69	Hyperkinetic movements, Dystonia, Myoclonus, Spastic tetraplegia	OMIM:618285
Pontocerebellar Hypoplasia, Type 4	Loss of Purkinje cells in the cerebellar vermis, Spasticity, Hypoplasia of the pons, Myoclonus, C...	OMIM:225753
Epilepsy, Progressive Myoclonic, 9	Gait ataxia, Myoclonus, Agenesis of corpus callosum, Action myoclonus, Frequent falls	OMIM:616540
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T...	ORPHA:420492
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
Spinocerebellar Ataxia 34	Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Abnor...	OMIM:133190
Restless Legs Syndrome, Susceptibility To, 1	Myoclonus	OMIM:102300
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Ataxia-Telangiectasia-Like Disorder	Cerebellar vermis hypoplasia, Cerebellar atrophy, Dilated fourth ventricle, Chorea, Myoclonus, Ga...	ORPHA:251347
Dystonia 12	Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia	OMIM:128235
Autosomal Recessive Primary Microcephaly	Growth delay, Pachygyria, Agenesis of corpus callosum, Short stature, Gray matter heterotopia	ORPHA:2512
Spinocerebellar Ataxia 8	Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere...	OMIM:608768
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Impaired vibratory sensation, Spasticity, Cerebellar vermis hypoplasia, Cerebellar atrophy, Diffi...	ORPHA:98
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Cerebellar atrophy, Myoclonus, Cerebellar hypoplasia, Ataxia, Erratic myoclonus, Spastic tetraplegia	OMIM:619971
Intellectual Developmental Disorder With Autism And Speech Delay	Reduced social reciprocity	OMIM:606053
Spastic Paraplegia 85, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Impaired temperature sensat...	OMIM:619686
Spastic Paraplegia 46, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Hand tremor, Impaired vibra...	OMIM:614409
Spinocerebellar Ataxia 17	Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Myoclonus, Dysm...	OMIM:607136
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Abnormal social behavior	ORPHA:436151
Neuroectodermal Melanolysosomal Disease	Spasticity, Tremor, Rigidity, Cerebellar hypoplasia, Hypertonia, Ataxia, Abnormal cerebellar verm...	ORPHA:33445
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Microlissencephaly	Polymicrogyria, Periventricular heterotopia, Hypertonia, Pachygyria, Subcortical heterotopia, Lis...	ORPHA:1083
Rabies	Vocal cord paresis, Diarrhea, Cerebral palsy, Paresthesia, Nausea and vomiting, Anorexia	ORPHA:770
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Cerebellar atrophy, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia	ORPHA:329284
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Cerebellar dentate nucleus calcification, Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyr...	OMIM:618317
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Impaired vibratory sensation, Gait ataxia, Intention tremor, Lower limb spasticity, Sensory ataxia	OMIM:620221
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Intrauterine growth retardation, Periventricular heterotopia, Short stature, Optic...	OMIM:616171
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si...	ORPHA:254343
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Gordon Holmes Syndrome	Chorea, Cerebellar atrophy, Ataxia	OMIM:212840
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ...	ORPHA:216873
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,...	ORPHA:98772
Spinocerebellar Ataxia Type 36	Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Limb myoclonus, Hand trem...	ORPHA:276198
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Spasticity, Oculogyric crisis, Cerebellar atrophy, Chorea, Myoclonus, Hyperkinetic movements, Dys...	OMIM:614254
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Dystonia, Myoclonus, Tremor	OMIM:619651
Lactose Intolerance, Adult Type	Lactose intolerance, Abdominal pain, Diarrhea, Flatulence	OMIM:223100
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Cerebellar atrophy, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsiness, Myocl...	ORPHA:79263
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria...	ORPHA:93952
Valinemia	Hyperkinetic movements	OMIM:277100
Spastic Paraplegia 70, Autosomal Recessive	Spasticity, Ankle clonus, Fasciculations	OMIM:620323
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia	OMIM:612016
Glut1 Deficiency Syndrome 1	Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreo...	OMIM:606777
Boucher-Neuhauser Syndrome	Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Spin...	OMIM:215470
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Tremor, Dystonia	ORPHA:330050
Maternal Hyperthermia-Induced Birth Defects	Short stature, Intrauterine growth retardation, Abnormality of neuronal migration, Hypertonia	ORPHA:2216
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Lateral ventricle dilatation, Cogwheel rigidity,...	ORPHA:363654
Joubert Syndrome 25	Cerebellar hypoplasia, Oculomotor apraxia, Ataxia	OMIM:616781
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:240103
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Polymicrogyria, Hemiparesis, Agenesis of corpus callosum, Pachygyri...	ORPHA:300573
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Postural tremor, Li...	OMIM:183090
Cyanide-Induced Parkinsonism-Dystonia	Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad...	ORPHA:306692
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Cerebellar atrophy, Resting tremor, Incoordination, Limb fasciculations, Lim...	OMIM:615157
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Progressive spastic paraplegia, Babinski sign, Gait disturbance, Ataxia	OMIM:612020
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility	OMIM:301060
Leukodystrophy, Hypomyelinating, 6	Spasticity, Cerebellar atrophy, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoath...	OMIM:612438
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Progressive extrapyramidal muscular rigidity, Abnormal posturing, Hemiplegia, Cho...	ORPHA:225147
Pontocerebellar Hypoplasia Type 4	Myoclonus, Olivopontocerebellar hypoplasia, Hypertonia	ORPHA:166063
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Distal sensory...	OMIM:302800
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Progressive cerebellar ataxia, Cerebellar atrophy, Difficulty walking, Impaired vibration sensati...	ORPHA:137898
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Spastic ataxia, Oculom...	OMIM:614487
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Failure to thrive, Polymicrogyria, Hemiparesis, Abnormality of neuronal migration, Hypertonia, Pa...	OMIM:604317
Lopes-Maciel-Rodan Syndrome	Spasticity, Cerebellar atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor, Ankle clonus, Dy...	OMIM:617435
Spinocerebellar Ataxia 13	Spasticity, Cerebellar atrophy, Limb ataxia, Limb dysmetria, Myoclonus, Gait ataxia, Abnormal pyr...	OMIM:605259
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Classic Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Tip-toe gait, Generalized dystonia, Abnormal posturing, Inability to walk, Opisthoton...	ORPHA:216866
Symmetrical Thalamic Calcifications	Spasticity, Failure to thrive, Abnormality of neuronal migration, Hypertonia, Ataxia	ORPHA:1314
Epilepsy, Familial Adult Myoclonic, 1	Tremor	OMIM:601068
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d...	OMIM:606703
Pontocerebellar Hypoplasia, Type 1A	Tongue fasciculations, Hypoplasia of the pons, Hand tremor, Fasciculations, Lateral ventricle dil...	OMIM:607596
Peroxisome Biogenesis Disorder 8B	Spasticity, Spastic paraparesis, Cerebellar atrophy, Tip-toe gait, Cerebellar vermis atrophy, Gai...	OMIM:614877
Spinocerebellar Ataxia 6	Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of ambulation, Ataxia, Trunca...	OMIM:183086
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist...	ORPHA:276435
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Impaired vibratory sensation, Cerebellar atrophy, Distal sensory impairment, Steppage gait, Ataxi...	OMIM:607250
Ataxia-Telangiectasia-Like Disorder 1	Dysdiadochokinesis, Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Dystonia, Lower limb spas...	OMIM:604391
Spastic Ataxia 3, Autosomal Recessive	Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Loss of ambula...	OMIM:611390
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ...	OMIM:208920
Spinocerebellar Ataxia, Autosomal Recessive 33	Broad-based gait, Dilated fourth ventricle, Gait ataxia, Cerebellar hypoplasia, Head titubation, ...	OMIM:620208
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Kimura Disease	Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait	OMIM:614867
Childhood Disintegrative Disorder	Mental deterioration, Reduced social reciprocity, Social and occupational deterioration, Motor de...	ORPHA:168782
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Parkinsonism, Bradykinesia, Resting tremor, Rigidity	OMIM:614251
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Spinocerebellar Ataxia, Autosomal Recessive 27	Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic ataxia, Gait disturbance, To...	OMIM:618369
Trehalase Deficiency	Abdominal pain, Diarrhea	OMIM:612119
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia	ORPHA:324588
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Cerebellar hypoplasia,...	ORPHA:313772
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Progressive cerebellar ataxia, Cerebellar atrophy, Fasciculations, Limb ataxia, Dysmetria, Ankle ...	ORPHA:284289
Epilepsy, Familial Adult Myoclonic, 3	Myoclonus, Tremor	OMIM:613608
Phosphoserine Aminotransferase Deficiency	Cerebellar vermis hypoplasia, Myoclonus, Hypertonia	OMIM:610992
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Myoclonus, Ataxia, Frequent falls, Choreoathetosis	OMIM:301020
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid...	OMIM:600116
Alexander Disease	Spasticity, Dysmetria, Abnormal dentate nucleus morphology, Babinski sign, Hydrocephalus, Ataxia,...	OMIM:203450
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Oculogyric crisis, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality...	ORPHA:13
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:616950
Mohr-Tranebjaerg Syndrome	Dystonia, Spasticity, Abnormal posturing, Tremor	OMIM:304700
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Basal Ganglia Calcification, Idiopathic, 5	Hand tremor, Postural tremor, Chorea, Parkinsonism, Cerebellar calcifications, Athetosis	OMIM:615483
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Combined Oxidative Phosphorylation Deficiency 45	Failure to thrive, Tremor, Ataxia	OMIM:618951
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Dysmetria, Distal sensory im...	OMIM:159550
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9	Babinski sign, Hoffmann sign, Fasciculations	OMIM:620402
Autosomal Recessive Spastic Paraplegia Type 39	Spastic paraplegia, Cerebellar atrophy, Gait ataxia, Babinski sign, Lower limb spasticity	ORPHA:139480
Isochromosomy Yq	Azoospermia, Male infertility	ORPHA:98798
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Inability to...	ORPHA:391411
Progressive Myoclonic Epilepsy Type 3	Cerebellar atrophy, Limb myoclonus, Progressive truncal ataxia, Myoclonus, Chin myoclonus, Progre...	ORPHA:263516
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Dystonia, Cho...	ORPHA:71277
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Spasticity, Cerebellar atrophy, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Cerebellar hy...	ORPHA:529665
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Congenital Disorder Of Glycosylation, Type Iibb	Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Tetraparesis, Antalgic gait, Tremor	OMIM:620546
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Familial Paroxysmal Ataxia	Cerebellar vermis atrophy, Hemiplegia, Torticollis, Ataxia, Dystonia	ORPHA:97
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Tremor, Pontocerebellar atrophy, Cerebellar hypoplasia, Oculomotor apraxia, Abnor...	OMIM:618060
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ...	ORPHA:370022
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, 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
Spinal Muscular Atrophy, Ryukyuan Type	Fasciculations	OMIM:271200
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia	OMIM:108420
Parkinson Disease 19A, Juvenile-Onset	Spasticity, Pill-rolling tremor, Bradykinesia, Rigidity, Parkinsonism, Abnormal pyramidal sign, L...	OMIM:615528
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Inability to walk, Cerebellar atrophy, Gait ataxia, Ataxia	OMIM:617915
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Cerebellar dysplasia, Gait imbalance, Abnor...	ORPHA:101070
Spastic Paraplegia 79B, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Tetraparesis, Fasciculation...	OMIM:615491
Parkinsonism With Polyneuropathy	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:619279
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100024
Dystonia 26, Myoclonic	Blepharospasm, Laryngeal dystonia, Myoclonus, Torticollis, Dystonia	OMIM:616398
Developmental And Epileptic Encephalopathy 32	Myoclonus, Tremor, Ataxia	OMIM:616366
Lissencephaly 6 With Microcephaly	Spasticity, Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Limb hypertonia, Pac...	OMIM:616212
Developmental And Epileptic Encephalopathy 97	Inability to walk, Tremor	OMIM:619561
Spinocerebellar Ataxia, Autosomal Recessive 28	Truncal titubation, Cerebellar vermis hypoplasia, Gait ataxia, Abnormal pyramidal sign, Poor fine...	OMIM:618800
Baker-Gordon Syndrome	Involuntary movements, Hyperkinetic movements, Ataxia, Dystonia, Athetoid cerebral palsy, Choreoa...	OMIM:618218
Spinocerebellar Ataxia 36	Tongue fasciculations, Cerebellar atrophy, Fasciculations, Incoordination, Limb ataxia, Gait atax...	OMIM:614153
Dystonia 16	Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li...	OMIM:612067
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Lissencephaly Syndrome, Norman-Roberts Type	Intrauterine growth retardation, Agenesis of corpus callosum, Abnormality of neuronal migration, ...	ORPHA:89844
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Cerebellar atrophy, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski ...	OMIM:607694
Lissencephaly, X-Linked, 2	Spasticity, Diarrhea, Agenesis of corpus callosum, Feeding difficulties in infancy, Pachygyria, L...	OMIM:300215
Hypermanganesemia With Dystonia 2	Spasticity, Cerebellar atrophy, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dysto...	OMIM:617013
Spinocerebellar Ataxia 21	Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Akinesia, Abnor...	OMIM:607454
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia	OMIM:614018
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Cerebellar dentate nucleus calcification, Tremor, Abnormal pyramidal sign, Gait distu...	ORPHA:542310
Gerstmann-Straussler Disease	Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsoni...	OMIM:137440
Autosomal Recessive Dopa-Responsive Dystonia	Oculogyric crisis, Generalized dystonia, Postural tremor, Myoclonus, Gait ataxia, Limb dystonia, ...	ORPHA:101150
Cataract-Ataxia-Deafness Syndrome	Short stature, Hypertonia, Tremor, Ataxia	ORPHA:1368
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Periventricular nodular heterotopia, Intrauterine growth retardatio...	OMIM:619737
X-Linked Dystonia-Parkinsonism	Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion...	ORPHA:53351
X-Linked Charcot-Marie-Tooth Disease Type 3	Spastic paraparesis, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Diff...	ORPHA:101077
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Classic Galactosemia	Incoordination, Speech apraxia, Postural tremor, Gait imbalance, Action tremor, Primary amenorrhe...	ORPHA:79239
Sandhoff Disease, Juvenile Form	Diarrhea, Acroparesthesia, Failure to thrive, Fasciculations, Incoordination, Abnormality of extr...	ORPHA:309162
4H Leukodystrophy	Cerebellar atrophy, Tremor, Dysmetria, Abnormality of extrapyramidal motor function, Progressive ...	ORPHA:289494
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Distal sensory impairment, ...	OMIM:609260
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Eyelid myoclonus, Myoclonus	OMIM:618357
Parkinson Disease 22, Autosomal Dominant	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:616710
Urocanic Aciduria	Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia	ORPHA:210128
Congenital Sucrase-Isomaltase Deficiency	Gastroesophageal reflux, Vomiting, Diarrhea, Abdominal colic, Failure to thrive, Nausea, Constipa...	ORPHA:35122
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia	OMIM:613909
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp...	OMIM:602450
Fragile X Tremor/Ataxia Syndrome	Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, A...	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	Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance, Ataxia	ORPHA:101078
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Babinsk...	OMIM:616505
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility, Progressive cerebellar ataxia	ORPHA:276183
Hsd10 Disease	Optic atrophy, Spastic paraparesis, Postnatal growth retardation, Myoclonus, Tremor, Rigidity, Ga...	ORPHA:391417
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxia, Distal sensory...	OMIM:603516
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Abnormal lower motor ne...	ORPHA:2590
Angioedema, Hereditary, 8	Abdominal pain, Diarrhea, Episodic vomiting	OMIM:619367
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Cerebellar atrophy, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Brad...	OMIM:300894
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Spinocerebellar Ataxia Type 8	Ataxia, Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cer...	ORPHA:98760
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Gait imbalance, Gait ataxia, Intention tremor, Dysmetria, Babinski sign, Kine...	ORPHA:98761
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Spasticity, Myoclonus, Ataxia	OMIM:545000
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Polymicrogyria With Optic Nerve Hypoplasia	Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Optic nerv...	ORPHA:250972
Isolated Splenogonadal Fusion	Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot...	ORPHA:457083
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Abnormal autonomic nervo...	OMIM:618049
Amyotrophic Lateral Sclerosis 28	Babinski sign, Chaddock reflex, Fasciculations	OMIM:620452
Subependymal Nodular Heterotopia	Acroparesthesia, Limb myoclonus, Polymicrogyria, Abnormality of neuronal migration, Gray matter h...	ORPHA:101030
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Developmental And Epileptic Encephalopathy 92	Dystonia, Spasticity, Myoclonus, Ataxia	OMIM:617829
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Intestinal Dysmotility Syndrome	Diarrhea, Decreased intestinal transit time, Failure to thrive, Projectile vomiting, Weight loss,...	OMIM:620045
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia	OMIM:618587
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Spasticity, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Decreased bo...	OMIM:614833
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Ataxia, Spasticity, Laryngeal dystonia, Bradykinesia, Chorea, Tremor, Rigidity, Ba...	OMIM:606159
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperkinetic movements, Cerebellar atrophy, Ataxia	OMIM:271980
