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Gene: Smpd1 MGI:98325

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sphingomyelin phosphodiesterase 1, acid lysosomal
Synonyms:
Zn-SMase,  A-SMase,  acid sphingomyelinase,  ASM,  aSMase

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Smpd1 mutations

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

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

The table below shows human diseases associated to Smpd1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Hypertriglyceridemia, Bone-marrow foam cells, Thr... OMIM:607616
Niemann-Pick Disease, Type A
Hepatomegaly, Recurrent respiratory infections, Elevated circulating aspartate aminotransferase c... OMIM:257200
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Respiratory failure requiring assisted ventilation, Hypertriglyceridemia, Ataxia, A... ORPHA:77293

The table below shows human diseases predicted to be associated to Smpd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance ORPHA:2274
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia, Hepatosplenomegaly OMIM:242520
Autosomal Recessive Spastic Paraplegia Type 46
Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Ataxia, Corpus callosum atrophy, Bab... ORPHA:320391
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... OMIM:615268
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Diffuse cerebral atrophy, R... OMIM:607136
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady... ORPHA:101010
Spastic Paraplegia 32, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Cerebral atrophy, A... OMIM:611252
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... OMIM:617018
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism... OMIM:615768
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Autosomal Recessive Spastic Paraplegia Type 32
Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pons morphology, Difficu... ORPHA:171622
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Babinski sign, Impaired distal vibrat... OMIM:619742
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Distal sen... OMIM:616719
Spinocerebellar Ataxia 12
Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Depression, Progressive cerebellar a... OMIM:604326
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... OMIM:143100
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Dystonia, Splenomegaly, Cou... ORPHA:77260
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance ORPHA:98766
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, My... OMIM:615924
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Myoclonus, Lethargy, Spasticity... OMIM:617065
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Depress... OMIM:615362
Sodium-Dependent Multivitamin Transporter Deficiency
Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Cerebral atrophy, Spasticity, Decreas... OMIM:618973
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive, Ataxia, Cerebral cortical atrophy ORPHA:622
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Dystonia 23
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Myoclonu... ORPHA:139406
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Axonal degeneration, Tetraplegia, Hand tremor, Distal sensory impairment, Degener... OMIM:604484
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Cerebellar atrophy, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... OMIM:618369
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, Tongue fasciculations, Tet... OMIM:618276
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Hypoplasia of the brainstem, Hypertoni... OMIM:618730
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Ataxia, Babinski sign, Abnormal pyramidal sig... ORPHA:204
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia OMIM:611694
Leukodystrophy, Hypomyelinating, 21
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Corpus callosum atrophy, Cryptorchidis... OMIM:619310
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, ... OMIM:606777
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Respiratory failure, Hyp... OMIM:225753
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Bradykinesia, Gait ... OMIM:221820
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadoc... OMIM:224050
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... OMIM:600143
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Ataxia, Corpus callosum atrophy,... OMIM:619389
Gordon Holmes Syndrome
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Chorea, Secondary amenorrhea, Primary ... OMIM:212840
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebra... ORPHA:521406
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly ORPHA:171703
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Diffi... OMIM:619565
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Rft1-Cdg
Hepatomegaly, Ataxia, Cerebral cortical atrophy, Cerebral atrophy ORPHA:244310
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocyte... OMIM:256731
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Babinski sign, Hand tremor, Depressi... OMIM:615889
Nescav Syndrome
Appendicular spasticity, Cerebellar atrophy, Ataxia, Inability to walk, Babinski sign, Cerebral a... OMIM:614255
Mast Syndrome
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... OMIM:248900
Pontocerebellar Hypoplasia, Type 6
Appendicular spasticity, Lower limb spasticity, Cerebellar atrophy, Cerebellar vermis hypoplasia,... OMIM:611523
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Microlissencephaly
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Polymicrogyria, Simplif... ORPHA:1083
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Neonatal respiratory distress, Apnea, Respirat... ORPHA:168486
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Depres... ORPHA:248111
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor OMIM:618876
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Depression, Difficulty walking, Cere... OMIM:619425
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... OMIM:614877
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impaired vibratory sensation, Lower limb spasticity, Abnormal cerebellar peduncle morphology, Cer... ORPHA:98
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesi... ORPHA:71277
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G... OMIM:616230
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic paraple... OMIM:238970
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Lower limb spasticity, Ataxia, Cerebral atrophy, Hypertonia, Upper limb spast... OMIM:613925
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Cerebellar atrophy, Ataxia, Parkinsonism, Babinski ... OMIM:617225
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... ORPHA:94124
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... ORPHA:276193
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... OMIM:610185
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... OMIM:302500
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... OMIM:300423
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morpholog... ORPHA:2585
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Lethargy, Spasticity OMIM:617829
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Babinski sign, Spastic p... OMIM:614409
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysm... OMIM:617145
Spinocerebellar Ataxia Type 2
Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce... ORPHA:98756
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Lower limb spasticity, Inability to walk, Cerebral atrophy, Upper limb spasti... OMIM:618468
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Megaloblastic anemia, Cerebral atro... OMIM:236270
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Failur... OMIM:614372
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Dihydropyrimidine Dehydrogenase Deficiency
Tetraplegia, Cerebral atrophy, Hypertonia, Lethargy, Failure to thrive OMIM:274270
Periventricular Nodular Heterotopia 8
Spasticity, Periventricular nodular heterotopia, Cerebellar vermis atrophy OMIM:618185
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations, Neu... OMIM:611721
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Ataxia, Myoclonus OMIM:616187
Developmental And Epileptic Encephalopathy 14
Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervous system, Cerebral corti... OMIM:614959
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia OMIM:614322
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Cerebellar vermis hypoplasia, Unsteady ga... OMIM:616127
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... ORPHA:50251
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Depression, Bradykinesia, Gait ata... ORPHA:71517
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia, Tremor OMIM:619099
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Congenital Disorder Of Glycosylation, Type Iiz
Appendicular spasticity, Diffuse cerebellar atrophy, Clonus OMIM:620201
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor OMIM:608029
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Diminished motivation, Tremor, Dysmetria, Gait ataxia, Ataxia, Depression, Limb fasciculations, S... OMIM:615157
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Hyperalaninemia, Cerebellar atrophy, Ataxia, Spastic tetraparesis, Elevated circulating acylcarni... OMIM:615838
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Babinski sign, Abnormal cerebellar cortex morphology, Gait ataxia, Spast... ORPHA:101111
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Classic Galactosemia
Male infertility, Speech apraxia, Premature ovarian insufficiency, Ataxia, Incoordination, Postur... ORPHA:79239
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Depres... OMIM:605361
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Hand tremor, Gait ataxia, Atrophy/Degeneration affecting th... OMIM:617862
Spinocerebellar Ataxia Type 43
Unsteady gait, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Distal... ORPHA:497764
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... OMIM:613728
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Hypertriglyceridemia, Bone-marrow foam cells, Thr... OMIM:607616
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventriculomegaly, Cerebellar atrophy, ... OMIM:610333
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, R... ORPHA:240103
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Cerebral atrophy, Truncal ataxia OMIM:611726
Machado-Joseph Disease
Dilated fourth ventricle, Impaired vibratory sensation, Cerebellar atrophy, Dystonia, Ataxia, Par... OMIM:109150
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Ataxia, Simplified gyral pattern OMIM:613402
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Gliosis, Dystonia OMIM:300857
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Ataxia, Inability to walk, Cerebellar gliosis, Partial agenesis of... ORPHA:79243
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Impaired distal proprioception, Cerebra... OMIM:607250
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Increased... OMIM:617916
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hepatomegaly, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Glios... OMIM:604377
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Cerebellar atrophy, Brain atrophy, Spastic tetraparesis OMIM:618741
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ... OMIM:618088
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia OMIM:614706
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria... OMIM:618387
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema... OMIM:613490
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly OMIM:611808
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Distal sensory impairment, Abnormality of extrapyramidal motor function, Myoclo... OMIM:604218
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Clumsiness OMIM:610003
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Small for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, M... OMIM:312170
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rig... ORPHA:98759
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Unste... ORPHA:79263
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Respiratory failure, Recurre... OMIM:619773
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly, Ataxia, Respiratory insufficiency, Spasticity, Cerebral atrophy, Myoclonus, Recurre... OMIM:612015
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... OMIM:616022
Pontocerebellar Hypoplasia, Type 2D
Appendicular spasticity, Cerebellar atrophy, Clonus, Chorea, Spastic tetraplegia, Cerebral atroph... OMIM:613811
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Impaired vi... OMIM:607565
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Gliosis, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle we... ORPHA:2590
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypergonadotropic hyp... ORPHA:251347
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Patent ductus arteriosus, Cerebral atr... OMIM:614857
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... OMIM:610357
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Pancytopenia, Ataxia, Thrombocytopenia, Babinski sign, Impaired vibration sen... OMIM:159550
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor,... OMIM:208920
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy, Failure to thrive OMIM:615596
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Premature ovarian insufficiency, Po... OMIM:300623
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Gliosis, Ventricu... OMIM:612936
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... ORPHA:512260
Spinocerebellar Ataxia 42
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly, Dystonia, Hemiplegia/hemiparesis, Chorea, Anemia, Choreoathet... ORPHA:289916
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Diffi... ORPHA:330050
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Rigidity, Chorea, Cerebral atrophy, Cogwheel rigidity, Choreoathetosis, Hyper... OMIM:616981
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,... OMIM:618090
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebral atrophy, Recurrent upper respiratory tract infections, Abnormal pyramidal sign, ... ORPHA:352596
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosi... OMIM:612126
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
X-Linked Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive... ORPHA:1175
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... OMIM:605259
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Postural tremor, Chorea, Atrophy/Degeneration affecting the brainstem, Slurre... ORPHA:98755
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, Lateral ventricle dilatation, Gait disturbance,... OMIM:221770
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Cerebellar atrophy, Slurred speech, Gait ataxia OMIM:619323
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Dysm... OMIM:617954
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, Lethargy OMIM:618224
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Somatic sensory dysfunction, Gait ataxia, Hepatosplenomegaly, Progressive ... ORPHA:466794
Leigh Syndrome
Ataxia, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Gliosis, Dystoni... OMIM:256000
Tay-Sachs Disease
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Aspiration pneumonia, Progressive spasticity, L... ORPHA:845
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased serum pyruvate, Ataxia, Myoclonus, Brain atrophy, Lethargy, Spasticity OMIM:618225
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy OMIM:613909
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Torticollis, Ataxia, Elevated circulating creatine kinase concentration... OMIM:619054
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Limb ataxia, Dysmetria, Gait ... OMIM:117360
Spastic Ataxia 9, Autosomal Recessive
Premature ovarian insufficiency, Ataxia, Hoffmann sign, Abnormal pyramidal sign, Babinski sign, D... OMIM:618438
Myelolymphatic Insufficiency
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... OMIM:310350
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cer... OMIM:607346
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Dyspnea, Chorea, Choreoathetosis, Hyperkinetic move... ORPHA:98810
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... OMIM:617435
Spinocerebellar Ataxia Type 32
Male infertility, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Testicular atrophy ORPHA:276183
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Ataxia, Babinski sign, Brain atrophy, Dystonia, Lethargy, Failure to thrive OMIM:618226
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration OMIM:610951
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Babinski sign, Spastic tetraple... OMIM:618404
Autosomal Recessive Spastic Paraplegia Type 74
Cerebellar atrophy, Babinski sign, Difficulty walking, Progressive spastic paraplegia ORPHA:468661
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Ventriculomegaly, Diffuse cerebral atrophy, Atrophy/Degeneration affecting th... OMIM:614946
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocytosis, Reduced delayed hypersensit... OMIM:607624
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia, Lethargy, Failure to thrive OMIM:250620
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff... OMIM:612319
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... OMIM:128100
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Sandhoff Disease
Splenomegaly, Hepatomegaly, Ataxia, Recurrent respiratory infections ORPHA:796
Leukodystrophy, Hypomyelinating, 14
Cerebellar atrophy, Spasticity, Cerebral atrophy, Dystonia OMIM:617899
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... ORPHA:423275
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,... OMIM:615491
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Dystonia, Splenomegaly, Anemia, Choreoathetosis, Neutropenia,... ORPHA:79312
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Progressive cerebellar ataxia, Spastic tetraparesis, Dystonia ORPHA:67046
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive, Gait disturbance ORPHA:79283
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Hypergonadotropic hypogonadism, Ataxia, Involuntary movements, Babinski sign,... OMIM:271245
Cach Syndrome
Cerebellar atrophy, Premature ovarian insufficiency, Atrophy/Degeneration affecting the brainstem... ORPHA:135
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Gait ataxia, Limb ataxia, Depression, Gait dis... ORPHA:98764
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase... OMIM:615703
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Waddling gait, Cerebellar atrophy, Babinski sign, Cerebral atrophy, Spasticity OMIM:619090
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Rigidity, Tremor, Cerebral atrophy, Bradykinesia, Iro... ORPHA:329284
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Increased cerebral lipofuscin, Anemia, Myoclonus, Hypo... OMIM:610539
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Elevated circulating alpha-fetoprotein ... OMIM:616267
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia OMIM:615705
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Cryptorchidism, Hyperkineti... OMIM:300957
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Inability to walk, Spastic paraplegia, Spastic tetraplegia, Spasticity, Ven... OMIM:617977
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... OMIM:616204
Hemimegalencephaly
Abnormal neuron morphology, Hemiparesis, Gliosis, Myoclonus, Ventriculomegaly ORPHA:99802
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hypoplasia of the pons, Hand tremor, Respiratory insufficiency, Limb ataxia, Hypoplasia o... OMIM:607596
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Cerebral atrophy, Hypertonia, Cerebellar hemisphere hypoplasia, Gliosis, Spas... OMIM:615095
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Crackles, Tachypnea, Choreoathetosis, Cough, Oxygen desaturation on exertio... OMIM:610978
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... OMIM:600116
