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Gene: Ppt2 MGI:1860075

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Gene Summary

Name:
palmitoyl-protein thioesterase 2
Synonyms:
0610007M19Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased blood urea nitrogen level Ppt2tm2b(KOMP)Wtsi HOM Early adult 8.12×10-05

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 50% (1 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 50% (1 of 2)
Esophagus  Wholemount images heterozygote 50% (1 of 2)
Eye  Wholemount images heterozygote 50% (1 of 2)
Gall bladder  Wholemount images heterozygote 50% (1 of 2)
Heart  Wholemount images heterozygote 50% (1 of 2)
Hippocampus  Wholemount images heterozygote 50% (1 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 50% (1 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 50% (1 of 2)
Oral epithelium  Wholemount images heterozygote 50% (1 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Striatum  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

20 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

3 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

4 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

4 Images

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Human diseases caused by Ppt2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ppt2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance ORPHA:2274
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly, Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasc... OMIM:611721
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... OMIM:615285
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Pigmentary retinopathy, Progressive cere... OMIM:164500
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Clonus, Tremor, Splenomegaly, Leukocytosis, ... OMIM:615673
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Tongue atrophy, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, O... ORPHA:216873
Aceruloplasminemia
Tremor, Chorea, Gait ataxia, Macular degeneration, Hepatic fibrosis, Elevated hepatic iron concen... ORPHA:48818
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity... OMIM:616719
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Dystonia, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Anemi... ORPHA:289916
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesi... ORPHA:71277
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Urinary incontinence, Rigid... OMIM:607136
Spinocerebellar Ataxia Type 2
Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Abnormal cortical... ORPHA:98756
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly, Myoclonus, Dystonia ORPHA:139406
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements,... OMIM:616981
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Urinary incontinence, Tremor, Chorea, Babinsk... OMIM:618093
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor ... ORPHA:79263
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Urinary incontinence, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykines... OMIM:213600
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... OMIM:500003
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... ORPHA:248111
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Lower limb spasticity, Optic disc pallor, Generalized dystonia, Ataxia, Retin... OMIM:619389
Pontocerebellar Hypoplasia, Type 2C
Chorea, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia, Dystonia OMIM:612390
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Babinski sign, Optic atrophy, Pigmentary r... OMIM:264470
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Oculogyric crisis, Inability to walk, Chorea, Hyperkinetic movements, Myoclon... OMIM:614254
Cimdag Syndrome
Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Retinal dystrophy, Microvesicular hepatic ste... OMIM:619273
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Ataxia... ORPHA:822
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... ORPHA:824
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Vacuolated lymphocytes, Limb tremor, Dysmetria, Clumsiness, Dysdiadoc... OMIM:256731
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Appendicular spasticity, Clonus, Chorea, Spastic tetraplegia, Cerebellar verm... OMIM:613811
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Generalized dystonia, Ataxia, Abnormal reproductive system morphology, ... ORPHA:70472
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ... ORPHA:98811
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, C... ORPHA:98755
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Chorea, Babinski sign, Optic atrophy, 3-Methylglutaric aciduria, 3-Methylglutaconic acidu... OMIM:258501
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypergonadotropic hyp... ORPHA:251347
Gordon Holmes Syndrome
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Chorea, Secondary amenorrhea, Primary ... OMIM:212840
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Ataxia-Tapetoretinal Degeneration Syndrome
Ataxia, Pigmentary retinopathy, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Rod-cone ... ORPHA:1178
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Myoclonus, Thrombocytopenia, Intention tremor OMIM:610539
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutroph... ORPHA:2585
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasticity OMIM:615924
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Ataxia, Tremor, Hemiparesis, Pigmentary retinopathy, Abnormality ... OMIM:614307
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of ambulation, Thr... OMIM:615010
Sandhoff Disease
Splenomegaly, Hepatomegaly, Cherry red spot of the macula, Ataxia ORPHA:796
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Dystonia, Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, D... OMIM:617493
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy OMIM:618501
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Retinal pigment epithelial mottling, Progressive spastic paraparesis, B... ORPHA:506353
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Tremor, Inability to walk, Clumsiness, Eyelid myoclonus, Hepatosplenomegaly, Myocl... ORPHA:2590
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal... OMIM:617672
Episodic Kinesigenic Dyskinesia 2
Chorea, Dystonia, Involuntary movements, Paroxysmal dyskinesia OMIM:611031
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Cryptorchidism, Chorea, Inability to walk, Gait ataxia, Dystonia, Spasticity OMIM:618917
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Somatic sensory dysfunction, Unsteady gait, Abnormal pyramidal sign, Impaired proprioception, Lim... ORPHA:95434
Huntington Disease-Like 2
Involuntary movements, Parkinsonism, Chorea, Gait disturbance, Dystonia ORPHA:98934
Sandhoff Disease, Adult Form
Dystonia, Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dysphagia, Spasticity ORPHA:309169
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Spastic tetraparesis, Progressive cerebellar ataxia, 3-Methylglutaconic aciduria, D... ORPHA:67046
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Chorea, Poor coordination, Falls, Dystonia, Paroxysmal dyskinesia OMIM:619150
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Premature ovarian insufficiency, Ataxia, Retinal dystrophy, ... ORPHA:3156
Spinocerebellar Ataxia 1
Chorea, Impaired proprioception, Dysmetria, Spinocerebellar atrophy, Urinary bladder sphincter dy... OMIM:164400
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... ORPHA:231214
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Optic disc pallor, Clonus, Splenomegaly... OMIM:259720
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Pigmentary retinopathy OMIM:609016
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Dystonia, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Opti... OMIM:617282
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dy... OMIM:618317
Glutathione Synthetase Deficiency
Hemolytic anemia, Ataxia, Spastic tetraparesis, Pigmentary retinopathy, Increased level of L-pyro... OMIM:266130
Ceroid Lipofuscinosis, Neuronal, 3
Parkinsonism, Abnormal cerebellum morphology, Vacuolated lymphocytes, Optic atrophy, Macular dege... OMIM:204200
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Mepan Syndrome
Cerebellar atrophy, Limb dystonia, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic ... ORPHA:508093
Myoclonus, Intractable, Neonatal
Optic disc pallor, Chorea, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation, Dandy-... OMIM:617235
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia OMIM:612126
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia, Cerebellar hypoplasia ORPHA:2246
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Pancytopenia, Splenomegaly, Hepa... OMIM:610333
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Optic atrophy, Hepatosplenomegaly, Anemia, Facial par... OMIM:259710
Birk-Aharoni Syndrome
Macrocytic anemia, Cryptorchidism, Chorea, Inability to walk, Spastic tetraplegia, Micropenis OMIM:620071
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Genital ulcers, Chorea, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux OMIM:608971
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
Free Sialic Acid Storage Disease
Hepatomegaly, Ataxia, Proteinuria, Splenomegaly, Abnormal pyramidal sign, Abnormality of skin pig... ORPHA:834
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, High, narrow palate, Abnormal pancreas morphology ORPHA:2849
Developmental And Epileptic Encephalopathy 27
Chorea, Myoclonus, Spasticity, Dystonia OMIM:616139
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, T... ORPHA:858
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Chorea, Benign Hereditary
Chorea, Frequent falls, Gait disturbance OMIM:118700
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic move... OMIM:619738
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy OMIM:615957
Juvenile Amyotrophic Lateral Sclerosis
Clonus, Urinary incontinence, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb ... ORPHA:300605
Dystonia 23
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Dystonia, Splenomegaly, Thrombocytopenia, Optic atrophy, Chore... ORPHA:79312
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Writer's cramp, Rig... ORPHA:98759
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb a... OMIM:208920
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia OMIM:143100
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Waddling gait, Babinski sign, Pigmentary retinopathy, Spasticity OMIM:619090
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bra... ORPHA:13
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Speech apraxia, Ataxia, Waddling... OMIM:615356
Mcleod Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple... OMIM:300842
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Optic atrophy, Hypert... ORPHA:79097
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor OMIM:618876
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Splenomegaly, Jaundice, Patent ductus arterios... ORPHA:290
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Parkinsonism, Cerebellar calcifications, Chorea, Hand tremor, Athetosis OMIM:615483
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Abnormality of neuronal migration, Thrombocytopenia ORPHA:1980
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Cryptorchidism, Chorea, Unsteady gait, Progressive cerebellar ataxia, Uppe... ORPHA:485350
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ata... OMIM:616230
Epilepsy, Progressive Myoclonic, 9
Action myoclonus, Simplified gyral pattern, Gait ataxia, Myoclonus, Microglossia, Frequent falls,... OMIM:616540
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebellar atrophy, Chorea, Spastic tetraplegia, Athetosis, Cerebellar hypoplasia, Dystonia OMIM:619922
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Autosomal Recessive Spastic Paraplegia Type 15
Impaired vibratory sensation, Lower limb spasticity, Abnormal cerebellum morphology, Babinski sig... ORPHA:100996
Infantile Convulsions And Choreoathetosis
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia ORPHA:31709
Huntington Disease
Dystonia, Clonus, Involuntary movements, Oral-pharyngeal dysphagia, Rigidity, Inability to walk, ... ORPHA:399
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Gait disturbance, Dysphagia OMIM:607674
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Involuntary movements, Chorea, Athetosis, Dystonia ORPHA:98809
Spastic Paraplegia 70, Autosomal Recessive
Somatic sensory dysfunction, Ankle clonus, High palate, Fasciculations, Spasticity OMIM:620323
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Cerebral palsy, Dystonia, Microcytic anemia, Chorea, Babinski sign, Choreoathetosis, Hypertonia, ... OMIM:618451
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly, Spasticity, Ataxia, Myoclonus OMIM:612015
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... OMIM:604391
Foxg1 Syndrome
Optic disc hypoplasia, Inability to walk, Choreoathetosis, Hyperkinetic movements, Gastroesophage... ORPHA:561854
Griscelli Syndrome
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, White... ORPHA:381
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly, Dysphagia, Dystonia, Spasticity ORPHA:77260
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Pontocerebellar Hypoplasia, Type 2B
Cerebellar atrophy, Cerebellar vermis hypoplasia, Dystonia, Clonus, Chorea, Babinski sign, Simpli... OMIM:612389
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Cerebellar hypoplasia, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia OMIM:619317
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movements, Gastro... OMIM:618218
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Chorea, Dystonia OMIM:618760
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Dandy-Walker malformation, Hepatomegaly, Portal hypertension, Malform... OMIM:208540
Mccune-Albright Syndrome
Gastroesophageal reflux, Benign gastrointestinal tract tumors, Precocious puberty, Hepatitis, Ren... ORPHA:562
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Abnormal macular morphology... OMIM:607616
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Chorea, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia OMIM:301080
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... OMIM:613728
Infantile Dystonia-Parkinsonism
Cerebral palsy, Parkinsonism, Oculogyric crisis, Chorea, Abnormal pyramidal sign, Bradykinesia, H... ORPHA:238455
Huntington Disease-Like 1
Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria OMIM:603218
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Ataxia, Decreased response to growth hormone stimulation test, Cryptorchidism, Pigmentary retinop... ORPHA:3363
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism OMIM:616922
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Spastic paraparesis, Thrombocytopenia OMIM:231000
Microcephaly, Amish Type
Hypoplasia of the fovea, Hepatomegaly, Cerebellar vermis hypoplasia, Partial agenesis of the corp... OMIM:607196
Spinocerebellar Ataxia 2
Urinary incontinence, Dysmetria, Urinary bladder sphincter dysfunction, Impaired vibratory sensat... OMIM:183090
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Malabsorption, Splenome... ORPHA:79301
X-Linked Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Protruding tongue, Chorea, Torsion dystonia, Hand tremor, Focal dy... ORPHA:53351
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Dystonia, Microvesicular hepatic steatosis, Chorea, Opisthotonus, Cerebellar ... OMIM:616672
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Ataxia, Thrombocytopenia, Paraparesis, Opti... ORPHA:27
Niemann-Pick Disease Type C
Fetal ascites, Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Abnormality of th... ORPHA:646
Cln3 Disease
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Bull's eye maculopathy, Vacuolated ... ORPHA:228346
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:100025
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus OMIM:616187
Developmental And Epileptic Encephalopathy 69
