Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
peroxisomal biogenesis factor 7
Synonyms:
peroxisome biogenesis factor 7

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pex7 mutations

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

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

The table below shows human diseases associated to Pex7 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Rhizomelic Chondrodysplasia Punctata, Type 1
Developmental cataract, Epiphyseal stippling, Rhizomelia, Calcific stippling of infantile cartila... OMIM:215100
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy, Cataract OMIM:614879
Refsum Disease
Cardiomyopathy, Cataract, Splenomegaly ORPHA:773

The table below shows human diseases predicted to be associated to Pex7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Subcortical band heterotopia, Spastic tetraplegia, Pachygyria, Agyria, Cataract, Gray matter hete... OMIM:615412
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Schizencephaly, Abnormal corpus callosum morphology, Simplifie... OMIM:604317
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Spastic tetraplegia, Lissencephaly, Pachygyria, Agyria, Gray matter... OMIM:615411
Dystonia 30
Dystonia, Arm dystonia, Writer's cramp, Torticollis, Hypothalamic hamartoma, Oromandibular dyston... OMIM:619291
Autosomal Dominant Focal Dystonia, Dyt25 Type
Lingual dystonia, Axial dystonia, Torticollis, Focal dystonia, Laryngeal dystonia, Craniofacial d... ORPHA:329466
Lissencephaly, X-Linked, 1
Death in infancy, Agenesis of corpus callosum, Ataxia, Pachygyria, Micropenis, Agyria, Spasticity... OMIM:300067
Dystonia 4, Torsion, Autosomal Dominant
Dysphagia, Torticollis, Slender build, Generalized dystonia, Torsion dystonia, Gait ataxia, Limb ... OMIM:128101
Lissencephaly 1
Subcortical band heterotopia, Spastic tetraparesis, Pachygyria, Agyria, Abnormal cerebral white m... OMIM:607432
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Failure to thrive, Periventricular nodular heterotopia, Progressive ... OMIM:608097
Microlissencephaly
Periventricular heterotopia, Neuronal loss in the cerebral cortex, Simplified gyral pattern, Liss... ORPHA:1083
Lissencephaly 3
Gray matter heterotopia, Spastic tetraplegia, Lissencephaly, Ataxia, Pachygyria, Polymicrogyria, ... OMIM:611603
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Abnormal cerebral cortex morphology, Polymicrogyria, Subcortic... ORPHA:101029
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Flexion contracture, Gray matter heterotopia, Cryptorchidism... OMIM:617201
Autosomal Recessive Spastic Paraplegia Type 56
Dystonia, Abnormal globus pallidus morphology, Spastic gait, Tip-toe gait, Abnormal cerebral whit... ORPHA:320411
Kennedy Disease
Testicular atrophy, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Hypotonia,... ORPHA:481
Combined Oxidative Phosphorylation Deficiency 39
Dystonia, Arthrogryposis multiplex congenita, Simplified gyral pattern, Pachygyria, Spasticity, F... OMIM:618397
Dystonia 32
Dysphagia, T2 hypointense basal ganglia, Torticollis, Laryngeal dystonia, Limb dystonia OMIM:619637
Rft1-Cdg
Hepatomegaly, Short stature, Failure to thrive, Arthrogryposis multiplex congenita, Bilateral bas... ORPHA:244310
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Developmental cataract... OMIM:604168
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Abnormality of the menstrual cycle, Arth... ORPHA:905
Striatonigral Degeneration, Childhood-Onset
Dystonia, Dysphagia, Loss of ability to walk, Craniofacial dystonia, Hypertonia, Unsteady gait OMIM:617054
Myotonic Dystrophy 1
Testicular atrophy, Dysphagia, Cholelithiasis, Hypogonadism, Generalized hypotonia, Cataract, Cer... OMIM:160900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly, Cataract ORPHA:79281
Bone Marrow Failure Syndrome 5
Testicular atrophy, Anemia, Pure red cell aplasia, Hypogonadism, Microcephaly OMIM:618165
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Spasticity, Gray matter heterotopia, Muscular hypotonia of the trunk, Neonata... ORPHA:1084
Spinocerebellar Ataxia 32
Testicular atrophy, Ataxia, Infertility, Azoospermia OMIM:613909
Dystonia 25
Torticollis, Limb dystonia, Lingual dystonia, Laryngeal dystonia OMIM:615073
Rare Non-Syndromic Intellectual Disability
Dystonia, Dysgenesis of the basal ganglia, Absent septum pellucidum, Hypoplastic hippocampus, Pol... ORPHA:101685
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Dense calvaria, Abnormal periventricular white matter morphology, Abnormal basal gangli... ORPHA:306741