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Apathy, Shuff... ORPHA:306692
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic mo... OMIM:619738
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Gait ataxia, Spinocerebellar atrophy, ... OMIM:215470
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Spastic tetraplegia, My... OMIM:619971
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Difficulty walking, Distal sensory impairment, Paralysis OMIM:613710
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Recurrent viral infections, Abnormal CD4:CD8 ratio, Recurrent candida infection... ORPHA:572
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Cerebellar hypoplasia, Myoclonus, Hypoplasia of the pons OMIM:619303
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Rigidity, Hypoplasia of the pons, Unste... ORPHA:98760
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... OMIM:619028
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Neuroectodermal Melanolysosomal Disease
Recurrent respiratory infections, Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hyperto... ORPHA:33445
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Neonatal asphyxia, Hemiparesis, Bradykinesia, Lateral ventricle dilatation,... ORPHA:306669
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Hepatomegaly, Ventriculomegaly, Ataxia, Postural tremor, Splenomegaly, Micron... OMIM:301072
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hypertonia, Dystonia, Lethargy, Failure to thrive ORPHA:26792
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Cryptorchidism, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Opi... OMIM:619847
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concen... OMIM:619405
Perrault Syndrome 1
Cerebellar atrophy, Ataxia, Spastic diplegia, Primary amenorrhea, Gait ataxia, Gonadal dysgenesis... OMIM:233400
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Mitochondrial Complex I Deficiency, Nuclear Type 6
Ataxia, Abnormal pyramidal sign, Brain atrophy, Lethargy, Failure to thrive OMIM:618228
Muscular Hypertonia, Lethal
Respiratory distress, Hypertonia, Pneumonia OMIM:254120
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Hepatomegaly, Caudate atrophy, Hypertriglyceridemia, Ataxia, Poor motor coordinati... ORPHA:363400
Folinic Acid-Responsive Seizures
Respiratory distress, Cerebellar atrophy, Broad-based gait, Apnea, Ataxia, Spastic tetraparesis, ... ORPHA:79097
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Tremor, Dyspnea,... ORPHA:90117
Myopathy And Diabetes Mellitus
Respiratory distress, Impaired vibratory sensation, Inability to walk, Babinski sign, Progressive... ORPHA:2596
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Involuntary movements, Tongue fasciculations, Respiratory insufficiency ORPHA:238329
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... OMIM:213600
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:183090
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... OMIM:617633
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B... ORPHA:458803
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Cerebral atrophy, Tip-toe gait, Abnorma... ORPHA:496689
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Incoordination, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Abnormalit... ORPHA:309162
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:352403
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent f... OMIM:301020
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... ORPHA:208513
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Early Myoclonic Encephalopathy
Recurrent respiratory infections, Myoclonus, Lethargy ORPHA:1935
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign OMIM:617770
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Incoordination, Ataxia, Dysme... OMIM:600224
Methylmalonic Acidemia With Homocystinuria
Lethargy, Failure to thrive, Gait disturbance ORPHA:26
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... OMIM:256600
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... ORPHA:1170
Spastic Paraparesis And Deafness
Tremor, Hypogonadism, Spastic paraparesis OMIM:312910
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykine... ORPHA:314632
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Hepatic steatosis, Gliosis OMIM:615119
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of ambulation, Thr... OMIM:615010
Huntington Disease-Like 2
Rigidity, Chorea, Depression, Bradykinesia, Weight loss, Apathy, Dystonia, Inertia, Cerebral cort... OMIM:606438
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebellar atrophy, Broad-based gait, Ataxia, Elevated circulating creatine kinase concentration,... OMIM:616479
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Tremor, Babinski sign... OMIM:607694
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Ataxia, Spastic paraplegia, Hyperammonemia, Tetraplegia, Hypogonadism, Dyston... ORPHA:254913
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Abnormal cerebellum m... ORPHA:137898
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Cryptorchidism, Chorea, Inability to walk, Cerebral atrophy, Gait ataxia, Dys... OMIM:618917
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Spastic Paraplegia 7, Autosomal Recessive
Spastic ataxia, Lower limb spasticity, Waddling gait, Cerebellar atrophy, Degeneration of the lat... OMIM:607259
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Whim Syndrome 1
Recurrent upper respiratory tract infections, Abnormal morphology of female internal genitalia, D... OMIM:193670
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Rigidity, Tremor, Bradykinesia, Falls, Dystonia, Parkinsonism with favorabl... ORPHA:240085
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Gait disturbance, Olig... ORPHA:412057
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Limb dystonia, Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Limb at... OMIM:617560
Purine Nucleoside Phosphorylase Deficiency
Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Tremor, Hypouricemia... OMIM:613179
Immunodeficiency 51
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... OMIM:613953
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... ORPHA:70592
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Splenomegaly, Azoosp... OMIM:602390
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s... ORPHA:93952
Hereditary Methemoglobinemia
Cerebellar atrophy, Small for gestational age, Spastic tetraplegia, Temporal cortical atrophy, At... ORPHA:621
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Ba... OMIM:609270
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... OMIM:617810
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Pulmonary fibrosis, Glio... ORPHA:457240
Hypermanganesemia With Dystonia 2
Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst... OMIM:617013
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxi... OMIM:603516
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Respiratory failure,... ORPHA:280210
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Cerebral atrophy,... ORPHA:254886
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysmetria, Progressive gait at... ORPHA:289494
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spastic Paraplegia 85, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Torticollis, Cerebellar atrophy, Impaired te... OMIM:619686
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr... OMIM:210000
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Oculogyric crisis, Inability to walk, Chorea, Cerebral atrophy, Hyperkinetic ... OMIM:614254
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Immunodeficiency 104
Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary... ORPHA:2414
Spastic Paraplegia 75, Autosomal Recessive
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Impaired dis... OMIM:616680
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil... OMIM:607483
Spinocerebellar Ataxia Type 10
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Babinski sign, Unsteady gait, Dysmetri... ORPHA:98761
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Hemiparesis, Lethargy, Herpes simplex encephalitis, Meningitis OMIM:617900
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, Neuronal loss in c... OMIM:614498
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Appendicular spasticity, Recurrent respiratory infections, Cerebellar atrophy, Inability to walk OMIM:618324
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... ORPHA:139485
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Elevated circulating creatine kinase concentration, Elevated... ORPHA:64753
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Spasticity, Ataxia, Spastic tetraplegia OMIM:617207
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Ataxia, Impaired T cell function, Tremor, Splenomegaly, Recurrent candida infections, Decreased s... OMIM:201100
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Atrophy/D... ORPHA:228360
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Involuntary movements, Chorea, Atrophy/Degeneration affecting the brainstem, ... OMIM:617493
Spinocerebellar Ataxia 28
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a... OMIM:610246
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Ataxia, Athetosis, Decreased body weight, Failure to thrive, Cerebral cortica... OMIM:614559
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Pachygyria, Gray matter heterotopia, Tip-toe gait, Difficulty walking, Freque... ORPHA:370980
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Mediastinal lymphadenopathy, Atelectasis, ... ORPHA:2302
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Oromandibular dystonia, Depressi... ORPHA:216873
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Recurrent respiratory infections, Ataxia, Babinski sign, Dysmetria, Dysdiadoc... OMIM:618356
Developmental And Epileptic Encephalopathy 44
Cerebellar atrophy, Cerebral atrophy, Athetosis, Dystonia, Spasticity, Failure to thrive OMIM:617132
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Hyperphenylalaninemia, Letha... OMIM:233910
Stxbp1-Related Encephalopathy
Ataxia, Tremor, Inability to walk, Dysplastic corpus callosum, Spastic tetraplegia, Dystonia, Spa... ORPHA:599373
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Recurrent respiratory infections, Cerebral atrophy, Dysmetria, Gait ataxia ORPHA:320385
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Clumsiness,... OMIM:277460
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Tremor, Splenomegaly, ... OMIM:608799
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Neonatal sepsis, Cerebellar atrophy, Inability to walk, Hyperammonemia, Recurrent infections, Abn... OMIM:614739
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Axonal degeneration, Dysm... OMIM:302800
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, Cerebral atrop... ORPHA:527497
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Co... OMIM:607454
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Cerebellar atrophy, Overweight, Babinski sign, Spastic dysarthria, Difficulty walk... ORPHA:280763
Glycine Encephalopathy 1
Lethargy, Hyperglycinemia, Myoclonus OMIM:605899
Severe Canavan Disease
Inability to walk, Babinski sign, Decerebrate rigidity, Lethargy, Spasticity ORPHA:314911
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Lethargy, Herpes simplex encephalitis, Meningitis OMIM:613002
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Abnormal pyramidal sign, Cerebral atrophy, Tetraplegia, Dystonia, Failure to ... OMIM:300475
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait a... OMIM:618321
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Unsteady gait, Primary amenorrhea, Secondary amenorrhea, Gait di... OMIM:603896
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Impaired Ig class switch recombination, Recurrent bacterial inf... OMIM:605258
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ... ORPHA:284289
Cog7-Cdg
Cerebellar atrophy, Small for gestational age, Elevated circulating creatine kinase concentration... ORPHA:79333
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Ab... ORPHA:210136
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... OMIM:211530
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia OMIM:620270
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Mepan Syndrome
Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Chorea, Cerebral atrophy, Gai... ORPHA:508093
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Recurrent bacterial infections, Increased c... OMIM:608106
Spastic Paraplegia Type 7
Cerebellar atrophy, Somatic sensory dysfunction, Babinski sign, Abnormal pyramidal sign, Impaired... ORPHA:99013
Joubert Syndrome 33
Oculomotor apraxia, Splenomegaly, Apnea, Ataxia OMIM:617767
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Head titubation, Vestibular areflexia, Spastic tetraplegia, Hypochromic... ORPHA:3240
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Hepatomegaly, Corpus callosum atrophy, Splenomegaly, Vacuolated lymphocytes, ... OMIM:248500
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Broad-based gait, Babinski sign, Abnormal pyramidal sign, Dysmetria, ... ORPHA:363429
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Ventriculomegaly, Thrombocytopenia ORPHA:1980
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
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
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Sensory ataxia, ... ORPHA:445062
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Recurrent upper respiratory tract infections, Babinski sign... ORPHA:225147
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... OMIM:613502
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depre... OMIM:137440
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... OMIM:133190
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Recurrent pneumonia, Neurodegenerat... OMIM:214150
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy OMIM:618501
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacter... ORPHA:98813
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Dyspnea, Bronchiectasis, A... OMIM:612387
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus OMIM:612016
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Dystonia, Elevated circulating creatine kinase concentration, Parkinsonism, I... OMIM:258450
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S... OMIM:614487
Citrullinemia Type I
Torticollis, Ataxia, Slurred speech, Hyperammonemia, Ankle clonus, Elevated plasma citrulline, Le... ORPHA:247525
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc... ORPHA:1302
Leukodystrophy, Hypomyelinating, 15
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Athetosis, Dystonia, Loss ... OMIM:617951
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Ataxia, Tremor, Elevated circulating phytanic acid concentration,... OMIM:614307
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Multiple Symmetric Lipomatosis
Hepatomegaly, Gait disturbance, Paresthesia ORPHA:2398
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Hypoplasia of the brainstem, Myoclonus, Dystonia, Failure to thrive OMIM:619651
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory fai... OMIM:614299
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Dec... OMIM:619126
Pontocerebellar Hypoplasia, Type 3
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Hypoplasia of the brainstem, Cerebe... OMIM:608027
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Spastic Ataxia 3, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,... OMIM:611390
Peho-Like Syndrome
Cerebellar atrophy, Pachygyria, Lissencephaly, Myoclonus, Polymicrogyria OMIM:617507
Congenital Disorder Of Glycosylation, Type Iin
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Recurrent infections, Cerebellar vermis ... OMIM:616721
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentrati... OMIM:614867
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Hypercapnia, Respiratory insufficiency, Ankle clonus, Apneic episodes in infancy, Falls, G... OMIM:618222
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Pontocerebellar Hypoplasia, Type 2A
Hypoplasia of the pons, Chorea, Opisthotonus, Gliosis, Cerebellar hypoplasia, Extrapyramidal dysk... OMIM:277470
Cog4-Cdg
Neonatal sepsis, Ataxia, Failure to thrive in infancy, Recurrent upper respiratory tract infectio... ORPHA:263501
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmon... OMIM:613101
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Ataxia, Splenomega... OMIM:613489
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis, Generalized dystonia, Involuntary movements, Upper limb postur... ORPHA:98805
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Lethargy, Ataxia, Dystonia OMIM:246900
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysme... OMIM:614381
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Recurrent bacterial in... OMIM:606843
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... OMIM:312080
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Patent ductus arteriosu... OMIM:620327
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus OMIM:159900
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormali... ORPHA:254864
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Cerebellar atrophy, Ataxia OMIM:618879
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Hyp... OMIM:203700
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Corpus callosum atrophy, Abnormal cerebellum morphology, Babinski sign, Pseudobulbar para... OMIM:169500
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly, Clumsiness ORPHA:158
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failur... ORPHA:363717
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... OMIM:168601
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonu... ORPHA:313772
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency ORPHA:2432
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Interstitial Lung Disease 2
Dyspnea, Elevated bronchoalveolar lavage fluid neutrophil proportion, Alveolar cell carcinoma, Pu... OMIM:178500
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Failure to thrive, Incoordination, Ataxia, Clonus, Tetraplegia, Cerebral atro... OMIM:616034
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... OMIM:232700
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... OMIM:604391
Sialidosis Type 2
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Dyspnea, Ascites ORPHA:87876
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Diaphragmatic paralysis, Paradoxical respiration, Axonal degeneration, Recu... OMIM:620011
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natura... ORPHA:167
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Cerebellar atrophy, Dystonia, Ataxia, Tremor, Recurrent pneumonia, Cerebral... OMIM:616271
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Ataxia, Paraparesis, Thrombocytopenia, Hyperammonemia, Choreoathetosis, Leukop... ORPHA:27
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Failure to thrive, Spastic tetraplegia, Dystonia OMIM:618237
Free Sialic Acid Storage Disease
Hepatomegaly, Recurrent respiratory infections, Ataxia, Splenomegaly, Abnormal pyramidal sign, At... ORPHA:834
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebellar atrophy, Chorea, Spastic tetraplegia, Athetosis, Cerebellar hypoplasia, Dystonia, Cere... OMIM:619922
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... OMIM:618278
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Gliosis, Dystonia, Neuronal ... ORPHA:683
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentr... OMIM:248800
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Inability to walk, R... OMIM:617193
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Impotence, Hypogon... ORPHA:79230
Propionic Acidemia
Pancytopenia, Thrombocytopenia, Neutropenia, Hyperammonemia, Cerebral atrophy, Hyperglycinemia, D... OMIM:606054
Malaria
Anemia, Respiratory distress, Thrombocytopenia, Gait imbalance ORPHA:673
Dihydropyrimidinase Deficiency
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Abno... OMIM:222748