Inability to walk, Spastic tetraplegia, Hyperkinetic movements, Myoclonus, Dystonia OMIM:618285
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Ataxia, Rod-cone dystrophy, Unsteady gait, Choreoathetosis, Myoclonus, Gait i... OMIM:301020
Nephronophthisis
Abnormality of retinal pigmentation, Renal insufficiency, Anemia ORPHA:655
Spinocerebellar Ataxia 47
Ataxia, Chorea, Dysmetria, High palate, Spasticity, Cerebellar vermis atrophy OMIM:617931
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Optic atrophy, Difficulty walking, Dystoni... ORPHA:401768
Optic Atrophy 11
Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetria, Athetosis, ... OMIM:617302
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dyst... OMIM:618224
Congenital Muscular Dystrophy With Intellectual Disability
Cerebellar vermis hypoplasia, Abnormality of the tongue muscle, Cryptorchidism, Poor gross motor ... ORPHA:370968
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Myoclonus, Spasticity, Retin... OMIM:256730
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Chorea, Athetosis, Abnormality of extrapyramidal motor function, Dystonia, Progressive ex... ORPHA:382
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Patent ductus arteriosus, H... OMIM:617021
Coach Syndrome 1
Cerebellar vermis hypoplasia, Multiple small medullary renal cysts, Renal cyst, Hepatic fibrosis,... OMIM:216360
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Tremor, High, narrow palate, Splenomegaly, P... OMIM:608799
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Cryptorchidism, Abnormality... OMIM:300957
Aceruloplasminemia
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... OMIM:604290
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Horsesho... ORPHA:2470
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Impaired pain sensation, Inability to walk, Chorea, Abnormal pyramidal sign, Gait ataxi... ORPHA:500180
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Seconda... OMIM:613313
Sialidosis Type 2
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Nephropathy, Ascites, Abnormal macular morphology ORPHA:87876
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Progressive Myoclonic Epilepsy With Dystonia
Abnormal pyramidal sign, Optic atrophy, Hemiparesis, Abnormality of extrapyramidal motor function... ORPHA:352596
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly, Clumsiness ORPHA:158
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Fasciculations, Difficulty walking, Hepatic steatosis OMIM:610717
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Niemann-Pick Disease, Type A
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... OMIM:257200
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Hepatomegaly, Clonus, Poor coordination, Abnormal pyramidal sign, S... OMIM:238970
Metachromatic Leukodystrophy
Ataxia, Urinary incontinence, Chorea, Babinski sign, Optic atrophy, Spastic tetraplegia, Tetraple... OMIM:250100
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Spasticity, Mic... OMIM:613861
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Optic atrophy, ... OMIM:605259
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Leigh Syndrome
Chorea, Gastrointestinal dysmotility, Choreoathetosis, Complex organic aciduria, Abnormal optic n... ORPHA:506
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Chorea, Hepatomegaly, Micronodular cirrhosis, Athetosis, Myoclo... ORPHA:404454
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations, Dysphagia ORPHA:85162
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot... OMIM:615362
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... OMIM:607346
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Chorea, Spasticity, Dystonia OMIM:613970
Classic Galactosemia
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Ataxia, Cryptorchidism, Secondar... ORPHA:79239
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Mitochondrial Dna Depletion Syndrome 17
Cerebellar atrophy, Spastic tetraparesis, Chorea, Hemiballismus, Hepatic failure OMIM:618567
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Developmental And Epileptic Encephalopathy 17
Inability to walk, Athetosis, Chorea, Dystonia OMIM:615473
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea OMIM:614055
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Ataxia, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, D... ORPHA:456312
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Loss of ambulation, Ataxia, Myoclonus OMIM:600143
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Spinocerebellar Ataxia, Autosomal Recessive 20
Cerebellar atrophy, Hepatomegaly, Ataxia, Splenomegaly, Inability to walk, Babinski sign, Oligosa... OMIM:616354
Chorea, Remitting, With Nystagmus And Cataract
Chorea OMIM:601372
Yellow Fever
Acute pancreatitis, Neutrophilia, Anuria, Elevated circulating aspartate aminotransferase concent... ORPHA:99829
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Optic nerve compression, Hepatosplenomegaly, Distal renal tubular a... OMIM:259730
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Jaundice, L... ORPHA:79477
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Chorea, Difficulty walking, Truncal a... ORPHA:369840
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Chorea, Methylmalonic aciduria, Choreoathetosis, Athetosis, Homocystinuria OMIM:309541
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom... OMIM:620010
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg... OMIM:618088
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Hemophagocytosis, Neutro... OMIM:603552
Neuroferritinopathy
Resting tremor, Dystonia, Parkinsonism, Involuntary movements, Writer's cramp, Chorea, Babinski s... ORPHA:157846
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis ORPHA:172
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubati... OMIM:607483
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Abnormal cerebellum morphology, Abnormality of extrapyramidal motor functio... OMIM:162350
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Dystonia, Action tremor OMIM:606438
Friedreich Ataxia
Dystonia, Inability to walk, Chorea, Babinski sign, Impaired proprioception, Optic atrophy, Dysme... ORPHA:95
Hyperreflexia
Ankle clonus, Abnormality of retinal pigmentation OMIM:145290
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Ritscher-Schinzel Syndrome 4
Ataxia, Cryptorchidism, Chorea, Narrow palate, Athetosis, High palate, Cerebellar hypoplasia, Dys... OMIM:619435
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Choreoathetosis, Hyperkinetic movements, Gastroesophageal reflux, Myoclonus, D... OMIM:618497
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... OMIM:606159
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Central heterochromia, Hypogonadotropic hypogonadism, Decreased response to ... OMIM:275400
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... OMIM:228300
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... OMIM:602629
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia, Myoclonus OMIM:619303
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia OMIM:602079
Metachromatic Leukodystrophy, Adult Form
Dystonia, Urinary incontinence, Chorea, Babinski sign, Optic atrophy, Clumsiness, Progressive spa... ORPHA:309271
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus ORPHA:36899
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Gait ataxia, Chor... ORPHA:225154
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Thyrocerebrorenal Syndrome
Renal insufficiency, Slurred speech, Euthyroid goiter, Myoclonus, Nonprogressive cerebellar ataxi... ORPHA:3327
Chorea, Benign Familial
Chorea OMIM:215450
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Hemiparesis, Myocl... OMIM:123400
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Gastrointestinal dysmotility, O... ORPHA:391417
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy, Spasticity, Pachygyria OMIM:617613
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Leukopenia, Hyperkin... OMIM:616271
Multiple Symmetric Lipomatosis
Hepatomegaly, Paresthesia, Gait disturbance ORPHA:2398
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Splenomegaly, Cirrhosis, Hepatic failure, Re... OMIM:613489
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Ectopic kidney, Cryptorchidism, Cerebellar hypoplasia, Spasticit... OMIM:613730
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Tremor, Hyperkinetic movements, High palat... ORPHA:457240
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, High palate, Pachygyria, Agenesis of corpus callosum, Intrahepatic biliary dysgenesis... OMIM:614866
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Spastic paraplegia, Carnos... OMIM:236130
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Tarp Syndrome
Broad-based gait, Extramedullary hematopoiesis, Cryptorchidism, Optic atrophy, Cleft palate, Hors... ORPHA:2886
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Ga... ORPHA:363400
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hypoplasia of the pons, Hand tremor, Limb ataxia, Hypoplasia of the ventral pons, Dysphag... OMIM:607596
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Ataxia, Spastic tetraplegia, Gastroesophageal reflux, Cerebellar hypoplasia, ... OMIM:619971
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria ORPHA:79238
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Spastic tetraplegia OMIM:613721
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal urinary color, Abnormal gastric mucosa morphology, Jaundice, Biliary tract... ORPHA:234
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Hypertonia, Hypogonadism, Aplasia/Hypoplasia ... ORPHA:1466
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Spinocerebellar Ataxia Type 36
Tongue atrophy, Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal a... ORPHA:276198
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,... OMIM:615491
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Dystonia, Splenomegaly, Jaundic... OMIM:251290
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, H... OMIM:602390
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Optic atrophy, Abnormality of extr... ORPHA:79279
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Leber Congenital Amaurosis 1
Hepatomegaly, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria, Atten... OMIM:204000
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Involuntary movements OMIM:616939
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i... OMIM:300635
Nasu-Hakola Disease
Chorea, Functional abnormality of the gastrointestinal tract, Acute leukemia, Oculomotor apraxia,... ORPHA:2770
Chédiak-Higashi Syndrome
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... ORPHA:167
Sydenham Chorea
Chorea, Unsteady gait, Hemiballismus ORPHA:306731
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis OMIM:613490
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ... ORPHA:284289
Pontocerebellar Hypoplasia, Type 2A
Dystonia, Hypoplasia of the pons, Chorea, Optic atrophy, Opisthotonus, Cerebellar hypoplasia, Ext... OMIM:277470
Juvenile Sialidosis Type 2
Hepatomegaly, Lower limb spasticity, Ataxia, Protruding tongue, Optic atrophy, Dysmetria, Hepatos... ORPHA:93399
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... ORPHA:100024
Joubert Syndrome With Hepatic Defect
Cerebellar vermis hypoplasia, Tremor, Chorioretinal coloboma, Aplasia/Hypoplasia of the cerebellu... ORPHA:1454
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Ataxia, Chorea, Babinski sign, Pri... OMIM:604168
Sneddon Syndrome
Tremor, Nephropathy, Chorea, Hemiparesis ORPHA:820
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Ataxia, Urinary incontinence, Cardiomegaly, Impaired ... OMIM:268800
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Megaloblastic anemia, Tremor, Opti... OMIM:222300
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Anterior hypopituitarism, Ataxia, Hemiplegia/hemiparesis ORPHA:480
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Chorea, Ataxia OMIM:618683
Immunodeficiency 48
Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells OMIM:269840
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam c... OMIM:257220
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Elevated hepatic transaminase, Renal insufficiency, Abnormal pyramidal sign, ... ORPHA:445038
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, R... OMIM:602271
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... OMIM:606777
Chediak-Higashi Syndrome
Tremor, Leukopenia, Giant neutrophil granules, Neutropenia, Hypopigmentation of the skin, Iris hy... OMIM:214500
Joubert Syndrome 33
Oculomotor apraxia, Splenomegaly, Ataxia, Cone/cone-rod dystrophy OMIM:617767
Tay-Sachs Disease
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Cherry red spot of the macula, L... ORPHA:845
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Ne... OMIM:214900
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... OMIM:619028
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hsd10 Disease, Infantile Type
Dystonia, Spastic tetraparesis, Cardiomegaly, Rod-cone dystrophy, Gastrointestinal dysmotility, P... ORPHA:391428
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Hypospadias, Ataxia, Rigidity, Cryptorchidism, Chorea,... OMIM:300260
Infantile Sialic Acid Storage Disease
Hepatomegaly, Fair hair, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, ... OMIM:269920
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Peho-Like Syndrome
Cerebellar atrophy, Pachygyria, Optic atrophy, Lissencephaly, Myoclonus, Polymicrogyria OMIM:617507
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen... ORPHA:158057
Huntington Disease-Like 3
Broad-based gait, Extrapyramidal muscular rigidity, Urinary incontinence, Chorea, Abnormal pyrami... ORPHA:157946
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... ORPHA:2924
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Hypertonia, Myoclonus, Anemia OMIM:610090
Huntington Disease-Like 3
Ataxia, Urinary incontinence, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extr... OMIM:604802
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... OMIM:613280
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia OMIM:619164
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Incoordination, Ataxia, Urinary incontinence, Abnormal pyramidal sign, Abnorm... ORPHA:309162
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cerebellar vermis hypoplasia, Splenomegaly, Chronic kidney disease, Cholestasis, He... OMIM:615630
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Hepatomegaly, Dystonia, Ataxia, Babinski sign, Optic atrophy, Dysphagia OMIM:618226
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Incoordination, Hypospadias, Ataxia, Involuntary movement... ORPHA:209905
Sialuria
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Hyperkineti... ORPHA:3166
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Opto-chiasmatic atrophy,... OMIM:620089
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Ataxia OMIM:551500
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... OMIM:278000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... OMIM:613470
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst, Colpocephaly, Decreased liver function, Pachygyria OMIM:614870
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Colitis, Hemophagocytosis, A... OMIM:613101
Sea-Blue Histiocytosis
Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue ... ORPHA:158029
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyram... OMIM:606002
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Valinemia
Valinuria, Hyperkinetic movements OMIM:277100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebellar vermis hypoplasia, Cryptorchidism, Inability to walk, Macroglossia, Pigmentary retinop... OMIM:613156
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, Narrow pala... OMIM:616505
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia OMIM:261630
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Poikilo... OMIM:615234
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Incoordination, Ataxia, Urinary incontinence, Impaired distal proprioception, Babinski sign, Abno... OMIM:616688