Epilepsy, Progressive Myoclonic, 12	Myoclonus, Dysmetria, Ataxia	OMIM:619191
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno...	OMIM:193003
Huntington Disease-Like 2	Chorea, Action tremor, Rigidity, Dystonia, Weight loss, Bradykinesia	OMIM:606438
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Caribbean Parkinsonism	Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinsonism, Apraxia, Wea...	ORPHA:97355
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Distal sensory impairment, Dysmetria, Oculomotor apraxia, Ataxia, Frequent falls	OMIM:615217
Microcephaly, Amish Type	Cerebellar vermis hypoplasia, Myoclonus, Cerebellar hypoplasia, Limb hypertonia, Partial agenesis...	OMIM:607196
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Myoclonus, Babinski sign, Ataxia, Dystonia, Spastic diplegia	OMIM:619065
Cerebral Creatine Deficiency Syndrome 2	Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ...	OMIM:612736
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Hyperkinetic movements	ORPHA:397933
Alpers-Huttenlocher Syndrome	Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat...	ORPHA:726
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticol...	ORPHA:98768
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Episodic ataxia, Myoclonus, Tremor, Agenesis of corpus callosum, Letha...	OMIM:312170
Developmental And Epileptic Encephalopathy 16	Dystonia, Abnormality of extrapyramidal motor function, Myoclonus, Hemiparesis	OMIM:615338
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Decreased proportio...	OMIM:300853
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention tremor, Dysmetr...	OMIM:614381
Pyruvate Dehydrogenase E1-Beta Deficiency	Intrauterine growth retardation, Periventricular heterotopia, Agenesis of corpus callosum, Decrea...	ORPHA:255138
Mepan Syndrome	Spasticity, Hemidystonia, Cerebellar atrophy, Chorea, Myoclonus, Limb dystonia, Axial dystonia, C...	ORPHA:508093
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia,...	OMIM:261640
Gerstmann-Straussler-Scheinker Syndrome	Abnormal cerebellum morphology, Gait ataxia, Limb myoclonus, Abnormality of extrapyramidal motor ...	ORPHA:356
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hydrocephalus, Tremor, Spastic tetraparesis	OMIM:619470
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Developmental And Epileptic Encephalopathy 27	Myoclonus, Dystonia, Spasticity, Chorea	OMIM:616139
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Abnormality of extrapyramidal motor function, Myoclonus, Ataxia	OMIM:204300
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Alexander Disease Type I	Spasticity, Cerebellar atrophy, Abnormal pyramidal sign, Hydrocephalus, Ataxia, Palatal tremor	ORPHA:363717
Trehalase Deficiency	Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain	ORPHA:103909
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, Tremor, Ataxia	OMIM:617831
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Secretory Component Deficiency	Intermittent diarrhea	OMIM:269650
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Intellectual Developmental Disorder, Autosomal Recessive 48	Inability to walk, Tremor, Waddling gait	OMIM:616269
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Spasticity, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Babinski sign, Ataxia, Inte...	OMIM:612674
Multiple System Atrophy	Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi...	ORPHA:102
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen...	OMIM:619924
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr...	OMIM:602481
Developmental And Epileptic Encephalopathy 40	Spasticity, Myoclonus, Choreoathetosis, Spastic tetraparesis	OMIM:617065
Spinocerebellar Ataxia Type 1	Progressive cerebellar ataxia, Loss of Purkinje cells in the cerebellar vermis, Cerebellar atroph...	ORPHA:98755
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturba...	ORPHA:99014
Pelizaeus-Merzbacher Disease, Classic Form	Spasticity, Difficulty walking, Head tremor, Abnormality of extrapyramidal motor function, Dyston...	ORPHA:280219
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Hyperkinetic movements, Dystonia, Myoclonus, Choreoathetosis	OMIM:618497
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Involuntary movements, Cerebellar atrophy, Myoclonus, Dysmetria, Abnormal pyramidal sign	OMIM:619780
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Fasciculations	OMIM:615575
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Hirschsprung Disease	Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Nau...	ORPHA:388
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testis morphology, ...	ORPHA:54251
Machado-Joseph Disease	Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasciculations, Dilated fourth ven...	OMIM:109150
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Cerebellar vermis atrophy, Head tremor, Gait imbalance, Postural tre...	ORPHA:64753
Dystonia 34, Myoclonic	Hand tremor, Head tremor, Myoclonus, Torticollis, Writer's cramp, Dystonia	OMIM:619724
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility	OMIM:620103
Intellectual Developmental Disorder, X-Linked 104	Spasticity, Frontal upsweep of hair, Tremor, Ataxia	OMIM:300983
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Tremor, Rigidity, Hypertonia, Cerebral amyloid angiopathy	OMIM:176500
Spinocerebellar Ataxia Type 42	Upper limb postural tremor, Cerebellar atrophy, Resting tremor, Cerebellar vermis atrophy, Head t...	ORPHA:458803
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro...	OMIM:614575
Multiple System Atrophy, Cerebellar Type	Broad-based gait, Resting tremor, Autonomic bladder dysfunction, Postural tremor, Limb ataxia, Ga...	ORPHA:227510
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba...	ORPHA:247234
Poretti-Boltshauser Syndrome	Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Oculomotor apraxia,...	OMIM:615960
Brunner Syndrome	Kinetic tremor, Diarrhea	OMIM:300615
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Bradykinesia, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of...	ORPHA:99750
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykinesia, Gro...	ORPHA:70594
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Hemochromatosis, Type 2B	Hepatic fibrosis, Hypogonadism, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly	OMIM:613313
Ovarian Dysgenesis 3	Female infertility, Primary amenorrhea	OMIM:614324
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired proprioception, Clumsiness, Gait d...	OMIM:277460
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Myoclonus, Limb tremor, Hypertonia	OMIM:300699
Autosomal Recessive Spastic Paraplegia Type 48	Progressive spastic paraplegia, Myoclonus, Parkinsonism, Lower limb spasticity, Ataxia, Spastic gait	ORPHA:306511
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia,...	OMIM:618877
Ceroid Lipofuscinosis, Neuronal, 2	Myoclonus, Ataxia	OMIM:204500
Familial Infantile Bilateral Striatal Necrosis	Spasticity, Tetraparesis, Cogwheel rigidity, Myoclonus, Gait ataxia, Rigidity, Dystonia, Babinski...	ORPHA:225154
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Ceroid Lipofuscinosis, Neuronal, 3	Parkinsonism, Abnormal cerebellum morphology, Myoclonus, Abnormality of extrapyramidal motor func...	OMIM:204200
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se...	ORPHA:206594
Desmoplastic Small Round Cell Tumor	Ascites, Anemia, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Hepatomega...	ORPHA:83469
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi...	OMIM:619725
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor, Babinski sign	ORPHA:477673
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Dystoni...	OMIM:606693
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration, Intrauterine growth retardation	ORPHA:1980
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Abnormal peripheral action p...	ORPHA:90117
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Broad-based gait, Generalized dystonia, Inability to walk, Cerebellar vermis ...	OMIM:312080
Gillespie Syndrome	Cerebellar atrophy, Postural tremor, Cerebellar hypoplasia, Ataxia, Slurred speech	OMIM:206700
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio...	ORPHA:240085
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ...	ORPHA:101
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi...	ORPHA:98933
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Dysdiadochokinesis, Gait ataxia, Dysmetria, Babinski sign, Vestibular areflexia, Intention tremor...	ORPHA:504476
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Atypical Rett Syndrome	Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ...	ORPHA:3095
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Pontocerebellar atroph...	OMIM:606002
Amyotrophic Lateral Sclerosis 18	Spasticity, Fasciculations	OMIM:614808
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia	OMIM:618987
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Inability to walk, Periventricular heterotopia, Oculomotor apraxia, Short stature, Truncal ataxia...	OMIM:618273
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Spasticity, Abnormal cerebellum morphology, Tremor, Hyperkinetic mo...	OMIM:300957
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Male infertility	OMIM:277180
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ...	ORPHA:352649
Foxg1 Syndrome	Spasticity, Myoclonus, Agenesis of corpus callosum, Hyperkinetic movements, Dystonia, Choreoathet...	ORPHA:561854
Developmental And Epileptic Encephalopathy 6B	Chorea, Myoclonus, Hyperkinetic movements, Ataxia, Dystonia, Choreoathetosis	OMIM:619317
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Cerebellar atrophy, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor...	OMIM:614298
Chiari Malformation Type Ii	Agenesis of corpus callosum, Opisthotonus, Ataxia, Gray matter heterotopia, Dysphagia, Feeding di...	OMIM:207950
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Inability to walk, Tremor, Cerebellar hypoplasia, Hypertonia, Ataxia	OMIM:619556
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Cerebellar atrophy, Oculomotor apraxia, Abnormal pyramidal sign, Te...	OMIM:616267
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Diarrhea, Vomiting, Failure to thrive, Gait ataxia, Cachexia, Weight loss, Feeding difficulties	OMIM:612075
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Myoclonus, Intention tremor, Dysmetria, Babinski sign, Hypertonia, Ataxia, Dy...	OMIM:618356
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Rigidity, Gait di...	OMIM:603472
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Cerebellar atrophy, Abnormal cerebellum morphology, Gait ataxia, Dysmetria, T...	OMIM:618056
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Spasticity, Generalized dystonia, Partial agenesis of the corpus callosum, Dystonia, Opisthotonus...	OMIM:619653
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor, Hypergonadotropic hypogonadism	OMIM:614307
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis	OMIM:233910
Continuous Spikes And Waves During Sleep	Hyperkinetic movements, Speech apraxia, Clumsiness, Dystonia	ORPHA:725
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ...	OMIM:616586
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Folate Malabsorption, Hereditary	Diarrhea, Failure to thrive, Malabsorption, Feeding difficulties in infancy, Ataxia, Athetosis	OMIM:229050
Peho-Like Syndrome	Myoclonus, Cerebellar atrophy	OMIM:617507
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:618495
Glut1 Deficiency Syndrome 2	Dystonia, Choreoathetosis, Tremor, Ataxia	OMIM:612126
Mitochondrial Complex I Deficiency, Nuclear Type 19	Myoclonus, Athetosis, Cerebellar atrophy, Rigidity	OMIM:618241
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bradykinesia, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Dystonia	OMIM:619911
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Pain insensitivity, Diarrhea, Abnormal autonomic nervous system physiology, Constipation	OMIM:615548
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Oligozoospermia, Male infertility	ORPHA:48
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Fasciculations	OMIM:619141
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Gait ataxia, Myoclonus, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressi...	ORPHA:254881
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells	OMIM:620282
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia	OMIM:608184
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:37748
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Fasciculations	OMIM:606595
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Frequent falls, Degeneration of ant...	OMIM:159950
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Spasticity, Involuntary movements, Failure to thrive, Difficulty walking, Abnormal...	ORPHA:442835
Galactosemia Iii	Hepatomegaly, Jaundice, Splenomegaly	OMIM:230350
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Shuffling gait, Spastic tetraplegia, Male hypogonadism, Resting tremor, Tremo...	OMIM:300055
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Hyperkinetic movements, Cerebellar dysplasia, Tremor, Upper limb spasticity	ORPHA:457240
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Proximal Myopathy With Extrapyramidal Signs	Optic atrophy, Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidit...	ORPHA:401768
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Fasciculations	OMIM:608030
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ...	ORPHA:261529
Spinocerebellar Ataxia, Autosomal Recessive 31	Tremor, Cerebellar hypoplasia, Ataxia, Dystonia, Choreoathetosis	OMIM:619422
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Homozygous 11P15-P14 Deletion Syndrome	Diarrhea, Feeding difficulties in infancy, Vomiting, Failure to thrive	OMIM:606528
Neuroferritinopathy	Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Chorea, Leg dystonia, Abnorma...	ORPHA:157846
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	OMIM:620010
Myoclonic Epilepsy Of Unverricht And Lundborg	Myoclonus, Ataxia	OMIM:254800
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Gait ataxia, Hyperkinetic movements...	OMIM:620089
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Joubert Syndrome 30	Gray matter heterotopia, Polymicrogyria, Agenesis of corpus callosum	OMIM:617622
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Oromandibular Dystonia	Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Hyperkinetic movements, L...	ORPHA:93958
Malonyl-Coa Decarboxylase Deficiency	Vomiting, Diarrhea, Pachygyria, Chronic constipation, Constipation, Short stature, Abdominal pain	OMIM:248360
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Spastic paraplegia, Cerebellar atrophy, Myoclonus, Babinski sign, Abnormal pyramidal sign, Ataxia...	OMIM:620538
Riboflavin Transporter Deficiency	Hypogonadism, Abnormal cranial nerve morphology, Myoclonus, Tremor, Cachexia, Abnormal autonomic ...	ORPHA:97229
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Lateral ventricle dilatation, Myoclonus, Pontocerebellar atrophy, Dystonia, Clumsines...	OMIM:617854
Phenylketonuria	Lower limb spasticity, Tremor, Ataxia	ORPHA:716
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Isaacs Syndrome	Fasciculations	ORPHA:84142
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Acroparesthesia,...	ORPHA:206443
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Cystathioninuria	Tremor	ORPHA:212
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc...	OMIM:615234
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Myoclonus, Dysmetria, Agenesis of corpus callosum, Head titubation, Ataxia, Truncal ataxia, Dystonia	OMIM:250620
Amyotrophic Lateral Sclerosis 5, Juvenile	Babinski sign, Spasticity, Abnormal pyramidal sign, Fasciculations	OMIM:602099
Cog7-Cdg	Diarrhea, Failure to thrive, Postnatal growth retardation, Small for gestational age, Feeding dif...	ORPHA:79333
Episodic Ataxia Type 7	Hyperkinetic movements, Episodic ataxia	ORPHA:209970
Alexander Disease Type Ii	Abnormal medulla oblongata morphology, Spastic paraparesis, Spasticity, Rigidity, Babinski sign, ...	ORPHA:363722
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Ataxia With Vitamin E Deficiency	Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,...	ORPHA:96
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Glycine Encephalopathy 1	Myoclonus, Agenesis of corpus callosum	OMIM:605899
Hemimegalencephaly	Optic atrophy, Polymicrogyria, Gray matter heterotopia, Myoclonus, Hemiparesis, Pachygyria, Abnor...	ORPHA:99802
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Broad-based gait, Resting tremor, Obesity, Tremor, Parkinsonism, Lower limb spast...	ORPHA:3077
Myoclonus, Intractable, Neonatal	Chorea, Athetosis, Myoclonus, Dandy-Walker malformation	OMIM:617235
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Steppage gait, Gait...	OMIM:118300
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Fasciculations	OMIM:613435
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dysplasia	OMIM:616531
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Gait disturbance, Hypertonia, Aplasia/Hypoplasia of the cerebellum	ORPHA:1192
Congenital Toxoplasmosis	Ascites, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice	ORPHA:858
Diarrhea 4, Malabsorptive, Congenital	Vomiting, Diarrhea, Failure to thrive	OMIM:610370
Spermatogenic Failure 14	Azoospermia, Male infertility, Round spermatid arrest	OMIM:615842
Aicardi-Goutieres Syndrome 6	Intrauterine growth retardation, Tremor, Rigidity, Loss of ambulation, Dystonia	OMIM:615010
Pelizaeus-Merzbacher Disease, Connatal Form	Difficulty walking, Inability to walk, Cerebellar hypoplasia, Dystonic gait, Lower limb spasticit...	ORPHA:280210
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks	OMIM:254770
Episodic Ataxia, Type 5	Ataxia, Truncal ataxia, Myoclonus, Episodic ataxia	OMIM:613855
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Difficulty walking, Impaired vibration sensation in the lower limbs, Head tremor, Gait ataxia, Sp...	ORPHA:95433
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Fasciculations	OMIM:137200
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Spasticity, Involuntary movements, Chorea, Myoclonus, Rigidity, Babinski sign, Clu...	OMIM:617282
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Chylomicron Retention Disease	Impaired vibratory sensation, Diarrhea, Vomiting, Failure to thrive, Malnutrition, Steatorrhea, G...	OMIM:246700
Spermatogenic Failure 28	Non-obstructive azoospermia, Male infertility	OMIM:618086
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Combined Oxidative Phosphorylation Deficiency 32	Spasticity, Cerebellar atrophy, Inability to walk, Tremor, Dystonia, Choreoathetosis	OMIM:617664
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Myopathy, Mitochondrial, And Ataxia	Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Tremor,...	OMIM:617675
Hemochromatosis, Type 2A	Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Hepatomegaly	OMIM:602390
46,Xy Sex Reversal 3	Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ...	OMIM:612965
Myopathy With Extrapyramidal Signs	Difficulty walking, Cerebellar dysplasia, Chorea, Tremor, Abnormality of extrapyramidal motor fun...	OMIM:615673
Autosomal Recessive Cutis Laxa Type 2A	Cerebellar vermis hypoplasia, Spasticity, Inability to walk, Cerebellar malformation, Dilated fou...	ORPHA:357058