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Hypercholesterolemia, Hepatic ... OMIM:615703
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Short stature, Cardiomyopathy, Hepatic steatosis, Hypertriglyceridemia, Diabetes me... OMIM:610717
Spinocerebellar Ataxia Type 32
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia ORPHA:276183
Dystonia With Cerebellar Atrophy
Dystonia, Dysphagia, Torticollis, Craniofacial dystonia, Progressive cerebellar ataxia OMIM:611694
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Hypertriglyceride... OMIM:614480
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Leukoencephalopathy, Progressive leukoencephalopathy, Ataxia, Spasticity, Premature ova... OMIM:615889
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Ataxia, Hypotonia, Attent... OMIM:618709
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Spastic tetraplegia, Periventricular ribbonlike heterotopia, Hypertonia, Thick cerebral cortex, H... OMIM:618677
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Periventricular Nodular Heterotopia 8
Microcephaly, Attention deficit hyperactivity disorder, Periventricular nodular heterotopia, Spas... OMIM:618185
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrauterine growth retardation, Failure to thrive, Decreased liver function, Hepatic steatosis, ... OMIM:617093
Dystonia 6, Torsion
Lingual dystonia, Writer's cramp, Torticollis, Oromandibular dystonia, Laryngeal dystonia, Torsio... OMIM:602629
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatos... OMIM:618805
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Short stature, Elevated hepatic transaminase, Fai... OMIM:256810
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Dysphagia, Decreased fertility OMIM:313200
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly, Cataract, Epiphyseal stippling OMIM:614882
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Failure to thrive, Ataxia, Hypertonia, Spasticity, Cerebral ca... ORPHA:1314
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Dysplastic corpus callosum, Failure to thrive, Ataxia, Inability to walk, Spasticity, G... OMIM:618276
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hyperlipidemia, Increased hepatic glycogen content, H... OMIM:232700
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Short stature, Increased susceptibility to fractures, Cranial n... ORPHA:52430
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Leukoencephalopathy, Brain Calcifications, And Cysts
Dystonia, Gait disturbance, Leukoencephalopathy, Ataxia, Spasticity, Cerebral calcification OMIM:614561
Hemochromatosis, Type 4
Hepatomegaly, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Cataract, Diabetes mellitus, Impotenc... OMIM:606069
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Reduced lyso... OMIM:278000
Aicardi-Goutieres Syndrome 3
Dystonia, Cerebral calcification, Death in childhood, Abnormal cerebral white matter morphology, ... OMIM:610329
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Cataract OMIM:300719
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Dystonia, Partial agenesis of the corpus callosum, Death in infancy, Anemia,... OMIM:619302
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dystonia, Spastic tetraplegia, Progressive microcephaly, Secondary microcephaly, Muscular hypoton... OMIM:251280
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Dystonia, Diffuse white matter abnormalities, Generalized hypotonia, Secondary microcephaly, Micr... OMIM:616763
Primary Dystonia, Dyt17 Type
Torticollis, Craniofacial dystonia, Generalized dystonia ORPHA:370103
Dystonia 31
Arm dystonia, Dysphagia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized d... OMIM:619565
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Hyperlipidemia, Increased circulating cortisol level, Diabetes mellitus, Typ... ORPHA:189439
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Osteoporosis, Weight ... ORPHA:465508
Dystonia 28, Childhood-Onset
Gait disturbance, Dystonia, Torticollis, Oromandibular dystonia, Retrocollis, Laryngeal dystonia,... OMIM:617284
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect, Epiphyseal stippling, Elevated circulating aspartate ami... OMIM:614876
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Generalized hypotonia, Cataract, Spasticity, Cerebral atrophy, Flexion contrac... OMIM:617393
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Decreased distal sensory nerve action potential... OMIM:618400