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Agenesis of corpus callosum, General... ORPHA:168558
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hepatic failure ORPHA:75234
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Generalized hyperpigmentation, Malabsorption, Splenomegaly, F... ORPHA:2930
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Eyelid myoclonus, Increased m... OMIM:613839
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Cerebellar h... OMIM:225753
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Agenesis of corpus callosum, General... ORPHA:289548
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Ataxia, Tremor, Optic atrophy, Choreoathetosis, High palate, Cerebellar hypoplasia, Dys... OMIM:619422
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Ataxia, Supernumerary nipple,... ORPHA:1173
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Splenomegaly, Increased urinary... ORPHA:812
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp... OMIM:301045
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Torticollis, Ataxia, Babinski sign, Choreoathetosis, Limb dystonia, Fre... OMIM:619054
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Spastic tetraparesis, Abnormal pyramidal si... ORPHA:436271
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Tremor, Hematochezia, Pigmentary ret... ORPHA:79095
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Paroxysmal dyskinesia ORPHA:79137
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Striatonigral Degeneration, Infantile
Optic atrophy, Dysphagia, Choreoathetosis, Dystonia, Spasticity OMIM:271930
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... OMIM:615631
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Cryptorc... ORPHA:3085
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysphagia, Dysdiadochokinesis, M... OMIM:614487
Pontocerebellar Hypoplasia, Type 8
Involuntary movements, Chorea, Gait ataxia, Hypertonia, Gastroesophageal reflux, Cerebellar hypop... OMIM:614961
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... ORPHA:2198
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Abnormality of neuronal migration ORPHA:2204
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... OMIM:619725
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Portal hypertension, Micronodul... ORPHA:309854
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypertonia ORPHA:99745
Refsum Disease
Abnormality of retinal pigmentation, Renal insufficiency, Ataxia, Splenomegaly, Hemiplegia/hemipa... ORPHA:773
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Dystonia, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Brady... OMIM:610217
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... ORPHA:139485
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Dysphagia, Spastic dysarthria, Dysdiadochokinesi... ORPHA:313772
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Tremor, Splenomegaly, Jaundice, Neutropenia in prese... ORPHA:525731
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Ataxia, Babinski sign, Optic atrophy, Pigmentary retinopathy, Myoclonus, Truncal ataxia... OMIM:252011
Abetalipoproteinemia
Cardiomegaly, Impaired distal proprioception, Impaired proprioception, Dysmetria, Gait ataxia, St... ORPHA:14
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Oral-pharyngeal dy... ORPHA:2524
Machado-Joseph Disease
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Dystonia, Ataxia, Par... OMIM:109150
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia... OMIM:617854
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Involuntary movements, Ectopic kidney, Cryptorchidism, Inability to walk, Patchy hyp... ORPHA:3063
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Spasticity OMIM:617829
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Thyrocerebroretinal Syndrome
Ataxia, Slurred speech, Myoclonus, Nephritis, Thrombocytopenia, Goiter OMIM:274240
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Malabsorption, Lymphadenopathy ORPHA:42642
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Dpm1-Cdg
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Ataxia, External genital hypopla... ORPHA:79322
Leigh Syndrome
Ataxia, Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy, Dystonia, Spasticity OMIM:256000
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Pancytopenia, Hypergonadotropic hypogonadism, Ataxia, Recurrent myoglobinuria... OMIM:607426
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Dystonia, Parkinsonism, Urinary incontinence, Chorea, Babinski sign, Titubation, ... ORPHA:225147
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i... ORPHA:397596
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Myoclonus, Retinal degeneration OMIM:204500
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Inability to walk, Chorea, Hemiparesis, Cerebellar hypoplasia, Dystonia, Lim... OMIM:618004
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S... OMIM:602347
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Microcytic anemia, Elevated circulating alanine aminotransferase ... OMIM:618805
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s... ORPHA:96
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Abnormal lateral ventricle morphology, Decreased respo... ORPHA:1855
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia OMIM:614820
Narp Syndrome
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ba... ORPHA:644
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Dystonia, Ataxia, Rod-cone dystrophy, Chorea, Optic atrophy, Lacticaciduria, Gait a... ORPHA:255210
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom... OMIM:235200
Developmental And Epileptic Encephalopathy 16
Optic atrophy, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dystonia OMIM:615338
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Urinary incontinence, Myoclonus, U... ORPHA:306511
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Hypopigmented skin patches, Lymphadenopathy, Irregular hyperpigmentat... ORPHA:2584
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Choreoacanthocytosis
Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impaired vibratory sen... ORPHA:2388
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Elevated urinary 4-hydroxybutyric acid, Ataxia, Increased level of gamma-amin... OMIM:271980
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... OMIM:618060
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Aicardi-Goutieres Syndrome 9
Hypertonia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Port... OMIM:619487
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Pigmentary retinopathy, Macrovesicular hepatic steatosis OMIM:618234
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Ataxia, Polyuria, Mottled pigmentation of photoexposed areas, Pigmentary retinopath... OMIM:560000
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Ascites, Steatorrhea, Hepat... ORPHA:75233
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul... OMIM:232220
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Decreased liver function, Dystonia OMIM:246900
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Pancytopenia, Abnormal cortical ... OMIM:614576
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Optic atrophy, Renal tubular dysfunction, P... OMIM:220110
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar atax... ORPHA:254881
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Fgfr2-Related Bent Bone Dysplasia
Congenital stationary night blindness, Extramedullary hematopoiesis, Clitoral hypertrophy, Hepato... ORPHA:313855
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Poor motor coordination, Parkinsonism, Clumsiness, Poor fi... ORPHA:79264
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Sézary Syndrome
Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Irregular hyperpigmentation, Abnormal lympho... ORPHA:3162
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Mevalonic Aciduria
Splenomegaly, Ataxia ORPHA:29
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Rigidity, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Myoc... OMIM:618241
Spinocerebellar Ataxia 36
Cerebellar atrophy, Tongue atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait atax... OMIM:614153
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Abnormality of the liver, Optic atrophy, Abnormality of neur... ORPHA:44
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Megaloblastic anemia, Methylmalonic aciduria, Hyperkinetic movements, Hyperton... OMIM:236270
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Brucellosis
Abnormality of the gastrointestinal tract, Hepatomegaly, Liver abscess, Lung abscess, Glomerulone... ORPHA:1304
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Hypoplasia of the pons, Spasticity, Choreoathetosis, Dystonia OMIM:614249
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Ataxia, Gastroesophageal reflux, Progressive spasticity ORPHA:251009
3-Methylglutaconic Aciduria Type 3
Ataxia, Choreoathetosis, 3-Methylglutaconic aciduria, Gait disturbance, Spastic paraparesis ORPHA:67047
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males, Progressive spastic paraplegia ORPHA:2826
Joubert Syndrome 3
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ataxia, Retinal dystrophy, Stage 5 chronic ... OMIM:608629
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the cerebellar vermis, Hemiplegia/hemi... ORPHA:65
Chromosome 18Q Deletion Syndrome
Broad-based gait, Hypospadias, Decreased response to growth hormone stimulation test, Tremor, Cry... OMIM:601808
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Ataxia, Babinski sign, Cleft palate, Dysmetria, Glossoptosis, Dysdiadochokine... OMIM:618356
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dysphagia, Limb hypertonia OMIM:233910
Jeune Syndrome
Abnormality of retinal pigmentation, Renal insufficiency, Abnormality of the liver, Nephronophthi... ORPHA:474
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna... OMIM:601346
Babesiosis
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Splenomegaly, Jaundice, Leukopenia, Hepatic ... ORPHA:108
Pontocerebellar Hypoplasia, Type 7
Ataxia, Hypoplasia of the pons, Cryptorchidism, Oculomotor apraxia, Spastic paraplegia, Optic atr... OMIM:614969
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cerebellar vermis hypoplasia, Cryptorch... ORPHA:2510
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Myoclonus, Hand tremor OMIM:608105
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, ... OMIM:618321
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cerebellar atrophy, Ataxia, Involuntary movements, Protruding tongue, Inability to walk, Chorea, ... OMIM:617804
Feingold Syndrome
Abnormality of the spleen, Patent ductus arteriosus, Esophageal atresia, Annular pancreas, Duoden... ORPHA:1305
Developmental And Epileptic Encephalopathy 78
Inability to walk, Chorea, Cerebral palsy, Spasticity OMIM:618557
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Hyperpigmentation of the skin, Anemia ORPHA:75563
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Reduced natural ... OMIM:609981
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus OMIM:612016
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia ORPHA:1046
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Hypertonia, High palate, Thr... ORPHA:85212
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc... OMIM:612714
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Broad-based gait, Ataxia, Urinary incontinence, Impaired... OMIM:609033
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Neurogenic bladder, Intestinal pseudo-obstruction, Involuntary movements, Abn... OMIM:619780
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... OMIM:615710
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal pyramidal sign, Pigmentary retinopathy, High palate, Gait imbalance, Dysphagia, Loss of ... ORPHA:329336
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Chorea, Bilateral cleft lip and palate, Hemiparesis, Gastroesophage... OMIM:618829
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Chorea, High palate, Spasticity OMIM:620149
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Gastroesophageal reflux, ... ORPHA:779
Holoprosencephaly
Hypoplasia of penis, Median cleft lip and palate, Proteinuria, Retinopathy, Cryptorchidism, Abnor... ORPHA:2162
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:602782
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Cerebellar calcifications, Splenomegaly, I... OMIM:225750
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Hepatomegaly, Ataxia, Spastic paraplegia, Optic atrophy, Renal hypoplasia, Te... ORPHA:254913
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Patent ductus arteriosus, Bi... OMIM:267010
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Ataxia, Chorea, Ileus, Athetosis, Hypertonia, Dystonia ORPHA:52503
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Optic atrophy, Hypermelanotic macule, Myoclonus OMIM:609056
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal pyramidal sign, Spas... ORPHA:816
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Allan-Herndon-Dudley Syndrome
Dystonia, Ataxia, Cryptorchidism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia, Ch... ORPHA:59
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Hepatomegaly, Pancreatic fibrosis, Ataxia, Steatorrhea, Dysmetria, Hepatic fi... OMIM:616263
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Pancreatic steatosis, C... OMIM:617052
Continuous Spikes And Waves During Sleep
Speech apraxia, Dystonia, Hyperkinetic movements, Clumsiness ORPHA:725
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Mevalonic Aciduria
Cerebellar atrophy, Elevated hepatic transaminase, Normocytic hypoplastic anemia, Agenesis of cer... OMIM:610377
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Patent ductus arteriosu... OMIM:620327
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Pain insensitivity, Involuntary movements, Oral-phar... OMIM:615273
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Babinski sign, Optic atrophy, Gait ataxia, Choreoathetosis, Dysdiadochokinesis... ORPHA:98890
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Hemiplegia, Abnormality of retinal pigmentation, Furrowed tongue ORPHA:2743
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy, Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Reduced renal corticome... OMIM:618541
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Progressive truncal ataxia, Optic atrophy, Progressive cerebellar ataxia, Chi... ORPHA:263516
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Ataxia, Protruding tongue, Optic atrophy, Dysmetria, Hepat... ORPHA:93400
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... OMIM:610199
Hurler-Scheie Syndrome
Splenomegaly, Hepatomegaly, Abnormal pyramidal sign, Abnormality of the tonsils ORPHA:93476
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Steppage gait, Fasciculations, Distal sensory impairment OMIM:606595
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Patent ductus arteri... ORPHA:210122
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Splenomegaly, Cleft palate, Leukopenia, Lymphopenia OMIM:620210
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Leukodystrophy, Hypomyelinating, 16
Optic disc pallor, Broad-based gait, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathet... OMIM:617964
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, O... ORPHA:791
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Ataxia, Protruding tongue, Splenomegaly, Patent ductus arteriosus, Optic atrophy, S... OMIM:230600
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Anal fissure, Perianal abscess, Splenomegaly, Lymp... OMIM:618935
Oculopharyngodistal Myopathy 3
Tremor, Pigmentary retinopathy, Ataxia, Dysphagia OMIM:619473
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Thrombocytopenia, E... OMIM:227646
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi... ORPHA:83469
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Optic atrophy, Tetraplegia, Choreoathetosis, ... OMIM:616034