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Bradyki...	OMIM:612953
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:172
Machado-Joseph Disease Type 1	Spasticity, Cerebellar atrophy, Dilated fourth ventricle, Abnormality of extrapyramidal motor fun...	ORPHA:276238
Machado-Joseph Disease Type 2	Spasticity, Cerebellar atrophy, Dilated fourth ventricle, Abnormality of extrapyramidal motor fun...	ORPHA:276241
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Pyruvate Dehydrogenase Deficiency	Spasticity, Cerebral palsy, Intrauterine growth retardation, Tremor, Lethargy, Gait disturbance, ...	ORPHA:765
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Tremor, Dysmetria, Limb hypertonia, Hypertonia, Ataxia, Dystonia, Athetosis, ...	OMIM:617710
Autosomal Recessive Spastic Paraplegia Type 75	Spastic paraplegia, Spasticity, Impaired vibratory sensation, Dysmetria, Babinski sign, Abnormal ...	ORPHA:459056
Autosomal Recessive Ataxia, Beauce Type	Spasticity, Arm dystonia, Cerebellar atrophy, Fasciculations, Dysmetria, Ankle clonus, Babinski s...	ORPHA:88644
Congenital Disorder Of Glycosylation, Type In	Spasticity, Myoclonus, Ataxia	OMIM:612015
Coproporphyria, Hereditary	Vomiting, Diarrhea, Respiratory paralysis, Constipation, Abdominal pain	OMIM:121300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Abnormality of neuronal migration, Babinski sign, Short stature, Facial palsy	OMIM:608840
Brain Small Vessel Disease 2	Polymicrogyria, Hemiplegia, Subcortical heterotopia, Growth delay, Spastic tetraplegia	OMIM:614483
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
46,Xy Sex Reversal 11	Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female...	OMIM:273250
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Developmental And Epileptic Encephalopathy 42	Athetosis, Hypertonia, Tremor, Ataxia	OMIM:617106
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Fasciculations, Tremor, Cerebellar hyp...	OMIM:620327
Desmosterolosis	Severe short stature, Lissencephaly, Spasticity, Abnormal cortical gyration, Failure to thrive, P...	ORPHA:35107
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Bone-marrow foam cells	OMIM:607616
Saccharopinuria	Gait ataxia, Tremor, Distal sensory impairment, Short stature, Spastic diplegia	ORPHA:3124
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Fasciculations, Incoordination, Gait ataxia, Babinski sign, Clumsiness, Abnormal pyramidal sign, ...	OMIM:616688
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Myoclonus, Hypertonia	OMIM:610090
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Optic atrophy, Gastroesophageal reflux, Failure to thrive, Cerebral palsy, Intrauterine growth re...	OMIM:619833
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon...	ORPHA:99027
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly	ORPHA:391
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
Perry Syndrome	Parkinsonism, Tremor, Abnormality of extrapyramidal motor function	ORPHA:178509
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi...	OMIM:607060
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Vomiting, Failure to thrive	OMIM:614265
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen...	OMIM:601859
Amyotrophic Lateral Sclerosis 1	Spasticity, Pseudobulbar paralysis, Fasciculations	OMIM:105400
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar cyst, Agenesis of corpus callosum, Cereb...	OMIM:613153
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate...	OMIM:616860
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:164180
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal sensory impairment	OMIM:607734
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
5-Oxoprolinase Deficiency	Abdominal pain, Vomiting, Diarrhea, Enterocolitis	OMIM:260005
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Childhood-Onset Spasticity With Hyperglycinemia	Spastic dysarthria, Myoclonus, Babinski sign, Hypertonia, Ataxia, Progressive spasticity, Spastic...	ORPHA:401866
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga...	OMIM:607483
Crigler-Najjar Syndrome Type 1	Tremor	ORPHA:79234
Aromatic L-Amino Acid Decarboxylase Deficiency	Diarrhea, Gastroesophageal reflux, Failure to thrive, Tremor, Babinski sign, Constipation, Limb h...	ORPHA:35708
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Vici Syndrome	Optic atrophy, Agenesis of corpus callosum, Feeding difficulties in infancy, Short stature, Gray ...	ORPHA:1493
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Cerebellar cyst	OMIM:615181
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Reduced social reciprocity	ORPHA:329249
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Spasticity, Myoclonus, Hemiplegia/hemiparesis, Abnormality of extrapyramidal motor function, Apla...	ORPHA:79279
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Developmental And Epileptic Encephalopathy 72	Hyperkinetic movements	OMIM:618374
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy...	ORPHA:277
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Truncal ataxia, Myoclonus, Morning myoclonic jerks, Episodic ataxia	OMIM:607682
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Leishmaniasis	Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Lymphadenopathy, ...	ORPHA:507
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Inability to walk, Decreased nerve conduction velocity...	OMIM:218000
Pouchitis	Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A...	ORPHA:217067
Mitochondrial Neurogastrointestinal Encephalomyopathy	Diarrhea, Decreased motor nerve conduction velocity, Gastroesophageal reflux, Vomiting, Paresthes...	ORPHA:298
Aceruloplasminemia	Blepharospasm, Involuntary movements, Chorea, Akinesia, Limb ataxia, Gait ataxia, Tremor, Rigidit...	ORPHA:48818
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Weight loss, Growth delay	ORPHA:30925
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Dystonia, Spasticity, Myoclonus, Ataxia	OMIM:620094
Thyrocerebrorenal Syndrome	Nonprogressive cerebellar ataxia, Myoclonus, Slurred speech	ORPHA:3327
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hypertension...	ORPHA:824
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait	ORPHA:209335
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypopl...	OMIM:619151
Developmental And Epileptic Encephalopathy 68	Spasticity, Myoclonus, Clonus, Exaggerated startle response	OMIM:618201
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T...	ORPHA:755
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen...	OMIM:603909
Maternal Uniparental Disomy Of Chromosome 4	Impaired vibratory sensation, Optic atrophy, Spastic gait, Diarrhea, Malnutrition, Postnatal grow...	ORPHA:96180
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Hypoplasia of the pons, Myoclonus, Appendicular spasticity, Agenesis of corpus callosum, Cerebell...	OMIM:617669
Inherited Creutzfeldt-Jakob Disease	Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia...	ORPHA:282166
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration, Failure to thrive	OMIM:236795
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Salt And Pepper Developmental Regression Syndrome	Myoclonus, Choreoathetosis	OMIM:609056
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice	OMIM:619868
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Spermatogenic Failure 13	Azoospermia, Male infertility	OMIM:615841
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Spasticity, Fasciculations, Tetraparesis, Ankle clonus, Babinski sign, Lower limb spasticity	OMIM:613954
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic...	ORPHA:848
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Myoclonic Epilepsy Of Infancy	Myoclonus, Poor motor coordination, Poor hand-eye coordination, Hemiplegia	ORPHA:86909
Alzheimer Disease 3	Myoclonus, Abnormality of extrapyramidal motor function, Dystonia, Babinski sign, Apraxia, Optic ...	OMIM:607822
Developmental And Epileptic Encephalopathy 23	Myoclonus, Hypoplasia of the pons	OMIM:615859
Frontotemporal Dementia With Motor Neuron Disease	Tetraparesis, Fasciculations, Abnormality of extrapyramidal motor function, Babinski sign, Parkin...	ORPHA:275872
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Spasticity, Diarrhea, Vomiting, Failure to thrive, Gait disturbance, Short stature, Poor coordina...	OMIM:250940
Ataxia-Telangiectasia	Spasticity, Premature graying of hair, Tremor, Gait disturbance, Delayed puberty, Ataxia, Short s...	ORPHA:100
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Spinocerebellar Ataxia 1	Spasticity, Fasciculations, Dilated fourth ventricle, Chorea, Limb ataxia, Olivopontocerebellar a...	OMIM:164400
Mohr-Tranebjaerg Syndrome	Optic atrophy, Shuffling gait, Generalized dystonia, Abnormality of somatosensory evoked potentia...	ORPHA:52368
Spontaneous Periodic Hypothermia	Diarrhea, Nausea and vomiting, Tremor, Gait disturbance, Ataxia	ORPHA:29822
Spermatogenic Failure, X-Linked, 4	Azoospermia, Male infertility	OMIM:301077
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Ataxia	OMIM:607876
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Type II lissencephaly, Optic atrophy, Gray matter heterotopia, Dysgyria	ORPHA:352682
Microtriplication 11Q24.1	Hyperkinetic movements, Speech apraxia, Retrocerebellar cyst	ORPHA:289522
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Hydrocephalus	OMIM:613155
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Splenomegaly, Hepatocellular carcinoma	OMIM:613490
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi...	ORPHA:240071
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia	OMIM:620514
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties, Optic nerv...	OMIM:613638
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Diarrhea, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor...	OMIM:105210
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor function...	OMIM:613280
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Tetraplegia, Hand tremor, Fasciculations	OMIM:604484
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos...	OMIM:616828
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Diarrhea, Paresthesia, Anorexia, Short stature	ORPHA:49827
Familial Peripheral Male-Limited Precocious Puberty	Oligozoospermia, Male infertility	ORPHA:3000
Solitary Rectal Ulcer Syndrome	Hematochezia, Tenesmus, Chronic constipation, Decreased body weight, Episodic abdominal pain, Abd...	ORPHA:209964
Lissencephaly 5	Spastic paraplegia, Optic atrophy, Type II lissencephaly, Gray matter heterotopia, Subcortical ba...	OMIM:615191
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo...	ORPHA:160148
Periventricular Nodular Heterotopia 7	Failure to thrive, Polymicrogyria, Periventricular nodular heterotopia, Ataxia, Gray matter heter...	OMIM:617201
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Attrv30M Amyloidosis	Diarrhea, Weight loss, Abnormal autonomic nervous system physiology, Constipation	ORPHA:85447
Crome Syndrome	Cerebellar dysplasia	OMIM:218900
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa...	OMIM:614034
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Mitochondrial Complex I Deficiency, Nuclear Type 31	Myoclonus, Dysmetria	OMIM:618251
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Cerebellar atrophy, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus, Ataxia, ...	OMIM:616271
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Myoclonus	OMIM:612899
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Vomiting, Diarrhea, Failure to thrive, Paraplegia, Reye syndrome-like episodes, Ataxia, Nausea, F...	ORPHA:927
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Polymicrogyria, Type II lissencephaly, Agenesis of corpus callosum, Abnormal pyram...	ORPHA:370959
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Hypertonia, Ataxia	OMIM:619092
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Sucrase-Isomaltase Deficiency, Congenital	Abdominal pain, Diarrhea, Malabsorption	OMIM:222900
Diarrhea 9	Diarrhea, Failure to thrive	OMIM:618168
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Tremor, Ataxia, Bradykinesia, Poor fine motor coordination	ORPHA:36387
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Tetraparesis, Gait ataxia, Limb dystonia, Myoclonus, Tremor,...	ORPHA:363400
Ceroid Lipofuscinosis, Neuronal, 1	Spasticity, Myoclonus, Ataxia	OMIM:256730
Autosomal Dominant Spastic Paraplegia Type 9A	Falls, Impaired vibration sensation in the lower limbs, Abnormal cerebellum morphology, Tremor, B...	ORPHA:447753
Diarrhea 7, Protein-Losing Enteropathy Type	Vomiting, Diarrhea, Abdominal colic, Failure to thrive	OMIM:615863
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Intrauterine growth retardation, Tremor, Short stature, Growth delay	OMIM:617744
Cerebral Palsy, Spastic Quadriplegic, 3	Spasticity, Abnormal pyramidal sign, Gray matter heterotopia, Dysphagia, Spastic tetraplegia, Spa...	OMIM:617008
3-Methylglutaconic Aciduria, Type Iv	Cerebellar dysplasia	OMIM:250951
Machado-Joseph Disease Type 3	Spasticity, Cerebellar atrophy, Dilated fourth ventricle, Abnormality of extrapyramidal motor fun...	ORPHA:276244
Congenital Muscular Dystrophy Without Intellectual Disability	Tip-toe gait, Difficulty walking, Gray matter heterotopia, Facial diplegia, Pachygyria, Frequent ...	ORPHA:370980
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Splenomegaly	OMIM:105200
Bile Acid Malabsorption, Primary, 1	Growth delay, Failure to thrive, Steatorrhea, Chronic diarrhea, Fat malabsorption	OMIM:613291
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
11Q22.2Q22.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Short attention span, Abnormal social behavior	ORPHA:444002
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem...	OMIM:619574
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Hereditary Hyperekplexia	Spasticity, Fasciculations, Myoclonus, Rigidity, Hypertonia, Ataxia	ORPHA:3197
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Thyrocerebroretinal Syndrome	Myoclonus, Slurred speech, Ataxia	OMIM:274240
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath...	ORPHA:100026
Juvenile Absence Epilepsy	Myoclonus	ORPHA:1941
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Tetraparesis, Chorea, Myoclonus, Cerebellar hypoplasia, Opisthotonus, Dystonia	OMIM:616672
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain	OMIM:191390
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Developmental And Epileptic Encephalopathy 54	Myoclonus	OMIM:617391
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Shuffling gait, Involuntary movements, Tremor, Rigidity, Dystonia, ...	OMIM:615530
Spastic Paraplegia 9A, Autosomal Dominant	Spastic paraplegia, Impaired vibratory sensation, Resting tremor, Abnormal upper motor neuron mor...	OMIM:601162
Jaberi-Elahi Syndrome	Broad-based gait, Inability to walk, Cerebellar vermis atrophy, Gait ataxia, Appendicular spastic...	OMIM:617988
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Myoclonus, Hypertonia, Spastic tetrap...	ORPHA:284417
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Optic Atrophy 11	Dysmetria, Cerebellar hypoplasia, Hyperkinetic movements, Gait apraxia, Ataxia, Athetosis	OMIM:617302
Ethylmalonic Encephalopathy	Diarrhea, Failure to thrive, Abnormality of extrapyramidal motor function, Abnormal pyramidal sig...	ORPHA:51188
Leukoencephalopathy With Ataxia	Limb ataxia, Gait ataxia, Action tremor	OMIM:615651
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Malabsorption, Nausea, Abdominal distention, Dyspepsia, Abdominal pain, Chronic diarrhea	ORPHA:103907
Waisman Syndrome	Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t...	OMIM:311510
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Agenesis of corpus callosum, Colpocephaly, Gray matter heterotopia, Lissencephaly,...	OMIM:615219
Cutaneous Photosensitivity And Colitis, Lethal	Colitis, Diarrhea	OMIM:219095
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Cholesteryl Ester Storage Disease	Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly	ORPHA:75234
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Sneddon Syndrome	Chorea, Tremor, Hemiparesis	ORPHA:820
Tularemia	Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat...	ORPHA:3392
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Myoclonus, Cerebellar atrophy	OMIM:619060
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Amyotrophy, Monomelic	Fasciculations	OMIM:602440
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Babinski sign, Apraxia, Myoclonus	OMIM:618193
Early Myoclonic Encephalopathy	Myoclonus	ORPHA:1935
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni...	ORPHA:457077
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Pontocerebellar Hypoplasia, Type 1D	Tongue fasciculations, Spasticity, Cerebellar atrophy, Fasciculations	OMIM:618065
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatitis, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Perry Syndrome	Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss, Br...	OMIM:168605
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Failure to thrive, Mucoid diarrhea, Crohn's disease, Growth ...	OMIM:615767
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Abnormal pyra...	ORPHA:204
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Abdominal distention	OMIM:616868
Secondary Short Bowel Syndrome	Diarrhea, Vomiting, Failure to thrive, Malnutrition, Malabsorption, Aganglionic megacolon, Small ...	ORPHA:95427
Ménétrier Disease	Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnutrition, Helicobac...	ORPHA:2494
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Babinski sign, Lower limb spasticity, Fasciculations	OMIM:615290
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Lateral ventricle dilatation, Cerebral palsy, Myoclonus, Limb dystonia, Opisthotonus,...	OMIM:619847
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Familial Infantile Myoclonic Epilepsy	Blepharospasm, Cerebellar atrophy, Limb myoclonus, Clumsiness, Ataxia	ORPHA:352582
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Encephalocele, Tremor, Agenesis of corpus callosum, Oculomotor apra...	ORPHA:220497
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Galloway-Mowat Syndrome 10	Myoclonus, Cerebellar atrophy	OMIM:619609
Myopathy, Myofibrillar, 1	Diarrhea, Facial palsy, Constipation	OMIM:601419
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Severe X-Linked Intellectual Disability, Gustavson Type	Spasticity, Lateral ventricle dilatation, Dilated fourth ventricle, Myoclonus, Cerebellar hypopla...	ORPHA:3078
Complete Androgen Insensitivity Syndrome	Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus...	ORPHA:99429
Aggressive Systemic Mastocytosis	Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C...	ORPHA:98850
Trichohepatoenteric Syndrome 2	Diarrhea, Failure to thrive, Bloody diarrhea, Intrauterine growth retardation, Colitis, Chronic d...	OMIM:614602
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Prolonged neonatal jaundice, Ly...	OMIM:257200
Radio-Tartaglia Syndrome	Gastroesophageal reflux, Obesity, Gait imbalance, Tremor, Agenesis of corpus callosum, Constipati...	OMIM:619312
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Growth delay, Malnutrition, Protracted diarrhea	OMIM:251850
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Hypoplasia of the pons, Myoclonus, Agenesis of corpus callosum, Dystonia, Vocal cord ...	ORPHA:500144