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... OMIM:613812
Developmental And Epileptic Encephalopathy 7
Dystonia, Spastic tetraparesis, Generalized hypotonia, Hypotonia, Hypoplasia of the corpus callosum OMIM:613720
Alstrom Syndrome
Dilated cardiomyopathy, Tubulointerstitial nephritis, Short stature, Insulin-resistant diabetes m... OMIM:203800
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Dystonia, Death in infancy, Spastic tetraplegia, Simplified gyral pattern, H... OMIM:619301
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Limited elbow flexion, Axonal loss, Motor conduction b... ORPHA:206594
Spastic Paraparesis-Deafness Syndrome
Gait disturbance, Hypogonadism, Ataxia, Cataract, Spastic paraparesis ORPHA:2815
Band Heterotopia
Subcortical band heterotopia, Polymicrogyria, Spasticity, Gray matter heterotopia, Agenesis of co... OMIM:600348
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Spastic Ataxia 1, Autosomal Dominant
Dystonia, Gait disturbance, Dysphagia, Spastic ataxia, Spastic paraplegia OMIM:108600
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Spastic paraplegia, Inability to walk, Periventricular nodular heterotopia, Microcephaly OMIM:618572
Striatonigral Degeneration, Infantile
Failure to thrive, Dystonia, Dysphagia, Spasticity OMIM:271930
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Corneal opacity, Cerebral calcification, Thrombocytopenia, Mic... ORPHA:1980
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Limb ... ORPHA:464440
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis, ... OMIM:617872
Huntington Disease-Like 2
Dystonia, Gait disturbance, Abnormal corpus striatum morphology, Caudate atrophy, Abnormal cerebr... ORPHA:98934
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, R... OMIM:300635
Aicardi-Goutieres Syndrome 2
Dystonia, Lymphocytosis, Cerebral atrophy, Spastic paraplegia, Basal ganglia calcification, Micro... OMIM:610181
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy OMIM:615395
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Portal fibrosis, Splenomegaly, Abnormal erythrocyte enzyme level, Hepatic fibrosis, Hepatocellula... ORPHA:370
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Testicular atrophy, Cerebral calcification OMIM:613987
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic g... ORPHA:369
Spastic Paraparesis And Deafness
Hypogonadism, Cataract, Spastic paraparesis OMIM:312910
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Bone cyst, Axonal loss, Caudate atrophy, Peripheral demyelination, Leukoencephalopathy, Pathologi... OMIM:221770
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Hypercholesterolemia, Elevated circulating alkaline ... OMIM:616829
Primary Dystonia, Dyt13 Type
Dystonia, Torticollis, Focal dystonia, Craniofacial dystonia, Generalized dystonia, Torsion dysto... ORPHA:98807
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Small for gestational age, Failure to thrive, Arthrogryposis multiplex congenita, Cataract, Spast... OMIM:212540
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... ORPHA:300573
Lissencephaly 5
Subcortical band heterotopia, Gray matter heterotopia, Spastic paraplegia, Leukoencephalopathy, H... OMIM:615191
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Hypotonia, Hypertonia, Joint stiffness, Hypoplasia of penis, M... ORPHA:2216
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Osteoporosis, Macrovesicular hepati... OMIM:618234
Lesch-Nyhan Syndrome
Testicular atrophy, Dystonia, Dysphagia, Opisthotonus, Megaloblastic anemia, Podagra, Spasticity,... OMIM:300322
Wolfram Syndrome 1
Testicular atrophy, Dysphagia, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, At... OMIM:222300
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Rickets, Hypocholesterolemia, Failure to thri... OMIM:607765
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:607734
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Cerebral white matter atrophy, Hepatic steatosis, Cataract, Elevated hepatic transa... ORPHA:369840
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Osteoporosis, Splenom... OMIM:235200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Dysphagia, Rigidity, Bradykinesia, Primary amenorrhea, ... OMIM:157640
2,4-Dienoyl-Coa Reductase Deficiency
Dystonia, Death in infancy, Failure to thrive, Spasticity, Cerebral atrophy, Hypotonia, Microceph... OMIM:616034