Pyruvate Dehydrogenase E3 Deficiency
Elevated circulating branched chain amino acid concentration, Ataxia, Hyperammonemia, Hyperisoleu... ORPHA:2394
Gaba-Transaminase Deficiency
Lethargy, Cerebellar hypoplasia OMIM:613163
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocyt... OMIM:603552
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure, Ataxia, Cerebral atrophy OMIM:618637
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Diaphragmatic paralysis, Respiratory insufficiency, Restrictive ventilatory... OMIM:614399
Peroxisome Biogenesis Disorder 6B
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Impaired distal vibration sensation, El... OMIM:614871
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia, Hyperglutaminemia OMIM:618412
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Dystonia, Respirato... OMIM:615512
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia, Spastic tetraplegia, Tetraplegia, Hypertonia, Gliosis OMIM:608033
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Dyspnea, Bronchie... OMIM:620233
Spinocerebellar Ataxia 6
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... OMIM:183086
Lissencephaly, X-Linked, 2
Gliosis, Spasticity, Agenesis of corpus callosum, Decreased testicular size, Ventriculomegaly OMIM:300215
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Rigidity, Tremor, Cerebral atrophy, Bradyki... OMIM:300894
Mitochondrial Dna Depletion Syndrome 17
Cerebellar atrophy, Spastic tetraparesis, Chorea, Low plasma citrulline, Hyperammonemia, Cerebral... OMIM:618567
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Hippocampal sclerosis, Myoclonus OMIM:615400
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Ataxia, Unsteady gait, Decreased circulating total IgM, Decreased circulating... OMIM:300861
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Cerebellar atrophy, Cerebral atrophy, Progressive cerebellar ataxia, ... ORPHA:263516
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor ORPHA:98771
Developmental And Epileptic Encephalopathy 41
Inability to walk, Babinski sign, Cerebral atrophy, Tetraparesis, Lethargy, Spasticity OMIM:617105
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Simplified gyral pattern... OMIM:616171
Fatty Acyl-Coa Reductase 1 Deficiency
Cerebellar atrophy, Inability to walk, Dandy-Walker malformation, Spastic tetraparesis ORPHA:438178
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor func... OMIM:610743
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Cerebral atrophy, Paralysis OMIM:616286
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
Adult Krabbe Disease
Somatic sensory dysfunction, Broad-based gait, Ataxia, Abnormal medulla oblongata morphology, Abn... ORPHA:206448
Central Neurocytoma
Pain insensitivity, Ataxia, Babinski sign, Depression, Paresthesia, Lethargy ORPHA:73256
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Frontotemporal cerebral atrophy, Gait disturbance, Myo... ORPHA:391417
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Lower limb hypertonia, H... ORPHA:2169
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Tremor, Inability to walk, Restrictive ventilatory defect, Gait dist... ORPHA:101077
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Follicular hyperp... OMIM:614470
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Ataxia, Gait disturbance, Decreased circulating antibody level ORPHA:85317
Atypical Rett Syndrome
Dystonia, Sudden episodic apnea, Episodic tachypnea, Involuntary movements, Impaired pain sensati... ORPHA:3095
Scholte Syndrome
Cerebellar atrophy, Micropenis, Abnormal pyramidal sign, Decreased testicular size OMIM:300977
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... OMIM:612692
Typhoid
Hepatomegaly, Ataxia, Epistaxis, Tremor, Splenomegaly, Abnormal pulmonary interstitial morphology... ORPHA:99745
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Oromotor apraxia, Abnormal brainstem morphology, Peri... ORPHA:300573
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia... OMIM:243700
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Developmental And Epileptic Encephalopathy 98
Cerebellar atrophy, Perisylvian polymicrogyria, Cerebral atrophy OMIM:619605
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Di... OMIM:616505
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... OMIM:612438
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Sideroblastic anemia, Respiratory distress, Hepatomegaly, Respirat... OMIM:613561
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Pneumothorax, T... ORPHA:36238
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... OMIM:607594
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... ORPHA:79126
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Clonus, Tremor, Splenomegaly, Leukocytosis, ... OMIM:615673
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Spastic paraparesis, Thrombocytopenia OMIM:231000
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Depr... ORPHA:282166
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Elevate... OMIM:614298
Christianson Syndrome
Cerebellar atrophy, Cachexia, Truncal ataxia, Gait ataxia, Dystonia, Aplasia/Hypoplasia of the ce... ORPHA:85278
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Cerebral atrophy, Tongue fasciculations, Ce... OMIM:618170
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Rigidity, Inability to walk, Athetosis, Gait disturbance, Myoclonus, Loss of ... OMIM:618241
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Fasciculations, Difficulty wal... OMIM:610717
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Ataxia, Inability to walk, Unsteady gait, Spastic tetraplegia, Cerebral atrop... ORPHA:1947
Pontocerebellar Hypoplasia, Type 2B
Cerebellar atrophy, Cerebellar vermis hypoplasia, Clonus, Chorea, Babinski sign, Simplified gyral... OMIM:612389
Niemann-Pick Disease, Type A
Hepatomegaly, Recurrent respiratory infections, Elevated circulating aspartate aminotransferase c... OMIM:257200
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Episodic Ataxia, Type 6
Cerebellar atrophy, Slurred speech, Hemiparesis, Cerebellar hypoplasia, Truncal ataxia, Episodic ... OMIM:612656
Episodic Ataxia Type 1
Respiratory distress, Cerebellar atrophy, Poor coordination, Clumsiness, Choreoathetosis, Hyperto... ORPHA:37612
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu... OMIM:240500
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Impaired vibratory sensation, Clumsiness, Acute lymphoblastic leukemia, Recurrent bacterial infec... OMIM:610738
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Cerebellar atrophy, Inability to walk, Ataxia, Gait ataxia OMIM:617915
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Lethargy, Increased body weight ORPHA:276608
Stt3B-Cdg
Cerebellar atrophy, Small scrotum, Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia ORPHA:370924
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Corpus callosum atrophy, Abnormal pyramidal sign, Tetraplegia, Brain atrophy,... ORPHA:369939
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Morgagni-Stewart-Morel Syndrome
Obesity, Depression, Hyperuricemia, Brain atrophy, Hypercholesterolemia, Cerebral cortical atroph... ORPHA:77296
Spinocerebellar Ataxia 4
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... OMIM:600223
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... OMIM:618060
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Filippi Syndrome
Cerebellar atrophy, Dystonia, Cryptorchidism, Decreased body weight, Ambiguous genitalia OMIM:272440
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam c... OMIM:257220
Lead Poisoning
Decreased HDL cholesterol concentration, Somatic sensory dysfunction, Decreased female libido, Sm... ORPHA:330015
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... ORPHA:411703
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Delayed mena... ORPHA:247585
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Spastic Paraplegia 20, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Spastic... OMIM:275900
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Small scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Patent ... OMIM:607143
Nipah Virus Disease
Respiratory distress, Tremor, Recurrent pharyngitis, Myoclonus, Cough ORPHA:99825
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... OMIM:613280
Congenital Disorder Of Glycosylation, Type Ix
Cerebellar atrophy, Small scrotum, Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia OMIM:615597
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Recurrent respiratory infections, Respiratory insufficiency due to muscle weakness, Tremor, Degen... OMIM:159950
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Clumsiness, Br... ORPHA:98768
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Patent ductus arteriosus, Small for gestational age OMIM:610498
Tularemia
Respiratory distress, Brain abscess, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Leuko... ORPHA:3392
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Elevated circulating alph... OMIM:606002
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Ataxia, Jaundice, Hepatosplenomegaly ORPHA:33574
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Athetosis, Gait disturbance, Dystonia OMIM:618141
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Lymphadenopathy, N... ORPHA:142
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Cerebral atrophy, G... OMIM:618877
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Cerebellar atrophy, Inability to walk, Spasticity OMIM:617086
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Lethargy, Failure to thrive, Hyperammonemia ORPHA:28
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam ce... OMIM:607625
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Hypersensitivity pneumonitis, Atelectasis, Leukocytosis, Hypereosinophilia, Nonproducti... ORPHA:2902
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Respiratory distress OMIM:615993
Leigh Syndrome
Chorea, Choreoathetosis, Gliosis, Neutropenia, Agenesis of corpus callosum, Ataxia, Athetosis, Ab... ORPHA:506
Spinocerebellar Ataxia 36
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ... OMIM:614153
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Ab... OMIM:620282
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Bone marrow hypoc... ORPHA:391
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac... ORPHA:169079
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Cerebellar hypoplasia, Gait imbalance, Gait ataxia ORPHA:488635
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc... ORPHA:529665
Cln3 Disease
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Vacuolated lymphocytes, Depression,... ORPHA:228346
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigidity, Cerebral at... OMIM:610127
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Failure to thrive, Abnormal T cell count, Abnormal B cell count, Autoimmune hemolyti... ORPHA:331206
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Pontocerebellar Hypoplasia, Type 1D
Cerebellar atrophy, Recurrent respiratory infections, Cerebral atrophy, Tongue fasciculations, Fa... OMIM:618065
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Spastic tetraparesis, Cerebellar vermis atrophy, Cerebral atrophy, Spasticity, Dandy-Walker malfo... OMIM:616154
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebral atrophy, Involuntary movements, Upper limb postural tremor, Tetraparesis, Diffus... ORPHA:477774
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cer... OMIM:617710
Prune1-Related Neurological Syndrome
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Spastic tetraparesis, Clo... ORPHA:544469
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, H... ORPHA:83471
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... OMIM:614868
Autosomal Recessive Spastic Paraplegia Type 78
Cerebellar atrophy, Babinski sign, Abnormal pyramidal sign, Progressive cerebellar ataxia, Progre... ORPHA:513436
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Chiari type I malformation, Dystonia OMIM:617836
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Babinski sign, D... ORPHA:88644
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonemia, Paraplegia, Hyperalaninemia, Fai... ORPHA:927
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Chorea, Hyperammonemia, Opisthotonus, Cerebral atrophy, Tetraparesis, Myoclon... OMIM:616672
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Bradyk... OMIM:606159
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hypomethioninemia, Lower limb spasticity, Ataxia, Atrophy of the spinal cord, Hyperhomocystinemia... ORPHA:395
Machado-Joseph Disease Type 1
Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat... ORPHA:276241
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Leukopenia, Neurodegeneration, Lymp... OMIM:620210
N-Acetylglutamate Synthase Deficiency
Lethargy, Failure to thrive, Hyperglutamatemia, Hyperammonemia OMIM:237310
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dilated fourth ventricle, Substantia ... ORPHA:276244
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Generalized dystonia, Bipolar affective disorder, Atrophy of the spinal cord,... ORPHA:329308
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Hypertriglyceridem... OMIM:300635
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Cerebellar atrophy, Broad-based gait, Ataxia, Elevated circulating creatine kinase concentration,... OMIM:618098
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Spastic ataxia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystine... OMIM:277410
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent oppo... ORPHA:275
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Cerebellar atrophy... ORPHA:404454
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Pancytopenia, Incoordination, Small for gestational age, Megaloblastic an... OMIM:277380
Alpha-Mannosidosis, Adult Form
Cerebellar atrophy, Pancytopenia, Ataxia, Depression, Clumsiness, Recurrent infections, Subcortic... ORPHA:309288
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysesthesia, Abnormal brainstem morphology, Dysmetria, Depression... ORPHA:93256
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... OMIM:618598
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Secondary amenorrhea... ORPHA:3085
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Precocious puberty, Cryptorchidism, Overweight, ... OMIM:616222
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Exaggerated startle response, Clonus, Myoclonus, Spasticity, Cerebral corti... OMIM:618201
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... OMIM:619164
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Stt3A-Cdg
Cerebellar atrophy, Small scrotum, Cryptorchidism, Micropenis, Failure to thrive ORPHA:370921
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Ataxia, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Failure t... OMIM:237300
Episodic Ataxia Type 6
Hemiplegia, Slurred speech, Ataxia, Cerebellar atrophy ORPHA:209967
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Depr... OMIM:193003
Central Diabetes Insipidus
Hyponatremia, Weight loss, Depression, Lethargy, Failure to thrive ORPHA:178029
Mirage Syndrome
Hyponatremia, Lymphopenia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hyp... OMIM:617053
Brain-Lung-Thyroid Syndrome
Respiratory distress, Chorea, Choreoathetosis, Agenesis of corpus callosum, Intention tremor, Neo... ORPHA:209905
Glutathionuria
Tremor, Asthma, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor OMIM:231950
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Hyperkinetic movements, Ataxia, Elevated circulating gamma-aminobutyric acid ... OMIM:271980
Spinocerebellar Ataxia 25
Cerebellar atrophy, Ataxia, Impaired pain sensation, Babinski sign, Abolished vibration sense, Oc... OMIM:608703
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice, Respiratory paralysis OMIM:121300
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Poor fine motor coordination, Recurrent otitis media, Hypercholester... ORPHA:254531
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Mevalonic Aciduria
Splenomegaly, Ataxia, Cerebral cortical atrophy ORPHA:29
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Cerebellar atrophy, Corpus callosum atrophy, Tetraplegia, Opisthotonus, Cer... OMIM:619272
Adducted Thumbs Syndrome
Myelin-dependent gliosis, Respiratory insufficiency OMIM:201550
Leukodystrophy, Hypomyelinating, 20
Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Dystonia OMIM:619071
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Familial Acute Necrotizing Encephalopathy
Rigidity, Spastic tetraplegia, Hypertonia, Gait disturbance, Gliosis, Spasticity, Abnormal patter... ORPHA:88619
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Sim1-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Small scrotum, Hypogonadotropic hypogonadism, External genital ... ORPHA:398079
Ataxia-Telangiectasia
Recurrent respiratory infections, Failure to thrive, Lymphopenia, Ataxia, Tremor, Polycystic ovar... ORPHA:100
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Portal hypertension, Respirato... ORPHA:367
Ogden Syndrome
Torticollis, Cryptorchidism, Cerebral atrophy, Hypertonia, Shuffling gait, Lethargy ORPHA:276432
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Perisylvian polymicrogyria, Eyelid myoclonus, Frontotemporal cerebral atrophy... OMIM:619606
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granu... OMIM:601104
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Recurrent infectio... OMIM:619780
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Cerebral atrophy, Myoclonus, Decreased body weight, Failure to thrive OMIM:619060
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Leukodystrophy, Hypomyelinating, 17
Cerebellar atrophy, Inability to walk, Cerebral atrophy OMIM:618006
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia OMIM:128235
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar verm... OMIM:270550
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hypertonia, ... ORPHA:79477
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Crigler-Najjar Syndrome Type 1
Tremor, Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice ORPHA:79234
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Abnormal posturing, Dystonia OMIM:304700
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Cryptorchidism, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cereb... ORPHA:1192
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cerebellar vermis hypoplasi... OMIM:619383
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Neurodegeneration, Gliosis, Spasticity, Neuronal loss in central nervous syst... OMIM:616239
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Tremor, Cryptorchidism, Simplified gyral pattern, Gait ataxia, Abdominal obesity, Hy... OMIM:300354
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula... OMIM:618048
Developmental And Epileptic Encephalopathy 5
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Atrophy/Degeneration affecting the bra... OMIM:613477
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:620010
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Dyspnea, Inability to walk, Card... ORPHA:26791
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Obesity OMIM:608320
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Spinocerebellar Ataxia 1
Impaired vibratory sensation, Dilated fourth ventricle, Impaired pain sensation, Chorea, Babinski... OMIM:164400
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis OMIM:172700
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Abnormal posturing, Opisthotonus, Weight loss, Tip-toe g... ORPHA:216866
Transcobalamin Ii Deficiency
Failure to thrive, Macrocytic anemia, Ataxia, Pancytopenia, Erythroid hypoplasia, Reticulocytopen... OMIM:275350
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen, Cerebellar atrophy, Agenesis of corpus callosum ORPHA:89844
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... OMIM:608957
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 23
Recurrent respiratory infections, Somatic sensory dysfunction, Hemolytic anemia, Ataxia, Abscess,... OMIM:615816