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Early satiety, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Hyperactive bowel...	OMIM:603041
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility	OMIM:617091
Hyperekplexia 4	Myoclonus, Hypertonia	OMIM:618011
Combined Oxidative Phosphorylation Deficiency 51	Myoclonus, Rigidity	OMIM:619057
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Pontocerebellar Hypoplasia, Type 7	Tongue fasciculations, Spasticity, Spastic paraplegia, Hypoplasia of the pons, Myoclonus, Cerebel...	OMIM:614969
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar vermis hypoplasia, Cerebellar atrophy, Lateral ventricle dilatation, Difficulty walkin...	ORPHA:572798
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly	ORPHA:93476
Roifman Syndrome	Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy, Eosinophilia	ORPHA:353298
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro...	OMIM:603554
16P13.11 Microdeletion Syndrome	Gastroesophageal reflux, Agenesis of corpus callosum, Abnormality of neuronal migration, Hyperton...	ORPHA:261236
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Difficulty walking, Speech apraxia, Chorea, Inability to walk, Tremor, Hyperk...	OMIM:615356
Walker-Warburg Syndrome	Optic atrophy, Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnormali...	ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Polymicrogyria, Type II lissencephaly, Pachygyria, Partial agenesis of t...	OMIM:614643
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Babinski sign, Dystonia, Myoclonus, Rigidity	OMIM:600795
Multifocal Motor Neuropathy	Fasciculations	ORPHA:641
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Fasciculations	OMIM:600882
Typhoid	Gastrointestinal hemorrhage, Diarrhea, Tremor, Constipation, Hypertonia, Ataxia, Abdominal pain	ORPHA:99745
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Spasticity, Myoclonus, Babinski sign, Ataxia, Truncal ataxia, Dystonia	OMIM:252011
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Chronic diarrhea	OMIM:614102
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Hand tremor, Gait ataxia, Rigidity, Primary amenorrhea, Parkinsonism, Parkinsonis...	OMIM:157640
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,...	ORPHA:90797
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Myoclonus, Abnormality of extrapyramidal motor function	OMIM:604218
Adult Intestinal Botulism	Diaphragmatic paralysis, Diarrhea, Cerebral palsy	ORPHA:178487
Huntington Disease	Involuntary movements, Chorea, Myoclonus, Rigidity, Dystonia, Babinski sign, Clumsiness, Clonus, ...	ORPHA:399
Central Diabetes Insipidus	Diarrhea, Failure to thrive, Nausea and vomiting, Weight loss, Anorexia	ORPHA:178029
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Tay-Sachs Disease	Cerebellar atrophy, Fasciculations, Incoordination, Inability to walk, Laryngeal dystonia, Myoclo...	ORPHA:845
Developmental And Epileptic Encephalopathy 49	Cerebellar vermis hypoplasia, Spasticity, Facial-lingual fasciculations, Myoclonus, Dysplastic co...	OMIM:617281
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
O'Sullivan-Mcleod Syndrome	Tremor, Fasciculations	ORPHA:99965
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Hyperkinetic movements, Hypertonia	OMIM:236270
Diarrhea 13	Vomiting, Secretory diarrhea, Failure to thrive	OMIM:620357
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Congenital-Onset Steinert Myotonic Dystrophy	Diarrhea, Gastroesophageal reflux, Speech apraxia, Obesity, Encopresis, Decreased body weight, Co...	ORPHA:589821
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea	OMIM:223000
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Diarrhea 6	Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease	OMIM:614616
Encephalopathy, Ethylmalonic	Failure to thrive, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia, Chronic d...	OMIM:602473
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Failure to thrive, Recurrent infection of the gastrointestinal tract, Limb hyper...	OMIM:613489
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Postural tremor, Gait ataxia, Myoclonus, Action tremor, Unsteady gait, Intent...	OMIM:254900
Cog4-Cdg	Failure to thrive in infancy, Recurrent infection of the gastrointestinal tract, Fatal liver fail...	ORPHA:263501
Nipah Virus Disease	Myoclonus, Tremor	ORPHA:99825
Developmental And Epileptic Encephalopathy 109	Gait ataxia, Spasticity, Myoclonus	OMIM:620145
Multiple System Atrophy 1, Susceptibility To	Tremor, Rigidity, Olivopontocerebellar atrophy, Babinski sign, Parkinsonism, Ataxia, Bradykinesia	OMIM:146500
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Hyperkinetic movements, Truncal ataxia, Chorea	ORPHA:369847
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Premature Ovarian Failure 7	Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis	OMIM:612964
Congenital Disorder Of Deglycosylation 2	Polymicrogyria, Hypothalamic hamartoma, Gray matter heterotopia, Partial agenesis of the corpus c...	OMIM:619775
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No...	OMIM:613470
Cerebrofacioarticular Syndrome	Agenesis of corpus callosum, Dysplastic corpus callosum, Gastrostomy tube feeding in infancy, Fee...	ORPHA:314679
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Lateral ventricle dilatation, Myoclonus, Babinski sign, Apraxia	OMIM:221770
Parkinsonian-Pyramidal Syndrome	Spasticity, Myoclonus, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal pyramidal sign, ...	ORPHA:171695
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Small for gestational age, Failure to thrive	OMIM:613217
Leber Congenital Amaurosis	Abnormality of neuronal migration, Abnormal optic disc morphology, Hemiplegia/hemiparesis	ORPHA:65
Combined Oxidative Phosphorylation Deficiency 18	Intrauterine growth retardation, Tremor, Dysmetria	OMIM:615578
Parkinson Disease 23, Autosomal Recessive Early-Onset	Spasticity, Resting tremor, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign	OMIM:616840
Harderoporphyria	Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia	OMIM:618892
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Reticular Dysgenesis	Diarrhea, Malabsorption, Weight loss, Failure to thrive	ORPHA:33355
Rhabdoid Tumor	Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia	ORPHA:69077
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Postnatal growth retardation, Hypogonadotropic hypogonadism, Abnormal pyramidal sign, A...	ORPHA:453533
3-Methylglutaconic Aciduria Type 7	Spasticity, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Opisthot...	ORPHA:445038
Alg8-Cdg	Optic atrophy, Diarrhea, Vomiting, Failure to thrive, Intrauterine growth retardation, Ataxia, Sm...	ORPHA:79325
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cervical myelopathy, Myelopathy, Tetraparesis, Tremor, Rigidity, Cerebellar edema, Torticollis, A...	OMIM:617186
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Pelvic mass, Vaginal hematocele, ...	ORPHA:65681
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti...	OMIM:266200
Familial Pancreatic Carcinoma	Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg...	ORPHA:1333
Amish Nemaline Myopathy	Tremor	ORPHA:98902
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Difficulty walking, Dysmetria, Tremor, Thick hair, Primary amenorrhe...	ORPHA:502423
Early-Onset Autosomal Dominant Alzheimer Disease	Memory impairment, Confusion, Dementia, Semantic dementia, Abnormal social behavior	ORPHA:1020
Dravet Syndrome	Incoordination, Cogwheel rigidity, Action tremor, Myoclonus, Rigidity, Progressive gait ataxia, P...	ORPHA:33069
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia, Lateral ventricle dilatation, Feeding difficulties	OMIM:614105
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Roifman Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy	OMIM:616651
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Xeroderma Pigmentosum, Complementation Group F	Decreased body weight, Short stature, Tremor, Ataxia	OMIM:278760
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy...	ORPHA:39041
Pontocerebellar Hypoplasia, Type 2E	Spasticity, Cerebellar atrophy, Myoclonus, Opisthotonus, Hypertonia, 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
Lennox-Gastaut Syndrome	Myoclonus	ORPHA:2382
6Q Terminal Deletion Syndrome	Failure to thrive, Polymicrogyria, Obesity, Gait ataxia, Periventricular heterotopia, Dysmetria, ...	ORPHA:75857
Cog8-Cdg	Myoclonus, Cerebellar atrophy, Ataxia	ORPHA:95428
Hemochromatosis, Type 1	Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomegaly, Ci...	OMIM:235200
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal ...	OMIM:168600
Dystonia-Aphonia Syndrome	Myoclonus, Oromandibular dystonia, Cerebellar atrophy, Generalized dystonia	ORPHA:412217
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Spasticity, Difficulty walking, Periventricular heterotopia, Agenesis of corpus ca...	OMIM:618476
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria	OMIM:617397
Congenital Disorder Of Glycosylation, Type Id	Optic atrophy, Diarrhea, Vomiting, Failure to thrive, Hypertonia, Spastic tetraparesis	OMIM:601110
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Prostate c...	ORPHA:158057
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Encephalocele, Tremor, Agenesis of corpus callosum, Oculomotor apra...	ORPHA:220493
Autosomal Recessive Spastic Paraplegia Type 77	Progressive spastic paraplegia, Myoclonus, Paroxysmal dystonia, Dystonia, Babinski sign, Scissor ...	ORPHA:466722
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Hsd10 Disease, Infantile Type	Poor coordination, Hyperkinetic movements, Dystonia, Spastic tetraparesis, Choreoathetosis, Spast...	ORPHA:391428
Oculopharyngodistal Myopathy 4	Postural tremor, Tremor	OMIM:619790
Chylomicron Retention Disease	Diarrhea, Vomiting, Failure to thrive, Abdominal distention, Steatorrhea, Fat malabsorption, Grow...	ORPHA:71
Brody Disease	Fasciculations	OMIM:601003
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Amyotrophic Lateral Sclerosis 8	Postural tremor, Abnormal pyramidal sign, Fasciculations	OMIM:608627
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance	ORPHA:83629
Young-Onset Parkinson Disease	Spasticity, Male sexual dysfunction, Female sexual dysfunction, Bradykinesia, Gait imbalance, Tre...	ORPHA:2828
Mitochondrial Complex I Deficiency, Nuclear Type 4	Spasticity, Myoclonus, Ataxia	OMIM:618225
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary...	OMIM:614841
Gm1-Gangliosidosis, Type Iii	Myoclonus, Dystonia, Slurred speech, Ataxia	OMIM:230650
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Hypogonadism, Hepatosplenomegaly, Anemia, Lymphadenopathy, Oligoz...	ORPHA:85450
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Hyperprolinemia Type 2	Diarrhea, Distal sensory impairment, Abdominal pain, Unsteady gait, Dysphagia, Dysesthesia, Feedi...	ORPHA:79101
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy, Hepatomegaly, Hypopl...	ORPHA:99812
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Lymphadenopathy, Thrombocytopenia, Neutrophili...	OMIM:619644
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Failure to thrive	OMIM:613501
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Myoclonus, Tremor, Loss of ambulation, Right hemiplegia, Ataxia	OMIM:607426
Mullerian Aplasia And Hyperandrogenism	Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Orofaciodigital Syndrome Type 6	Failure to thrive, Tremor, Abnormality of neuronal migration, Feeding difficulties in infancy, Ga...	ORPHA:2754
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lower limb spasticity, Bloody diarrhea, Feeding difficulties	OMIM:615119
Maculopapular Cutaneous Mastocytosis	Abdominal pain, Vomiting, Diarrhea, Nausea	ORPHA:79457
East Syndrome	Cerebellar atrophy, Difficulty walking, Inability to walk, Action tremor, Ataxia	ORPHA:199343
Rapadilino Syndrome	Short stature, Diarrhea, Feeding difficulties	OMIM:266280
Benign Samaritan Congenital Myopathy	Fasciculations	ORPHA:324581
Schindler Disease, Type I	Spasticity, Myoclonus	OMIM:609241
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dystonia, Parkinsonism, ...	OMIM:168601
Celiac Disease, Susceptibility To, 1	Diarrhea, Abdominal distention, Failure to thrive, Vomiting, Postnatal growth retardation, Recurr...	OMIM:212750
Hyaline Fibromatosis Syndrome	Diarrhea, Failure to thrive	OMIM:228600
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, ...	ORPHA:199351
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Opisthotonus, Hypertonia, Tremor	OMIM:250800
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration, Intrauterine growth retardation, Disproportionate short-limb s...	ORPHA:2772
Melas	Optic atrophy, Diarrhea, Vomiting, Failure to thrive, Intestinal pseudo-obstruction, Abnormal cen...	ORPHA:550
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly...	ORPHA:79456
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Cerebellar hypoplasia, Ataxia, Short stature, Dystonia	OMIM:616113
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Tetrasomy 18P	Abnormality of neuronal migration, Gait disturbance, Achalasia	ORPHA:3307
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in pre...	OMIM:613179
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia...	ORPHA:158061
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Myoclonus, Hypertonia	OMIM:617290
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Hyperkinetic movements, Truncal ataxia, Cerebellar atrophy, Ataxia	OMIM:300243
Hyperekplexia 2	Myoclonus, Hypertonia, Exaggerated startle response	OMIM:614619
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Ataxia, Spasticity, Intention tremor, Cerebral amyloid angiopathy	OMIM:117300
Inclusion Body Myopathy And Brain White Matter Abnormalities	Babinski sign, Fasciculations	OMIM:619733
Adenylosuccinase Deficiency	Spasticity, Cerebellar atrophy, Hemiplegia, Myoclonus, Gait ataxia, Opisthotonus	OMIM:103050
Alternating Hemiplegia Of Childhood	Diarrhea, Abdominal distention, Failure to thrive, Episodic hemiplegia, Tetraparesis, Oral-pharyn...	ORPHA:2131
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Sialidosis Type 1	Decreased nerve conduction velocity, Myoclonus, Tremor, Gait disturbance, Ataxia, Short stature, ...	ORPHA:812
Isolated Agammaglobulinemia	Short stature, Malabsorption, Diarrhea, Failure to thrive	ORPHA:229717
Carnitine Palmitoyltransferase Ii Deficiency	Hepatic failure, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, ...	ORPHA:157
Foodborne Botulism	Diarrhea, Xerostomia, Cerebral palsy, Nausea and vomiting, Paralysis, Constipation, Diaphragmatic...	ORPHA:228371
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Intrauterine growth retardation, Abnormality of neuronal migration, Hypertonia, Sh...	ORPHA:2518
Glucose-Galactose Malabsorption	Diarrhea, Vomiting, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, ...	ORPHA:35710
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogonadism, Alopecia of scalp, Tremor, Lethargy, Ataxia, Short stature	OMIM:201100
Neonatal Adrenoleukodystrophy	Short stature, Optic atrophy, Abnormality of neuronal migration	ORPHA:44
Clcn4-Related X-Linked Intellectual Disability Syndrome	Progressive cerebellar ataxia, Chorea, Myoclonus, Lower limb spasticity, Upper limb spasticity	ORPHA:485350
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Myoclonus, Limb dystonia, Babinski sign, Limb hypertonia, Limb ...	OMIM:608643
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,...	OMIM:606003
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per...	ORPHA:343
Glucose/Galactose Malabsorption	Failure to thrive, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chronic diarrhea	OMIM:606824
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia	ORPHA:83313
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Diarrhea, Failure to thrive, Nausea and vomiting, Weight loss, Severe short-limb dwar...	ORPHA:1842
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Vomiting, Diarrhea, Failure to thrive, Myoclonus, Ataxia	OMIM:560000
Immunodeficiency 10	Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega...	OMIM:612783
Sandifer Syndrome	Abnormal posturing, Torticollis	ORPHA:71272
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Vomiting, Diarrhea, Decreased liver function, Cachexia, Ataxia	ORPHA:42
Alg11-Cdg	Failure to thrive, Opisthotonus, Limb hypertonia, Hypertonia, Ataxia, Episodic vomiting, Gray mat...	ORPHA:280071
Leigh Syndrome	Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Olivopontocerebellar atrophy, Abno...	ORPHA:506
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	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
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Neurogenic bladder, Ataxia, Opt...	OMIM:618527
Kallmann Syndrome	Breast hypoplasia, Paraplegia, Decreased fertility, Tremor, Primary amenorrhea, Hypogonadotropic ...	ORPHA:478
Peho Syndrome	Myoclonus, Cerebellar atrophy	OMIM:260565
Congenital Short Bowel Syndrome	Decreased intestinal transit time, Vomiting, Failure to thrive, Abnormal peristalsis, Abdominal d...	OMIM:615237
Congenital Disorder Of Glycosylation, Type Ii	Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Decreased body weight, Short stature	OMIM:607906
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Ly...	ORPHA:2686
Adult-Onset Distal Myopathy Due To Vcp Mutation	Fasciculations, Difficulty walking, Decreased nerve conduction velocity, Facial diplegia, Tremor,...	ORPHA:329478
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Spasticity, Cerebellar atrophy, Resting tremor, Head tremor, Babinski sign, Ataxia	ORPHA:314404
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Cinca Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Abnormality of neutrophils, Ab...	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	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret...	OMIM:194380
Wolman Disease	Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells	ORPHA:75233
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Developmental And Epileptic Encephalopathy 31B	Involuntary movements, Myoclonus, Appendicular spasticity, Agenesis of corpus callosum, Opisthoto...	OMIM:620352
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne...	OMIM:226990
Combined Malonic And Methylmalonic Acidemia	Intermittent diarrhea, Vomiting, Failure to thrive, Nasogastric tube feeding	ORPHA:289504
Neuropathy, Hereditary Sensory And Autonomic, Type V	Pain insensitivity, Impaired vibratory sensation, Diarrhea, Impaired pain sensation, Hand tremor,...	OMIM:608654
Neuroendocrine Tumor Of The Rectum	Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Hypoactive bowel sounds, Protracted diarrhe...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Hypoactive bowel sounds, Protracted diarrhe...	ORPHA:100082
Eosinophilic Gastroenteritis	Hematochezia, Diarrhea, Vomiting, Malabsorption, Weight loss, Steatorrhea, Abdominal pain, Dysphagia	ORPHA:2070
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis...	OMIM:614837
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Immunodeficiency 19	Chronic diarrhea, Failure to thrive	OMIM:615617
Cntnap2-Related Developmental And Epileptic Encephalopathy	Cerebral palsy, Obesity, Abnormality of neuronal migration, Lower limb spasticity, Ataxia, Abnorm...	ORPHA:163681
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Cerebellar atrophy, Myoclonus, Intention tremor, Dysmetria, Cerebellar hypoplasia, Babinski sign,...	OMIM:301310