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Loss of ability to walk in early childhood, Microcytic anemia, Inability to walk, Methylmalonic a... OMIM:612073
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Loss of ability to walk in early childhood, Babinski sign, Optic atrophy, Spastic diplegi... ORPHA:401866
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... ORPHA:254343
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fancon... OMIM:557000
Hemochromatosis, Type 4
Hepatomegaly, Hyperpigmentation of the skin, Impotence, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Optic disc pallor, Torticollis, Urinary incontinence, Impaired distal vibrati... ORPHA:98768
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non... OMIM:603909
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Developmental And Epileptic Encephalopathy 40
Choreoathetosis, Spasticity, Myoclonus, Spastic tetraparesis OMIM:617065
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Niemann-Pick Disease, Type C2
Hepatomegaly, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dy... OMIM:607625
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... OMIM:209950
Aicardi Syndrome
Intestinal polyposis, Abnormality of retinal pigmentation, Retinal detachment, Hepatoblastoma, Hi... ORPHA:50
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Cyanosis, Transient Neonatal
Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Intestinal obstruction, Gastr... ORPHA:131
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Brushfield spots, Cryptorchidism, Jaundice, Optic ... OMIM:214110
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Premature ovarian insufficiency, Female hypogonadism, Chr... OMIM:240300
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto... OMIM:612438
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Primary amenorrhea, Dysmetria, Limb ataxia, Pigmentary retinop... OMIM:617675
Glutaryl-Coa Dehydrogenase Deficiency
Limb dystonia, Dystonia, Poor motor coordination, Ataxia, Tremor, Rigidity, Chorea, Glutaric acid... ORPHA:25
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Lower limb spasticity, Renal insufficiency, Ataxia, ... ORPHA:90321
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements ORPHA:397933
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Ataxia, Urinary incontinence, Retinal dystrophy, Unsteady g... ORPHA:464282
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Cog5-Cdg
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Neurogenic bladder, Urinary inco... ORPHA:263487
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Chorea, Xerostomia, Leukopenia, Tubulointerstitial n... ORPHA:289390
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Spastic tetraparesis, Babinski sign, Vesicoureteral reflux, Pigmentary retinopathy, Lower... ORPHA:3208
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Cerebellar vermis hypoplasia, Tremor, Dysmetria, Renal cyst, Hepatic fibrosis, H... OMIM:212065
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Generalized hyperpigmentation, Ataxia, Malabsorption, ... ORPHA:3452
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Re... ORPHA:93111
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Choreoathetosis, Progressive spastic quadriplegia, Renal tubular acidosis, Or... ORPHA:431361
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Ataxia, Myoclonus OMIM:545000
Joubert Syndrome 8
Hepatomegaly, Optic disc pallor, Ataxia, Pigmentary retinopathy, Hypertonia, Prolonged neonatal j... OMIM:612291
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Rod-cone dystrophy, Inability to walk, Opisthotonus, Pig... ORPHA:216866
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Spleni... OMIM:603903
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Anisocytosis, Dysplastic corpus callosum, Renal hypoplasia, Lacticaciduria, Aminoac... OMIM:604273
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretin... ORPHA:5
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H... OMIM:615122
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hepatic failure, Pyloric stenosis ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Dystonia, Tremor, Sple... OMIM:615512
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Fasciculations, Difficulty walking OMIM:615575
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Lower limb spasticity, Broad-based gait, Babinski sign, Steppage gait, Tip-toe gai... OMIM:615290
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Leukocytosis, Distal sensory impairment, Choreoathetosis, St... ORPHA:206594
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Tremor, Primary amenorrhea, Dysmetria, Pigmentary... ORPHA:502423
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Portal fibrosis, Hepatic fibrosis, Cirr... ORPHA:369
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Joubert Syndrome 37
Hepatomegaly, Cerebellar vermis hypoplasia, Cryptorchidism, Hydronephrosis, High palate, Oculomot... OMIM:619185
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... OMIM:133190
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Patent ductus arteriosus, Anemia, Ascites, Abnormal vagina mor... ORPHA:2123
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... OMIM:619644
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Hand tremor ORPHA:86814
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... ORPHA:442835
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Choreoathetosis, Limb dystonia, Loss of ambulation, Retinal degeneration,... ORPHA:157850
Pontocerebellar Hypoplasia Type 4
Hypertonia, Myoclonus, Olivopontocerebellar hypoplasia ORPHA:166063
Vici Syndrome
Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypoplasia of the pons, Optic ... ORPHA:1493
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function OMIM:204300
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Nephropathy, Decre... ORPHA:85450
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ... OMIM:611490
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity OMIM:616494
Maternal Uniparental Disomy Of Chromosome 4
Impaired vibratory sensation, Neurogenic bladder, Ataxia, Acanthocytosis, Abnormal erythrocyte mo... ORPHA:96180
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... ORPHA:79124
Wilson Disease
Acute hepatic failure, Tremor, Hand tremor, Aminoaciduria, Limb dystonia, Hepatic steatosis, Hypo... OMIM:277900
Multiple Sulfatase Deficiency
Cerebellar atrophy, Hepatomegaly, Ataxia, Splenomegaly, Mucopolysacchariduria, Spasticity, Retina... OMIM:272200
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Spastic tetraplegia, Choreoathetosis, Dystonia, Spasticity, Agenesis of corpus cal... OMIM:618238
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormality of retinal pigmentation, Papilledema, Intestinal pseudo-obstruction, He... OMIM:309900
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Neurogenic bladder, Dystonia, Hypoplasia of the pons, Optic atrophy, Sim... OMIM:617669
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Head titubation... OMIM:312080
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Abnormal pyramidal sign, ... OMIM:248500
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Progressive spastic quadriplegia, ... ORPHA:309246
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Leber Congenital Amaurosis 2
Optic disc pallor, Cerebellar vermis hypoplasia, Fundus atrophy, Absent foveal reflex, Pigmentary... OMIM:204100
Developmental And Epileptic Encephalopathy 72
Inability to walk, Hyperkinetic movements, Dysphagia OMIM:618374
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Tremor, Hypogonadism, Myoclonus, Abnormality of macular pigmentation, ... ORPHA:97229
Cockayne Syndrome
Urinary incontinence, Progressive gait ataxia, Hypertonia, Gastroesophageal reflux, Retinal arter... ORPHA:191
Dextrocardia
Meckel diverticulum, Intestinal malrotation, Abnormal reproductive system morphology, Abnormality... ORPHA:1666
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Lateral ventricle d... OMIM:619517
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... OMIM:618598
Pyruvate Carboxylase Deficiency
Hepatomegaly, Athetosis, Proximal renal tubular acidosis, Clonus OMIM:266150
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Tongue fasciculations, Myoclonus, Dysphagia, Difficulty walking, Frequent falls OMIM:159950
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Hepatomegaly, Ataxia, Postural tremor, Splenomegaly, Micronodular cirrhosis, ... OMIM:301072
Mitochondrial Dna Depletion Syndrome 19
Hypospadias, Microcytic anemia, Hydrocele testis, Myoclonus, Tetraparesis, Spasticity OMIM:618972
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Dystonia OMIM:619065
Pancreatic And Cerebellar Agenesis
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Cerebellar hypoplasia, Cerebellar agenesis... OMIM:609069
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Hypertonia, Limb tremor, Myoclonus OMIM:300699
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Aminoaciduria, High palate, Loss of ambulation, Intrahepatic biliary dysgene... OMIM:214100
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Hypertonia, Heterochro... ORPHA:1390
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
3-Methylglutaconic Aciduria, Type Ix
Clonus, Urinary incontinence, Optic atrophy, Choreoathetosis, 3-Methylglutaric aciduria, Hyperton... OMIM:617698
Multiple Sulfatase Deficiency
Hepatomegaly, Abnormality of retinal pigmentation, Splenomegaly, Optic atrophy, Mucopolysaccharid... ORPHA:585
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Prostatitis, Enlarged l... ORPHA:449432
Ring Chromosome 14 Syndrome
Pigmentary retinopathy, High palate OMIM:616606
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Dystonia, Tremor, Inability to walk, Optic atrophy, Horseshoe kidney, Choreoa... OMIM:617664
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Abnormal pyramidal sign, Simplified gyral pattern, Hypertonia, Microphall... ORPHA:468631
Microtriplication 11Q24.1
Retrocerebellar cyst, Hyperkinetic movements, Speech apraxia, Cleft palate ORPHA:289522
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly, Myoclonus, Cherry red spot of the macula, Spast... ORPHA:309155
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:79084
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... ORPHA:564
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Steatorrhea, High palate, Neutropenia, Hyperechogenic pancreas, ... OMIM:617941
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Ataxia, Urinary incontinence, Myoclonus, Dystonia, Spasticity, Pachygyria OMIM:620094
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Abnormality of retinal pigmentation ORPHA:2515
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen... OMIM:616100
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... ORPHA:436159
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... OMIM:266200
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia OMIM:211890
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Cerebral palsy, Clonus, Cryptorchidism, Babinski sign, Spastic tetraplegia, Spasti... OMIM:619847
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Dystonia, Lacticaciduria, Choreoathetosis, Dysphagia, Rod-cone dystrophy, Lim... OMIM:618247
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Pigmentary retinopathy, Microglossia, Ascites OMIM:253250
Alveolar Echinococcosis
Liver abscess, Ataxia, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal... ORPHA:284
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Head titubation, Dysmetria, Aminoaciduria, Myoclonus, Truncal ataxia, Agenesis ... OMIM:250620
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypogonadism, Decreased testicular size OMIM:201100
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Hypermelanotic macule, Abnormality of neutrophils, Malabsorption, Sp... ORPHA:379
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Decreased fertility, Fasciculations, Dysphagia, Testicular atrophy OMIM:313200
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Anemia, Reduced natural killer cell c... OMIM:616050
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Urinary incontin... ORPHA:88644
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Proteinuria, Elevated circulating aspartate aminotransferase conc... OMIM:614034
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si... OMIM:606693
Laurence-Moon Syndrome
Small scrotum, Ataxia, Spastic paraplegia, Chorioretinal atrophy, Pigmentary retinopathy, Micropenis OMIM:245800
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Renal insufficiency, Proteinuria, Abnormal retinal vascular ... ORPHA:2715
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Alexander Disease
Ataxia, Clonus, Precocious puberty, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, High pa... ORPHA:58
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Hyperkinetic movements, Difficulty walking, Truncal ataxia ORPHA:369847
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Jaundice, Thromb... OMIM:603553
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Polycythe... ORPHA:116
Ataxia-Telangiectasia
Dystonia, Female hypogonadism, Ataxia, Tremor, Inability to walk, Slurred speech, Abnormal sperma... OMIM:208900
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... OMIM:301082
Amish Lethal Microcephaly
Hepatomegaly, Cerebellar vermis hypoplasia, Cleft soft palate, Optic atrophy, Organic aciduria, L... ORPHA:99742
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, 3-Methylglutaric acid... OMIM:246450
Farber Lipogranulomatosis
Splenomegaly, Hepatomegaly, Cherry red spot of the macula, Lipogranulomatosis OMIM:228000
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
D-Glyceric Aciduria
Chorea, Hyperglycinuria, Myoclonus, Spasticity ORPHA:941
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Thrombocytopenia, Patent ductus... OMIM:606003
Hemimegalencephaly
Pachygyria, Optic atrophy, Hemiparesis, Gray matter heterotopia, Myoclonus, Polymicrogyria ORPHA:99802
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Thrombocytopenia, Tetraplegia, Lymphadenopathy, Leu... OMIM:267700
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Ataxia, Truncal titubation, Gastrointestinal dysmotility... ORPHA:88628
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Dysplastic corpus callosum, Spasticity, Hydrocele testis, Cerebellar hypoplasia, Mi... OMIM:618810
Immunodeficiency, Common Variable, 2
Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Macrocephaly/Autism Syndrome
Speech apraxia, Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, High palate, Lymp... OMIM:605309
Neurodegeneration With Brain Iron Accumulation 1
Urinary incontinence, Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eye... OMIM:234200
Bohring-Opitz Syndrome
Bilateral cleft palate, Intestinal malrotation, Supernumerary nipple, Narrow palate, Gray matter ... OMIM:605039
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Head titubation, Inability to wal... OMIM:618877
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Secondary amen... OMIM:268020
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Chorea, Spastic tetraple... OMIM:617864
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Arima Syndrome
Cerebellar vermis hypoplasia, Hepatic fibrosis, Nephronophthisis, Chorioretinal coloboma, Hepatic... OMIM:243910
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... ORPHA:64
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Dystonia, Tremor, Splenomegaly, Patent ductus arteriosus, Abnormal ... ORPHA:354
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Developmental And Epileptic Encephalopathy 1
Dystonia, Spastic tetraparesis, Abnormal pyramidal sign, Dysphagia, Choreoathetosis, Hypertonia, ... OMIM:308350
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, White eyelashes, Aganglionic megacolon, White eyebrow, Short-segment aganglionic meg... OMIM:609136
Developmental And Epileptic Encephalopathy 84
Chorea, Babinski sign, Opisthotonus, Dystonia, Spasticity OMIM:618792
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Propionic Acidemia