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Secondary amenorrhea OMIM:301033
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Bipolar affective disorder, Broad-based gait, Parkinsonism... ORPHA:3077
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Galloway-Mowat Syndrome 2, X-Linked
Cerebellar atrophy, Cerebral atrophy, Dysmetria, Spasticity, Polymicrogyria OMIM:301006
Farber Disease
Elevated hepatic transaminase, Respiratory distress, Intrahepatic cholestasis with episodic jaund... ORPHA:333
X-Linked Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa... ORPHA:53351
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Infertility, Recurrent sinusitis, Immotile sperm OMIM:618449
Immunodeficiency 27A
Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplen... OMIM:209950
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Ataxia, Respiratory failure, Loss of ambulation, Frequent falls, Ventriculo... OMIM:620166
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Gliosis, Pulmonary hypoplasia, Hepatic periportal n... OMIM:231680
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N... OMIM:214900
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Cryptorchidism, Patent ductus arteriosus, Cerebral atrophy OMIM:619797
Ataxia-Telangiectasia
Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circulating IgG l... OMIM:208900
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance, Ventriculomegaly OMIM:603472
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... OMIM:226990
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Nonproductive c... ORPHA:454836
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... OMIM:613470
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir... OMIM:616974
Spinocerebellar Ataxia, Autosomal Recessive 20
Cerebellar atrophy, Hepatomegaly, Ataxia, Splenomegaly, Inability to walk, Babinski sign, Cerebel... OMIM:616354
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadocho... ORPHA:254881
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Ataxia, Elevated circulating alpha-fetoprotein concentration, Dysmetria, Dist... OMIM:615217
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... OMIM:612020
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Distal sensory impairment, Spasticity, Inte... OMIM:612674
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia OMIM:614306
Congenital Disorder Of Glycosylation, Type Iih
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Failure to thrive... OMIM:611182
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Precocious puberty, Cryptorchidism, Obesity, Poor fine motor coordinat... ORPHA:96184
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... OMIM:617475
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Portal hypertension, Micronodul... ORPHA:309854
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Crackles, Cough, Mediastinal lymphadenopathy, Usual interstitial p... OMIM:614742
Griscelli Syndrome
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hydrocephalus, Hepatiti... ORPHA:381
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Cerebellar atrophy, Ataxia, Dysmetria OMIM:618384
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Ventriculomegaly, Apnea, Akinesia, Cardiomegaly, Thrombocytop... OMIM:608013
Autosomal Dominant Optic Atrophy, Classic Form
Cerebellar atrophy, Macrocytic anemia, Ataxia, Corpus callosum atrophy, Spastic paraplegia, Hemip... ORPHA:98673
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Recurrent viral i... ORPHA:911
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy... ORPHA:133
Parkinson Disease 14, Autosomal Recessive
Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel... OMIM:612953
Mevalonic Aciduria
Cerebellar atrophy, Normocytic hypoplastic anemia, Failure to thrive, Agenesis of cerebellar verm... OMIM:610377
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Spastic tetraparesis, Hyperglutaminemia, Hyperprolinemia, Abnormality of extr... OMIM:616299
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Elevated circulating creatine kinase concentration, Cachexia, Hyperammonemia, Decreased p... ORPHA:42
Joubert Syndrome 25
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia OMIM:616781
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Abn... ORPHA:247815
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... ORPHA:75234
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Res... OMIM:220110
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Cerebral atrophy OMIM:619690
Kaya-Barakat-Masson Syndrome
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Limb dystonia, Spasticity OMIM:619125
Susac Syndrome
Somatic sensory dysfunction, Gait ataxia, Apathy, Lethargy, Upper motor neuron dysfunction ORPHA:838
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Cerebral palsy, Ataxia, Splenomegaly, Dyspnea, Hemiplegia/hemiparesis, Lymphadenopa... ORPHA:36412
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Hypergonadotropic hypogonadism, Eleva... OMIM:607426
Joubert Syndrome 32
Ataxia, Large for gestational age, Abnormal cerebellum morphology, Oculomotor apraxia, Polymicrog... OMIM:617757
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Waddling gait, Dyspnea, Difficulty walking, Cough, Left ventricular hypertr... ORPHA:86812
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Abnormal mito... ORPHA:543470
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Periventricular heterotopia, Simplified gyral pattern, Microlissencephaly, Li... OMIM:616212
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Ataxia, Dysesthesia, Babinski sign, Unsteady gait, Limb ataxia, Gait ataxia, ... OMIM:619259
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngitis, Respiratory insuff... ORPHA:108
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure ORPHA:60
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Crack... ORPHA:99931
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Poor motor coordination, Parkinsonism, Cerebral atrophy, Clumsiness, Depressi... ORPHA:79264
Benign Samaritan Congenital Myopathy
Lethargy, Fasciculations ORPHA:324581
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... OMIM:278000
Holocarboxylase Synthetase Deficiency
Ataxia, Hyperammonemia, Weight loss, Lethargy, Thrombocytopenia ORPHA:79242
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebellar atrophy, Clonus, Spastic tetraparesis, Inability to walk, Cerebral cortical atrophy OMIM:617481
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Cardiomegaly, Thrombocytopenia, Ja... ORPHA:858
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi... ORPHA:2357
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad... ORPHA:91359
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Speech apraxia, Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign,... ORPHA:415
Microcephaly, Amish Type
Hepatomegaly, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Cerebellar h... OMIM:607196
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Failure to thrive, Premature ovarian insufficiency,... OMIM:212065
Perching Syndrome
Respiratory distress OMIM:617055
Congenital Disorder Of Glycosylation, Type Iii
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Truncal ataxia OMIM:613612
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Cerebellar vermis hypoplasia, Apnea, Ataxia, Portal ... ORPHA:1454
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Cere... OMIM:620306
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Slurred... OMIM:256550
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Large for gestational age, Decreased circulating free fatty acid level... ORPHA:324575
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Failure to thrive, Bipolar affective disorder, Ataxia, Elevat... ORPHA:254892
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... ORPHA:331235
Congenital Enterovirus Infection
Respiratory distress, Ventriculomegaly, Abnormal macrophage morphology, Fetal ascites, Thrombocyt... ORPHA:292
Cerebrotendinous Xanthomatosis
Abnormal lung morphology, Axonal degeneration, Abnormal pyramidal sign, Gliosis, Abnormal cerebel... ORPHA:909
Galactokinase Deficiency
Speech apraxia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestat... ORPHA:79237
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Failure to thrive, Dystonia, Abnormal circulating carnitine concentration, Ch... ORPHA:431361
Multiple Mitochondrial Dysfunctions Syndrome 1
Failure to thrive, Spastic tetraparesis, Opisthotonus, Elevated circulating 2-hydroxybutyric acid... OMIM:605711
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... OMIM:608184
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Bradykinesia, Choreo... OMIM:261640
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Cerebral atrophy, Eyelid myoc... OMIM:613839
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Respiratory distre... OMIM:615273
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Lateral ventricle dilatation, Gliosis, Apraxia, Neuronal loss in central nervous sy... OMIM:607485
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Recurrent u... OMIM:301082
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Gait ataxia OMIM:612075
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Fasciculations ORPHA:65684
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par... ORPHA:139480
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Respiratory distress, Microvesicular hepatic steatosis, Hepatocellular nec... OMIM:256810
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Cerebral atrophy... OMIM:610217
Hypoglossia With Situs Inversus
Asplenia, Upper airway obstruction, Respiratory distress, Polysplenia OMIM:612776
Intellectual Developmental Disorder, Autosomal Recessive 41
Splenomegaly, Hepatomegaly, Recurrent pneumonia, Ventriculomegaly OMIM:615637
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Short Stature-Micrognathia Syndrome
Cerebellar atrophy, Small scrotum, Ataxia, Cryptorchidism, Gait ataxia, Decreased body weight, Mi... OMIM:617164
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphade... OMIM:609981
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Generalized dystonia, Apnea, Cerebral atrophy, Spasticity OMIM:618235
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Ataxia, Inability to walk, Limb ataxia, Gait disturbance OMIM:617166
Warburg Micro Syndrome 4
Cerebellar atrophy, Small scrotum, Cryptorchidism, Inability to walk, Babinski sign, Perisylvian ... OMIM:615663
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Elevated hemoglobin A1c, Babinski sign, Cerebral atrophy, Sensory ataxia, Gai... OMIM:616192
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Unsteady gait, Cere... ORPHA:442835
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Corpus callosum atrophy, Abnormal pons morphology, Atrophy/Degeneration... ORPHA:77299
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Dystonia, Limb hypertonia OMIM:618247
Niemann-Pick Disease Type C
Fetal ascites, Bone-marrow foam cells, Tremor, Abnormal lung morphology, Chorea, Abnormal pyramid... ORPHA:646
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Cerebral atrophy, Hypertonia, Dystonia, Hyperalaninemia OMIM:614654
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Hypospadias, Small for gestational age, Conjugated hyperbilirubinemia, Crypto... OMIM:614866
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Distal sensory impairme... ORPHA:488650
Cyclic Vomiting Syndrome
Lethargy, Ataxia OMIM:500007
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating creatine kinase concentration, Hyperamylasemia, Hyperglycinemia, Hyperalanin... OMIM:619386
Hengel-Maroofian-Schols Syndrome
Cerebellar atrophy, Inability to walk, Tetraplegia, Cerebral atrophy, Gait imbalance, Dystonia, S... OMIM:619641
Mucolipidosis Iv
Cerebellar atrophy, Babinski sign, Spastic tetraplegia, Dystonia OMIM:252650
Pontocerebellar Hypoplasia, Type 1B
Cerebellar atrophy, Cerebral atrophy, Tongue fasciculations, Oculomotor apraxia, Spasticity, Cere... OMIM:614678
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Thrombocytopenia, Splenomeg... OMIM:617303
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Ataxia, Progressive spasticity, Ventriculomegaly ORPHA:251009
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Gliosis, Shuffling gait, Dystonia... ORPHA:411602
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, Clonus, Babinski sign, Progressive cerebellar ataxia, Substantia nigra hypoin... OMIM:618868
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... OMIM:608643
Immunodeficiency 21
Aplastic anemia, Recurrent viral infections, Neutropenia, Recurrent fungal infections, Recurrent ... OMIM:614172
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Aceruloplasminemia
Refractory anemia, Abnormal dentate nucleus morphology, Torticollis, Dystonia, Ataxia, Parkinsoni... ORPHA:48818
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Ventriculomegaly OMIM:619556
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Lethargy, Failure to thrive in infancy, Hyperprolinemia OMIM:619064
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentr... OMIM:615084
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Tremor, Hypogonadism, Myoclonus, Cerebral cortical atrophy ORPHA:97229
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Tremor, Decreased circulating antibody level, Hypocystinemia, Decreased serum ... OMIM:617744
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections, Ch... OMIM:613496
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia, Gait imbalance OMIM:618120
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Para... ORPHA:79124
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... OMIM:616005
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:615595
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Abnormal cerebellum... OMIM:618056
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Vici Syndrome
Recurrent respiratory infections, Failure to thrive, Cerebellar vermis hypoplasia, Lymphopenia, E... OMIM:242840
Hyperinsulinism Due To Ucp2 Deficiency
Decreased circulating free fatty acid level, Lethargy, Large for gestational age, Increased C-pep... ORPHA:276556
Harel-Yoon Syndrome
Cerebellar atrophy, Ataxia, Inability to walk, Dystonia, Spasticity OMIM:617183
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Recurrent pneum... OMIM:619644
Hyperlysinuria With Hyperammonemia
Lethargy, Hyperlysinemia, Hyperammonemia OMIM:238750
Combined Oxidative Phosphorylation Deficiency 39
Cerebellar atrophy, Recurrent respiratory infections, Involuntary movements, Babinski sign, Simpl... OMIM:618397
Developmental And Epileptic Encephalopathy 51
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Babinski sign, Abnormal pyramidal... OMIM:617339
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Joubert Syndrome 30
Cerebellar atrophy, Gray matter heterotopia, Molar tooth sign on MRI, Superior cerebellar dysplas... OMIM:617622
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase concentration, Elevated circ... OMIM:619048
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... ORPHA:70588
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased ... OMIM:619802
Liang-Wang Syndrome
Cerebellar atrophy, Ataxia, Cerebral atrophy, Dystonia OMIM:618729
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Hypospadias, Ataxia, Small for gestational age, Neutropenia, Hyperammonemia, ... OMIM:615471
Dpm1-Cdg
Cerebellar atrophy, Ataxia, External genital hypoplasia, Elevated circulating creatine kinase con... ORPHA:79322
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity... ORPHA:542310
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cryptorchidism, Cerebellar hypoplasia, Spasticity, Ventriculomegaly OMIM:613730
Symptomatic Form Of Hfe-Related Hemochromatosis
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... ORPHA:465508
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Elongated superior cerebellar peduncle,... OMIM:609583
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Anemia, Dyspnea ORPHA:75563
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Cerebellar hypoplasia, Neonatal respiratory distress, Respiratory ... OMIM:615042
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Lymphocytic intersti... OMIM:618495
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, B ... ORPHA:397596
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Cerebellar atrophy, Broad-based gait, Hypospadias, Small for gestational age, Failure to thrive i... OMIM:618891
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypercholesterolemia, Hepat... OMIM:612526
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Pancytopenia, Impaired T cell function, Elevated circulating creatine kinase ... OMIM:614576
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Positive Romberg sign... OMIM:614575
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Hepato... ORPHA:158057
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Abnormality of extrapyramidal moto... ORPHA:79279
Aminoacylase 1 Deficiency
Cerebellar atrophy, Cerebral cortical atrophy, Cerebral atrophy OMIM:609924
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Decreased circulating free fatty acid level, Lethargy, Large for gestational age, Increased C-pep... ORPHA:276575
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola... OMIM:609454
Oromandibular Dystonia
Respiratory distress, Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, L... ORPHA:93958
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Leukocytosis, Distal sensory impairment, Choreoathetosis, St... ORPHA:206594
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Pachygyria, Tip-toe gait,... OMIM:606612
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Paresthesia, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... OMIM:301045
Cimdag Syndrome
Cerebellar vermis hypoplasia, Ataxia, Chorea, Cerebral atrophy, Recurrent infections, Pontocerebe... OMIM:619273
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Failure to thriv... OMIM:606367
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Reduced sperm motility OMIM:619436
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Hyperhomocystinemia, Cys... OMIM:277400
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Recurrent bacterial infections... OMIM:300636
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cerebellar vermis hypoplasia, Splenomegaly, Hydrocephalus, Cholestasis, Hepatic fib... OMIM:615630
Neuroferritinopathy
Resting tremor, Caudate atrophy, Abnormal dentate nucleus morphology, Writer's cramp, Parkinsonis... ORPHA:157846
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Fetal ascites, Corpus callosum a... OMIM:261515
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, ... OMIM:615122
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Precocious puberty, Hypoplasia of the pons, Perisylvian polymicrogy... ORPHA:280195
Magel2-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Small scrotum, External genital hypoplasia, Impaired temperatur... ORPHA:398069
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Cryptorchidism, Gait ataxia, Spasticity, Spastic gait ORPHA:496790
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Abnormal pyramidal sign, Neutropenia, Spasticity, Opisthotonus, Choreoathetos... ORPHA:445038
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, Elevated circ... ORPHA:352447
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Thrombocytopenia OMIM:619751
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet gl... OMIM:603585
Biotinidase Deficiency
Diffuse cerebral atrophy, Ataxia, Splenomegaly, Hyperammonemia, Lethargy, Diffuse cerebellar atrophy OMIM:253260
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Rigidity, Splenomegaly, Oculomotor apraxia, Cerebral atrophy, Anemia, Strido... OMIM:230900
Developmental And Epileptic Encephalopathy 65
Cerebellar atrophy, Spasticity, Cerebral atrophy OMIM:618008
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Pulmonary fibrosis, Bronchiolitis, Loss of ambulation, Frequent falls, Exertional dy... ORPHA:254361
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Abnormal pyramidal sign, Lissencephaly, Decreased body weight, Spasticity, Po... OMIM:614833