Joubert Syndrome	Cerebellar vermis hypoplasia, Encephalocele, Tremor, Oculomotor apraxia, Gait disturbance, Hydroc...	ORPHA:475
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Myoclonus, Hypoplasia of the pons	ORPHA:411986
Bilateral Perisylvian Polymicrogyria	Spastic tetraplegia, Spasticity, Gastroesophageal reflux, Bilateral perisylvian polymicrogyria, P...	ORPHA:98889
Hyperekplexia 3	Myoclonus, Hypertonia, Exaggerated startle response	OMIM:614618
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing	OMIM:614857
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Spastic tetraplegia, Choreoathetosis, Tremor	OMIM:612164
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Increase...	ORPHA:231222
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Ataxia-Telangiectasia	Abnormal hair morphology, Inability to walk, Myoclonus, Intention tremor, Tremor, Delayed puberty...	OMIM:208900
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:47612
Leukodystrophy, Hypomyelinating, 10	Hyperkinetic movements, Babinski sign, Spasticity	OMIM:616420
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Diarrhea, Xerostomia, Vomiting, Paresthesia, Malabsorption, Cachexia, Anorexia, Abd...	OMIM:175500
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Botulism	Diarrhea, Xerostomia, Cerebral palsy, Nausea and vomiting, Constipation, Diaphragmatic paralysis,...	ORPHA:1267
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormality of the uterus, Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly, Cryptorchidi...	ORPHA:1655
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc...	OMIM:618048
Edinburgh Malformation Syndrome	Abnormality of neuronal migration, Failure to thrive, Hypertonia	ORPHA:1895
Hyperekplexia 1	Frequent falls, Myoclonus, Hypertonia, Exaggerated startle response	OMIM:149400
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, 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	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Neuroblastoma, Susceptibility To, 1	Diarrhea, Failure to thrive, Myoclonus, Weight loss, Horner syndrome, Ataxia, Abdominal pain	OMIM:256700
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemi...	OMIM:304790
Congenital Disorder Of Glycosylation, Type Ih	Vomiting, Diarrhea, Failure to thrive, Decreased liver function, Intrauterine growth retardation,...	OMIM:608104
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly	OMIM:235555
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Enterokinase Deficiency	Diarrhea, Failure to thrive	OMIM:226200
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Alexander Disease	Spasticity, Failure to thrive, Chorea, Tremor, Agenesis of corpus callosum, Abnormal pyramidal si...	ORPHA:58
Mitochondrial Complex I Deficiency, Nuclear Type 18	Myoclonus, Hypertonia	OMIM:618240
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Diarrhea, Vomiting, Absent brainstem auditory responses, Head titubation, Growth delay, Spastic t...	ORPHA:3240
Epilepsy, Progressive Myoclonic, 10	Spasticity, Myoclonus, Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia	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	Spasticity, Lateral ventricle dilatation, Inability to walk, Obesity, Intrauterine growth retarda...	OMIM:619229
9Q21.13 Microdeletion Syndrome	Difficulty walking, Postnatal growth retardation, Gastrointestinal dysmotility, Gray matter heter...	ORPHA:531151
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Vomiting, Diarrhea, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migratio...	OMIM:608836
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor	OMIM:613239
Porphyria Due To Ala Dehydratase Deficiency	Diarrhea, Difficulty walking, Nausea, Constipation, Episodic vomiting, Abdominal distention, Abdo...	ORPHA:100924
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Castleman Disease	Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy...	ORPHA:160
Developmental And Epileptic Encephalopathy 89	Spasticity, Cerebellar atrophy, Tetraparesis, Hyperkinetic movements, Hypertonia, Dystonia	OMIM:619124
Wolfram Syndrome 1	Optic atrophy, Tremor, Neurogenic bladder, Ataxia, Testicular atrophy, Growth delay	OMIM:222300
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Hyperkinetic movements, Dystonia, Spasticity, Athetosis	OMIM:612073
Posttransplant Acute Limbic Encephalitis	Dystonia, Myoclonus, Ataxia	ORPHA:163921
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618929
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Amenorrhea	OMIM:110100
Neuromuscular Oculoauditory Syndrome	Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Periventri...	OMIM:618733
Congenital Enterocyte Heparan Sulfate Deficiency	Diarrhea, Hematochezia, Weight loss, Abdominal distention	ORPHA:103910
Dpm1-Cdg	Optic atrophy, Spasticity, Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy, Ataxia	ORPHA:79322
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Autoinflammation With Infantile Enterocolitis	Secretory diarrhea, Failure to thrive, Feeding difficulties in infancy, Enterocolitis, Episodic v...	OMIM:616050
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation	OMIM:613027
Porphyria, Acute Intermittent	Diarrhea, Vomiting, Paresthesia, Respiratory paralysis, Paralysis, Paralytic ileus, Constipation,...	OMIM:176000
Diarrhea 11, Malabsorptive, Congenital	Diarrhea	OMIM:618662
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Anemia, Generalized lymphaden...	ORPHA:829
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233710
Trichothiodystrophy 5, Nonphotosensitive	Broad-based gait, Intrauterine growth retardation, Gait ataxia, Short stature, Chronic diarrhea, ...	OMIM:300953
Unilateral Polymicrogyria	Involuntary movements, Abnormal posturing, Pseudobulbar paralysis, Myoclonus, Hemiparesis, Spasti...	ORPHA:268943
Inflammatory Skin And Bowel Disease, Neonatal, 2	Vomiting, Secretory diarrhea, Failure to thrive	OMIM:616069
Lymphatic Filariasis	Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Orchitis, Abnormality of the lymph...	ORPHA:2035
Behavioral Variant Of Frontotemporal Dementia	Upper motor neuron dysfunction, Abnormality of extrapyramidal motor function, Fasciculations	ORPHA:275864
Early-Onset Lafora Body Disease	Spastic tetraparesis, Myoclonus, Ataxia	ORPHA:324290
Wild Type Attr Amyloidosis	Impaired vibratory sensation, Autonomic bladder dysfunction, Intermittent diarrhea, Orthostatic h...	ORPHA:330001
Bohring-Opitz Syndrome	Gastroesophageal reflux, Failure to thrive, Intrauterine growth retardation, Mesomelic/rhizomelic...	OMIM:605039
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Mevalonic Aciduria	Diarrhea, Vomiting, Failure to thrive, Failure to thrive in infancy, Ataxia, Short stature, Optic...	OMIM:610377
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Fabry Disease	Diarrhea, Vomiting, Tenesmus, Fasciculations, Paresthesia, Nausea, Delayed puberty, Abnormal auto...	OMIM:301500
Mitochondrial Dna Depletion Syndrome 19	Spasticity, Myoclonus, Tetraparesis	OMIM:618972
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Abnormal natural k...	ORPHA:79124
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia	ORPHA:1578
Autoinflammatory-Pancytopenia Syndrome	Chronic diarrhea, Growth delay, Failure to thrive, Intestinal inflammation	OMIM:619858
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Spasticity, Polymicrogyria, Intrauterine growth retardation, Simplified gyr...	ORPHA:468631
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatic failure, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, ...	ORPHA:228308
Mpi-Cdg	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Failure to thrive, Decreased liver function	ORPHA:79319
Retinal Dystrophy And Microvillus Inclusion Disease	Optic disc pallor, Chronic diarrhea	OMIM:619446
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Abdominal distention	OMIM:619445
Cockayne Syndrome Type 1	Optic atrophy, Diarrhea, Failure to thrive, Difficulty walking, Postnatal growth retardation, Abn...	ORPHA:90321
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome...	OMIM:607765
Primary Ciliary Dyskinesia	Abnormal sperm motility, Female infertility, Male infertility	ORPHA:244
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Clumsiness, Frequent falls, Fasciculations	ORPHA:521411
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Ciliary Dyskinesia, Primary, 18	Immotile sperm, Male infertility	OMIM:614874
Budd-Chiari Syndrome	Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233690
Immunodeficiency 115 With Autoinflammation	Postnatal growth retardation, Intermittent diarrhea	OMIM:620632
Developmental And Epileptic Encephalopathy 101	Opisthotonus, Myoclonus	OMIM:619814
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Anemia, Lymphadenop...	OMIM:603553
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio...	OMIM:606367
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Myoclonus, Rigidity	OMIM:300673
Intellectual Developmental Disorder, Autosomal Dominant 51	Failure to thrive, Chronic constipation, Chronic diarrhea, Feeding difficulties, Poor suck	OMIM:617788
Snakebite Envenomation	Vomiting, Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Paral...	ORPHA:449285
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia, Spasticity	OMIM:619694
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, Prostatitis, B lymphocytopenia, Neutropenia, Enteroviral hepatitis, Anemia...	OMIM:300755
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, ...	ORPHA:540
Cutaneous Mastocytoma	Abdominal pain, Vomiting, Diarrhea, Nausea	ORPHA:79455
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly	OMIM:617591
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Diarrhea, Feeding difficulties in infancy, Vomiting, Failure to thrive	OMIM:264350
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Myoclonus, Hypertonia	ORPHA:289266
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
D-Glyceric Aciduria	Myoclonus, Spasticity, Chorea	ORPHA:941
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Tongue tremor, Somatic sensory dysfunction, Tip-toe gait, Fascicula...	ORPHA:466768
Stiff-Person Syndrome	Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Frequent falls	OMIM:184850
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,...	ORPHA:549
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomega...	OMIM:267700
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Gray matter heterotopia	OMIM:300049
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Nausea, Diarrhea, Dysphagia, Poor appetite	ORPHA:352447
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Cronkhite-Canada Syndrome	Diarrhea, Malabsorption, Cachexia, Anorexia, Abdominal pain	ORPHA:2930
Enteric Anendocrinosis	Vomiting, Diarrhea, Malabsorption	ORPHA:83620
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ...	OMIM:613812
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Distal sensory i...	ORPHA:99956
Immunodeficiency 46	Chronic diarrhea, Failure to thrive	OMIM:616740
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Failure to thrive, Intrauterine growth retardation, Intention tremor, Tremor, Neonatal death, Ata...	OMIM:614052
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Spasticity, Fine hair, Premature graying of hair, Postnatal growth retardation, Intrauterine grow...	OMIM:612199
Progressive Supranuclear Palsy	Blepharospasm, Falls, Tremor, Rigidity, Dystonia, Unsteady gait, Bradykinesia	ORPHA:683
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia, Colpocephaly, Dysphagia, Feeding difficulties, Optic nerve hypoplasia	ORPHA:261250
Neuroendocrine Tumor Of The Colon	Melena, Lack of bowel sounds, Hypoactive bowel sounds, Protracted diarrhea, Bowel urgency, Weight...	ORPHA:100080
Glutaric Aciduria Iii	Diarrhea, Vomiting, Failure to thrive	OMIM:231690
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Diarrhea, Gastroesophageal reflux, Vomiting, Incoordination, Feeding difficulties in infancy, Con...	OMIM:223900
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Generalized lymphadenopathy, Decreased p...	OMIM:614700
Neurodevelopmental Disorder With Spasticity And Poor Growth	Spasticity, Generalized dystonia, Myoclonus, Cerebellar hypoplasia, Opisthotonus, Babinski sign, ...	OMIM:618076
Erythermalgia, Primary	Diarrhea, Xerostomia, Abnormal autonomic nervous system physiology, Constipation	OMIM:133020
Combined Oxidative Phosphorylation Deficiency 15	Optic atrophy, Incoordination, Obesity, Tremor, Abnormal pyramidal sign, Ataxia, Short stature, O...	OMIM:614947
3C Syndrome	Optic atrophy, Gastroesophageal reflux, Postnatal growth retardation, Abnormality of neuronal mig...	ORPHA:7
Cerebrotendinous Xanthomatosis	Spasticity, Diarrhea, Pseudobulbar paralysis, Difficulty walking, Ankle clonus, Babinski sign, Ab...	OMIM:213700
Myopathy, Myofibrillar, 2	Fasciculations	OMIM:608810
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619665
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Chorea, Limb dystonia, Communicating hydrocephalus, Tremor, Rigidity, At...	ORPHA:25
Orofaciodigital Syndrome Type 3	Cerebellar vermis hypoplasia, Spasticity, Myoclonus, Oculomotor apraxia, Dandy-Walker malformation	ORPHA:2752
Late Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Cerebellar atrophy, Myoclonus, Ataxia, Cortical myoclonus	ORPHA:168491
Immunodeficiency 15B	Chronic diarrhea, Failure to thrive	OMIM:615592
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Growth delay, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Freque...	OMIM:612716
Triokinase And Fmn Cyclase Deficiency Syndrome	Failure to thrive in infancy, Broad-based gait, Chronic diarrhea	OMIM:618805
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:294
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Diarrhea, Failure to thrive, Gastritis	OMIM:618108
Necrotizing Enterocolitis	Diarrhea, Vomiting, Hypoactive bowel sounds, Bloody diarrhea, Peritonitis, Abdominal rigidity, Ab...	ORPHA:391673
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Unsteady gait, Chronic diarrhea, Lateral ventricle dilatation, Ataxia	ORPHA:457279
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Galloway-Mowat Syndrome	Pachygyria, Intrauterine growth retardation, Hemiplegia/hemiparesis, Abnormality of neuronal migr...	ORPHA:2065
Congenital Tufting Enteropathy	Vomiting, Secretory diarrhea, Failure to thrive, Optic disc coloboma, Malabsorption, Weight loss,...	ORPHA:92050
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites	ORPHA:36412
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Diarrhea, Growth delay	OMIM:614069
Acalvaria	Abnormality of neuronal migration	ORPHA:945
Galactosemia I	Vomiting, Diarrhea, Failure to thrive, Decreased liver function	OMIM:230400
Neurogenic Arthrogryposis Multiplex Congenita	Fasciculations	ORPHA:1143
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra...	OMIM:214500
Inflammatory Bowel Disease (Crohn Disease) 30	Vomiting, Esophagitis, Pancolitis, Gastritis, Abdominal pain, Chronic diarrhea, Bloody diarrhea	OMIM:619079
Ciliary Dyskinesia, Primary, 14	Immotile sperm, Male infertility, Reduced sperm motility	OMIM:613807
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Lymphadenitis, Cholestasis, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy...	OMIM:615895
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Inflammation of the large intestine, Abnormal cortical gyration, Failure to thrive...	OMIM:614576
Satoyoshi Syndrome	Short stature, Diarrhea, Malabsorption	OMIM:600705
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior	ORPHA:101039
Thrombotic Thrombocytopenic Purpura	Abdominal pain, Diarrhea	ORPHA:54057
Gabriele-De Vries Syndrome	Tip-toe gait, Lateral ventricle dilatation, Intrauterine growth retardation, Tremor, Dystonia, Wa...	OMIM:617557
Adiposis Dolorosa	Diarrhea, Xerostomia, Obesity, Paresthesia, Constipation	ORPHA:36397
Aprosencephaly And Cerebellar Dysgenesis	Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon	OMIM:601374
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Azoospermia, Hepatosplenomegaly, Splenomegaly, C...	OMIM:602782
Japanese Encephalitis	Diarrhea, Pill-rolling tremor, Decreased motor nerve conduction velocity, Vomiting, Cogwheel rigi...	ORPHA:79139
Immunodeficiency 114, Folate-Responsive	Postnatal growth retardation, Chronic diarrhea	OMIM:620603
Inhalational Botulism	Diarrhea, Xerostomia, Nausea and vomiting, Paralysis, Constipation	ORPHA:254504
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Weight loss, Anorexia, Abdominal pain, Chronic diarrhea	ORPHA:65682
Whipple Disease	Gastrointestinal hemorrhage, Diarrhea, Anorexia, Malabsorption, Myoclonus, Cachexia, Abnormal pyr...	ORPHA:3452
Congenital Myopathy 20	Chronic diarrhea, Frequent falls, Failure to thrive	OMIM:620310
46,Xx Sex Reversal 2	Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo...	OMIM:278850
Carnitine Deficiency, Systemic Primary	Vomiting, Diarrhea, Failure to thrive	OMIM:212140
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Increased B cell count, Absent peripheral lymph nodes in presence of infe...	ORPHA:98813
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Galloway-Mowat Syndrome 1	Optic atrophy, Spasticity, Spastic tetraplegia, Pachygyria, Intrauterine growth retardation, Abno...	OMIM:251300
Thanatophoric Dysplasia Type 2	Short stature, Abnormality of neuronal migration	ORPHA:93274
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Diarrhea, Vomiting, Chorea, Gait ataxia, Myoclonus, Episodic vomiting, Ataxia, Spastic tetraplegia	OMIM:618321
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Hyperkinetic movements	OMIM:620469
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Diarrhea, Vomiting, Failure to thrive, Feeding difficulties	OMIM:177735
Aicardi Syndrome	Optic atrophy, Lateral ventricle dilatation, Optic disc coloboma, Polymicrogyria, Postnatal growt...	OMIM:304050
Serotonin Syndrome	Hepatic failure, Diarrhea, Abnormality of the autonomic nervous system, Myoclonus, Tremor, Rigidi...	ORPHA:43116
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice	OMIM:618641
Amoebiasis Due To Entamoeba Histolytica	Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Gastrointestinal dysmotilit...	ORPHA:67
Poems Syndrome	Visceromegaly, Polycythemia, Hypogonadism, Ascites, Splenomegaly, Lymphadenopathy, Thrombocytosis...	ORPHA:2905
Neuroendocrine Tumor Of Stomach	Hepatic failure, Lack of bowel sounds, Melena, Protracted diarrhea, Nausea and vomiting, Episodic...	ORPHA:100075
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:230800
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Satoyoshi Syndrome	Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u...	ORPHA:3130
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic nonin...	ORPHA:97289
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Pain insensitivity, Broad-based gait, Diarrhea, Abdominal distention, Failure to thrive, Painless...	OMIM:256810
X-Linked Intellectual Disability Due To Gria3 Mutations	Cerebellar vermis hypoplasia, Spasticity, Myoclonus, Babinski sign, Retrocerebellar cyst	ORPHA:364028
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Spasticity, Cerebellar atrophy, Cataplexy, Fasciculations, Tetraplegia, Ataxia, Dystonia, Progres...	ORPHA:496641
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Optic atrophy, Spasticity, Akinesia, Tremor, Rigidity, Abnormality of extrapyramid...	OMIM:234200
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Chronic diarrhea, Gait ataxia	OMIM:616355