Hepatomegaly, Pancytopenia, Dystonia, Increased level of hippuric acid in urine, Hyperglycinuria,... OMIM:606054
Glycine Encephalopathy 1
Hyperglycinuria, Agenesis of corpus callosum, Myoclonus OMIM:605899
Pandas
Enuresis, Chorea, Clumsiness ORPHA:66624
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria OMIM:619191
Melas
Hypoparathyroidism, Abnormal central motor function, Hypogonadotropic hypogonadism, Intestinal ps... ORPHA:550
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl... ORPHA:398124
Phosphoserine Aminotransferase Deficiency
Hypertonia, Cerebellar vermis hypoplasia, Myoclonus OMIM:610992
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Mixed hypo- and hyperpigmentation of the skin, Abnorma... ORPHA:79456
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia, Ataxia OMIM:619046
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... ORPHA:53583
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Agenesis of corpus callosum OMIM:312170
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Intestinal obstruction, Hypopigmentation of hair, Aganglioni... ORPHA:897
Glutaric Acidemia I
Hepatomegaly, Ketonuria, Rigidity, Glutaric aciduria, Spastic diplegia, Opisthotonus, Choreoathet... OMIM:231670
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Desmosterolosis
Intestinal malrotation, Abnormal cortical gyration, Rigidity, Splenomegaly, Patent ductus arterio... ORPHA:35107
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hypospad... OMIM:613673
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, R... OMIM:263520
Galactosemia I
Hepatomegaly, Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... OMIM:230400
Hereditary Hyperekplexia
Ataxia, Hiatus hernia, Rigidity, Hypertonia, Gastroesophageal reflux, Myoclonus, Esophagitis, Fas... ORPHA:3197
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, St... OMIM:235555
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Renal insufficiency, Cerebral palsy, Ataxia, Proteinuria, Splenomegaly, Hemiplegia/... ORPHA:36412
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Thrombocytopenia, Patent ductus arteriosus, Cholestasis, Protein-lo... OMIM:608104
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Pyloric stenosis, Optic atrophy, Spasticity, Clitoral hypoplasia, Ma... OMIM:147791
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Somatic sensory dysfunction, Steppage gait, Fasciculations, Impaired distal tactile sensation OMIM:600882
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Ataxia, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Spa... OMIM:614299
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dysp... OMIM:261640
Frontotemporal Dementia With Motor Neuron Disease
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Abnorma... ORPHA:275872
Adams-Oliver Syndrome 6
Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia, Hepatic fibrosis OMIM:616589
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Pigmentary retinopathy, Nephro... ORPHA:110
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb... ORPHA:158061
Developmental And Epileptic Encephalopathy 109
Gait ataxia, Crouch gait, Myoclonus, Left ventricular hypertrophy, Spasticity OMIM:620145
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Patent ductus arteriosus, Gray matter heterotopia, L... OMIM:617397
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Tremor, ... OMIM:613179
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Aganglionic megacolon, Ataxia, Retinal dystrophy, Hypera... OMIM:209900
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Spl... ORPHA:91138
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Renal insufficiency, Ataxia, Abnorm... ORPHA:33226
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Tongue atrophy, Somatic sensory dysfunction, Urinary incontinence, ... ORPHA:101085
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Dystonia, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Partial ag... OMIM:619653
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Neurogenic bladder, Paroxysmal dystonia, Weakness due to upper motor neuro... ORPHA:466722
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Hypoplasia of the thymu... OMIM:300400
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... ORPHA:2137
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Thrombocytopenia, Copper accumulation in liver, Aminoaciduria, Myoclonus, Ele... OMIM:614946
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Catastrophic Antiphospholipid Syndrome
Chorea, Retinal arterial occlusion, Coombs-positive hemolytic anemia, Gastrointestinal infarction... ORPHA:464343
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Sialuria
Hepatomegaly, Splenomegaly, Poor fine motor coordination, Macroglossia, High palate, Hypoplastic ... OMIM:269921
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Spasticity, Babinski sign, Abnormal pyramidal sign ORPHA:397951
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... OMIM:150550
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Ma... OMIM:613496
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Cold Agglutinin Disease
Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Anemia ORPHA:28
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis,... ORPHA:1451
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Ataxia, Retinal dystrophy, Steatorrhea, Rod-cone dystrophy OMIM:266510
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Pontocerebellar Hypoplasia, Type 1D
Cerebellar atrophy, Oral-pharyngeal dysphagia, High palate, Tongue fasciculations, Fasciculations... OMIM:618065
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Dystonia, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal... ORPHA:64753
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Spl... ORPHA:264580
Cockayne Syndrome A
Cerebellar atrophy, Hepatomegaly, Renal insufficiency, Retinal atrophy, Ataxia, Proteinuria, Trem... OMIM:216400
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadeno... ORPHA:540
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Decreased response to growth ho... OMIM:216550
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Hypopigmentation of hair, Aganglionic megacolon, Ataxia, Splenomegaly, Ileus, Abnor... ORPHA:163746
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cerebellar atrophy, Abnormality of retinal pigmentation, Tongue atrophy, Impaired vibratory sensa... ORPHA:466768
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatic steatosis, Hepatomegaly, Macular atrophy, Microvesicular hepatic steato... OMIM:619418
Kearns-Sayre Syndrome
Hypoparathyroidism, Sideroblastic anemia, Ataxia, Pigmentary retinopathy, Renal tubular acidosis,... OMIM:530000
Oculorenocerebellar Syndrome
Spastic diplegia, Choreoathetosis, Glomerular sclerosis, Nephropathy, Retinal degeneration OMIM:257970
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Spastic tetraparesis, Simplified gyral pattern, Lateral ventricle d... ORPHA:284417
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations, Fasciculations, Dysphagia, Loss of ambulation OMIM:613435
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Patent ductus arteriosus, Optic atroph... OMIM:617303
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Acu... ORPHA:99812
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Abnormal chorioretinal morphology, Malab... ORPHA:912
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Spastic tetraparesis... OMIM:614924
Desmoid Tumor
Intestinal polyposis, Abnormality of retinal pigmentation, Intestinal obstruction, Gastrointestin... ORPHA:873
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pigmentary retinopathy, High palate... OMIM:600462
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Patent ductus arteriosus, Gastro... OMIM:164280
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... OMIM:235700
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hepatomegaly, Ascites, Gastroesophageal reflux ORPHA:2414
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Renal insufficiency, Postural tremor, Proteinuria, Action tremor, Unsteady ga... OMIM:254900
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Hepatic st... OMIM:615438
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Hypertonia, High palate, Retinal fold OMIM:108145
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly... OMIM:235255
Infantile Refsum Disease
Hepatomegaly, Ataxia, Optic atrophy, Spasticity, Rod-cone dystrophy ORPHA:772
Senior-Loken Syndrome 8
Global glomerulosclerosis, Retinal dystrophy, Macular atrophy, Pancreatic cysts, Rod-cone dystrop... OMIM:616307
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Neurogenic bladder, Dystonia, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Vo... ORPHA:500144
Galactokinase Deficiency
Speech apraxia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, He... ORPHA:79237
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hyperpigmentation of the skin, Macular atrophy, Hypersplenism, Spleno... OMIM:230800
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Inability to walk, Fasciculations ORPHA:206546
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Hepatic failure, Pulmona... ORPHA:1655
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Abnormal mitochondrial shape, Hypospadias, Dystonia,... ORPHA:17
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Hypospadias, Spastic tetraparesis, Hypoplasia of the pons, Cryptorc... OMIM:616975
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Optic disc pallor, Ketonuria, Ataxia, Lacticaciduria, Myoclonus, Dystonia, Left ven... OMIM:619167
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Hypertonia, Hepatic steatosis, Hepatomegaly, Hem... OMIM:615846
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... ORPHA:3202
Prolidase Deficiency
Splenomegaly, Hepatomegaly, White forelock, Abnormality of retinal pigmentation ORPHA:742
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Biotinidase Deficiency
Hepatomegaly, Ataxia, Splenomegaly, Optic atrophy, Organic aciduria, Diffuse cerebellar atrophy OMIM:253260
Hyperekplexia 4
Hypertonia, High palate, Myoclonus OMIM:618011
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Spasticity, Polymicrogyria, Opisthotonus OMIM:610678
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Microvesicular hepat... OMIM:618278
Machado-Joseph Disease Type 1
Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Dystonia, Facial-lingual fascic... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Dystonia, Facial-lingual fascic... ORPHA:276241
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia... ORPHA:158048
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Hemolytic anemia, Ataxia, Splenomegaly, Jaundice, Inability to walk, Stomatocytosis... OMIM:608885
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... OMIM:276700
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Leukodystrophy, Hypomyelinating, 2
Dystonia, Ataxia, Rigidity, Head titubation, Babinski sign, Optic atrophy, Choreoathetosis, Progr... OMIM:608804
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Joubert Syndrome 28
Oculomotor apraxia, Pigmentary retinopathy, Ataxia, Optic disc pallor OMIM:617121
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Crohn's diseas... OMIM:618394
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph... ORPHA:1606
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:306000
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Periventricular heterotopia, Retinal pigment epithelial m... OMIM:614105
Rett Syndrome, Congenital Variant
Dystonia, Chorea, Simplified gyral pattern, Athetosis, Gastroesophageal reflux, Apraxia, Spastici... OMIM:613454
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno... ORPHA:39041
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease... OMIM:614922
Developmental And Epileptic Encephalopathy 23
Hypoplasia of the pons, Myoclonus OMIM:615859
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Aganglionic megacolo... OMIM:229850
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Dystonia, Ataxia, Oral-pharyngeal dysphagia, Tremor, R... ORPHA:2131
Cockayne Syndrome Type 2
Hepatomegaly, Lower limb spasticity, Ataxia, Hypermelanotic macule, Cryptorchidism, Gait disturba... ORPHA:90322
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Proteinuria, Urinary incontinenc... ORPHA:94093
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic syst... ORPHA:464329
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platel... ORPHA:46059
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Felty Syndrome
Hepatomegaly, Generalized hyperpigmentation, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bon... ORPHA:47612
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Cryptorchidism,... ORPHA:261265
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Waddling gait, Hepatomegaly, Ketonuria, Microcytic anemia, Myoglobinuria, Optic atrophy, Macroglo... OMIM:251900
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Babinski sign, Cholestasis, Pigmentary retinopathy, Tip-toe gait, Left ventri... ORPHA:746
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of neuronal migration, Hypertonia... ORPHA:2518
Legionnaires Disease
Renal insufficiency, Ataxia, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Hem... ORPHA:549
Familial Glucocorticoid Deficiency
Generalized hyperpigmentation, Renal salt wasting, Precocious puberty, Cryptorchidism, Testicular... ORPHA:361
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Lower limb spasticity, Babinski sign, Ankle clonus, Fasciculations, Tetraparesis, Dysphagia, Diff... OMIM:613954
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia,... ORPHA:333
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Protein-losing... OMIM:602579
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer... ORPHA:98849
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Cerebral palsy, Myoclonus OMIM:617600
Mody
Elevated hemoglobin A1c, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy, Pancreatic ... ORPHA:552
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations OMIM:271200
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Hypertonia, Gastroesophageal reflux ORPHA:141
Early Myoclonic Encephalopathy
Myoclonus, Dysphagia ORPHA:1935
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Ataxia, Inability to walk, Cleft palate, Spasticity, Hypertonia, Gait imbalance, Annular pancreas... ORPHA:488642
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Majeed Syndrome
Hepatomegaly, Proteinuria, Congenital hypoplastic anemia, Malabsorption, Splenomegaly, Leukocytos... ORPHA:77297
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus OMIM:619092
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Dysmenorrhea, Splenomegaly, Primary amenorrhea, Polycystic ovaries, Secondary ameno... ORPHA:79083
Mucopolysaccharidosis Type 3
Adenoiditis, Cardiomegaly, Abnormal pyramidal sign, Hypertonia, Loss of ambulation, Retinal degen... ORPHA:581
Tangier Disease
Hepatomegaly, Impaired pain sensation, Impaired temperature sensation, Splenomegaly, Left ventric... OMIM:205400
Developmental And Epileptic Encephalopathy 29
Blepharospasm, Chorea, Spasticity, Limb dystonia OMIM:616339
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Gaucher Disease, Type Ii
Hepatomegaly, Rigidity, Splenomegaly, Anemia, Hypertonia, Gastroesophageal reflux, Dysphagia, Ocu... OMIM:230900
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Vocal cord pa... ORPHA:64744
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Thrombocyto... ORPHA:505248
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Atelosteogenesis Type I
Malrotation of colon, Cleft palate, Multiple renal cysts, Retinal dysplasia, Abnormal pancreatic ... ORPHA:1190
Scheie Syndrome
Hepatomegaly, Cerebral palsy, Splenomegaly, Mucopolysacchariduria, Spastic paraparesis ORPHA:93474
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia OMIM:614979
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur... OMIM:170100
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Atro... OMIM:614700
Rheumatic Fever
Chorea, Nephrotic syndrome, Gait disturbance, Hemiballismus, Fasciculations ORPHA:3099