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Splenomegaly, Fulm... OMIM:308240
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:212140
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ... OMIM:150550
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Intermittent hyperventilation,... ORPHA:348
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia... OMIM:617854
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy OMIM:615026
Hypercalcemia, Infantile, 1
Lethargy, Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Cerebellar atrophy, Spastic tetraparesis OMIM:618506
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Lymphopenia, Ataxia, Head titubation, Hypoplasia of the pons, Dysmetria, Rect... OMIM:619708
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Abnormal anterior horn cell morphology, Cryptorchidism, Respiratory insuffi... ORPHA:1145
Cog8-Cdg
Cerebellar atrophy, Ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem, Failure to t... ORPHA:95428
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Medulloblastoma
Ataxia, Cerebellar calcifications, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar... ORPHA:616
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Depression, Clumsiness, Macroorchidism, Hypercholesterolemia, Abnormal circula... ORPHA:90674
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cerebellar atrophy, Cryptorchidism, Patent ductus arteriosus, Unsteady gait, Partial absence of c... ORPHA:329224
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... ORPHA:217260
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Isovaleric Acidemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocytopenia OMIM:243500
Japanese Encephalitis
Respiratory distress, Irregular respiration, Neutrophilia, Weakness due to upper motor neuron dys... ORPHA:79139
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Ascites, Anemia ORPHA:1046
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... ORPHA:171629
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Dystonia, Hemiplegia, Cerebellar vermis atrophy ORPHA:97
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Respiratory failure, Ascites ORPHA:890
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundice, Asthma,... OMIM:612714
Analbuminemia
Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL cholester... OMIM:616000
Meckel Syndrome 13
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia OMIM:617562
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Recurrent infections OMIM:300804
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Pneumonia, Splenomegaly, Asthma, Lymphadenopathy, Decreased C... OMIM:607271
Sézary Syndrome
Hepatomegaly, Abnormal pleura morphology, Tremor, Splenomegaly, Lymphadenopathy, Abnormal lymphoc... ORPHA:3162
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Neutrophilia, Abscess, Splenomegaly, Pulmonary fibrosis OMIM:612852
Succinic Acidemia
Respiratory distress OMIM:600335
Alg1-Cdg
Cerebellar atrophy, Sepsis, Cerebral atrophy, Recurrent infections, Hypoalbuminemia ORPHA:79327
Optic Atrophy 11
Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements, Cerebellar hypo... OMIM:617302
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Abnormal pyramidal sign, Rhinitis ORPHA:93476
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Myoclonus, Lethargy, Pachygyria, Cerebral cortical atrophy OMIM:614922
Idiopathic Intracranial Hypertension
Lethargy, Obesity, Depression ORPHA:238624
Insulinoma
Tremor, Increased body weight, Paresthesia, Abnormality of pain sensation, Lethargy ORPHA:97279
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Hepatomegaly, Dyspnea, Respiratory insufficiency, Stridor, Cerebellar hypoplasia, Ventriculomegaly OMIM:615182
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Lethargy, Failu... OMIM:251000
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Premature ovarian insuffic... ORPHA:199299
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... OMIM:619725
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Hypoalbuminemia, Cerebellar vermis atrophy, Decreased body weight OMIM:618347
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Brain atrophy OMIM:619092
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Pulmonary hypoplasia, Respiratory distress OMIM:616733
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Cerebral atrophy, Depression, Head tre... ORPHA:314404
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Fasciculations ORPHA:1143
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Generalized cerebral ... ORPHA:36387
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Gray matter heterotopia, Cerebellar hypoplasia, Lethargy, Polymicrogyri... OMIM:617397
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Pancytopenia, Tremor, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, ... OMIM:251100
Spinocerebellar Ataxia 47
Ataxia, Chorea, Dysmetria, Spasticity, Cerebellar vermis atrophy OMIM:617931
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Generalized dystonia, Abnormal mitochondrial shape, Unsteady gait, Cerebral a... ORPHA:412217
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Cerebellar atrophy, Neonatal respiratory distress, Apnea, Ataxia, Spasticit... OMIM:618426
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Small for gestational age OMIM:618302
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Transient hyperlipidemia, Hemiplegia/hemiparesis ORPHA:156
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Large for gestational age, Increased C-peptide level ORPHA:276580
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Chorea, Restrictive ventilatory defec... ORPHA:369840
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign... ORPHA:306674
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Tremor, Abnormal circulating fatty-acid concentration, Increased body ... ORPHA:263455
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Portal hyperte... OMIM:216360
Mohr-Tranebjaerg Syndrome
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm... ORPHA:52368
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Decreased proportion of marginal zone B cells, Au... OMIM:619375
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance ORPHA:99014
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur... ORPHA:545
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Hyperlipidemia, Failure to thrive ORPHA:2089
Developmental And Epileptic Encephalopathy 93
Cerebellar atrophy, Spastic tetraparesis, Inability to walk, Cerebral atrophy, Gait disturbance OMIM:618012
Maple Syrup Urine Disease
Elevated circulating branched chain amino acid concentration, Ataxia, Hypertonia, Elevated circul... OMIM:248600
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent herpes, Liver abscess, Sepsis, Pulmonary tuberculosis, Decreased circulating IgG level,... ORPHA:183675
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Multifocal Atrial Tachycardia
Lethargy, Cryptorchidism ORPHA:3282
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Recurrent pneumonia, Reduced sperm motility OMIM:602271
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Tr... OMIM:618249
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase OMIM:617068
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebellar atrophy, Simplified gyral pattern, Cerebral atrophy, Dystonia, Spasticity OMIM:619286
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Slc35A2-Cdg
Cerebellar atrophy, Increased circulating thyroglobulin level, Failure to thrive in infancy, Spas... ORPHA:356961
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Ataxia, Inability to walk, Dysmetria, Cerebellar hypoplasia, Dystonia, Oculomotor apraxia, Spasti... OMIM:618087
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus, Perivent... ORPHA:352582
East Syndrome
Cerebellar atrophy, Ataxia, Inability to walk, Hypokalemia, Hyperaldosteronism, Increased circula... ORPHA:199343
48,Xxyy Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Hypergonadotropic hypogonadism, Ataxia, Tr... ORPHA:10
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Gait ataxia, Hyperkineti... OMIM:620089
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Multiple Sulfatase Deficiency
Cerebellar atrophy, Hepatomegaly, Ataxia, Splenomegaly, Hydrocephalus, Cerebral atrophy, Spastici... OMIM:272200
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hypercholesterol... OMIM:306000
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... OMIM:612840
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Bronchie... OMIM:244400
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Scrub Typhus
Tremor, Splenomegaly, Lethargy, Meningitis, Infectious encephalitis ORPHA:83317
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Thrombocytosis, Spastic hemiparesis, Leukocytosis, Hyperammonemia, Weight loss, Leukopeni... ORPHA:20
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Elevated circulating alpha-fetoprotein concentration, Impaired vibration sensation in the lower l... ORPHA:95433
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Cerebellar vermis atrophy, ... OMIM:617988
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Ankle clonu... OMIM:213700
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Neutropenia, Perianal abscess, Cryptorchidism, Pate... OMIM:612541
Huppke-Brendel Syndrome
Cerebellar atrophy, Decreased circulating ceruloplasmin concentration, Decreased circulating copp... OMIM:614482
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Ataxia, Splenomegaly, Spastic tetraplegia, Cerebral atrophy, Gait disturbance, Sea-... OMIM:230600
Developmental And Epileptic Encephalopathy 48
Cerebellar atrophy, Cerebral atrophy, Limb hypertonia OMIM:617276
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Decreased circulating antibody level, Agam... OMIM:601495
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Cerebellar atrophy, Bilateral cryptorchidism, Opisthotonus, Increased serum bile acid concentrati... OMIM:619685
Developmental And Epileptic Encephalopathy 46
Tremor, Failure to thrive, Cerebral atrophy, Limb hypertonia OMIM:617162
Legionnaires Disease
Ataxia, Abnormal pleura morphology, Splenomegaly, Jaundice, Abnormal lung morphology, Recurrent p... ORPHA:549
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Abnormal pattern of respiration, Gait disturbance ORPHA:29822
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... ORPHA:572798
Peho Syndrome
Cerebellar atrophy, Neuronal loss in central nervous system, Myoclonus, Pachygyria, Polymicrogyria OMIM:260565
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Tetanus
Respiratory distress, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertonia, Spasticity of pharyn... ORPHA:3299
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Ataxia, Recurrent ear infections, Recurrent viral infections,... ORPHA:221139
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Lower limb spasticity, Microvesicular hepatic steatosis, Lateral ventricle dilatati... OMIM:300868
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Cardiomegaly, Hepatosplenomegaly, Hyd... ORPHA:79330
Gillespie Syndrome
Cerebellar atrophy, Postural tremor, Ataxia, Slurred speech, Cerebellar hypoplasia OMIM:206700
Superficial Siderosis
Cerebellar atrophy, Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of t... ORPHA:247245
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Tremor, Decreased fertility, Fasciculations, ... OMIM:313200
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent respiratory infections, Absent inner dynein arms, Recurrent pneumonia... OMIM:613807
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Unusual skin infection, Abnormal medulla oblongata morphology, Ataxia, Abnor... ORPHA:68
Joubert Syndrome 15
Ataxia, Oculomotor apraxia, Ambiguous genitalia, Micropenis, Molar tooth sign on MRI OMIM:614464
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... ORPHA:70594
Glutaric Acidemia Type 3
Lethargy, Failure to thrive, Abnormality of circulating enzyme level, Elevated circulating glutar... ORPHA:35706
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Pneumonia, Thrombocytopenia, S... ORPHA:781
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor ORPHA:97285
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... OMIM:615486
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Elevated circulating palmitoleylcar... ORPHA:79284
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Hypere... OMIM:615387
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Recurr... OMIM:617091
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cerebellar atrophy, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Cerebral atrophy, Peri... OMIM:618659
Gray Platelet Syndrome
Splenomegaly, Epistaxis, Thrombocytopenia ORPHA:721
Renal Hypoplasia, Bilateral
Hyponatremia, Small for gestational age, Cryptorchidism, Hyperkalemia, Lethargy, Failure to thriv... ORPHA:97362
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Speech apraxia, Ataxia, Dystonia, Cer... OMIM:615356
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Thromboc... OMIM:603553
Perry Syndrome
Parkinsonism, Tremor, Depression, Weight loss, Apathy, Abnormality of extrapyramidal motor function ORPHA:178509
Necrotizing Enterocolitis
Neonatal sepsis, Hyponatremia, Small for gestational age, Leukocytosis, Neutropenia, Lethargy, Th... ORPHA:391673
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Increased circulating IgE ... OMIM:147060
Perry Syndrome
Hypoventilation, Central hypoventilation, Parkinsonism, Akinesia, Tremor, Rigidity, Respiratory i... OMIM:168605
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Cryptorchidism, Obesity, Oculomotor apraxi... OMIM:619185
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Atelectasis, Recurrent pneumonia, Lymph... OMIM:306400
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Recurrent respiratory infections, Dystonia, Apnea, Splenomegaly, Abnormal pulmonary... OMIM:617050
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Microcytic anemia, Elevated circulating alanine aminotransferase ... OMIM:618805
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Cerebral atrophy ORPHA:166024
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Cough, Neutro... ORPHA:3260
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg... ORPHA:829
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Pyruvate Carboxylase Deficiency
Hepatomegaly, Athetosis, Clonus OMIM:266150
Juvenile Sialidosis Type 2
Hepatomegaly, Lower limb spasticity, Ataxia, Dysmetria, Hepatosplenomegaly, Myoclonus, Loss of am... ORPHA:93399
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Acute hyperammonemia, Failure to thrive, Opisthotonus OMIM:210200
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Recurrent respiratory infections, Coiled sperm flagella, Recurrent sinusitis, S... OMIM:620197
Srd5A3-Cdg
Cerebellar atrophy, Ataxia, Microcytic anemia, Abnormal cerebellum morphology, Abnormal cerebella... ORPHA:324737
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hypertriglyceridemia, Ataxia, Splenomegaly, Jaundice, Tetraplegia, Lymphadenopathy,... OMIM:267700
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Lethargy, Abnormal circulating serine concen... ORPHA:470
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Unsteady gait, Abnormal pyr... ORPHA:35069
Crigler-Najjar Syndrome
Lethargy, Infectious encephalitis ORPHA:205
Joubert Syndrome 35
Recurrent urinary tract infections, Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Elo... OMIM:618161
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Failure to thrive, Severe B lymphocytopenia, Lymphopenia, Apla... OMIM:102700
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Recurrent pharyngitis, Lymphadenopathy ORPHA:42642
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hypertonia, Myoclonus, S... OMIM:615851
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Absent outer dynein arms, Infertility, Recurrent sinusitis, Rec... OMIM:615500
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Steatorrhea, Ascites, Anemia ORPHA:75233
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Cerebellar atrophy, Cerebral atrophy, Limb dystonia OMIM:620269
Mercury Poisoning
Respiratory distress, Tremor, Dyspnea, Interstitial pneumonitis, Respiratory failure, Dystonia ORPHA:330021
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Bradypnea, Respiratory failure, Tetrapar... OMIM:617186
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... ORPHA:240094
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesi... OMIM:168600
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... OMIM:607765
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Cerebellar atrophy, Spastic tetraparesis, Progressive spastic paraparesis, Iron a... ORPHA:496756
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Respiratory di... OMIM:260400
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Moebius Syndrome
Respiratory distress, Poor coordination, Clumsiness, Dysdiadochokinesis, Gait disturbance, Decrea... OMIM:157900
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... ORPHA:319552
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Respiratory distre... ORPHA:329178
Listeriosis
Respiratory distress, Brain abscess, Somatic sensory dysfunction, Liver abscess, Ataxia, Pneumoni... ORPHA:533
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Reduced sperm motility, Abnormal central microtubular pair morp... OMIM:612650
Felty Syndrome
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Thrombocytopenia, Splenomegaly, Recurr... ORPHA:47612
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Corpus callosum atrophy, Babinski sign, Impaired distal vibration sensation, Spastic para... OMIM:616586
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i... OMIM:230800
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Speech apraxia, Apnea, Recurrent pneumonia, Myoclonus, Asp... ORPHA:314655
Idiopathic Congenital Hypothyroidism
Lethargy, Neonatal hyperbilirubinemia ORPHA:95717
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Pneumonia, Recurrent pn... OMIM:300400
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... ORPHA:905
Encephalitis Lethargica
Parkinsonism, Recurrent viral infections, Tremor, Increased circulating antibody level, Lethargy ORPHA:83600
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... OMIM:618935
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hypertonia, Gliosi... OMIM:252160
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Decreased body weight, Ataxia, Loss of ability to walk in first decade, Hyper... OMIM:300243
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy... ORPHA:71212
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Simplified gyral pattern, Myoclonus, Cerebral atrophy OMIM:619609
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Recurrent lower respiratory tract infect... OMIM:617802
Cog5-Cdg
Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Atrophy/Degeneration affecting the ... ORPHA:263487
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Hypergonadotropic hypogonadism, Cerebral atrophy, Secondary amenorrhea, Polyc... OMIM:268020
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Ataxia, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Hype... OMIM:311250
Episodic Ataxia, Type 2
Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia, Cerebellar vermis atrophy OMIM:108500
Familial Or Sporadic Hemiplegic Migraine
Cerebellar atrophy, Involuntary movements, Impaired temperature sensation, Dissociated sensory lo... ORPHA:569
Glutaric Acidemia I
Hepatomegaly, Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral v... OMIM:231670
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy, Sepsis, Hypertonia, Spasticity, Failure to thrive ORPHA:544503
Lymphoid Interstitial Pneumonia
Hepatomegaly, Multiple pulmonary cysts, Crackles, Respiratory tract infection, Mediastinal lympha... ORPHA:79128
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Abnormal central microtubular pair morphology of respiratory mo... OMIM:612649
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Absent inner a... OMIM:606763
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Adenylosuccinase Deficiency