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Lower limb spasticity, Ataxia, Inability to walk, Waddling gait, Broad-based gait, Gene... OMIM:616756
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Po... ORPHA:280356
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Intrauterine growth retardation, Failure to thrive, Ventricular hypertrophy, Left v... OMIM:619048
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Optic atrophy, Intrauterine growth retardation, Failure to thrive, P... OMIM:618237
Galactokinase Deficiency
Nuclear cataract, Hepatomegaly, Small for gestational age, Hypergonadotropic hypogonadism, Failur... ORPHA:79237
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... ORPHA:3453
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Small for gestational age, Peripheral demyelination, Left ventri... OMIM:616733
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Short stature, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenom... OMIM:612526
Tangier Disease
Hepatomegaly, Peripheral axonal neuropathy, Facial diplegia, Peripheral demyelination, Splenomega... OMIM:205400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Portal fibrosis, Short stature, Splenomegaly, Abnormal erythrocyte enzyme level, Hepatic fibrosis... ORPHA:264580
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Inability to walk, Polymicrogyria, Spasticity, Cerebral atrophy, Oculogyric crisis, Hyp... OMIM:614254
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Intrauterine growth retardation, Failure to thrive, Cardiomyopathy, Hepatic steato... ORPHA:26792
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Oligomenorrhea, Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Peripheral demyelination, Cerebral atrophy, Decreased body weight, Hypoplasia of the... OMIM:617672
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Secondary growth hormone deficiency, Absence of secondary sex characteristics, Redu... ORPHA:2410
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, CNS demyelination, Failure to thrive, Peripheral demyelination,... OMIM:220111
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Pulmonic stenosis, Decreased liver function, Hepatic steatosi... OMIM:614300
Martsolf Syndrome 2
Developmental cataract, Hypogonadotropic hypogonadism, Spastic diplegia, Cataract, Camptodactyly ... OMIM:619420
Galactose Epimerase Deficiency
Hepatomegaly, Growth delay, Weight loss, Splenomegaly, Cataract, Jaundice ORPHA:79238
Dystonia 23
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Cerebral cortical atrophy, Limb dy... OMIM:614860
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Gray matter ... OMIM:604213
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral demyelination, Joint contr... OMIM:609033
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Decreased skull ossification OMIM:601163
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Neuroendocrine neoplasm, Abnormal response to corticotropin rel... ORPHA:189427
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microcornea, Corneal opacity, Large for gestational age ORPHA:2432
Galactose Mutarotase Deficiency
Hepatomegaly, Failure to thrive, Decreased liver function, Cholestasis, Cataract, Abnormal enzyme... ORPHA:570422
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Gait disturbance, Dysphagia, Rigidity, Failure to thrive, Cogwheel rigidity, Basal gang... ORPHA:225154
Autosomal Recessive Spastic Paraplegia Type 26
Dystonia, Gait disturbance, Pseudobulbar paralysis, Lower limb spasticity, Cataract, Premature ov... ORPHA:101006
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Infantile axial hypotonia, Dystonia, Scissor gait, Loss of ambulation, Oromandibular dystonia, Br... ORPHA:521406
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Dystonia, Hypoplasia of the olfactory bulb, Spastic tetraplegia, Inability to walk, Abnormality o... OMIM:618646
Developmental And Epileptic Encephalopathy 69
Dystonia, Arthrogryposis multiplex congenita, Spastic tetraplegia, Inability to walk, Corpus call... OMIM:618285
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Decreased phosphoribosylpyrophosphate synthetase level, Segm... OMIM:311070
Retinitis Pigmentosa 59
Hepatomegaly, Intrauterine growth retardation, Failure to thrive, Elevated hepatic transaminase, ... OMIM:613861
Developmental And Epileptic Encephalopathy 38
Dystonia, Hypertonia, Ataxia, Generalized hypotonia OMIM:617020
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Autosomal Dominant Spastic Ataxia Type 1