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Vascular Hyalinosis	Hematochezia, Diarrhea, Malabsorption	OMIM:277175
Aromatase Deficiency	Female infertility, Hypergonadotropic hypogonadism, Male infertility, Primary amenorrhea	ORPHA:91
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Poor coordination, Myoclonic spasms	ORPHA:478029
Methionine Malabsorption Syndrome	Diarrhea	OMIM:250900
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
Vici Syndrome	Cerebellar vermis hypoplasia, Abnormal posturing, Agenesis of corpus callosum	OMIM:242840
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia	OMIM:260920
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Mixed Connective Tissue Disease	Leukopenia, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadeno...	ORPHA:809
Joubert Syndrome With Hepatic Defect	Cerebellar vermis hypoplasia, Occipital encephalocele, Tremor, Oculomotor apraxia, Gait disturban...	ORPHA:1454
Congenital Bile Acid Synthesis Defect Type 4	Hypogonadism, Tremor, Ataxia	ORPHA:79095
Pediatric-Onset Graves Disease	Diarrhea, Failure to thrive, Intrauterine growth retardation, Nausea and vomiting, Tremor, Hyperk...	ORPHA:525731
Thanatophoric Dysplasia	Gray matter heterotopia, Intrauterine growth retardation, Disproportionate short-limb short stature	ORPHA:2655
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short stature, Malabsorption, Diarrhea, Failure to thrive	OMIM:242860
Beta-Ketothiolase Deficiency	Spasticity, Diarrhea, Vomiting, Anorexia, Weight loss, Ataxia, Extrapyramidal dyskinesia	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	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Intellectual Developmental Disorder, Autosomal Dominant 45	Chorea, Myoclonus, Cerebral palsy	OMIM:617600
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Somatic sensory dysfunction, Resting tremor, Extrapyramidal muscular rigidity...	ORPHA:67036
Li-Ghorbani-Weisz-Hubshman Syndrome	Feeding difficulties in infancy, Periventricular heterotopia	OMIM:618974
Congenital Disorder Of Glycosylation, Type Ib	Hepatic failure, Vomiting, Diarrhea, Failure to thrive, Steatorrhea	OMIM:602579
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Small for gestational age, Failure to thrive, Pachygyria, Frontal polymicrogyria, Hypertonia, Sho...	OMIM:620024
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Anorexia, Diarrhea, Failure to thrive secondary to recurrent infections, Protracted diarrhea	ORPHA:169160
Acute Promyelocytic Leukemia	Leukopenia, Pancytopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Coffin-Lowry Syndrome	Optic atrophy, Abnormality of neuronal migration, Feeding difficulties in infancy, Gait disturban...	ORPHA:192
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Vomiting, Diarrhea, Large for gestational age, Tremor, Increased body weight	ORPHA:263455
Hyperlysinemia	Poor motor coordination, Tip-toe gait, Failure to thrive, Dysmetria, Tremor, Neck hypertonia, Opi...	ORPHA:2203
Methanol Poisoning	Abdominal pain, Vomiting, Diarrhea	ORPHA:31825
Immunodeficiency 11B With Atopic Dermatitis	Chronic diarrhea, Ulcerative colitis, Colonic eosinophilia	OMIM:617638
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia	OMIM:617099
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria...	ORPHA:90793
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90033
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Diarrhea, Vomiting, Malabsorption, Intestinal obstruction, Abdominal pain, Growth delay	OMIM:226300
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Hyperkinetic movements, Lower limb spasticity, Vocal cord paralysis, Ataxia, ...	OMIM:617799
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa...	OMIM:619418
Autosomal Agammaglobulinemia	Malabsorption, Diarrhea, Failure to thrive	ORPHA:33110
Complement Component 4B Deficiency	Chronic diarrhea	OMIM:614379
Familial Glucocorticoid Deficiency	Diarrhea, Vomiting, Failure to thrive, Episodic abdominal pain, Weight loss, Constipation, Tetrap...	ORPHA:361
B4Galt1-Cdg	Diarrhea, Small for gestational age	ORPHA:79332
H Syndrome	Hypogonadism, Decreased testicular size, Azoospermia, Microcytic anemia, Hepatosplenomegaly, Lymp...	ORPHA:168569
Familial Hypoaldosteronism	Diarrhea, Failure to thrive, Nausea and vomiting, Orthostatic hypotension, Growth delay, Feeding ...	ORPHA:427
Immunodeficiency By Defective Expression Of Mhc Class Ii	Diarrhea, Failure to thrive, Protracted diarrhea, Recurrent infection of the gastrointestinal tra...	ORPHA:572
Sandhoff Disease	Ataxia, Spasticity, Fasciculations, Impaired temperature sensation, Episodic abdominal pain, Orth...	OMIM:268800
Severe Combined Immunodeficiency, X-Linked	Chronic diarrhea, Failure to thrive	OMIM:300400
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Common Variable Immunodeficiency	Lymphopenia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia...	ORPHA:1572
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia	OMIM:614299
Postpoliomyelitis Syndrome	Fasciculations	ORPHA:2942
Intellectual Developmental Disorder, Autosomal Dominant 57	Diarrhea, Tip-toe gait, Failure to thrive, Constipation, Short stature, Intermittent diarrhea, Fe...	OMIM:618050
Multiple Mitochondrial Dysfunctions Syndrome 1	Facial paralysis, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Spastic ...	OMIM:605711
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nausea, Melena, Abdominal pain, Dysphagia, Poor ...	ORPHA:319218
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Right ventricular hypertrophy, Splenomegaly	OMIM:616028
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, ...	OMIM:306400
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe...	OMIM:607626
Opitz-Kaveggia Syndrome	Spasticity, Constipation, Short stature, Partial agenesis of the corpus callosum, Gray matter het...	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
Immunodeficiency 85 And Autoimmunity	Vomiting, Failure to thrive in infancy, Tube feeding, Chronic diarrhea, Growth delay	OMIM:619510
Mitochondrial Dna Depletion Syndrome 11	Nausea, Facial palsy, Chronic diarrhea	OMIM:615084
Combined Oxidative Phosphorylation Deficiency 58	Ataxia, Cerebellar atrophy, Myoclonus, Gait ataxia, Appendicular spasticity, Exaggerated startle ...	OMIM:620451
Niemann-Pick Disease Type C	Cataplexy, Cerebellar vermis atrophy, Speech apraxia, Chorea, Myoclonus, Limb dystonia, Tremor, A...	ORPHA:646
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea	OMIM:612692
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte...	ORPHA:100086
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Gastroesophageal reflux, Failure to thrive, Chronic diarrhea, Chronic constipation, Feeding diffi...	ORPHA:500055
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Hypertonia, Cerebral palsy, Fasciculations	ORPHA:682
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocep...	OMIM:613150
Metachromatic Leukodystrophy	Tip-toe gait, Incoordination, Decreased nerve conduction velocity, Tremor, Dystonia, Gait disturb...	ORPHA:512
Man1B1-Cdg	Broad-based gait, Periventricular heterotopia, Resting tremor, Truncal obesity	ORPHA:397941
Congenital Disorder Of Glycosylation, Type Ia	Diarrhea, Vomiting, Failure to thrive, Tremor, Dysmetria, Feeding difficulties in infancy, Ataxia...	OMIM:212065
Brain-Lung-Thyroid Syndrome	Involuntary movements, Incoordination, Chorea, Myoclonus, Intention tremor, Agenesis of corpus ca...	ORPHA:209905
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Chorea, Myoclonus, Action tremor, Hyperkinetic movements, Oculomotor apraxia,...	ORPHA:404454
Pyruvate Carboxylase Deficiency	Tip-toe gait, Failure to thrive, Tremor, Agenesis of corpus callosum, Abnormal pyramidal sign, At...	ORPHA:3008
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Impaired pain sensation, Intestinal pseudo-obstruction, Inability to walk, Gastroparesis, Agenesi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Impaired pain sensation, Intestinal pseudo-obstruction, Inability to walk, Gastroparesis, Agenesi...	ORPHA:352665
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal cerebellar cortex morphology, Gait ataxia, Myoclonus	ORPHA:70595
Carcinoid Syndrome	Hepatic necrosis, Chronic noninfectious lymphadenopathy	ORPHA:100093
Perrault Syndrome 4	Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus	OMIM:615300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,...	OMIM:600802
Acute Generalized Exanthematous Pustulosis	Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia	ORPHA:293173
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Diarrhea, Vomiting, Failure to thrive, Acute hepatic failure, Intrauterine growth retardation, Pr...	ORPHA:71212
Gray Platelet Syndrome	Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia	OMIM:139090
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina	ORPHA:3109
Hereditary Folate Malabsorption	Gastroesophageal reflux, Diarrhea, Failure to thrive, Nausea and vomiting, Anorexia	ORPHA:90045
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp...	ORPHA:168558
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Myoclonus	OMIM:616158
Pyridoxal Phosphate-Responsive Seizures	Myoclonus, Hypertonia	ORPHA:79096
Aa Amyloidosis	Vomiting, Malnutrition, Malabsorption, Nausea, Abdominal pain, Chronic diarrhea	ORPHA:85445
Mucopolysaccharidosis, Type Ii	Severe short stature, Diarrhea, Intestinal pseudo-obstruction, Papilledema, Short stature, Mild s...	OMIM:309900
Sandhoff Disease, Infantile Form	Spasticity, Myoclonus, Exaggerated startle response	ORPHA:309155
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, Anemia, Lymph...	ORPHA:50918
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology	ORPHA:247768
Blue Diaper Syndrome	Increased body weight, Diarrhea	ORPHA:94086
X-Linked Agammaglobulinemia	Failure to thrive, Malabsorption, Weight loss, Short stature, Chronic diarrhea	ORPHA:47
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Vomiting, Diarrhea, Postnatal growth retardation, Increased body weight, Short stature, Nausea	ORPHA:79240
3-Hydroxy-3-Methylglutaric Aciduria	Spasticity, Diarrhea, Anorexia, Myoclonus, Spastic hemiparesis, Weight loss, Reye syndrome-like e...	ORPHA:20
Tick-Borne Encephalitis	Tongue fasciculations, Abnormal medulla oblongata morphology, Incoordination, Speech apraxia, Tre...	ORPHA:297
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp...	ORPHA:289548
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Vomiting, Diarrhea, Failure to thrive, Feeding difficulties	OMIM:251000
Hereditary Fructose Intolerance	Diarrhea, Vomiting, Nausea, Chronic hepatic failure, Constipation, Abdominal distention, Abdomina...	ORPHA:469
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Specific Granule Deficiency 2	Intractable diarrhea, Failure to thrive	OMIM:617475
Neuraminidase Deficiency	Myoclonus, Dysmetria, Slurred speech	OMIM:256550
Proprotein Convertase 1/3 Deficiency	Obesity, Diarrhea, 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, Vomiting, Failure to thrive, Intrauterine growth retardation, Abnormalit...	ORPHA:464311
Ciliary Dyskinesia, Primary, 19	Male infertility	OMIM:614935
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina	OMIM:146255
Sialuria	Hyperkinetic movements	ORPHA:3166
Orofaciodigital Syndrome Xvi	Inability to walk, Oculomotor apraxia, Gray matter heterotopia, Ataxia	OMIM:617563
D-Glyceric Aciduria	Spasticity, Myoclonus, Appendicular spasticity, Opisthotonus, Spastic tetraplegia	OMIM:220120
Thanatophoric Dysplasia, Type I	Protuberant abdomen, Gray matter heterotopia, Disproportionate short-limb short stature, Lethal s...	OMIM:187600
Combined Oxidative Phosphorylation Deficiency 14	Myoclonus, Cerebellar atrophy	OMIM:614946
Intestinal Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia	ORPHA:178481
Waldenström Macroglobulinemia	Normocytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Leukemia, Abnormality of neutrophils	ORPHA:33226
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Failure to thrive, Cerebral palsy, Spastic ataxia, Paraparesis, Spastic tetraparesis, Chronic dia...	OMIM:620358
Abetalipoproteinemia	Impaired vibratory sensation, Broad-based gait, Vomiting, Failure to thrive, Steatorrhea, Positiv...	ORPHA:14
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Diarrhea, Vomiting, Failure to thrive, Increased body weight, Delayed puberty, Short stature, Nau...	ORPHA:264580
Biotinidase Deficiency	Optic atrophy, Vomiting, Diarrhea, Feeding difficulties in infancy, Ataxia	OMIM:253260
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Upper motor neuron dysfunction, Fasciculations	ORPHA:52430
Supranuclear Palsy, Progressive, 1	Falls, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Pa...	OMIM:601104
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro...	OMIM:154230
Van Maldergem Syndrome 1	Periventricular nodular heterotopia, Gray matter heterotopia, Pachygyria, Growth delay, Subcortic...	OMIM:601390
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop...	OMIM:615934
Graft Versus Host Disease	Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Chronic hepatitis, Acute hepatitis, Jaundice	ORPHA:39812
19P13.13 Microdeletion Syndrome	Optic atrophy, Vomiting, Diarrhea, Functional abnormality of the gastrointestinal tract, Abdomina...	ORPHA:357001
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis, Hepatitis, Lymphadenopathy	ORPHA:139402
Q Fever	Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Cholecystitis, Splenomegaly, Anemia, Lym...	ORPHA:781
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hemiballismus, Chorea, Hyperkinetic movements, Ataxia, Dystonia, Athetoid cerebral palsy, Choreoa...	ORPHA:522077
Lymphangioleiomyomatosis	Abnormal morphology of female internal genitalia, Ascites, Pulmonary lymphangiomyomatosis, Abnorm...	ORPHA:538
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Orofaciodigital Syndrome Vi	Failure to thrive, Polymicrogyria, Periventricular nodular heterotopia, Agenesis of corpus callos...	OMIM:277170
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration, Aganglionic megacolon, Ataxia	ORPHA:2318
Juvenile Sialidosis Type 2	Spasticity, Myoclonus, Dysmetria, Lower limb spasticity, Ataxia	ORPHA:93399
Neu-Laxova Syndrome	Abnormal cortical gyration, Polymicrogyria, Intrauterine growth retardation, Abnormality of neuro...	ORPHA:2671
Choreoacanthocytosis	Blepharospasm, Poor motor coordination, Involuntary movements, Resting tremor, Lateral ventricle ...	ORPHA:2388
Late-Onset Isolated Acth Deficiency	Diarrhea, Failure to thrive, Nausea and vomiting, Weight loss, Constipation, Orthostatic hypotens...	ORPHA:199299
Visceral Myopathy 1	Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Aganglionic megac...	OMIM:155310
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocyto...	ORPHA:93552
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch...	ORPHA:432
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hematochezia, Diarrhea, Tetraparesis, Intrauterine growth retardation, Weight...	OMIM:615846
Multiple Acyl-Coa Dehydrogenase Deficiency	Vomiting, Decreased liver function, Inability to walk, Reye syndrome-like episodes, Gray matter h...	ORPHA:26791
Riddle Syndrome	Diarrhea, Poor hand-eye coordination, Clumsiness, Weight loss, Gait disturbance, Ataxia, Short st...	ORPHA:420741
Transcobalamin Ii Deficiency	Vomiting, Diarrhea, Failure to thrive, Ataxia	OMIM:275350
Townes-Brocks Syndrome 2	Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
Full Schwannomatosis	Fasciculations	ORPHA:93921
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Spasticity, Cerebellar atrophy, Postural tremor, Myoclonus, Babinski sign, Ataxia, Truncal ataxia...	OMIM:301072
Sepsis In Premature Infants	Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac...	ORPHA:90051
Congenital Disorder Of Glycosylation, Type Im	Vomiting, Tetraplegia, Diarrhea, Failure to thrive	OMIM:610768
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Immunodeficiency, Common Variable, 7	Chronic diarrhea	OMIM:614699
Childhood Absence Epilepsy	Attention deficit hyperactivity disorder, Abnormal social behavior	ORPHA:64280
Citrullinemia Type Ii	Diarrhea, Vomiting, Decreased body mass index, Delayed menarche, Tremor	ORPHA:247585
Microphthalmia, Syndromic 9	Multilobulated spleen, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s...	OMIM:601186
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Cryptorchidism, Hepatopulmonary fusion, Aplasia of the uterus, A...	OMIM:618280
Agammaglobulinemia 8B, Autosomal Recessive	Chronic diarrhea, Failure to thrive	OMIM:619824
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto...	OMIM:615688
Poliomyelitis	Hyperkinetic movements, Paralysis, Paraparesis, Fasciculations	ORPHA:2912
Acute Intermittent Porphyria	Diarrhea, Somatic sensory dysfunction, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Tremor...	ORPHA:79276
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Carney Triad	Ascites, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Congenital Sialidosis Type 2	Spasticity, Myoclonus, Dysmetria, Hydrocephalus, Ataxia	ORPHA:93400
Peroxisome Biogenesis Disorder 1A (Zellweger)	Failure to thrive, Polymicrogyria, Loss of ambulation, Dysphagia, Gray matter heterotopia, Optic ...	OMIM:214100
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Immunodeficiency 14B, Autosomal Recessive	Colitis, Inflammation of the large intestine, Chronic diarrhea	OMIM:619281
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gastroesophageal reflux, Impaired pain sensation, Failure to thrive, Intrauterine growth retardat...	ORPHA:453499
Dengue Fever	Abdominal pain, Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting	ORPHA:99828
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Charcot-Marie-Tooth Disease Type 1F	Hand tremor, Fasciculations, Head tremor, Limb ataxia, Gait ataxia	ORPHA:101085
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Diarrhea, Gastrointestinal infarctions, Paresthesia, Nausea and vomi...	ORPHA:727
Neuroblastoma	Abdominal distention, Myoclonus, Antalgic gait, Weight loss, Horner syndrome, Ataxia, Chronic dia...	ORPHA:635
Farber Disease	Hepatic fibrosis, Ascites, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic ch...	ORPHA:333
Radiation Proctitis	Hematochezia, Diarrhea, Tenesmus, Intestinal obstruction, Abdominal pain, Constipation, Colitis, ...	ORPHA:70475
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Autosomal Dominant Severe Congenital Neutropenia	Recurrent aphthous stomatitis, Abdominal pain, Recurrent infection of the gastrointestinal tract,...	ORPHA:486
Triosephosphate Isomerase Deficiency	Spasticity, Failure to thrive, Tremor, Dystonia, Optic disc pallor, Unsteady gait	OMIM:615512
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Disproportionate short stature, Gastroesophageal reflux, Failure to t...	OMIM:210710
Immunodeficiency 9	Failure to thrive, Difficulty walking, Recurrent aphthous stomatitis, Chronic diarrhea, Stomatitis	OMIM:612782
Infantile Krabbe Disease	Spasticity, Myoclonus, Ankle clonus, Opisthotonus, Lower limb spasticity, Decerebrate rigidity, S...	ORPHA:206436
Primary Hepatic Neuroendocrine Carcinoma	Ascites, Chronic noninfectious lymphadenopathy, Hepatic cysts, Intermittent jaundice, Biliary tra...	ORPHA:100085
Periventricular Nodular Heterotopia	Gastroesophageal reflux, Periventricular heterotopia	ORPHA:98892
Alg1-Cdg	Chronic diarrhea, Decreased liver function	ORPHA:79327
Systemic Capillary Leak Syndrome	Diarrhea, Abdominal pain, Weight loss	ORPHA:188
Shigellosis	Hepatic failure, Vomiting, Tenesmus, Ulcerative colitis, Failure to thrive in infancy, Acute coli...	ORPHA:810