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Opisthotonus, Gait ataxia, Myoclonus, He... OMIM:103050
Congenital Disorder Of Glycosylation, Type Id
Cerebellar atrophy, Spastic tetraparesis, Cerebral atrophy, Hypertonia, Failure to thrive OMIM:601110
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Hypospadias, Ataxia, Splenomegaly, Babinski sign, Tongue fasciculations, Hype... OMIM:252010
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Megaloblastic anemia, Atrophy of the spinal co... ORPHA:79282
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Immunodeficiency 12
Abnormal lymphocyte count, Recurrent viral infections, Recurrent bacterial infections, Absent iso... OMIM:615468
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Inability to walk, Cerebral atrophy, Gait di... ORPHA:168491
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Broad-based gait, Ataxia, Cryptorchidism, Simplified gyral pattern, Dysmetria, Anemi... OMIM:616541
Kleefstra Syndrome Due To A Point Mutation
Tracheomalacia, Gliosis, Cerebellar hypoplasia, Ventriculomegaly ORPHA:261652
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:613812
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... OMIM:251110
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... ORPHA:308552
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anem... OMIM:254900
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Recurrent sinusitis, Immoti... OMIM:614874
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Decreased ... OMIM:251290
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Tremor, Jaundice, Schistocytosis, Microangiopathic hemolyt... OMIM:274150
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Hyperammonemia, Elevated circulating creatine kinase concentration, Transient hyperlipi... OMIM:255120
Congenital Sialidosis Type 2
Hepatomegaly, Ataxia, Respiratory tract infection, Hydrocephalus, Dysmetria, Hepatosplenomegaly, ... ORPHA:93400
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... OMIM:613011
Joubert Syndrome 8
Hepatomegaly, Ataxia, Hypertonia, Prolonged neonatal jaundice, Oculomotor apraxia, Hyperventilation OMIM:612291
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Meningococcal Meningitis
Elevated circulating C-reactive protein concentration, Sepsis, Paresthesia, Lethargy, Infectious ... ORPHA:33475
Amyloidosis, Hereditary, Transthyretin-Related
Pulmonary edema, Ataxia, Cardiomegaly, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, ... OMIM:105210
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Charcot-Marie-Tooth Disease Type 4C
Cerebellar atrophy, Failure to thrive, Impaired pain sensation, Inability to walk, Impaired dista... ORPHA:99949
Saccharopinuria
Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Distal sensory impairment... ORPHA:3124
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Apnea, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor ... ORPHA:220497
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Increased mitochondrial number, Tremor, Dysmetria, Hypersegmentation of neutro... OMIM:615578
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... OMIM:602450
Whipple Disease
Hepatomegaly, Ataxia, Splenomegaly, Hydrocephalus, Mediastinal lymphadenopathy, Abnormal pyramida... ORPHA:3452
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Anemia OMIM:620321
Farber Lipogranulomatosis
Splenomegaly, Hepatomegaly, Lipogranulomatosis, Respiratory insufficiency OMIM:228000
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Cerebral palsy, Hyperammonemia, Opisthotonus, Hyperleucinemia, Lethargy, Fa... OMIM:210210
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Mcleod Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple... OMIM:300842
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebellar atrophy, Ataxia, Inability to walk, Dysmetria, Spasticity, Pachygyria, Cerebral cortic... OMIM:619576
Citrullinemia, Classic
Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated plasma citrull... OMIM:215700
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte... ORPHA:95430
Spastic Paraplegia 51, Autosomal Recessive
Cerebellar atrophy, Overweight, Inability to walk, Babinski sign, Spastic paraplegia, Spastic tet... OMIM:613744
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... OMIM:603554
O'Sullivan-Mcleod Syndrome
Somatic sensory dysfunction, Eosinophilia, Tremor, Atrophy of the spinal cord, Fasciculations ORPHA:99965
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... OMIM:211600
Evans Syndrome
Lethargy, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Auto... ORPHA:1959
Myopathy, Mitochondrial, And Ataxia
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Dysmetria,... OMIM:617675
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Respiratory failure requiring assisted ventilation, Hypertriglyceridemia, Ataxia, A... ORPHA:77293
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Respiratory distre... ORPHA:17
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... OMIM:613027
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ep... OMIM:614034
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in females, Increased ... ORPHA:528
Infantile Krabbe Disease
Respiratory distress, Lower limb spasticity, Diffuse cerebral atrophy, Spastic diplegia, Opisthot... ORPHA:206436
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Cachexia, Babinski sign, Dystonia, Spasticity OMIM:618186
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Clonus, Thrombocytope... OMIM:259720
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenome... ORPHA:158048
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Mediastina... ORPHA:1546
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Takenouchi-Kosaki Syndrome
Cerebellar atrophy, Hypospadias, Ataxia, Increased mean platelet volume, Cryptorchidism, Patent d... OMIM:616737
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectasis, Recurrent upper re... ORPHA:51636
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Cerebellar vermis hypoplasia, Hypospadias, Failure to thrive in infancy, Cryp... OMIM:611209
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Waddling gait, Respiratory ... ORPHA:98915
Tangier Disease
Hepatomegaly, Hypertriglyceridemia, Impaired temperature sensation, Impaired pain sensation, Sple... OMIM:205400
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia ORPHA:163596
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, St... OMIM:235555
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Respiratory distress, Resting tremor, Crackles, Atelectasis, Leuko... ORPHA:319213
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Gliosis, Myoclonic spa... OMIM:252150
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Ataxia, Inability to walk, Unsteady gait, Perisylvian polymicrogyria, Obesity... OMIM:618443
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hyperte... OMIM:619487
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Ataxia, Cerebellar vermis hypoplasia, Tremor, Microvesicular hepatic steatosis, Partial... OMIM:220111
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Cerebellar atrophy, Torticollis, Ataxia, Limb hypertonia OMIM:618547
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Multiple pulmonary cysts, Pulmonary cyst, Elevated ... ORPHA:400
Myotonic Dystrophy 1
Respiratory distress, Cholelithiasis, Testicular atrophy, Cerebral atrophy OMIM:160900
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Erythrocytosis, Familial, 1
Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion... OMIM:133100
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Somatic sensory dysfunction, Cerebellar atrophy, Ata... ORPHA:191
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Sialidosis Type 1
Ataxia, Tremor, Splenomegaly, Slurred speech, Gait disturbance, Myoclonus ORPHA:812
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Ataxia, Large for gestational age, Patent ductus arteriosus, Babinski sign, C... OMIM:615398
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:600649
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Corpus callosum atrophy, Cerebral atrophy, Brain atrophy, Dystonia, Limb hype... OMIM:616875
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension OMIM:210050
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Small for gestational age, Refractory sideroblastic anemia, T... OMIM:557000
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Ataxia, Cerebral atrophy, Tetraparesis, Brain atrophy OMIM:619260
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, De... OMIM:300972
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B cells, Failure to thrive... OMIM:619693
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Recurrent pneumonia, Abnormal axonemal organization of respirat... OMIM:613808
Sepsis In Premature Infants
Hepatomegaly, Abnormal mucociliary clearance, Splenomegaly, Leukocytosis, Jaundice, Dyspnea, Abno... ORPHA:90051
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Babinski sign, Tip-toe gait, Hypocalcemia, Lethargy, Frequent falls ORPHA:746
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Azoospermia, Cirrhosis, ... OMIM:235200
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Apnea, Ataxia, Dyspnea, Chorea, Episodic respiratory distress, Gait ataxia, Hyperto... ORPHA:255210
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr... ORPHA:398124
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Failure to thrive, Global brain atrophy, Hepatosplenomegaly OMIM:608776
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Inability to walk, Hydrocephalus, Hepatos... ORPHA:505248
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Ataxia, Impaired temperature sensation, Cardiomegaly,... OMIM:268800
Developmental And Epileptic Encephalopathy 95
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, Cryptorchidism, Cerebral a... OMIM:618143
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyra... ORPHA:2131
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ataxia, Spastic tetraparesis, Respiratory insufficiency due to muscle weakness, Abn... ORPHA:436271
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Cerebellar atrophy, Ataxia, Cholangitis, Microvesicular hepatic st... OMIM:124000
Joubert Syndrome
Cerebellar vermis hypoplasia, Apnea, Episodic tachypnea, Ataxia, Tremor, Hydrocephalus, Gait dist... ORPHA:475
Joubert Syndrome 3
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Elongated super... OMIM:608629
Biotinidase Deficiency
Ataxia, Recurrent viral infections, Hyperammonemia, Recurrent candida infections, Recurrent funga... ORPHA:79241
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Hypertonia, Thrombocytopenia ORPHA:85212
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Poikilocytosis, Eleva... OMIM:615234
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Decreased basophi... OMIM:618394
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Cerebral palsy, Ataxia, Precocious puberty, Cerebellar vermis atrophy, Obe... ORPHA:163681
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t... ORPHA:83629
Isolated Complex I Deficiency
Increased serum pyruvate, Ataxia, Focal T2 hyperintense brainstem lesion, Lethargy, Failure to th... ORPHA:2609
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Failure to thrive, Abnormal pyramidal sign, Ataxia OMIM:201470
Joubert Syndrome 22
Oculomotor apraxia, Agenesis of cerebellar vermis, Temporal cortical atrophy, Molar tooth sign on... OMIM:615665
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis, Parkinsonism OMIM:606688
Joubert Syndrome 27
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Gait ataxia OMIM:617120
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... ORPHA:822
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent u... OMIM:616100
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea ORPHA:2759
Joubert Syndrome 31
Oculomotor apraxia, Molar tooth sign on MRI, Truncal ataxia OMIM:617761
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Shukla-Vernon Syndrome
Cerebellar atrophy, Broad-based gait OMIM:301029
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Apnea, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor ... ORPHA:220493
Ebola Hemorrhagic Fever
Sepsis, Leukopenia, Increased circulating antibody level, Lethargy, Lymphopenia, Thrombocytopenia ORPHA:319218
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Nonproductive cough, Dyspnea, Ast... ORPHA:97287
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Recurrent pneumon... ORPHA:496641
Abetalipoproteinemia
Cardiomegaly, Impaired distal proprioception, Impaired proprioception, Dysmetria, Gait ataxia, St... ORPHA:14
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Recurrent viral infections, Recurrent mycobacterial infections, Splenomegaly, S... ORPHA:169090
Laron Syndrome
Hypercholesterolemia, Hypoplasia of penis, Truncal obesity ORPHA:633
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... OMIM:616433
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233710
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interstitial pn... OMIM:127550
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Ataxia, Steatorrhea, Hypocholesterolemia OMIM:266510
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Tremor, Dysmetria, Primary amenorrhea, Depression, Progressive cereb... ORPHA:502423
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Inability ... ORPHA:466768
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Methemoglobinemia, Hypoxemia ORPHA:464453
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Recurrent respiratory infections, Small for gestational age, Cryptorchidism, ... OMIM:193700
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Hypospadias, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Cryptor... ORPHA:468631
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Large for gestational age, Tremor, Patent ductus arteriosus, Cerebral atrophy... OMIM:614080
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Recurrent viral infections, Sepsis, Le... ORPHA:811
Presynaptic Congenital Myasthenic Syndromes
Waddling gait, Recurrent respiratory infections, Sudden episodic apnea, Ataxia, Intermittent epis... ORPHA:98914
Congenital Myasthenic Syndrome
Waddling gait, Recurrent respiratory infections, Sudden episodic apnea, Ataxia, Intermittent epis... ORPHA:590
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepatocellular necr... OMIM:201475
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Cardiomegaly, Dyspnea, Ascites, Pulmonary edema OMIM:115197
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Asthma, Hepat... OMIM:606003
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Decreased plasma free carnitine, Elevated cir... OMIM:608836
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Dysplastic corpus callosum, Hydrocele testis, Cerebellar hypoplasia, Hypocholestero... OMIM:618810
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Omenn Syndrome
Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymp... ORPHA:39041
Oculopharyngodistal Myopathy 1
Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien... OMIM:164310
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia ORPHA:438216
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233690
Dengue Fever
Lethargy, Thrombocytopenia, Hypoproteinemia, Leukopenia ORPHA:99828
Familial Thyroid Dyshormonogenesis
Lethargy, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Coach Syndrome 2
Oculomotor apraxia, Cerebellar vermis hypoplasia, Elevated circulating creatinine concentration, ... OMIM:619111
Coach Syndrome 3
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Anemia OMIM:619113
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Absent inner and outer dynein arms, Infertility, Recurrent sinu... OMIM:615444
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence, Neurodegeneration... OMIM:146500
Wolfram Syndrome 1
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Cerebral atrophy, Testicular atrophy,... OMIM:222300
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Hypoplastic labia minora, Cerebral atrophy, Hypoplastic labia majora, Hyperto... OMIM:619124
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Cerebellar atrophy, Cerebral atrophy, Recurrent infections, Hippocampal atrophy, Failure to thriv... OMIM:618922
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the brainstem, Ocul... OMIM:610688
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut... ORPHA:1572
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis... ORPHA:98907
Spinocerebellar Ataxia Type 7
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Babinski sign, Dysmetria, Cerebral atrop... ORPHA:94147
Pyruvate Carboxylase Deficiency
Hepatomegaly, Ataxia, Tremor, Cerebellar gliosis, Tachypnea, Abnormal pyramidal sign, Tip-toe gai... ORPHA:3008
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Cardiomegaly, Respiratory tract infection, Atelect... ORPHA:365
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Cerebellar atrophy, Ataxia, Depression, Cataplexy, Spasticity OMIM:604121
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Acanthocytosis, Tremor, Rigidity, Babinski sign, ... OMIM:234200
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Recurrent urinary tract infections, Hypospadias, Focal polymicrogyria, Crypto... OMIM:619103
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Elevated circulating aspartate aminotransferase concentration... OMIM:170100
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Inability to walk, Stomatocytosis... OMIM:608885
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cerebellar atrophy, Ataxia, Involuntary movements, Inability to walk, Chorea, Cerebral atrophy, D... OMIM:617804
Joubert Syndrome 2
Agenesis of cerebellar vermis, Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Dysgenes... OMIM:608091
Argininosuccinic Aciduria
Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Failure to th... OMIM:207900
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy... ORPHA:100026
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Recurrent pne... OMIM:608233
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochro... OMIM:616084
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Respiratory failure, Spasticity, Opisthotonus OMIM:610678
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight, Impaired pain sensation OMIM:182290
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Splenomeg... ORPHA:79240
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Increased circulati... ORPHA:86816
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventriculomegaly, Multiple pulmonary cysts, Hypertriglyceridemia,... OMIM:619418
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Ataxia OMIM:275630
Joubert Syndrome 28
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI OMIM:617121
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Pleural effusion, Lymphadenopathy ORPHA:85414
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Micropenis, Hypo... OMIM:241410
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Meckel Syndrome, Type 3
Hepatomegaly, Malformation of the hepatic ductal plate, Hydrocephalus, Bile duct proliferation, H... OMIM:607361
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Truncal ataxia, Cerebellar vermis atr... OMIM:617101
Scheie Syndrome
Hepatomegaly, Cerebral palsy, Splenomegaly, Rhinitis, Spastic paraparesis ORPHA:93474
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Ataxia, Myoclonus, Aspiration pneumonia, Dystonia, Left ventricular hypertrophy OMIM:619167
Kaposiform Lymphangiomatosis
Epistaxis, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Abnormality of the lymphatic... ORPHA:464329
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Intellectual Developmental Disorder, Autosomal Dominant 62
Cerebellar vermis atrophy OMIM:618793
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Exaggerated startle response, Caudate atrophy, Cerebellar vermis hypopl... OMIM:615574
Glycogen Storage Disease Ii
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Respiratory insufficiency due to mu... OMIM:232300
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tr... ORPHA:25