Dystonia, Dysphagia, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Hyp... ORPHA:251282
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Peri... OMIM:118200
Gabriele-De Vries Syndrome
Dystonia, Waddling gait, Abnormal cerebral white matter morphology, Cryptorchidism, Joint laxity OMIM:617557
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Severe short-limb dwarfism, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyce... ORPHA:436182
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Dystonia, Spastic tetraplegia, Ataxia, Small basal ganglia, Infantile muscular hypotonia, Abnorma... ORPHA:263410
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Large basal ganglia, Cortical dysplasia, Absent septum pellucidum, Hyperactivity, Polym... ORPHA:88616
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Skin rash, Hypertriglyceridemia OMIM:619175
Spinocerebellar Ataxia, Autosomal Recessive 29
Lower limb spasticity, Iron accumulation in globus pallidus, Ataxia, Inability to walk, Corpus ca... OMIM:619389
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Death in infancy, Neutropenia, Hypertonia, Generalized hypotonia, Cataract, Cerebral at... OMIM:617248
Halothane Hepatitis
Viral hepatitis, Hepatitis, Obesity, Jaundice OMIM:234350
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Failure to thrive, D... OMIM:305400
Paroxysmal Nonkinesigenic Dyskinesia 1
Torticollis, Paroxysmal dystonia, Dysphagia OMIM:118800
Cyanosis And Hepatic Disease
Hepatitis, Abnormal abdomen morphology OMIM:219400
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Dystonia, Ataxia, Central hypothyroidism OMIM:616113
3-Methylglutaconic Aciduria Type 1
Dystonia, Failure to thrive, Spastic tetraparesis, Progressive cerebellar ataxia, Abnormality of ... ORPHA:67046
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Paroxysmal dystonia, Writer's cramp ORPHA:163727
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Generalized joint laxity, Spastic dysarthria, Facial hypotonia, Cerebral cortical atrop... ORPHA:280763
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... OMIM:606483
Krabbe Disease
Optic atrophy, CNS demyelination, Failure to thrive, Peripheral demyelination, Decreased nerve co... OMIM:245200
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Abnormality of the ovary, Hypogonadism, Cataract, Hypotonia, Decreased testicul... ORPHA:1875
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Bone cyst, Precocious puberty in females, Oligomenorrh... ORPHA:528
Adrenomyodystrophy
Short stature, Failure to thrive, Primary adrenal insufficiency, Reduced bone mineral density, He... ORPHA:977
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Decreased calvarial ossification, Joint hyperflexibility, Ambi... ORPHA:2772
Galactosemia
Hepatomegaly, Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1,... ORPHA:352
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Dysphagia, Adrenal insufficiency, Generalized dystonia, ... OMIM:619025
Autosomal Recessive Spastic Paraplegia Type 69
Spastic dysarthria, Lower limb spasticity, Cataract, Progressive spastic paraplegia, Agenesis of ... ORPHA:401830
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Ataxia, Hypertriglyceridemia, Spasticity, Cerebral atrophy OMIM:615924
Hypermanganesemia With Dystonia 2
Dystonia, Gait disturbance, Oromandibular dystonia, Bradykinesia, Flexion contracture, Spasticity... OMIM:617013
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Giant cell hepatitis, Failure to thrive, Right ventricular hypertrophy... OMIM:613404
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Hepatomegaly, CNS demyelination, Leukodystrophy, Diffuse hepatic steatosis, Elevat... OMIM:264470
Rajab Interstitial Lung Disease With Brain Calcifications 2
Periventricular cysts, Short stature, Joint hypermobility, Hepatic steatosis, Hepatosplenomegaly,... OMIM:619013
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Upper limb spasticity, Reduced sperm motility, Spastic dy... ORPHA:320391
Autoimmune Polyendocrine Syndrome, Type Ii
Type II diabetes mellitus, Exocrine pancreatic insufficiency, Asplenia, Hepatitis, Chronic mucocu... OMIM:269200
4H Leukodystrophy
Dystonia, Dysphagia, Dysmetria, Hypogonadotropic hypogonadism, Progressive gait ataxia, Abnormali... ORPHA:289494
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Dysphagia, Muscular hypotonia of the trunk, Cerebral cortical atrophy, Spasticity, Agen... OMIM:617669
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Dysphagia, Hypertonia, Cerebral calcification, Hypotonia, Microcephaly OMIM:261630