Tangier Disease	Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Orange d...	ORPHA:31150
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Rheumatic Fever	Chorea, Hemiballismus, Fasciculations	ORPHA:3099
Immunodeficiency 31C	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Impaired lymphocyte tran...	OMIM:614162
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Decreased erythrocyte fructose-1,...	OMIM:611881
Miller-Dieker Lissencephaly Syndrome	Failure to thrive, Progressive spastic paraplegia, Pachygyria, Intrauterine growth retardation, G...	OMIM:247200
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo...	OMIM:617718
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Chronic diarrhea	OMIM:618523
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea, Weight loss, Small for gestational age, Hand tremor	ORPHA:424
Ppoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ...	ORPHA:97278
Lysosomal Acid Lipase Deficiency	Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Malnutrition, N...	ORPHA:275761
Fatal Familial Insomnia	Myoclonus, Ataxia	OMIM:600072
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Female infertility, Streak ovary, Decreased fertility, Oligomenorrhea, Premature ovarian insuffic...	ORPHA:572333
Hyperglycinemia, Lactic Acidosis, And Seizures	Myoclonus, Spastic tetraplegia	OMIM:614462
Orofaciodigital Syndrome I	Abnormal cortical gyration, Agenesis of corpus callosum, Hypothalamic hamartoma, Short stature, G...	OMIM:311200
Congenital Disorder Of Deglycosylation 1	Involuntary movements, Chorea, Myoclonus, Action tremor, Dysmetria, Hyperkinetic movements, Athet...	OMIM:615273
Acute Adrenal Insufficiency	Diarrhea, Failure to thrive, Nausea and vomiting, Weight loss, Delayed puberty, Orthostatic hypot...	ORPHA:95409
Zttk Syndrome	Optic atrophy, Spasticity, Failure to thrive, Intrauterine growth retardation, Dysplastic corpus ...	OMIM:617140
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h...	ORPHA:567983
Car T Cell Therapy-Associated Cytokine Release Syndrome	Nausea, Vomiting, Diarrhea, Poor appetite	ORPHA:542323
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Kufor-Rakeb Syndrome	Blepharospasm, Oculogyric crisis, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyra...	ORPHA:306674
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia, Spasticity, Gastrostomy tube feeding in infancy	OMIM:618797
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Positive Romberg sign, Ataxia, Inten...	ORPHA:221139
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Colitis, Weight loss, Abdominal distention, Steatorr...	ORPHA:309031
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Gastroesophageal reflux, Failure to thrive in infancy, Gastrostomy tube feeding in infancy, Feedi...	OMIM:613385
Immunodeficiency 40	Focal active colitis, Intermittent diarrhea, Chronic diarrhea, Growth delay	OMIM:616433
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome...	OMIM:263200
Amyotrophic Lateral Sclerosis	Babinski sign, Spasticity, Paralysis, Fasciculations	ORPHA:803
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo...	OMIM:202010
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Early Infantile Epileptic Encephalopathy	Spasticity, Cerebellar atrophy, Episodic ataxia, Myoclonus, Tremor, Dystonia, Choreoathetosis	ORPHA:1934
Infantile Systemic Hyalinosis	Severe short stature, Failure to thrive, Malabsorption, Steatorrhea, Chronic diarrhea, Growth del...	ORPHA:2176
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Chronic diarrhea, Fat malabsorption, Steatorrhea	ORPHA:309108
Lassa Fever	Abdominal pain, Diarrhea, Nausea and vomiting, Dysphagia	ORPHA:99824
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Co...	ORPHA:83471
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Cholestasis, Leukocytosis, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:620233
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Spasticity, Cerebellar atrophy, Myoclonus, Hypertonia, Ataxia	OMIM:618426
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig...	ORPHA:90796
Mirage Syndrome	Gastroesophageal reflux, Intrauterine growth retardation, Paraplegia, Decreased body weight, Acha...	OMIM:617053
Inflammatory Skin And Bowel Disease, Neonatal, 1	Failure to thrive, Bloody diarrhea	OMIM:614328
Neurocutaneous Melanocytosis	Abnormality of neuronal migration, Hemiparesis	ORPHA:2481
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Spasticity, Type II lissencephaly, Optic nerve dysplasia, Agenesis of corpus callosum, Gray matte...	OMIM:615287
Coccidioidomycosis	Abnormality of the male genitalia, Abnormality of the spleen, Abnormality of the liver, Abnormali...	ORPHA:228123
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Acrodermatitis Enteropathica	Failure to thrive, Malabsorption, Weight loss, Anorexia, Short stature, Chronic diarrhea, Poor ap...	ORPHA:37
Hyperlipoproteinemia, Type Id	Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly	OMIM:615947
Relapsing Fever	Abdominal pain, Vomiting, Diarrhea	ORPHA:91547
Lissencephaly 2	Cerebellar hypoplasia, Hypoplasia of the pons	OMIM:257320
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Malabsorption, Cachexia, Steatorrhea, Chronic diarrhea	ORPHA:3217
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Diarrhea	ORPHA:2575
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Clitora...	OMIM:618419
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Lymphadenopathy	ORPHA:32960
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Meckel Syndrome 14	Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia	OMIM:619879
Estrogen Resistance	Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Cholestasis, Progressive Familial Intrahepatic, 6	Chronic diarrhea, Failure to thrive	OMIM:619484
Immunodeficiency 60 And Autoimmunity	Colitis, Chronic diarrhea, Ulcerative colitis, Crohn's disease	OMIM:618394
Helsmoortel-Van Der Aa Syndrome	Gastroesophageal reflux, Failure to thrive, Lateral ventricle dilatation, Intrauterine growth ret...	OMIM:615873
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreatitis, Lymp...	ORPHA:499009
Metachromatic Leukodystrophy, Adult Form	Memory impairment, Progressive psychomotor deterioration, Short attention span, Dementia, Abnorma...	ORPHA:309271
Lamb-Shaffer Syndrome	Abnormal social behavior	ORPHA:530983
Distal Renal Tubular Acidosis	Diarrhea, Vomiting, Failure to thrive, Paralysis, Constipation, Short stature, Growth delay, Poor...	ORPHA:18
Fanconi Anemia, Complementation Group L	Micropenis, Aplasia of the uterus, Anemia, Bone marrow hypocellularity	OMIM:614083
Familial Mediterranean Fever	Ascites, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, Lymphadenopathy	ORPHA:342
Holoprosencephaly 14	Gray matter heterotopia, Partial agenesis of the corpus callosum, Periventricular heterotopia	OMIM:619895
Turcot Syndrome With Polyposis	Hematochezia, Melena, Diarrhea, Vomiting, Nausea, Papilledema, Constipation, Ataxia, Abdominal pain	ORPHA:99818
Immunodeficiency 56	Hepatic failure, Recurrent infection of the gastrointestinal tract, Failure to thrive, Chronic di...	OMIM:615207
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Thrombocytopenia	ORPHA:3320
Genitourinary And/Or Brain Malformation Syndrome	Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Gray matte...	OMIM:618820
Lipodystrophy, Familial Partial, Type 7	Diarrhea, Dysdiadochokinesis, Failure to thrive, Vomiting, Gait ataxia, Dysmetria, Distal sensory...	OMIM:606721
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dystonia, Myoclonus, Ataxia	OMIM:619167
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly	OMIM:231005
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Spasticity, Gastroesophageal reflux, Lateral ventricle dilatation, Polymicrogyria,...	ORPHA:500150
Somatostatinoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Nausea and vomiting, Intestinal obst...	ORPHA:97283
Shwachman-Diamond Syndrome 2	Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Short stature, Steatorrhea	OMIM:617941
Glucagonoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Abnormal gastrointestinal motility, ...	ORPHA:97280
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus	OMIM:617914
Cerebrotendinous Xanthomatosis	Optic atrophy, Spasticity, Spastic paraparesis, Abnormal auditory evoked potentials, Resting trem...	ORPHA:909
Meckel Syndrome 12	Vaginal atresia, Hypoplasia of the uterus	OMIM:616258
Paroxysmal Nocturnal Hemoglobinuria 2	Abdominal pain, Diarrhea	OMIM:615399
Koolen-De Vries Syndrome	Failure to thrive, Intrauterine growth retardation, Feeding difficulties in infancy, Short statur...	OMIM:610443
Immunodeficiency 112	Chronic diarrhea	OMIM:620449
Developmental And Epileptic Encephalopathy 50	Broad-based gait, Diarrhea, Dysphagia, Failure to thrive	OMIM:616457
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Abnormal social behavior, Progressive psychomotor deterioration	ORPHA:309263
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hepatitis, Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemia, Lymphadenopathy, Ne...	ORPHA:37042
Angioedema, Hereditary, 1	Hypoesthesia, Abdominal pain, Vomiting, Diarrhea	OMIM:106100
Lujo Hemorrhagic Fever	Vomiting, Diarrhea, Resting tremor, Nausea, Abdominal cramps, Fulminant hepatitis, Dysphagia, Ody...	ORPHA:319213
Oeis Complex	Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute...	OMIM:258040
Multiple Myeloma	Anemia, Splenomegaly, Lymphadenopathy	ORPHA:29073
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Vomiting, Diarrhea	OMIM:605911
Hereditary Angioedema Type 1	Diarrhea, Vomiting, Paresthesia, Nausea, Abdominal pain, Dysphagia	ORPHA:100050
Grfoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ...	ORPHA:97261
Refractory Celiac Disease	Malnutrition, Malabsorption, Weight loss, Abdominal pain, Chronic diarrhea	ORPHA:398063
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Myoclonus, Tremor, Ataxia	ORPHA:98794
Tsh-Secreting Pituitary Adenoma	Irregular menstruation, Male hypogonadism, Periodic hypokalemic paresis, Abnormality of the menst...	ORPHA:91347
Igg4-Related Submandibular Gland Disease	Abnormal pancreas morphology, Eosinophilia, Prostatitis, Lymphadenopathy, Cholangitis, Retroperit...	ORPHA:449432
Juvenile Polyposis Of Infancy	Hematochezia, Intestinal bleeding, Diarrhea, Gastrointestinal hemorrhage, Cachexia, Melena, Short...	ORPHA:79076
Mucopolysaccharidosis, Type Iiid	Diarrhea, Difficulty walking, Short stature, Tube feeding, Dysphagia	OMIM:252940
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Oculomotor apraxia, Lissencephaly	OMIM:617822
Dominant Beta-Thalassemia	Diarrhea, Failure to thrive in infancy, Delayed puberty, Growth delay, Feeding difficulties	ORPHA:231226
Familial Gestational Hyperthyroidism	Diarrhea, Weight loss, Hand tremor	ORPHA:99819
Immunodeficiency 22	Diarrhea, Failure to thrive, Protracted diarrhea	OMIM:615758
Lysinuric Protein Intolerance	Diarrhea, Vomiting, Failure to thrive, Malnutrition, Protein avoidance, Truncal obesity, Short st...	OMIM:222700
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Short stature, Periventricular heterotopia	OMIM:618870
Smith-Lemli-Opitz Syndrome	Vomiting, Gastroesophageal reflux, Failure to thrive, Intrauterine growth retardation, Periventri...	OMIM:270400
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen...	ORPHA:2211
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Feeding difficulties, Polymicrogyria	OMIM:614887
Mucopolysaccharidosis, Type Iiic	Diarrhea, Dysphagia	OMIM:252930
Nk-Cell Enteropathy	Hematochezia, Diarrhea, Gastroesophageal reflux, Constipation, Abdominal pain	ORPHA:263665
Lathosterolosis	Myoclonus, Cerebellar cortical atrophy, Meningocele, Chiari malformation	ORPHA:46059
Holoprosencephaly	Optic atrophy, Spasticity, Gastroesophageal reflux, Failure to thrive in infancy, Chorea, Abnorma...	ORPHA:2162
Bronchial Neuroendocrine Tumor	Hepatic failure, Protracted diarrhea, Bowel urgency, Weight loss, Anorexia, Poor appetite	ORPHA:97287
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Myoclonus, Hyperkinetic movements, Hypertonia, Dystonia, Choreoathetosis	ORPHA:17
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Labial hypertrophy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Ci...	OMIM:608594
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys	ORPHA:2237
Avian Influenza	Abdominal pain, Vomiting, Diarrhea	ORPHA:454836
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Lethal short-limbed short stature	ORPHA:1860
Van Maldergem Syndrome 2	Periventricular nodular heterotopia, Gray matter heterotopia, Growth delay, Subcortical band hete...	OMIM:615546
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Spasticity, Diarrhea, Myoclonus, Episodic vomiting	OMIM:246450
Hurler Syndrome	Abnormal nerve conduction velocity, Spastic paraparesis, Cerebral palsy, Abnormal pyramidal sign,...	ORPHA:93473
Brucellosis	Hypersplenism, Abnormality of the liver, Leukopenia, Leukocytosis, Splenomegaly, Orchitis, Anemia...	ORPHA:1304
Mucopolysaccharidosis, Type Iiib	Diarrhea	OMIM:252920
Glucocorticoid Deficiency 2	Spastic tetraparesis, Myoclonus	OMIM:607398
Malakoplakia	Prostate neoplasm, Follicular hyperplasia, Orchitis	ORPHA:556
Zygomycosis	Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal cranial nerve morphology,...	ORPHA:73263
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Hypoplasia of the uterus	ORPHA:785
Mucopolysaccharidosis, Type Iiia	Diarrhea	OMIM:252900
Primary Intestinal Lymphangiectasia	Functional abnormality of the gastrointestinal tract, Weight loss, Abdominal pain, Chronic diarrh...	ORPHA:90362
Leukocyte Adhesion Deficiency Type Ii	Failure to thrive, Intrauterine growth retardation, Recurrent gastroenteritis, Impaired tandem ga...	ORPHA:99843
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,...	OMIM:119500
Combined Oxidative Phosphorylation Deficiency 11	Tongue fasciculations, Myoclonus	OMIM:614922
Neuroendocrine Neoplasm Of Appendix	Abdominal colic, Protracted diarrhea, Hypoactive bowel sounds, Nausea and vomiting, Mechanical il...	ORPHA:100079
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Inflammation of the large intestine, Diarrhea, Chronic gastritis, Esophagitis, Chronic constipati...	OMIM:301074
Hyperzincemia With Functional Zinc Depletion	Diarrhea	OMIM:601979
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Decreased proportion of CD8-positive...	ORPHA:331235
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Periventricular nodular heterotopia, Optic nerve hypoplasia, Agenesis of...	OMIM:603671
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Labial hypertrophy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Ci...	OMIM:269700
Osteootohepatoenteric Syndrome	Secretory diarrhea, Failure to thrive, Increased intestinal transit time, Weight loss, Episodic v...	OMIM:619377
Mhc Class Ii Deficiency 1	Colitis, Malabsorption, Failure to thrive, Protracted diarrhea	OMIM:209920
Imerslund-Grasbeck Syndrome 2	Diarrhea, Growth delay	OMIM:618882
Addison Disease	Diarrhea, Failure to thrive, Nausea and vomiting, Weight loss, Delayed puberty, Orthostatic hypot...	ORPHA:85138
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Gray matter heterotopia, Lower limb spasticity	OMIM:620475
Hennekam Syndrome	Ascites, Lymphopenia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Lymphangioma	ORPHA:2136
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thrombocytopenia	OMIM:607944
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Diarrhea, Acute hepatic failure, Nausea and vomiting, Weight loss, A...	ORPHA:36426
Carnitine Palmitoyltransferase I Deficiency	Diarrhea, Feeding difficulties	OMIM:255120
Immunodeficiency 58	Failure to thrive, Recurrent aphthous stomatitis, Esophagitis, Helicobacter pylori infection, Sho...	OMIM:618131
Fructose-1,6-Bisphosphatase Deficiency	Vomiting, Diarrhea, Reye syndrome-like episodes	ORPHA:348
Mucopolysaccharidosis Type 3	Vocal cord paresis, Spasticity, Optic atrophy, Malabsorption, Loss of ambulation, Gait disturbanc...	ORPHA:581
Nmda Receptor Encephalitis	Involuntary movements, Diarrhea, Vomiting, Orthostatic tachycardia, Chorea, Myoclonus, Rigidity, ...	ORPHA:217253
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia, Obesity	OMIM:608624
Listeriosis	Diarrhea, Vomiting, Somatic sensory dysfunction, Myoclonus, Tremor, Hemiparesis, Nausea, Peritoni...	ORPHA:533
African Trypanosomiasis	Alopecia, Involuntary movements, Somatic sensory dysfunction, Fasciculations, Difficulty walking,...	ORPHA:3385
Diarrhea 1, Secretory Chloride, Congenital	Secretory diarrhea, Growth delay, Failure to thrive, Abdominal distention	OMIM:214700
Trichothiodystrophy 1, Photosensitive	Malabsorption, Intestinal obstruction, Short stature, Chronic diarrhea, Small for gestational age	OMIM:601675
9P13 Microdeletion Syndrome	Myoclonus, Hand tremor	ORPHA:324313
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Chronic hepatitis, Leukocytosis, S...	ORPHA:3260
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Intrauterine growth retardation, Intestinal obstruction, Enterocolitis, Bloody diar...	OMIM:243150
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Beta-Thalassemia Major	Diarrhea, Failure to thrive in infancy, Delayed puberty, Growth delay, Feeding difficulties	ORPHA:231214
Mitchell-Riley Syndrome	Intrauterine growth retardation, Diarrhea, Malabsorption	OMIM:615710
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig...	ORPHA:90794
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Cholera	Vomiting, Diarrhea, Achlorhydria, Abdominal pain, Abdominal cramps	ORPHA:173
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Vomiting, Secretory diarrhea, Acute colitis, Gastrointestinal infarctions, Hemiparesis,...	ORPHA:544482
Autoerythrocyte Sensitization Syndrome	Vomiting, Gastrointestinal hemorrhage, Diarrhea, Nausea	ORPHA:324636
Bacterial Toxic-Shock Syndrome	Diarrhea, Vomiting, Nausea, Peritonitis, Abdominal pain	ORPHA:36234
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Aplasia of the uterus, Eosinophilia, Thrombocytopenia, Anemia, ...	OMIM:274000
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Tremor, Neonatal death, Clonus, Hypertonia, Dystonia, Growth delay	OMIM:617248
Acute Radiation Syndrome	Vomiting, Diarrhea	ORPHA:454831
Juvenile Polyposis Syndrome	Hematochezia, Abdominal pain, Diarrhea, Failure to thrive	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, Gray matter heterotopia, Feeding difficulties	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, Vomiting, Chronic constipation, Crohn's disease, Episodic abdominal pain, Peritonitis, ...	OMIM:249100
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Decreased proportion of naive ...	OMIM:619381
Scorpion Envenomation	Hemifacial spasm, Myoclonus, Tremor, Hyperkinetic movements, Ataxia	ORPHA:466677
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Chronic active hepatitis, Lymphopenia, Leukopenia, Decrease...	ORPHA:289390
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Intrauterine growth retardation, Chronic constipation, Decreased body we...	OMIM:619005
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia	OMIM:203700
Immunodeficiency 23	Cortical myoclonus, Myoclonus, Ataxia	OMIM:615816
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Aganglionic megacolon, Diarrhea, Constipation	OMIM:162300
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Nijmegen Breakage Syndrome	Short stature, Cachexia, Chronic diarrhea, Abnormality of neuronal migration	ORPHA:647