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Ataxia, Inability to walk, Opisthotonus, Choreoathetosis, Gait ataxia, Limb h... OMIM:619580
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Precocious puberty, Tremor, Pachygyria, Spasticity,... ORPHA:1934
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Hydrocephalus, Abnormality of the lymphatic system... ORPHA:538
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Impaired pain sensation, Precocious puberty, ... ORPHA:819
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Agnathia-Otocephaly Complex
Respiratory distress, Agenesis of corpus callosum, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Ataxia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, D... OMIM:612780
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Apnea, Elevated circulating alanine aminotransferase concentration, Cerebral atroph... OMIM:261680
Amish Lethal Microcephaly
Hepatomegaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly, Limb h... ORPHA:99742
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Abnormal pulmonary int... ORPHA:77259
Infantile Liver Failure Syndrome 2
Lethargy, Hyperammonemia OMIM:616483
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Holocarboxylase Synthetase Deficiency
Lethargy, Thrombocytopenia, Hypertonia, Hyperammonemia OMIM:253270
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Unilateral cryptorchidism, Bilateral cryptorchidism OMIM:300219
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Abnormality of neutroph... ORPHA:379
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis medi... OMIM:608647
Bilateral Polymicrogyria
Cerebellar atrophy, 4-layered lissencephaly, Spastic tetraparesis, Spastic hemiparesis, Perisylvi... ORPHA:268940
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocy... ORPHA:436159
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Diaphanospondylodysostosis
Respiratory distress, Respiratory insufficiency, Abnormal liver lobulation, Pulmonary hypoplasia,... OMIM:608022
Joubert Syndrome 16
Oculomotor apraxia, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Axonal degeneration, Dystonia, Spasticity, Global brain atrophy OMIM:616811
Immunodeficiency 92
Hepatomegaly, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memory... OMIM:619652
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Recurrent respiratory infections, Autoimmune hemolytic anemia, Res... ORPHA:37042
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Ataxia, Small for gestational age, Spastic tetraplegia, Cerebral atrophy, Hyp... OMIM:251300
Glycerol Kinase Deficiency
Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Cryptorchidism, Lethargy OMIM:307030
Joubert Syndrome 7
Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Oculomotor apraxia, Molar tooth sign on... OMIM:611560
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Hydrocephalus, Pulmonary hypoplasia, Cere... ORPHA:3309
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Elevated circu... OMIM:116920
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, P... ORPHA:60025
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Spastic tetraparesis... OMIM:614924
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Apnea, Tremor, Cryptorchidism, Jaundice, Respiratory insufficiency... OMIM:608093
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Tremor, Splenomegaly, Jaundice, Neonatal asphyxia, N... ORPHA:525731
Young-Onset Parkinson Disease
Tremor, Rigidity, Spasticity, Depression, Bradykinesia, Male sexual dysfunction, Apathy, Gait imb... ORPHA:2828
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Ataxia, Epistaxis, Abnormality of neutrophils, Splenomegaly, Res... ORPHA:33226
Immunodeficiency 10
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections OMIM:612783
Lymphatic Malformation 7
Respiratory distress, Chylothorax, Pleural effusion, Ascites, Anemia, Pulmonary edema OMIM:617300
Postinfectious Vasculitis
Abnormal circulating protein concentration, Persistent human papillomavirus infection, Increased ... ORPHA:48435
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Abscess, Respiratory tract infection, Peritonitis, Ta... ORPHA:36234
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Dyspnea, Abnormal pulm... ORPHA:809
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Trichothiodystrophy
Cryptorchidism, Recurrent bronchopulmonary infections, Abnormal pyramidal sign, Increased mean co... ORPHA:33364
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Simplified gyral pattern, Cerebellar vermis atrophy OMIM:615760
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Spasticity, Oromotor apraxia, Hepatosplenomegaly ORPHA:466934
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Hemophagocytosis, Anemia OMIM:618398
Neuhauser Syndrome
Hypercholesterolemia, Poor coordination, Ataxia, Cerebral cortical atrophy OMIM:249310
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Apnea, Clonus, Tremor, Jaundice, Cerebral atrophy, Hypopnea, Respiratory failure, Hyper... OMIM:617248
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Lower limb spasticity, Hemolytic anemia, Pancytopenia, Spastic tetraparesis, ... OMIM:615846
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, ... ORPHA:478
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Trichinellosis
Babinski sign, Increased circulating IgE level, Hemiparesis, Apathy, Hemiplegia, Lethargy, Mening... ORPHA:863
Joubert Syndrome 20
Oculomotor apraxia, Inability to walk, Molar tooth sign on MRI OMIM:614970
Slc39A8-Cdg
Cerebellar atrophy, Abnormal blood zinc concentration, Failure to thrive in infancy, Inability to... ORPHA:468699
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Lympha... ORPHA:540
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Dyspnea, Lymphadenopathy, Cough ORPHA:3386
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Joubert Syndrome 21
Apnea, Ataxia, Dyspnea, Splenomegaly, Respiratory failure, Pulmonary hypoplasia, Oculomotor aprax... OMIM:615636
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic... OMIM:614700
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lobation, Cholest... OMIM:615415
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Incoordination, Abnormal medulla oblongata morpholog... ORPHA:297
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:617127
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hepatomegaly, Waddling gait, Frequent falls, Pulmonary hypoplasia, Pleural ... OMIM:620369
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, H... OMIM:610644
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Inability to walk, Respiratory insufficiency, Astrocytosis, Pulmona... ORPHA:258
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Cerebellar vermis hypoplasia, Cerebral atrophy, Recurrent infections, Cerebel... OMIM:618590
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Ataxia, Dysmetria, Steatorrhea, Shawl scrotum, Failure to thrive OMIM:616263
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor ORPHA:713
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Beta-Ketothiolase Deficiency
Hepatomegaly, Ataxia, Leukocytosis, Tachypnea, Extrapyramidal dyskinesia, Cough, Thrombocytosis, ... ORPHA:134
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impai... ORPHA:2388
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Tremor, Cholestatic liver disease, C... ORPHA:79095
Nocardiosis
Respiratory distress, Brain abscess, Liver abscess, Pneumonia, Productive cough, Lymphadenitis, P... ORPHA:31204
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Recurrent urinary tract infections, Thrombocytosis, Polycythemia, Recurre... ORPHA:2968
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Spastic paraplegia ORPHA:896
Wilson Disease
Acute hepatic failure, Tremor, Hand tremor, Limb dystonia, Hepatic steatosis, Hepatomegaly, Hemol... OMIM:277900
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
Combined Oxidative Phosphorylation Defect Type 29
Poor coordination, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse cerebellar a... ORPHA:478029
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... ORPHA:137914
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Corpus callosum atrophy, Abnormal cerebellum morphology, Babinski sign, Impaired vibratio... ORPHA:447753
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Argininemia
Cerebellar atrophy, Hepatomegaly, Micronodular cirrhosis, Cholestasis, Progressive spastic quadri... OMIM:207800
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hy... ORPHA:2330
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Ataxia, Small for gestational age, Inability to walk, ... OMIM:617799
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Hypertonia, Cerebellar hypoplasia ORPHA:50810
Cystic Fibrosis
Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu... OMIM:219700
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Exertional dyspnea ORPHA:90037
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Hypogonadism, Ataxia OMIM:610651
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Lethargy, Abnormal circulating thyroglobulin level, Depression ORPHA:99832
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Macrocytic anemia, Granulocytopenia OMIM:606164
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Prolonged neonatal jaundice ORPHA:226313
Complete Atrioventricular Septal Defect
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Wheezing, Recurrent pneumonia, Tac... ORPHA:1329
Galloway-Mowat Syndrome 3
Cerebellar atrophy, Pachygyria, Simplified gyral pattern, Cerebral atrophy, Hypoalbuminemia, Liss... OMIM:617729
Hydranencephaly
Spastic diplegia, Opisthotonus, Lethargy, Meningitis, Cerebral cortical atrophy ORPHA:2177
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Hepatomegaly, Recurrent respiratory infections, Dyspnea, Pulmonary venous hypertension... ORPHA:75249
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Ataxia, Tremor, Dyspnea, Respiratory insufficiency, Respiratory failure, Dystonia, ... OMIM:610505
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Tremor, Dyspnea, Exocrine pancreatic insufficiency, Babinski sign, Hyper... OMIM:616539
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine... ORPHA:159
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Failure to thrive, Polycystic ovaries, Steatorrhea ORPHA:2176
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Hypoalbuminemia, Cerebellar hypoplasia, Hyperalaninemia, Spasticity, Failure ... OMIM:618329
Toxic Epidermal Necrolysis
Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Respirato... ORPHA:537
Hypotonia, Ataxia, And Delayed Development Syndrome
Speech apraxia, Cerebellar atrophy, Pain insensitivity, Broad-based gait, Ataxia, Cerebellar verm... OMIM:617330
Cadds
Cerebellar atrophy, Increased circulating very long-chain fatty acid concentration, Dystonia ORPHA:369942
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Irregular menstruation, Polycystic ova... ORPHA:79259
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Ataxia, Bilateral cryptorchidism, Tremor, Abnormality of neuronal m... ORPHA:2754
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Cerebellar atrophy, Cerebellar hypoplasia, Cerebral cortical atrophy OMIM:617763
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Hypospadias, Pure red cell aplasia, Thrombocyt... ORPHA:124
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level, Lethargy, Failure to thrive ORPHA:427
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:212138
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hypertonia, Hepatic fibrosis, Paralysis, Hepatosplenomegaly, Azoosperm... ORPHA:2072
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Coccidioidomycosis
Respiratory distress, Eosinophilia, Pneumonia, Abscess, Abnormality of the spleen, Mediastinal ly... ORPHA:228123
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Galloway-Mowat Syndrome 9
Choreoathetosis, Cerebellar atrophy, Cerebral cortical atrophy OMIM:619603
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Ataxia, Splenomegaly, Abnormal pulm... ORPHA:77261
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Meckel Syndrome, Type 10
Dilated fourth ventricle, Hypospadias, Cerebellar hypoplasia, Molar tooth sign on MRI, Micropenis... OMIM:614175
Alpha-Mannosidosis, Infantile Form
Cerebellar atrophy, Recurrent urinary tract infections, Pancytopenia, Ataxia, Spastic paraplegia,... ORPHA:309282
Craniofaciofrontodigital Syndrome
Respiratory distress, Cardiomegaly, Dyspnea, Hemiparesis, Pulmonary arterial hypertension ORPHA:363705
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum ORPHA:990
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoo... OMIM:615751
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the brainstem... ORPHA:444072
Joubert Syndrome 40
Oculomotor apraxia, Molar tooth sign on MRI OMIM:619582
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Respiratory distress, Splenic cyst, Enlarged kidney, Ventriculomegaly OMIM:618188
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Spasticity, Abnormal mitochondrial shape ORPHA:485421
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Brain abscess, Hydrocephalus, Respiratory failure, Pulmonary... OMIM:616482
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Gaucher Disease
Hepatomegaly, Pancytopenia, Ventriculomegaly, Ataxia, Tremor, Splenomegaly, Hydrocephalus, Hemipl... ORPHA:355
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve... OMIM:300291
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Histiocytoid Cardiomyopathy
Polycystic ovaries, Cerebellar malformation, Hemiplegia, Lethargy, Failure to thrive ORPHA:137675
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Sinusitis, Splenomegaly, Lymph... OMIM:617591
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... OMIM:619573
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Cryptorchidism, Pulmonary fibrosis, Emphysema, Lymphopenia... OMIM:620365
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Hepatomegaly, Apnea, Hyperventilation OMIM:229700
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Hepatomegaly, Bilateral trilobed lung, Cardiomegaly, Asplenia, Aqueductal s... OMIM:306955
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Splenomeg... OMIM:615688
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Exertional dyspnea ORPHA:90033
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration OMIM:615919
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Cryptorchidism, Cerebellar hypoplasia, Trach... OMIM:217980
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Abnormal cortical gyration, Rigidity, Progressive spastic quadriple... ORPHA:521426
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Patent ductus arteri... ORPHA:369837
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Splenomegaly, Hydrocephalus, Atelectasis, Respiratory insufficiency, Periportal fib... OMIM:269860
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spastic diplegia, Gait disturba... OMIM:300966
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Cerebellar vermis hypoplasia, Cardiomegaly, Hydrocep... ORPHA:228308
Craniosynostosis 6
Cerebellar atrophy, Dandy-Walker malformation OMIM:616602
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Corpus callosum atrophy, Dystonic gait, Cerebral atrophy, Diffuse cerebellar atrophy, Limb hypert... ORPHA:480898
3-Methylglutaconic Aciduria, Type Viia
Cerebellar atrophy, Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Alexander Disease
Ataxia, Clonus, Precocious puberty, Tremor, Chorea, Aqueductal stenosis, Abnormal pyramidal sign,... ORPHA:58
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia, Pancreatitis OMIM:207750
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Chiari type I malformation, Hypertonia, H... OMIM:270400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Arima Syndrome
Dilated fourth ventricle, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Agenesis of cerebel... OMIM:243910
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells OMIM:618307
Leukodystrophy, Hypomyelinating, 12
Cerebellar atrophy, Spasticity OMIM:616683
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Absent vas deferens, Recurren... ORPHA:586
Lathosterolosis
Hypoplasia of penis, Anisopoikilocytosis, Abnormal platelet morphology, Chiari malformation, Myoc... ORPHA:46059
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tremor, Hepatomegaly, Clonus, Cardiorespiratory arrest OMIM:619424
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... OMIM:181000
Combined Oxidative Phosphorylation Deficiency 25
Hypoplasia of the pons, Failure to thrive, Cerebellar atrophy, Cerebral atrophy OMIM:616430
Peho Syndrome
Cerebellar atrophy, Recurrent respiratory infections, Cerebral cortical atrophy, Atrophy/Degenera... ORPHA:2836
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Recurrent bacteri... OMIM:615895
Semilobar Holoprosencephaly
Abnormal central motor function, Inability to walk, Oromotor apraxia, Abnormal brainstem morpholo... ORPHA:220386
Alobar Holoprosencephaly
Abnormal central motor function, Inability to walk, Oromotor apraxia, Abnormal brainstem morpholo... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal central motor function, Inability to walk, Oromotor apraxia, Abnormal brainstem morpholo... ORPHA:93926
Lobar Holoprosencephaly
Abnormal central motor function, Inability to walk, Oromotor apraxia, Abnormal brainstem morpholo... ORPHA:93924
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Pfeiffer Syndrome Type 2
Respiratory distress, Aqueductal stenosis, Hydrocephalus, Chiari malformation, Tracheomalacia ORPHA:93259
Congenital Disorder Of Glycosylation, Type Iie
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Splenomegaly, Cerebral at... OMIM:608779
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy OMIM:201450
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Hypocalcemia, Anemia, Hypomagnesemia OMIM:244460
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Dyskeratosis Congenita, Autosomal Recessive 8
Cerebellar atrophy, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural... OMIM:620133
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility, Recurrent infections OMIM:615434
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Ataxia, Small for gestational age, Tremor, Cryptorchidism, Hyperammonemia, Hyperalan... OMIM:614052
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Ataxia, Cryptorchidism, Hypertonia, Gait disturbance, Gliosis, Cerebral cortica... ORPHA:268261
Cocaine Intoxication
Respiratory distress, Involuntary movements, Diffuse alveolar hemorrhage, Hyperventilation, Tremo... ORPHA:90068
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Degeneration of anterior horn cells OMIM:271225
Metachromatic Leukodystrophy
Incoordination, Ataxia, Dystonia, Tremor, Abnormal gallbladder morphology, Hemobilia, Tip-toe gai... ORPHA:512
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Hypercholesterolemi... OMIM:238600
Gabriele-De Vries Syndrome
Waddling gait, Tremor, Cryptorchidism, Gliosis, Dystonia, Agenesis of corpus callosum, Ventriculo... ORPHA:506358
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Abnormality of the pancreas, Hydrocephalus, Cryptorchidism ORPHA:1555
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Cardiomegaly, Hydrocephalus, Pleural effusion, Ascites, Enlarged kid... OMIM:261740
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Cerebellar hypoplasia, Dandy-Walker malfo... OMIM:300968
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Apnea, Tremor, Splenomegaly, Hydrocephalus, Pulmo... ORPHA:667
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventriculo... OMIM:123790
Sandifer Syndrome
Anemia, Torticollis, Abnormal posturing ORPHA:71272
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Vocal cord paresis, Bronchitis, Episodic ... ORPHA:1199
Kniest Dysplasia
Respiratory distress, Gait disturbance, Tracheomalacia OMIM:156550
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Overweight, Abnormal cerebellum morphology, Lethargy, Abnormal cir... ORPHA:226307
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Cerebellar atrophy, Cerebral atrophy OMIM:616266
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Torticollis, Repeated pneumothoraces, Atelectasis, Hydrocephalus, Respirato... ORPHA:536467