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Spasticity, Hypochromic microcytic anemia, Hepatomegaly OMIM:619423
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium, Supernumer... ORPHA:1433
Argininemia
Cerebellar atrophy, Hepatomegaly, Micronodular cirrhosis, Oroticaciduria, Cholestasis, Progressiv... OMIM:207800
Triploidy
Hepatomegaly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Abnormali... ORPHA:3376
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Spastic hemip... ORPHA:20
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Oromandibular Dystonia
Torticollis, Generalized dystonia, Dysphagia, Blepharospasm, Hyperkinetic movements, Limb dystoni... ORPHA:93958
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat... OMIM:607361
Cog8-Cdg
Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Protein-losing enteropathy, Myoclonus ORPHA:95428
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Ataxia, Urinary incontinence, Loss of ability to walk in first decade, Trunca... OMIM:300243
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... ORPHA:30391
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Incoordination, Homocystinuria, Megaloblastic anemia, Cystathioninuri... OMIM:277380
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg... ORPHA:829
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Optic atrophy, Anemia, Facial paralysis, Thrombocytopenia OMIM:259700
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Hypopigmentation of hair, Gastritis, Increased mean platelet volum... ORPHA:84064
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Splenomeg... OMIM:615688
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Esophageal varix, Hepatosplenom... ORPHA:367
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ovaries, Hepatic steat... ORPHA:2348
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Developmental And Epileptic Encephalopathy 100
Protruding tongue, Chorea, Gait ataxia, Choreoathetosis, High palate, Myoclonus, Gastroesophageal... OMIM:619777
Lesch-Nyhan Syndrome
Dystonia, Megaloblastic anemia, Nephrolithiasis, Opisthotonus, Choreoathetosis, Nephrocalcinosis,... OMIM:300322
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Inability to walk, Chorea, Pollakisuria, Tip-toe gait, Dysphagia, Right ventricular... ORPHA:268
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Bohring-Opitz Syndrome
Retinal atrophy, Cardiomegaly, Inability to walk, Optic atrophy, Cleft palate, Lower limb hyperto... ORPHA:97297
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Anorectal anomaly, Premature graying of hair, Hepatomegal... ORPHA:1775
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Gastroesophageal reflux, High palate, Neut... ORPHA:443811
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Pancreatic cysts, Renal hypoplasia, Stage 5 chronic kidne... OMIM:614377
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e... OMIM:619991
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephro... OMIM:616084
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia OMIM:615935
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, High palate, Gait distu... ORPHA:765
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Jaundice... ORPHA:1667
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Lower limb spasticity, Cerebral palsy, Ataxia, Precocious puberty, Abnormality of n... ORPHA:163681
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestas... OMIM:615895
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts... OMIM:208500
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Hyper... OMIM:203800
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Hematuria... ORPHA:77259
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Tick-Borne Encephalitis
Elevated hepatic transaminase, Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblo... ORPHA:297
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Intestinal pseudo-obstruction, Ataxia, Impaired distal proprioception, Retinal ... OMIM:607459
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Fasciculations, Urinary bladder sphincter dysfunction, Hepatic steatosis, Upper mo... ORPHA:52430
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ... ORPHA:79240
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Rigidity, Inability to walk, Nephrolithiasis, Choreoathetosis, Hypertonia, High palate OMIM:620023
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Hepatomegaly, Absent platelet dense granules, Fair hair, Albinism... OMIM:608233
Scrub Typhus
Tremor, Splenomegaly, Renal insufficiency, Lymphadenopathy ORPHA:83317
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Cerebellar vermis hypoplasia, Cryptorchidism, Babinski sign, Narrow palate, S... ORPHA:364028
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Nmda Receptor Encephalitis
Ovarian teratoma, Dystonia, Involuntary movements, Oculogyric crisis, Neoplasm of the thymus, Rig... ORPHA:217253
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Painless fractu... OMIM:256810
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, Splenomegaly, Eryt... OMIM:612541
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Cerebellar vermis hypoplasia, Patent ductus arteriosus after premature birt... OMIM:618460
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dysphagia, Rod-cone dystrophy OMIM:252930
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Abnormal mitochondrial shape, Generalized dystonia, Unsteady gait, Macrogloss... ORPHA:412217
Episodic Ataxia, Type 5
Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia OMIM:613855
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Malabsorption, Chorea, Bladder diverticulu... ORPHA:565
Snijders Blok-Fisher Syndrome
Choreoathetosis, Cryptorchidism, Spasticity, Opisthotonus OMIM:618604
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Malabsorption, Iron deficiency anemia, Abnormal intestine m... OMIM:226300
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... OMIM:137440
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Clonus, Involuntary movements, Protruding tongue, Optic atrophy, Opistho... OMIM:620352
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Elevated circulating alanine aminotransferase concentration, High palate, Spa... OMIM:618500
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Myoclonus OMIM:254800
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure ORPHA:60
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Ataxia, Inability to walk, Gastrointestinal dysmotilit... OMIM:617799
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Leydig cell neoplasia, Abnormal sperm motility... ORPHA:1359
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev... OMIM:616433
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Impaired distal vibration sensation, Distal sensory impairment, Steppage gait, Tip-toe gait, Fasc... OMIM:614436
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Thrombocytopenia, Dysphagia, Hepatosplenomega... OMIM:608013
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Ataxia, Peritonitis, Lymphaden... ORPHA:343
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Oculoskeletodental Syndrome
Hepatomegaly, Splenomegaly, Cryptorchidism, Hypercalciuria, Macroglossia, Mucopolysacchariduria, ... OMIM:618440
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Unsteady gait, Retinal degeneration OMIM:520000
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Gastroesophageal reflux, Hemiballismus, ... ORPHA:522077
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Optic atrophy, Lateral ventricle dilatation, Hypertonia, Cerebellar hyp... ORPHA:3078
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Retinal dystrophy, Cryptorc... ORPHA:251066
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Hemolytic anemia, Gastritis, Splenomegaly, Mediastinal... ORPHA:809
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Gait disturbance, Myoclonus, Apraxia OMIM:618193
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Dysphagia, Sp... ORPHA:363722
Jacobsen Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Duodenal ... ORPHA:2308
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, A... OMIM:203700
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Dystonia, Albinism, Splenomegaly, Ocular albinism, Neutropenia OMIM:617050
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia OMIM:615905
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Gastroesophageal reflux, Myoclonus, Ambiguous... ORPHA:168593
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Optic atrophy, Myoclonus OMIM:619057
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Optic atrophy, Renal hypoplasia, Limb ataxia... OMIM:617595
Distal Deletion 12Q
Unilateral cryptorchidism, Impaired pain sensation, Ectopic kidney, High, narrow palate, Pituitar... ORPHA:96149
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Intestinal malrotation, Abnormal cortical gyration, H... ORPHA:2538
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... ORPHA:171
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... OMIM:611881
Mitochondrial Complex I Deficiency, Nuclear Type 31
Myoclonus, Dysmetria OMIM:618251
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:260370
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... ORPHA:567983
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Nephrolithiasis, Hematuria, Chorioretinal ... ORPHA:2196
Immunodeficiency 23
Hemolytic anemia, Somatic sensory dysfunction, Membranoproliferative glomerulonephritis, Ataxia, ... OMIM:615816
Myoclonic Epilepsy Of Infancy
Poor motor coordination, Leber optic atrophy, Myoclonus, Poor hand-eye coordination, Hemiplegia ORPHA:86909
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Hypoplastic labia minora, Cleft palate, Hypoplastic labia majora, Hypertonia,... OMIM:619124
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Peho Syndrome
Cerebellar atrophy, Pachygyria, Optic atrophy, Myoclonus, Polymicrogyria OMIM:260565
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Tetraplegia, Hand tremor, Distal sensory impairment, Gait disturbance, Fasciculations OMIM:604484
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Cleft ... ORPHA:1318
Lennox-Gastaut Syndrome
Falls, Myoclonus ORPHA:2382
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Classic Homocystinuria
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Gastrointestina... ORPHA:394
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul... OMIM:300972
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Pancytopenia, Broad-based gait, Paralysis, Abnormality of the spleen, Splenomegaly, ... ORPHA:2072
Poliomyelitis
Paralysis, Paraparesis, Inability to walk, Paralytic ileus, Hyperkinetic movements, Paresthesia, ... ORPHA:2912
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Eyelid myoclonus OMIM:618357
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Ataxia, Cerebellar calcifications, Proteinuria, Tremor, Spleno... OMIM:133540
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Fasciculations, Distal sensory impairment OMIM:137200
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Myocardial nec... OMIM:260400
Essential Thrombocythemia
Splenomegaly, Paresthesia, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Lower limb spasticity, Optic disc pallor, Optic neuropathy, Akinesia, Abnorma... OMIM:618249
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence, Rigidity, Babinski sign, Gait disturbance, Myoclonus, Dystonia OMIM:600795
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence, Babinski sign, Lateral ventricle dilatation, Gait disturbance, Myoclonus, A... OMIM:221770
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Elevated hepatic transaminase, Dystonia, Hypospadias, Ataxia, Dysphagia, Chor... OMIM:615471
Amyotrophic Lateral Sclerosis 5, Juvenile
Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Fasciculations, Spasticity OMIM:602099
Ramon Syndrome
Abnormality of retinal pigmentation, Narrow palate ORPHA:3019
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysmetria, G... OMIM:617988
Gm1-Gangliosidosis, Type I
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Hypertonia, Cherry red spot of the macula OMIM:230500
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Lymphadenopathy, Achalasia ORPHA:3386
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Autoimmune Lymphoproliferative Syndrome
Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative... ORPHA:3261
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat... ORPHA:79319
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Abnormal cerebellum morphology,... ORPHA:77293
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Speech apraxia, Impaired vibratory sensation, Clonus... ORPHA:415
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Dravet Syndrome
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... ORPHA:33069
Microcephaly-Capillary Malformation Syndrome
Spastic tetraparesis, Optic atrophy, Simplified gyral pattern, Cleft palate, Myoclonus, Vesicoure... OMIM:614261
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, M... OMIM:275350
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Morning myoclonic jerks, Episodic ataxia, Myoclonus, Truncal ataxia OMIM:607682
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Unsteady gait, Hypertonia, Myoclonus ORPHA:79096
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Cerebral palsy, Peptic ulcer, Elevated circulating gro... ORPHA:2796
Wolfram Syndrome
Gastrointestinal hemorrhage, Ataxia, Dysuria, Malabsorption, Abnormal mesentery morphology, Nephr... ORPHA:3463
Amyotrophic Lateral Sclerosis 8
Postural tremor, Abnormal pyramidal sign, Fasciculations, Dysphagia, Loss of ambulation OMIM:608627
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of neuronal migration, Narrow pal... ORPHA:192
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Tremor, Renal Fanconi syndrome, Pancrea... ORPHA:263455
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Poikilocytos... OMIM:300908
Neurodevelopmental Disorder With Spasticity And Poor Growth
Generalized dystonia, Ataxia, Clonus, High, narrow palate, Patent ductus arteriosus, Babinski sig... OMIM:618076
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Trisomy 8P
Cryptorchidism, Malrotation of small bowel, Annular pancreas, Cleft palate, Nephrocalcinosis, Hyd... ORPHA:264450
Stiff-Person Syndrome
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls, Anemia, V... OMIM:184850
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Spondyloepimetaphyseal Dysplasia, Krakow Type
Patent ductus arteriosus, Annular pancreas, Chiari malformation, High palate OMIM:618162
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Spastic tetraplegia, Glycopepti... OMIM:230000
Amyotrophic Lateral Sclerosis 18
Spasticity, Fasciculations, Dysphagia OMIM:614808
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Ataxia, Moderate albuminuria, Renal tubular dysfunction, Glycosuria, Apraxia, Pancreat... ORPHA:99885
Aa Amyloidosis
Hepatomegaly, Proteinuria, Malabsorption, Chronic kidney disease, Cholestasis, Nephrotic syndrome... ORPHA:85445
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Cerebellar hemangioblastoma, Papillary cystadenoma of... OMIM:193300
Amyotrophic Lateral Sclerosis 1
Pseudobulbar paralysis, Fasciculations, Spasticity, Dysphagia OMIM:105400
Isaacs Syndrome
Fasciculations, Distal sensory impairment ORPHA:84142
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Cerebellar vermis hypoplasia, Dicarboxylic aciduria, Cardiomeg... ORPHA:228308
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Chorea, Lymphadenopathy, Hematuria, Leuko... ORPHA:536
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Cerebellar vermis hypoplasia, Pachygyria, Red-brown urine, Abnormality of neuronal ... ORPHA:157
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Inability to walk, Optic atrophy, Renal hypoplasia, Spasticity, Nephrocalcinosis, A... OMIM:617913
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Tremor, Enuresis, Hepatic fibrosis, Hepatocellular c... ORPHA:247585
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Leukopenia, Tubulointerstit... OMIM:251000