Deeah Syndrome	Impaired pain sensation, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Mala...	OMIM:619004
Rothmund-Thomson Syndrome Type 1	Vomiting, Diarrhea, Nasogastric tube feeding, Functional abnormality of the gastrointestinal trac...	ORPHA:221008
Bile Acid Malabsorption, Primary, 2	Steatorrhea, Chronic diarrhea	OMIM:619481
Hydrolethalus Syndrome 1	Bifid uterus, Hypospadias, Abnormal vagina morphology, Accessory spleen	OMIM:236680
Paroxysmal Cold Hemoglobinuria	Diarrhea, Nausea and vomiting	ORPHA:90035
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Diarrhea, Malabsorption	OMIM:240300
Congenital Disorder Of Glycosylation, Type It	Vomiting, Delayed puberty, Short stature, Chronic diarrhea, Growth delay	OMIM:614921
Ileal Neuroendocrine Tumor	Hepatic failure, Episodic abdominal pain, Nausea, Weight loss, Abnormal bowel sounds, Episodic vo...	ORPHA:100078
Crimean-Congo Hemorrhagic Fever	Ascites, Pancytopenia, Leukopenia, Leukocytosis, Cholecystitis, Splenomegaly, Orchitis, Lymphaden...	ORPHA:99827
Microvillus Inclusion Disease	Diarrhea, Abdominal distention	ORPHA:2290
Dopamine Beta-Hydroxylase Deficiency	Vomiting, Diarrhea, Orthostatic hypotension	ORPHA:230
Ogden Syndrome	Diarrhea, Vomiting, Postnatal growth retardation, Intrauterine growth retardation, Dysphagia, Tor...	OMIM:300855
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Failure to thrive, Enterocolitis, Delayed puberty,...	ORPHA:79259
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Short stature, Diarrhea, Delayed puberty	OMIM:307200
Proximal Renal Tubular Acidosis	Diarrhea, Vomiting, Failure to thrive, Malabsorption, Mild postnatal growth retardation, Short st...	ORPHA:47159
Dyskeratosis Congenita, Autosomal Dominant 2	Short stature, Chronic diarrhea, Failure to thrive	OMIM:613989
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Esophagitis, Intestinal obstruction, Episodi...	ORPHA:913
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Biliary tract abnormality, Pancreatic a...	OMIM:137920
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Myoclonic spasms	ORPHA:73224
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Colitis, Chronic diarrhea	OMIM:301220
Rothmund-Thomson Syndrome Type 2	Vomiting, Diarrhea, Nasogastric tube feeding, Functional abnormality of the gastrointestinal trac...	ORPHA:221016
Multiple Mitochondrial Dysfunctions Syndrome 7	Myoclonus, Ankle clonus, Hypertonia, Exaggerated startle response, Dystonia	OMIM:620423
Alg9-Cdg	Rhizomelia, Diarrhea, Vomiting, Gastroesophageal reflux, Lower limb spasticity, Torticollis	ORPHA:79328
Opsoclonus-Myoclonus Syndrome	Rigidity, Myoclonus, Limb myoclonus, Ataxia	ORPHA:1183
Fg Syndrome Type 1	Attention deficit hyperactivity disorder, Abnormal social behavior	ORPHA:93932
Dubowitz Syndrome	Gastroesophageal reflux, Postnatal growth retardation, Intrauterine growth retardation, Feeding d...	OMIM:223370
Bartter Syndrome, Type 1, Antenatal	Diarrhea, Vomiting, Failure to thrive, Paresthesia, Constipation, Short stature, Small for gestat...	OMIM:601678
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Colitis, Recurrent aphthous stomatitis, Diarrhea, Abdominal pain	OMIM:613960
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Myoclonus, Clonus, Spastic tetraplegia	OMIM:619055
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Diarrhea	OMIM:619313
Immunodeficiency, Common Variable, 14	Chronic diarrhea	OMIM:617765
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal mesentery morphology, Cholecystitis, Sclerosing cholangitis, Prostatitis,...	ORPHA:449395
Rothmund-Thomson Syndrome	Vomiting, Diarrhea, Short stature, Nasogastric tube feeding in infancy, Small for gestational age	ORPHA:2909
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Secretory diarrhea, Optic disc coloboma, Abdominal distention	OMIM:270420
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Vomiting, Acute colitis, Peritonitis, Abdominal pain, Bloody diarrhea	ORPHA:90038
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:609441
Immunodeficiency 25	Protracted diarrhea	OMIM:610163
Sarcoidosis	Abnormal lymph node morphology, Leukopenia, Portal hypertension, Abnormal reproductive system mor...	ORPHA:797
Immunodeficiency 59 And Hypoglycemia	Short stature, Recurrent aphthous stomatitis, Malabsorption, Chronic diarrhea	OMIM:233600
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Glycogen Storage Disease Ia	Delayed puberty, Protuberant abdomen, Short stature, Intermittent diarrhea, Growth delay	OMIM:232200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Chronic diarrhea, Diarrhea, Failure to thrive	OMIM:102700
Igg4-Related Ophthalmic Disease	Orchitis, Eosinophilia, Prostatitis, Pancreatitis, Lymphadenopathy, Cholangitis, Retroperitoneal ...	ORPHA:449563
Gitelman Syndrome	Diarrhea, Failure to thrive, Paresthesia, Nausea and vomiting, Paralysis, Constipation, Delayed p...	ORPHA:358
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Vomiting, Failure to thrive, Exocrine pancreatic insufficiency, Malabsorption, A...	OMIM:557000
Phocomelia, Schinzel Type	Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism	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	Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy	ORPHA:667
Trichohepatoneurodevelopmental Syndrome	Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficiency, Decreased b...	OMIM:618268
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Pearson Syndrome	Hepatic failure, Growth delay, Exocrine pancreatic insufficiency, Postnatal growth retardation, A...	ORPHA:699
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Diarrhea, Failure to thrive, Myoclonus, Tetraplegia, Feeding difficulties	OMIM:618278
Bartter Syndrome, Type 2, Antenatal	Diarrhea, Vomiting, Failure to thrive, Paresthesia, Constipation, Short stature, Small for gestat...	OMIM:241200
Hemorrhagic Fever-Renal Syndrome	Vomiting, Diarrhea, Decreased body weight, Nausea, Hematemesis, Melena, Abdominal pain	ORPHA:340
T-Cell Immunodeficiency With Thymic Aplasia	Chronic diarrhea, Failure to thrive	OMIM:242700
Diamond-Blackfan Anemia 21	Short stature, Obesity, Chronic diarrhea	OMIM:620072
Multiple Endocrine Neoplasia Type 1	Melena, Diarrhea, Gastroesophageal reflux, Vomiting, Cranial nerve compression, Nausea, Weight lo...	ORPHA:652
Syndromic Diarrhea	Intractable diarrhea, Bloody diarrhea, Intrauterine growth retardation, Gastritis, Dependency on ...	ORPHA:84064
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Spastic paraparesis, Myoclonus, Torticollis, Ataxia, Spastic tetraplegia	OMIM:609136
Reactive Arthritis	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Weight loss, Abdomi...	ORPHA:29207
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Diarrhea, Hemiparesis	OMIM:235400
Arima Syndrome	Gray matter heterotopia, Optic atrophy, Growth delay, Ataxia	OMIM:243910
Nijmegen Breakage Syndrome	Short stature, Intrauterine growth retardation, Diarrhea, Recurrent infection of the gastrointest...	OMIM:251260
Turner Syndrome Due To Structural X Chromosome Anomalies	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea	ORPHA:99413
Mosaic Monosomy X	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea	ORPHA:99228
Monosomy X	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea	ORPHA:99226
Turner Syndrome	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, 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	Diarrhea, Falls, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Inability to walk, Fac...	ORPHA:273
Dubowitz Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Malabsorption, Short stature, Chro...	ORPHA:235
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Spasticity, Cerebellar dysplasia, Myoclonus, Cerebellar hypoplasia, Hydrocephalus, Cerebellar cyst	OMIM:253280
Behçet Disease	Splenomegaly, Pancreatitis, Lymphadenopathy, Orchitis	ORPHA:117
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Splenomegaly, Cardiomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, E...	OMIM:256040
Trichohepatoenteric Syndrome 1	Hepatic failure, Intractable diarrhea, Failure to thrive, Intrauterine growth retardation, Short ...	OMIM:222470
Colchicine Poisoning	Nausea, Vomiting, Diarrhea	ORPHA:31824
Orofaciodigital Syndrome Xiv	Optic disc coloboma, Polymicrogyria, Periventricular heterotopia, Partial agenesis of the corpus ...	OMIM:615948
Rat-Bite Fever	Diarrhea, Vomiting, Weight loss, Parotitis	ORPHA:31205
Myoclonic Epilepsy Of Lafora 1	Apraxia, Myoclonus	OMIM:254780
Wolf-Hirschhorn Syndrome	Precocious puberty, Accessory spleen, Cryptorchidism, Biliary tract abnormality, Aplasia of the u...	OMIM:194190
Mednik Syndrome	Diarrhea, Growth delay	OMIM:609313
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Diarrhea, Failure to thrive in infancy, Intrauterine growth retardat...	ORPHA:247598
Okamoto Syndrome	Bifid uterus, Splenomegaly	ORPHA:2729
Acute Liver Failure	Pain insensitivity, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Incoordination, Ataxia, Naus...	ORPHA:90062
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Failure to thrive, Protracted diarrhea	ORPHA:331206
Woodhouse-Sakati Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, H...	OMIM:241080
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea	OMIM:226730
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias	OMIM:309801
Genitopatellar Syndrome	Periventricular heterotopia, Agenesis of corpus callosum, Colpocephaly, Pachygyria, Dysphagia, Fe...	OMIM:606170
Microsporidiosis	Vomiting, Intermittent diarrhea, Nausea, Peritonitis, Cachexia, Weight loss, Anorexia, Abdominal ...	ORPHA:2552
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:181000
Cystic Fibrosis	Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Ileus, Steatorrhea, Meconium ileus	OMIM:219700
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Orofaciodigital Syndrome Type 14	Partial agenesis of the corpus callosum, Periventricular heterotopia, Gastrostomy tube feeding in...	ORPHA:434179
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Diarrhea, Enterocolitis, Delayed puberty, Short stature, Growth delay	ORPHA:391487
Immunodeficiency 92	Esophagitis, Chronic diarrhea	OMIM:619652
Autoinflammatory Disease, Systemic, With Vasculitis	Diarrhea, Failure to thrive, Parotitis, Intrauterine growth retardation, Colitis, Abdominal pain	OMIM:620376
Exstrophy-Epispadias Complex	Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Bifid uterus, A...	ORPHA:322
Cocaine Intoxication	Involuntary movements, Vomiting, Gastrointestinal infarctions, Tremor, Nausea, Abdominal pain, Co...	ORPHA:90068
Prader-Willi Syndrome Due To Translocation	Attention deficit hyperactivity disorder, Abnormal social behavior, Reduced social reciprocity	ORPHA:177907
46,Xy Partial Gonadal Dysgenesis	Sparse pubic hair, Azoospermia, Streak ovary, Sparse axillary hair, Decreased fertility in female...	ORPHA:251510
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Broad-based gait, Polymicrogyria	OMIM:618918
Vipoma	Secretory diarrhea, Abnormal gastrointestinal motility, Malabsorption, Nausea and vomiting, Episo...	ORPHA:97282
Woodhouse-Sakati Syndrome	Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis, Micropenis, Hypo...	ORPHA:3464
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	Dependency on parenteral nutrition, Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Malnu...	OMIM:619991
Plague	Inflammation of the large intestine, Diarrhea, Vomiting, Enterocolitis, Hematemesis, Anorexia, Ab...	ORPHA:707
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Spasticity, Failure to thrive, Pancolitis, Eosinophilic infiltration of the esophagus, Bloody dia...	OMIM:618213
Good Syndrome	Diarrhea, Dysphagia	ORPHA:169105
Pagod Syndrome	Short stature, Optic atrophy, Abnormality of neuronal migration	ORPHA:991
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Hepatic failure, Secretory diarrhea, Necrotizing enterocolitis, Intrauterine ...	OMIM:619573
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Diarrhea, Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, Nau...	OMIM:147060
Multiple Endocrine Neoplasia Type 2	Diarrhea, Ganglioneuromatosis, Aganglionic megacolon, Constipation, Abdominal distention	ORPHA:653
Fontaine Progeroid Syndrome	Gastroesophageal reflux, Failure to thrive, Intrauterine growth retardation, Periventricular hete...	OMIM:612289
Phoar2-Enteropathy Syndrome	Secretory diarrhea	OMIM:614441
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Hematemesis, Melena, Bloody diarrhea	ORPHA:464321
Mowat-Wilson Syndrome	Spasticity, Broad-based gait, Vomiting, Impaired pain sensation, Polymicrogyria, Inability to wal...	ORPHA:2152
Lysinuric Protein Intolerance	Hepatic failure, Vomiting, Diarrhea, Failure to thrive, Steatorrhea, Feeding difficulties	ORPHA:470
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Spasticity, Broad-based gait, Lateral ventricle dilatation, Failure to thrive, Impaired pain sens...	ORPHA:261537
Chronic Graft Versus Host Disease	Diarrhea, Xerostomia, Gastroesophageal reflux, Abnormal esophagus physiology, Nausea, Weight loss...	ORPHA:99921
Immunodeficiency 17	Chronic diarrhea, Failure to thrive, Recurrent gastroenteritis	OMIM:615607
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia	ORPHA:536
Blau Syndrome	Anemia, Splenomegaly, Abnormality of the liver, Lymphadenopathy	ORPHA:90340
Mucoepithelial Dysplasia, Hereditary	Chronic diarrhea, Melena	OMIM:158310
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia, Neoplasm of the thymus, P...	ORPHA:99889
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Diarrhea, Hematemesis, Melena, Chronic diarrhea, Ulcerative ...	OMIM:301000
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
Lafora Disease	Myoclonus, Spasticity, Erratic myoclonus, Ataxia	ORPHA:501
Ehlers-Danlos Syndrome, Vascular Type	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Anemia, Cervical insufficiency	OMIM:130050
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy, Thrombocytopenia, Retroperitoneal fibrosis	ORPHA:79078
Immunodeficiency 47	Exocrine pancreatic insufficiency, Chronic diarrhea, Failure to thrive	OMIM:300972
Multiple Endocrine Neoplasia, Type I	Diarrhea, Esophagitis	OMIM:131100
Secondary Intestinal Lymphangiectasia	Intestinal bleeding, Vomiting, Abdominal colic, Malabsorption, Intestinal obstruction, Chronic di...	ORPHA:90363
Ectodermal Dysplasia-Skin Fragility Syndrome	Short stature, Difficulty walking, Chronic diarrhea, Failure to thrive	ORPHA:158668
Mucopolysaccharidosis Type 2	Optic atrophy, Decreased nerve conduction velocity, Papilledema, Short stature, Chronic diarrhea,...	ORPHA:580
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Optic atrophy, Spasticity, Broad-based gait, Lateral ventricle dilatation, Failure to thrive, Imp...	ORPHA:261552
Leptospirosis	Hepatitis, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice	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	Hematochezia, Secretory diarrhea, Feeding difficulties	OMIM:618183
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria...	OMIM:201750
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Papilledema, Short stature, Chronic diarrhea, Growth delay	ORPHA:217085
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Memory impairment, Abnormal social behavior	ORPHA:314647
Koolen-De Vries Syndrome Due To A Point Mutation	Abnormal social behavior, Attention deficit hyperactivity disorder, Inappropriate laughter, Overf...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Abnormal social behavior, Attention deficit hyperactivity disorder, Inappropriate laughter, Overf...	ORPHA:363958
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Papilledema, Short stature, Chronic diarrhea, Growth delay	ORPHA:217093
Peutz-Jeghers Syndrome	Abdominal pain, Intestinal bleeding, Bloody diarrhea	OMIM:175200
Sapho Syndrome	Inflammation of the large intestine, Malabsorption, Steatorrhea, Abdominal pain, Chronic diarrhea	ORPHA:793
Combined Immunodeficiency-Enteropathy Spectrum	Intrauterine growth retardation, Bloody diarrhea, Abdominal distention	ORPHA:436252
Juvenile Polyposis Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Failure to thrive, Abdominal pain, Growth delay	ORPHA:2929
Occipital Horn Syndrome	Chronic diarrhea, Growth delay, Orthostatic hypotension	OMIM:304150
Multiple Endocrine Neoplasia Type 4	Episodic abdominal pain, Diarrhea, Esophagitis	ORPHA:276152
Coffin-Siris Syndrome 1	Aplasia of the uterus, Clitoral hypertrophy, Hypospadias, Cryptorchidism	OMIM:135900
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Secretory diarrhea	OMIM:167100
Wiskott-Aldrich Syndrome	Hematochezia, Inflammation of the large intestine, Chronic diarrhea, Hematemesis	ORPHA:906
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Failure to thrive, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Intermitte...	ORPHA:2255
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Failure to thrive in infancy, Recurrent infection of the gastrointestinal tract, Chronic diarrhea	ORPHA:35078
Kawasaki Disease	Abdominal pain, Diarrhea, Nausea and vomiting	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	Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias	OMIM:276820
Yellow Fever	Vomiting, Diarrhea, Nausea, Hematemesis, Abdominal pain	ORPHA:99829
Townes-Brocks Syndrome 1	Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa...	OMIM:107480
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent infection of the gastrointestinal tract, Chronic diarrhea, 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	Short stature, Spasticity, Diarrhea	OMIM:208400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Diarrhea, Xerostomia, Oral-pharyngeal dysphagia, Anorexia, Gastrointestinal inflammation, Abdomin...	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	Feeding difficulties in infancy, Gastroesophageal reflux, Chronic diarrhea	ORPHA:3164
Peters-Plus Syndrome	Cryptorchidism, Biliary tract abnormality, Hypoplastic labia majora, Hypoplasia of the vagina, Bi...	OMIM:261540
Viss Syndrome	Gastroesophageal reflux, Failure to thrive, Chronic gastritis, Chronic constipation, Abdominal di...	OMIM:619472
Norrie Disease	Uterine rupture, Cryptorchidism	ORPHA:649
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypospadias	ORPHA:286
Neonatal Inflammatory Skin And Bowel Disease	Bloody diarrhea, Recurrent gastroenteritis	ORPHA:294023
Pallister-Killian Syndrome	Small scrotum, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia majora, Aplasia of the up...	OMIM:601803
Peters Plus Syndrome	Hypoplasia of the uterus, Hypospadias, Cryptorchidism, Clitoral hypoplasia	ORPHA:709
Williams Syndrome	Attention deficit hyperactivity disorder, Abnormal social behavior, Overfriendliness	ORPHA:904
Proteus Syndrome	Gray matter heterotopia, Cachexia	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

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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)	Reln^{tm1a(KOMP)Mbp}	PMC4732900

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MGI Allele	Allele Type	Produced
Reln^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Reln^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Reln^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Reln^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Reln^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Reln MGI:103022

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

MicroCT E18.5

Human diseases caused by Reln mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data