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Polycythemia Vera
Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Portal vein thrombosis, Splenom... ORPHA:729
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Asplenia, Pulmonary arterial hypertension, Annular panc... ORPHA:210122
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... ORPHA:185
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Ataxia, Thrombocytopeni... ORPHA:50918
Joubert Syndrome 14
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the brainstem,... OMIM:614424
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... ORPHA:171
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Failure to thrive, Elevated circulating creatine kinase concentration OMIM:610131
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Unsteady gait, Agenesis of corpus callosum OMIM:618733
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Cryptorchidism, Lateral ventricle dilatation, Gliosis, Enlarged... OMIM:615873
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Dystonia, Neonatal alloimmune th... ORPHA:51
Orofaciodigital Syndrome Xvi
Ataxia, Inability to walk, Gray matter heterotopia, Oculomotor apraxia, Molar tooth sign on MRI OMIM:617563
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections, Eosinophilia, Cough ORPHA:2314
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Joubert Syndrome 1
Hemifacial spasm, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Brainstem ... OMIM:213300
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Cerebellar vermis hypoplasia, Hypospadias, Abnormal cerebellum ... ORPHA:397715
Papillorenal Syndrome
Chiari type I malformation, Gliosis OMIM:120330
Cockayne Syndrome A
Cerebellar atrophy, Ataxia, Tremor, Cryptorchidism, Splenomegaly, Irregular menstruation, Cerebra... OMIM:216400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbilirubinemia, Hypermethio... OMIM:617156
Ethylene Glycol Poisoning
Ataxia, Tachypnea, Episodic respiratory distress, Slurred speech, Myoclonus, Abnormal pattern of ... ORPHA:31826
Unilateral Polymicrogyria
Involuntary movements, Perisylvian polymicrogyria, Spastic tetraplegia, Hemiparesis, Poor fine mo... ORPHA:268943
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Hypogonadotropic hypogonadism, Unilateral vocal cord paralysis, Cerebral atro... OMIM:301030
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy, Splenomegaly OMIM:618541
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation, Anemia OMIM:612301
Cholera
Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Lethargy ORPHA:173
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Abnormal cerebellum morphology, Kinetic tremor OMIM:190310
White-Sutton Syndrome
Cerebellar atrophy, Incoordination, Hypoplasia of the pons, Obesity, Subcortical cerebral atrophy... ORPHA:468678
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Cerebellar hypo... ORPHA:79329
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Joubert Syndrome 9
Oculomotor apraxia, Molar tooth sign on MRI OMIM:612285
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasi... OMIM:613177
Congenital Tracheal Stenosis
Respiratory distress, Fetal ascites, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnorm... ORPHA:141127
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Cerebellar atrophy, Elevated circulating alpha-fetoprotein concentration, Tremor, Patent ductus a... ORPHA:280633
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Splenomegaly, Dyspnea, Tachypnea, Anemia OMIM:239200
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Pulmonary arterial hypertensi... ORPHA:71493
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Brain atrophy OMIM:607131
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Joubert Syndrome 18
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:614815
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cerebellar atrophy, Inability to walk, Recurrent infections, Truncal ataxia, Global brain atrophy OMIM:620066
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Abnormal pyramidal sign, Anemia, Abnormality of extrapyramidal motor function, Bo... OMIM:612199
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
9Q33.3Q34.11 Microdeletion Syndrome
Small scrotum, Spastic tetraparesis, Inability to walk, Cryptorchidism, Patent ductus arteriosus,... ORPHA:495818
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Ataxia, Abnormality of neuronal migration ORPHA:2318
Brucellosis
Hepatomegaly, Liver abscess, Lung abscess, Pneumonia, Bronchitis, Hypersplenism, Thrombocytopenia... ORPHA:1304
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Annular pancreas, Vocal cord paralysis, Spasticity, Ep... ORPHA:798
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Accessory spleen, Cerebellar vermis hypoplasia, Spastic tetraplegia, Hy... OMIM:619306
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... OMIM:610984
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... ORPHA:67036
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Intraalveolar phospholipid accumulation, Respiratory insufficiency, A... OMIM:222700
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Chiari malformation, Respiratory distress, Tracheomalacia ORPHA:93260
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Leukocytosis,... ORPHA:340
Achondroplasia
Respiratory distress, Upper airway obstruction, Hydrocephalus, Pulmonary hypoplasia OMIM:100800
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Diffuse cerebral atrophy, Severe B lymphocytopenia, Biliary h... ORPHA:83617
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Obesity, Male hypogonadism, Hypercholesterolemia, Micropenis OMIM:619471
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N... OMIM:232220
Cirrhosis, Familial
Lethargy, Increased level of propylene glycol in blood OMIM:215600
Adnp Syndrome
Respiratory distress, Cryptorchidism, Recurrent upper respiratory tract infections, Cerebral atro... ORPHA:404448
Genetic Transient Congenital Hypothyroidism
Lethargy, Increased circulating thyroglobulin level ORPHA:226316
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Ataxia ORPHA:2479
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Pulmonary hypoplasia OMIM:151210
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Paresthesia, Inspiratory stridor ORPHA:100050
Zygomycosis
Brain abscess, Sinusitis, Epistaxis, Cough, Mediastinal lymphadenopathy, Peritonitis, Atelectasis... ORPHA:73263
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity OMIM:176500
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Bone-marrow foam cells, Hypersplenism, Vacuolated l... ORPHA:275761
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
African Trypanosomiasis
Hepatomegaly, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements... ORPHA:3385
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Reticulocytopenia, Steroid-responsive anemia, Anemia OMIM:613309
Plague
Respiratory distress, Hepatomegaly, Splenomegaly, Lymphadenitis, Unsteady gait, Slurred speech, E... ORPHA:707
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Tachypnea, Anomal... ORPHA:555874
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Depression, Weight loss, Increased circulating cortisol level, Impotence, Primary ... ORPHA:652
Posterior Urethral Valve
Lethargy, Recurrent urinary tract infections ORPHA:93110
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Hydrocephalus OMIM:231005
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Pleural effusion, ... OMIM:249100
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Joubert Syndrome 17
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI OMIM:614615
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Cerebellar atrophy, Hypospadias, Increased mean platelet volume, Thrombocytopenia, Patent ductus ... ORPHA:487796
Mucopolysaccharidosis, Type Iiid
Cerebellar atrophy, Splenomegaly, Recurrent upper respiratory tract infections, Difficulty walkin... OMIM:252940
Leptospirosis
Respiratory distress, Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Cough, Elevated serum t... ORPHA:509
Joubert Syndrome 39
Pain insensitivity, Cerebellar vermis hypoplasia, Overweight, Oculomotor apraxia, Molar tooth sig... OMIM:619562
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Akinesia, Tremor, Inability to walk, Abnorma... ORPHA:86309
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect, Waddling gait OMIM:183900
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Splenomegaly, Hyperlipidemia, Vacuolated lymphocytes, Dyspnea, Pancreatitis ORPHA:565612
Hereditary Fructose Intolerance
Lethargy, Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm... OMIM:200995
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Lateral ventricle dilatation, Cerebral co... ORPHA:177907
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Cryptorchidism ORPHA:2519
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Noncommunicating hydrocephalus, Subependymal g... ORPHA:805
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Recurrent respiratory infections, Hypoammonemia, Clonus, Cryptorchidism, Depression... ORPHA:534
Steinert Myotonic Dystrophy
Endometrial carcinoma, Hypergonadotropic hypogonadism, Inability to walk, Decreased fertility, De... ORPHA:273
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... ORPHA:466650
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Periodic paralysis, Splenomeg... OMIM:276700
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Leukocytosis ORPHA:90065
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... ORPHA:412
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Cryptorchidism, Recurrent infections, Recurrent bacterial infec... ORPHA:2273
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Recurrent pancreatitis, Pancreatitis OMIM:615947
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Pulmonary artery stenosis, Cardiorespiratory arrest, Respiratory f... ORPHA:3342
Eisenmenger Syndrome
Respiratory distress, Hepatomegaly, Brain abscess, Increased pulmonary vascular resistance, Wheez... ORPHA:97214
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... ORPHA:90041
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Tachypnea, Abnormal pulmonary i... OMIM:613658
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Ataxia, Splenomegaly, Abnormal pyramidal sign, Spasticity ORPHA:163746
Colchicine Poisoning
Respiratory distress, Leukocytosis, Cardiorespiratory arrest ORPHA:31824
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Large for gestational age, Cerebral cortical atrophy, Gait ataxia OMIM:617011
Chromomycosis
Recurrent bacterial infections ORPHA:182
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Cutis Laxa, Autosomal Recessive, Type Iid
Bilateral cryptorchidism, Pneumothorax, Gliosis OMIM:617403
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Micropenis, Decreased testicu... OMIM:619321
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Rubinstein-Taybi Syndrome 1
Accessory spleen, Respiratory distress, Incoordination, Respiratory tract infection, Bilateral cr... OMIM:180849
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Respiratory failure requiri... ORPHA:99125
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease OMIM:613848
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypercholesterolemia, Liver abscess, Obesity ORPHA:69663
Alg9-Cdg
Cerebellar atrophy, Lower limb spasticity, Torticollis, Cerebral atrophy, Bicornuate uterus, Hypo... ORPHA:79328
Renal Cysts And Diabetes Syndrome
Hypospadias, Elevated circulating creatinine concentration, Hypoplasia of the uterus, Bicornuate ... OMIM:137920
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Respiratory failure, Chylothorax OMIM:620278
Glycogen Storage Disease Ic
Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Recurrent upper respirato... OMIM:232240
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Lethargy, Failure to thrive OMIM:229600
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Sarcoidosis
Increased T cell count, Abnormal lung morphology, Leukopenia, Cough, Emphysema, Hemolytic anemia,... ORPHA:797
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Patent ductus arteriosus, Cerebellar hypoplasia, Ambiguous genitalia, Molar tooth... OMIM:616300
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Small for gestational age, Clonus, Babinski sign, Dysmetria, Gait ataxia, D... OMIM:606721
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Splenomegaly, Hepatomegaly, Respiratory distress OMIM:617088
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas... OMIM:613471
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Polysplenia, Reduced progressive sperm motility OMIM:619608
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Bilateral ... OMIM:616268
Gitelman Syndrome
Neoplasm of the pancreas, Respiratory distress, Paralysis, Iron deficiency anemia, Paresthesia, P... ORPHA:358
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... ORPHA:1359
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Dilated fourth ventricle, Respiratory distress, Cerebellar vermis hypoplasia, Cyst of the ductus ... ORPHA:480880
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Digeorge Syndrome
Thrombocytopenia, Splenomegaly, Atelectasis, Recurrent pneumonia, Chronic pulmonary obstruction, ... OMIM:188400
Holoprosencephaly 14
Cerebellar atrophy, Periventricular heterotopia, Aqueductal stenosis, Partial absence of cerebell... OMIM:619895
22Q11.2 Deletion Syndrome
Abnormality of the tonsils, Splenomegaly, Hydrocephalus, Atelectasis, Abnormal lung lobation, Ast... ORPHA:567
Rodrigues Blindness
Nasal flaring OMIM:268320
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Hydrocephalus, Recurrent upper respir... OMIM:114290
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Joubert Syndrome 5
Agenesis of cerebellar vermis, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Oculomotor ap... OMIM:610188
Alström Syndrome
Respiratory distress, Hypoplasia of the Leydig cells, Hepatic fibrosis, Hepatic steatosis, Hepato... ORPHA:64
Meier-Gorlin Syndrome 1
Respiratory distress, Cryptorchidism, Emphysema OMIM:224690
Joubert Syndrome 38
Oculomotor apraxia, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia, Molar to... OMIM:619476
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Labial pseudohypertrophy, Polycyst... OMIM:151660
Knobloch Syndrome 1
Cerebellar atrophy, Ataxia, Patent ductus arteriosus, Cerebral atrophy, Polymicrogyria OMIM:267750
Relapsing Polychondritis
Dyspnea, Atelectasis, Hepatitis, Cough, Abnormal pattern of respiration ORPHA:728
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Abnormal midbrain morphology, Impaired pain sensation, Hyperlipidemia, Recurrent up... ORPHA:293987
Duplication Of The Pituitary Gland
Lower limb spasticity, Abnormal midbrain morphology, Decreased body weight ORPHA:314621
Meckel Syndrome, Type 4
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Dandy-Walker malformation OMIM:611134
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Poor coordination, Nasal flaring, Ventriculomegaly ORPHA:466943
Meckel Syndrome, Type 1
Dilated fourth ventricle, Accessory spleen, External genital hypoplasia, Asplenia, Cryptorchidism... OMIM:249000
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Anemia ORPHA:79404
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Exaggerated startle response, Hypertonia, Spasticity OMIM:618367
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Reduced sperm ... ORPHA:730
Hydrolethalus Syndrome 2
Molar tooth sign on MRI OMIM:614120
Pineoblastoma
Lethargy, Paralysis ORPHA:251909
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Micropenis, P... OMIM:616546
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Hydrocephalus, Respiratory failure, Abnormal testis morphology, Ag... ORPHA:2556
Aortic Arch Interruption
Respiratory distress, Tachypnea, Aortopulmonary window, Left ventricular hypertrophy, Exertional ... ORPHA:2299
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Periventricular nodular heterotopia, Failu... OMIM:277170
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Hemolytic anemia, Dystonia, Elevated circulating creatine kinase concentratio... OMIM:175780
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Chand Syndrome
Atelectasis, Ataxia ORPHA:1401
Doors Syndrome
Respiratory distress, Small cerebellar cortex, Myoclonus, Aspiration pneumonia, Thrombocytosis, D... ORPHA:79500
Glycine Encephalopathy
Lethargy, Hyperglycinemia ORPHA:407
Diets-Jongmans Syndrome
Cryptorchidism, Gliosis OMIM:618846
Ramos-Arroyo Syndrome
Respiratory distress ORPHA:1051
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... ORPHA:1578
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Cryptorchidism ORPHA:2554
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Waddling gait, Recurrent pneumonia, Acute myelomonocytic leukemia, Abnormal... ORPHA:99646
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Impaired pain sensation, Asthma, Paresthesia ORPHA:3206
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Periventricular heterotopia, Epispadias, Patent ductus arteriosus, ... OMIM:615948
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Respiratory distress, Respiratory failure requiring assisted venti... ORPHA:95455
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Cerebellar atrophy, Hypospadias OMIM:210730
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Exocrine pancreatic insufficiency, Pulmonary artery stenosis, Biliary atres... ORPHA:2255
Skin Creases, Congenital Symmetric Circumferential, 1
Cerebellar vermis atrophy, Dandy-Walker malformation OMIM:156610
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Cr... OMIM:309000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Recurrent respiratory infections, Conjugated hyperbilirubinemia, Increased circulating ferritin c... OMIM:619534
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Dysgenesis of the cerebellar vermis, Micropenis, Hypospadias, Molar tooth sign on MRI OMIM:619479
Osteoglophonic Dysplasia
Respiratory distress, Cryptorchidism OMIM:166250
8Q24.3 Microdeletion Syndrome
Respiratory distress, Abnormal lung lobation, Global brain atrophy, Exocrine pancreatic insuffici... ORPHA:508488
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Periventricular heterotopia, Bilateral cryptorchidism, Epispadias, Pate... ORPHA:434179
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Pmm2-Cdg
Elevated hepatic transaminase, Respiratory distress, Cerebellar vermis hypoplasia, Ataxia, Abnorm... ORPHA:79318
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Monosomy 22Q13.3
Recurrent pyelonephritis, Cerebellar cortical atrophy, Obesity, Impaired pain sensation ORPHA:48652
Heterotaxy, Visceral, 5, Autosomal
Cerebellar atrophy, Asplenia, Patent ductus arteriosus, Cerebral atrophy, Cerebellar hypoplasia OMIM:270100
Cancer-Associated Retinopathy
Diffuse cerebellar atrophy, Prostate cancer, Testicular neoplasm, Uterine neoplasm ORPHA:71505
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Alagille Syndrome 1
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia OMIM:118450
Isolated Arrhinia
Respiratory distress ORPHA:1134
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Somatic sensory dysfunction, Abscess, Impaired temperature sensation, Distal ... ORPHA:642
Ulbright-Hodes Syndrome
Respiratory distress, Cryptorchidism, Pneumothorax, Respiratory failure, Pulmonary hypoplasia ORPHA:3404
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cardiomegaly, Hepatic calcification, Pulmonary arterial hypertension, Ascit... ORPHA:51608
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665

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 Smpd1

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 Smpd1.

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

Title Journal IMPC Allele PubMed ID
Cell-intrinsic ceramides determine T cell function during melanoma progression. eLife (November 2022) Smpd1tm1a(EUCOMM)Wtsi PMC9699697

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Smpd1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Smpd1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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