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Hypospadias, Increased mean platelet volume, Abnormality of the pa... OMIM:222470
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Cholangitis, Renal cyst, Macular degeneration, Hepatic fibrosis, High palat... OMIM:266920
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Renal insufficiency, Ketonuria, Ataxia, Macular coloboma, Megaloblastic anemia, Hemolytic-uremic ... ORPHA:79282
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Intestinal malrotation, Asplenia, Esophageal atresia, Patent ductus art... OMIM:265380
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Pigmentary retinopathy,... ORPHA:411527
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Eosinophilia, Fasciculations ORPHA:99965
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Ataxia, Myoclonus OMIM:618225
Cerebrotendinous Xanthomatosis
Abnormal pyramidal sign, Abnormal cerebellar peduncle morphology, Ataxia, Parkinsonism, Gait dist... ORPHA:909
Developmental And Epileptic Encephalopathy 54
Myoclonus OMIM:617391
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tremor, Meth... OMIM:251100
Episodic Ataxia Type 1
Cerebellar atrophy, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, Tip-toe gait ORPHA:37612
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... ORPHA:204
Sepsis In Premature Infants
Hepatomegaly, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopenia, Enterocolitis, Gastrointest... ORPHA:90051
Mogs-Cdg
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Hydro... ORPHA:79330
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Leukodystrophy, Hypomyelinating, 10
Inability to walk, Spasticity, Babinski sign, Hyperkinetic movements OMIM:616420
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i... OMIM:167800
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Tremor, Patent duct... OMIM:614080
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation, Ataxia, Gait disturbance ORPHA:578
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis OMIM:615947
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Ataxia OMIM:275630
Hyperekplexia 3
Exaggerated startle response, Hiatus hernia, Hypertonia, Gastroesophageal reflux, Myoclonus OMIM:614618
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Spasticity OMIM:619059
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, High palate, Agenesis of corpus callosum, Pancreatic aplasia ORPHA:556955
Nephronophthisis-Like Nephropathy 1
Kinetic tremor, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cor... OMIM:613159
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Broad-based gait, Ataxia, Protruding tongue, Tremor, Myoclonus, Gait im... ORPHA:98794
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polyc... ORPHA:2969
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... ORPHA:103918
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Inability to walk, Gait disturbance, Myoclonus, Spasticity, Retinal d... ORPHA:168491
Cockayne Syndrome Type 3
Premature graying of hair, Gastroesophageal reflux, Retinal degeneration, Intention tremor, Hepat... ORPHA:90324
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating aspartate aminotransferase concentration, Type II lissencephaly, Hypoplasia ... OMIM:613154
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements ORPHA:209970
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Ataxia, Retinal dystrophy, Optic atrophy, Gait disturbance, Decreased liver functio... OMIM:614863
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Alzheimer Disease 3
Dystonia, Spastic tetraparesis, Babinski sign, Dysphagia, Abnormality of extrapyramidal motor fun... OMIM:607822
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Fetal ascites, Splenomegaly, Cho... OMIM:261515
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Megaloblastic anemia, Tremor, Cystathioninuria, Hemolytic-uremi... OMIM:277400
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Hypospadias, Proteinuria, Unilateral renal agenesis, Exocrine panc... OMIM:137920
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Hepatomegaly, 3-hydroxydicarboxylic aciduria, Optic disc pallor, Hypospadias,... OMIM:252010
Listeriosis
Brain abscess, Somatic sensory dysfunction, Liver abscess, Ataxia, Abscess, Tremor, Jaundice, Per... ORPHA:533
African Trypanosomiasis
Urinary incontinence, Tremor, Impaired proprioception, Choreoathetosis, Hepatomegaly, Papilledema... ORPHA:3385
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Bone spicule pigmentation of the retina, Rhegmatogenous reti... ORPHA:364055
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Inability to walk, Myoclonus ORPHA:411986
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Jejunal atresia, High, narrow palate, Narrow palate, Myoclonus, Spasticity, Right ventricular hyp... OMIM:612949
Birt-Hogg-Dubé Syndrome
Parathyroid adenoma, Abnormality of retinal pigmentation ORPHA:122
Gaucher Disease
Hepatomegaly, Pancytopenia, Ataxia, Proteinuria, Tremor, Splenomegaly, Thrombocytopenia, Hemipleg... ORPHA:355
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus, Perivent... ORPHA:352582
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of retinal pigmentation, Aganglionic megacolon, Malabsorption, Abnormal... ORPHA:175
Galloway-Mowat Syndrome 9
Cerebellar atrophy, Diffuse mesangial sclerosis, Hiatus hernia, Stage 5 chronic kidney disease, C... OMIM:619603
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Multicystic kidney dysplasia, Pyloric stenosis, Cleft palate, Chiari type I malfo... ORPHA:261197
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Partial agenesis of the corpus callosum, Gastrointestinal dysmotili... OMIM:270400
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
Joubert Syndrome 21
Ataxia, Splenomegaly, Optic atrophy, Megalopapilla, Renal cyst, Dysphagia, Oculomotor apraxia, El... OMIM:615636
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Abnormality of the gastrointestinal tract, Generaliz... ORPHA:50918
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Aplasia/Hypoplasia of the tongue, C... ORPHA:193
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polyuria, Macular atrophy, Poor... OMIM:615994
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... ORPHA:276
Hyperekplexia 2
Exaggerated startle response, Hiatus hernia, Hypertonia, Gastroesophageal reflux, Myoclonus OMIM:614619
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated uri... ORPHA:892
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Diffuse mesangial sclerosis, Proteinuria, Simplified gyral pattern, Stage 5 c... OMIM:619609
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... OMIM:608643
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Neurogenic bladder, Dystonia, Ataxia, Urinary incontinence, Optic atrophy, Te... ORPHA:496641
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Pigmentary retinopathy, High palate, Anal atresia, Agenesis of corpus c... OMIM:612582
Usher Syndrome
Abnormality of retinal pigmentation, Ataxia, Vestibular areflexia, Decreased fertility, Aplasia/H... ORPHA:886
Trisomy 18
Abnormality of retinal pigmentation, Cryptorchidism, Esophageal atresia, Cleft palate, Narrow pal... ORPHA:3380
D-Glyceric Aciduria
Optic nerve hypoplasia, Patent ductus arteriosus, Spastic tetraplegia, Spasticity, Opisthotonus, ... OMIM:220120
Crimean-Congo Hemorrhagic Fever
Leukopenia, Cholecystitis, Hepatomegaly, Neutrophilia, Leukocytosis, Epididymitis, Hemoperitoneum... ORPHA:99827
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Fasciculations OMIM:608030
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
De Sanctis-Cacchione Syndrome
Ataxia, Hypermelanotic macule, Bilateral cryptorchidism, Babinski sign, Scissor gait, Optic atrop... OMIM:278800
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Optic atrophy, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, Spas... OMIM:615851
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Intestinal pseudo-obstruction, Impaired distal proprioception, Abno... ORPHA:70595
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Cerebellar vermis hypoplasia, Facial-lingual fasciculations, Dyspla... OMIM:617281
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Right ventricular hypertrophy OMIM:616028
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Angelman Syndrome
Abnormality of the gastrointestinal tract, Optic disc pallor, Broad-based gait, Precocious pubert... ORPHA:72
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Hypertonia, Myoclonus OMIM:617290
Adenylosuccinase Deficiency
Cerebellar atrophy, Inability to walk, Opisthotonus, Gait ataxia, Myoclonus, Hemiplegia, Spasticity OMIM:103050
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Myopathy, Myofibrillar, 2
Fasciculations, Dysphagia OMIM:608810
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... OMIM:239200
Neuroblastoma, Susceptibility To, 1
Ataxia, Abdominal mass, Elevated urinary catecholamine level, Elevated urinary dopamine level, Ab... OMIM:256700
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Werner Syndrome
Abnormality of retinal pigmentation, Decreased fertility, Secondary amenorrhea, Ovarian neoplasm,... ORPHA:902
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Myoclonus OMIM:619060
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Chronic hepatitis,... ORPHA:3260
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Hydroureter, Hypertonia, Myoclonus, Hydronephrosis OMIM:618240
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis, Lipemia retinalis OMIM:207750
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Fasciculations, Dysphagia OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Fasciculations, Dysphagia OMIM:616437
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal st... ORPHA:1572
Schindler Disease, Type I
Increased urinary O-linked sialopeptides, Spasticity, Optic atrophy, Myoclonus OMIM:609241
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Pyloric stenosis, Cl... ORPHA:83617
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Reduced circulating prolactin concentration, Decreased fertility, ... ORPHA:2235
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Micronodular cirrhosis, Abnormal granulocyte... ORPHA:98907
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Ataxia, Protruding tongue, Inability to walk, Opisthotonus, Gait ataxia, Chor... OMIM:619580
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Gastritis, Autoimmune thrombocytopeni... ORPHA:37042
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Diprosopus
Abnormality of retinal pigmentation, Cleft palate ORPHA:1681
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color ORPHA:90037
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Myeloid leukemia, Aganglionic megacolon, Vocal cord paralysis, Abnorma... ORPHA:798
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus, Dysphagia ORPHA:324708
Al Amyloidosis
Abnormality of the gastrointestinal tract, Hepatomegaly, Gastrointestinal hemorrhage, Renal insuf... ORPHA:85443
Full Schwannomatosis
Neoplasm of the anterior pituitary, Hypoesthesia, Uterine leiomyoma, Paresthesia, Fasciculations ORPHA:93921
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Inability to walk, Broad-based gait, High palate, Myoclonus OMIM:616158
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Cho... OMIM:609015
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy, External genital hypoplasia, Renal hypoplasia OMIM:600151
Williams Syndrome
Hypoplasia of penis, Cardiomegaly, Tremor, Rectal prolapse, Dysmetria, Nephrocalcinosis, Gastroes... ORPHA:904
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin... ORPHA:30
Familial Mediterranean Fever
Acute hepatic failure, Intestinal obstruction, Proteinuria, Malabsorption, Orchitis, Splenomegaly... ORPHA:342
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Stage 5 chronic ki... OMIM:249100
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Jaundice, Intrahepatic cholestasis, Hepatomegaly OMIM:605479
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation, Agenesis of corpus callosum, Hemiplegia/hemiparesis ORPHA:1496
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lym... OMIM:617591
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... ORPHA:71505
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Decreased glomerular filtration rate, Pancreatic c... ORPHA:730
Behçet Disease
Gastrointestinal hemorrhage, Renal insufficiency, Ataxia, Malabsorption, Orchitis, Splenomegaly, ... ORPHA:117
Orofaciodigital Syndrome Type 3
Cerebellar vermis hypoplasia, Hamartoma of tongue, Stage 5 chronic kidney disease, Lobulated tong... ORPHA:2752
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Jaundice, Red urine,... OMIM:263700
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Ataxia, Protein... ORPHA:2750
Glycogen Storage Disease Ii
Hepatomegaly, Urinary incontinence, Cardiomegaly, Splenomegaly, Diaphragmatic paralysis, Macroglo... OMIM:232300
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... ORPHA:90033
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Japanese Encephalitis
Neutrophilia, Weakness due to upper motor neuron dysfunction, Dystonia, Paralysis, Tremor, Opisth... ORPHA:79139
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries, Oligomenorrhea, Hepatic steatosis, Pancreatitis ORPHA:435651
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Elev... ORPHA:97283
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Meckel Syndrome, Type 1
External genital hypoplasia, Asplenia, Ambiguous genitalia, female, Lobulated tongue, Ambiguous g... OMIM:249000
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Dystonia, Parkinsonism, Rigidity, Bradykinesia, Urinary urgency, Gait disturbance... OMIM:168601
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, L... OMIM:260920
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, Polymicrogyria, Gastroesophageal reflux, Myoclonus OMIM:300673
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Upper motor neuro... ORPHA:275864
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Hepatic steatosis, Decreased proportion of CD4-positive T ce... OMIM:619573
Parkinsonian-Pyramidal Syndrome
Neurogenic bladder, Dystonia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bra... ORPHA:171695
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Ataxia, Proteinuria, Splenomegaly, Anemia, Hematuria, Gait disturbanc... ORPHA:77261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... OMIM:102700
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Scorpion Envenomation
Acute pancreatitis, Hemifacial spasm, Ataxia, Elevated circulating aspartate aminotransferase con... ORPHA:466677
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Malabs... ORPHA:97282
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Ataxia, Precocious puberty, C... ORPHA:636
Infantile Krabbe Disease
Lower limb spasticity, Optic atrophy, Hypopigmented skin patches, Spastic diplegia, Opisthotonus,... ORPHA:206436
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hemiparesis, Gastroesophage... OMIM:620233
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations OMIM:619141
Inclusion Body Myopathy And Brain White Matter Abnormalities
Babinski sign, Fasciculations OMIM:619733
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Ataxia, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Freckling OMIM:610651
Posttransplant Acute Limbic Encephalitis
Ataxia, Myoclonus, Dystonia ORPHA:163921
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Pancreatic fibrosis OMIM:615503
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Hypermelanotic macule, Orchitis, Splenomegaly, Peritonitis, Leukocytosis,... ORPHA:32960
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal... OMIM:300578
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Hepatic necrosis, Pi... ORPHA:71212
Degcags Syndrome
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Vocal cord paralysis, Abnormality of skin ... OMIM:619488
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Cystic Fibrosis
Male infertility, Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Biliary cirrhosis, Hyperc... OMIM:219700
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment OMIM:604218
Grfoma
Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ... ORPHA:97261
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Thrombocytopenia, Enlar... ORPHA:2785
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Hepatospl... ORPHA:781
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomeg... ORPHA:729
Orofaciodigital Syndrome I
Proteinuria, Abnormal cortical gyration, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Ton... OMIM:311200
Neurogenic Arthrogryposis Multiplex Congenita
Fasciculations ORPHA:1143
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Fabry Disease
Renal insufficiency, Proteinuria, Urinary mulberry cells, Paresthesia, Fasciculations, Lipiduria,... OMIM:301500
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Optic atrophy, Lateral ventricle dilatation, Optic nerve compression,... OMIM:612301
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Nephrocalcinosis, Hypopigmented skin patches ORPHA:53715
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Akinesia, Tremor, Abnormal cerebellum morpho... ORPHA:86309
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Elev... ORPHA:97280
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormality of retinal pigmentation, Papilledema, Abnormal foveal morphology, Splen... ORPHA:580
Den Hoed-De Boer-Voisin Syndrome
Lactose intolerance, Lower limb spasticity, Ataxia, Tremor, Inability to walk, Lateral ventricle ... OMIM:619229
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, Ataxia, Supernumerary nipple, Anteriorly placed anus, Hydronephrosis, High... ORPHA:247262
Adult-Onset Distal Myopathy Due To Vcp Mutation
Urinary incontinence, Parkinsonism, Tremor, Fasciculations, Difficulty walking, Frequent falls ORPHA:329478
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Anteriorly placed anus, Premature graying of hair, High palate, Hypogonadism, Ann... OMIM:268400
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Thrombocytopenia, Stage 5 chronic kidney disease, Leukopenia, Aminoac... OMIM:222700
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Elev... ORPHA:97278
Bardet-Biedl Syndrome 9
Renal insufficiency, Bone spicule pigmentation of the retina, Irregular menstruation, Rod-cone dy... OMIM:615986
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Intestinal malrotation, Exocrine pancreatic insufficiency, Patent ductus ar... ORPHA:2255
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Abnormality of retinal pigmentation, Hypospadias, Hyperpigmentation of... ORPHA:2556
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Menorrhagia, Abnormal number of alpha granules OMIM:139090
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Mucopolysaccharidosis Type 2, Severe Form
Abnormality of retinal pigmentation, Papilledema, Heparan sulfate excretion in urine, Splenomegal... ORPHA:217085
Benign Samaritan Congenital Myopathy
Fasciculations ORPHA:324581
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Pineal cyst, Cholecystitis, Fa... ORPHA:98908
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Olivopontocerebellar hypoplasia, Abnormal scrotal rugation, Cryptorchidism... ORPHA:284339
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Hepatic steatosis, Tubulointerstitial fibr... ORPHA:79259
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Anal stenosis, Retinal pigment epit... OMIM:251260
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis OMIM:238600
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormality of retinal pigmentation, Papilledema, Heparan sulfate excretion in urine, Splenomegal... ORPHA:217093
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Cerebellar vermis hypoplasia, Eosinophilia, Pancreatic cysts, Thrombocytope... OMIM:274000
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Nipah Virus Disease
Tremor, Myoclonus ORPHA:99825
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Generalized hyperpigmentation, Proteinuria, Polycystic ovaries,... ORPHA:79086
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Spasticity, Myoclonus OMIM:618201
Proteus Syndrome
Central heterochromia, Neoplasm of the thymus, Renal cyst, Abnormality of skin pigmentation, Chor... ORPHA:744
Alagille Syndrome 1
Elevated hepatic transaminase, Hepatocellular carcinoma, Multiple small medullary renal cysts, Ch... OMIM:118450
Sitosterolemia 1
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus ORPHA:2801
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Retinal pigment epithelial mottling, Chorioretinal lacunae, Unsteady... OMIM:618733
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial nephritis, ... ORPHA:470
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Chorioretinal dysplas... ORPHA:2526
Camurati-Engelmann Disease
Waddling gait, Hepatomegaly, Ataxia, Splenomegaly, Optic atrophy, Leukopenia, Hypogonadism, Urina... ORPHA:1328
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, L... OMIM:232200
Juvenile Absence Epilepsy
Myoclonus ORPHA:1941
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Hypoplasia of penis, Ureteral duplication, Hypospadias, Multicystic kidney dysplasi... ORPHA:373
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia OMIM:616398
Developmental And Epileptic Encephalopathy 101
Gastroesophageal reflux, Myoclonus, Opisthotonus OMIM:619814
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Paresthesia, Thrombocytosis ORPHA:71493
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas... OMIM:269700
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Precocious puberty, Tremor, Cleft palate, Spasticity, Choreoathetosis, Myoclo... ORPHA:1934
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Spastic tetraparesis, Hyperglycinuria, Lactica... OMIM:605711
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus ORPHA:289266
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,... OMIM:613471
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,... ORPHA:73224
Hennekam Syndrome
Lymphopenia, Malabsorption, Pachygyria, Splenomegaly, Pyloric stenosis, Ectopic kidney, Pulmonary... ORPHA:2136
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Cleft palate, Hypoplasia of the uterus, Anteriorly placed anus, Pigmentar... OMIM:309801
Bardet-Biedl Syndrome 6
Hypospadias, External genital hypoplasia, Renal cyst, Pigmentary retinopathy, Rod-cone dystrophy,... OMIM:605231
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased fertility in females, ... OMIM:608594
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Multiple Myeloma
Splenomegaly, Functional abnormality of the gastrointestinal tract, Lymphadenopathy, Nephrotic sy... ORPHA:29073
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Thro... OMIM:153670
Brody Disease
Somatic sensory dysfunction, Fasciculations OMIM:601003
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Multifocal Motor Neuropathy
Fasciculations ORPHA:641
Blau Syndrome
Hyperpigmentation of the skin, Abnormal retinal vascular morphology, Splenomegaly, Retrobulbar op... ORPHA:90340
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Optic atrophy, Renal cyst, Hepatic fibrosis, Cirrhosis, Rod-cone dys... OMIM:601539
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pigmentary retinopathy, Vitreous hemorrhage, Re... OMIM:193220
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Macular degen... OMIM:612095
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Paresthesia, Fasciculations, Gait di... ORPHA:682
9P13 Microdeletion Syndrome
External genital hypoplasia, Precocious puberty, Hand tremor, High palate, Myoclonus, Cafe-au-lai... ORPHA:324313
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Hyperpigmentation of the skin, Anisocytosis, Increased stool u... ORPHA:79277
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P... ORPHA:97355
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Tremor, Wide penis,... ORPHA:3455
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly OMIM:231005
Citrullinemia, Classic
Hepatomegaly, Oroticaciduria, Ataxia, Cirrhosis OMIM:215700
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Optic atrophy, Cleft palate, Polycystic ovaries, Renal cyst, Hemipleg... ORPHA:137675
Lipodystrophy, Familial Partial, Type 7
Clonus, Polyuria, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Pigmentary re... OMIM:606721
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Ureteral duplication, Intestinal malrotation, Patent ductus arteriosus, Bilia... OMIM:600001
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Optic nerve compression, Anemia ORPHA:667
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Splenomegaly, Mediasti... OMIM:181000
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Arteriosclerosis, Severe Juvenile
Central fundal arteriolar microaneurysms, Central retinal vessel vascular tortuosity, Chronic kid... OMIM:208060
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Gaisböck Syndrome
Peptic ulcer, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephrocalcinosis... ORPHA:90041
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Serotonin Syndrome
Clonus, Tremor, Rigidity, Hypertonia, Myoclonus, Hepatic failure, Acute kidney injury ORPHA:43116
Chromosome 8Q21.11 Deletion Syndrome
Cryptorchidism, Cleft palate, Pigmentary retinopathy, High palate, Micropenis OMIM:614230
Combined Oxidative Phosphorylation Deficiency 57
Bull's eye maculopathy, Myoclonus, Dystonia OMIM:620167
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Impaired vibration sensation in the lower limbs, Clumsiness, Steppage gait, Fasciculations, Frequ... ORPHA:521411
Hepatoerythropoietic Porphyria
Hemolytic anemia, Splenomegaly, Red-brown urine, Red urine, Paresthesia, Increased fecal porphyri... ORPHA:95159
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Retinitis Pigmentosa 46
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:612572
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Cardiomegaly, Asplenia, Posteriorly placed anus, Patent ductus arteriosus, Biliary ... OMIM:306955
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Aplasia of the sweat glands, Recurrent infection of the gastrointestinal tract, Hep... OMIM:612132
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anteriorly placed anus, Ocular albinism, Myoclonus, Anal atresia ORPHA:1352
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Hematur... OMIM:232240
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... ORPHA:199351
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp... OMIM:619381
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Broad-based gait, Dystonia, Involuntary movement... ORPHA:438213
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Mechanical ileus, Chronic noninfectious lymphadenopa... ORPHA:100079
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Postpoliomyelitis Syndrome
Fasciculations, Dysphagia ORPHA:2942
Primary Triglyceride Deposit Cardiomyovasculopathy
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Pancreatitis ORPHA:565612
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Fatal Familial Insomnia
Urinary retention, Ataxia, Myoclonus, Dysphagia OMIM:600072
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... OMIM:617547
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Urinary incontinence, Oculogyric crisis, Rigidity, Babinski sign, A... ORPHA:306674
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
Digeorge Syndrome
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... OMIM:188400
Sarcoidosis
Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hypopigmentat... ORPHA:797
Ethylene Glycol Poisoning
Renal insufficiency, Gastritis, Ataxia, Slurred speech, Renal tubular epithelial necrosis, Renal ... ORPHA:31826
Hyperekplexia 1
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls OMIM:149400
Johanson-Blizzard Syndrome
Fair hair, Anteriorly placed anus, Hepatic fibrosis, Micropenis, Hepatomegaly, Hypospadias, Eleva... OMIM:243800
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Intellectual Developmental Disorder, Autosomal Dominant 42
Limb dystonia, Neurogenic bladder, Cerebral palsy, Dystonia, Inability to walk, Cleft palate, Hig... OMIM:616973
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Retinal atrophy, Retinal degeneration, Optic atrophy, Hypoplasia of the ret... OMIM:253280
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Cleft palate, Pine... ORPHA:790
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia ORPHA:1020
Amyotrophy, Monomelic
Fasciculations OMIM:602440
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Abnormality of retinal pigmentation, Papilledema, Choroidal neovascularization... ORPHA:91500
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Premature ovarian insufficiency, Patchy hypo- and hyperpigme... ORPHA:79474
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Orofaciodigital Syndrome Iii
Myoclonus, Bifid tongue, Bifid uvula, Tongue nodules OMIM:258850
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Urinary incontinence, Spastic tetraplegia, Progressive cerebellar ataxia,... OMIM:616640
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Stage 5 chronic kidney... OMIM:268315
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hydrometrocolpos, Aplasia of the epiglottis... OMIM:617088
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, High palate, Myoclonus ORPHA:314655
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Small cerebellar cortex, Adrenal hyperplasia, ... ORPHA:79500
Leptospirosis
Hepatomegaly, Papilledema, Macular cotton wool spot, Cellular urinary casts, Jaundice, Hepatitis,... ORPHA:509
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Ataxia, Hypertonia, Gastroesophageal reflux, Myoclonus, Spasticity OMIM:618426
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Myoclonus OMIM:614462
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Melanocytic nevus, Multiple cafe-au-lait spots, Generalized ... ORPHA:1969
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H... OMIM:241080
Kinsship Syndrome
Spastic tetraparesis, Renal hypoplasia, Horseshoe kidney, Gastroesophageal reflux, Myoclonus, Ank... OMIM:619297
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... ORPHA:3464
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Developmental And Epileptic Encephalopathy 2
Inability to walk, Gastroesophageal reflux, Myoclonus OMIM:300672
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Ataxia, Rigidity, Myoclonus, Limb myoclonus ORPHA:1183
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling, Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Spastic tetraplegia, Aminoaciduria, Clonus, Myoclonus OMIM:619055
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Unilateral Polymicrogyria
Involuntary movements, Perisylvian polymicrogyria, Spastic tetraplegia, Hemiparesis, Poor fine mo... ORPHA:268943
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Renal cyst, Cleft palate OMIM:272460
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Lafora Disease
Ataxia, Inability to walk, Gait disturbance, Myoclonus, Erratic myoclonus, Spasticity, Hepatic fa... ORPHA:501
Early-Onset Lafora Body Disease
Ataxia, Myoclonus, Spastic tetraparesis ORPHA:324290
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Renal tubular dysfunction, Pigmentary retinopathy, Aminoaciduria, Renal Fancon... ORPHA:411629
Myoclonic Epilepsy Of Lafora
Hepatic failure, Gait disturbance, Myoclonus, Apraxia OMIM:254780
Retinitis Pigmentosa 74
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:616562
Ramon Syndrome
Pigmentary retinopathy, Optic disc pallor, Enlarged labia minora, Narrow palate OMIM:266270
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270

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 Ppt2

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 Ppt2.

No publications found that use IMPC mice or data for Ppt2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ppt2tm2b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Ppt2tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ppt2tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ppt2tm208467(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ppt2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ppt2tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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