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Myel... OMIM:118220
Chromosome 18P Deletion Syndrome
Dystonia, Small for gestational age, Micropenis, Cryptorchidism, Decreased testicular size, Gonad... OMIM:146390
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... OMIM:180800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segm... OMIM:601098
Leukodystrophy, Hypomyelinating, 14
Dystonia, Generalized hypotonia, Spasticity, Cerebral atrophy, Microcephaly OMIM:617899
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Failure to thrive, Abnormal heart morphology, Focal T2 hyperintense ... ORPHA:70472
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Intrauterine growth retardation, Ascites, Failure to thrive, Ci... OMIM:617156
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Peripheral demyelination, CNS demyelination, Optic neuritis OMIM:165200
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Dystonia, Hypointensity of cerebral white matter on MRI, Ataxia OMIM:619196
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Peripheral demyelination, Decreased number of small ... ORPHA:101097
16P11.2P12.2 Microduplication Syndrome
Hypospadias, Dystonia, Attention deficit hyperactivity disorder, Microcephaly ORPHA:261204
Classic Galactosemia
Decreased fertility in females, Gait disturbance, Dystonia, Secondary amenorrhea, Gait imbalance,... ORPHA:79239
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Cataract OMIM:607906
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Juvenile Huntington Disease
Dystonia, Neuronal loss in basal ganglia, Rigidity, Oral motor hypotonia, Weight loss, Bradykines... ORPHA:248111
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Gait disturbance, Dysphagia, Ataxia, Craniofacial dystonia, Spasticity OMIM:617282
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Giant cell hepatitis, Failure to thrive, Right ventricular hypertrophy... OMIM:208085
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Dysmetria, Spastic dysarthria, Leukoencephalopathy, Spastic ataxia, Progressive cerebel... ORPHA:314603
Glycogen Storage Disease Ixa1
Hepatomegaly, Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... OMIM:306000
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Peripheral demyelination, Basal lamina onion bulb form... OMIM:614895
Leukodystrophy, Hypomyelinating, 18
Progressive spasticity, Dystonia, Dysmetria, Failure to thrive, Spastic tetraplegia, Secondary mi... OMIM:618404
1Q21.1 Microduplication Syndrome
Hypospadias, Failure to thrive, Arthrogryposis multiplex congenita, Hypertonia, Cataract, Cryptor... ORPHA:250994
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Ddost-Cdg
Short stature, Failure to thrive, Osteopenia, Hepatic steatosis, Primary hypothyroidism, CNS hypo... ORPHA:300536
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Hepatitis OMIM:118900
Developmental And Epileptic Encephalopathy 92
Dystonia, Ataxia, Inability to walk, Spasticity, Secondary microcephaly, Difficulty walking, Leth... OMIM:617829
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Neonatal death, Arthrogryposis multiplex congenita, Inability to walk, Generalized hypo... OMIM:611890
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Gait disturbance, Rigidity, Oromandibular dystonia, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
Huntington Disease
Dystonia, Gait disturbance, Gait imbalance, Rigidity, Caudate atrophy, Polyphagia, Decreased body... ORPHA:399
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Peripheral demyelination, Decreased nerve conduction velocity, Abnormal n... ORPHA:2932
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Demyelinating... ORPHA:208981
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Hepatomegaly, Tubulointerstitial nephritis, Failure to thrive, Eleva... OMIM:614582
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Segmental peripheral d... OMIM:606482
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Dysphagia, Rigidity, Small for gestational age, Bradykinesia, Ataxia, Hypertonia, Muscu... OMIM:261640
Multiple Sulfatase Deficiency
Hepatomegaly, CNS demyelination, Short stature, Peripheral demyelination, Splenomegaly, Corneal o... OMIM:272200
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Type II diabetes mellitus, Cholelithiasis, Cholestatic liver disease, Hypog... ORPHA:79095
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Alg2-Cdg
Hepatomegaly, Cerebral hypomyelination, Hyperintensity of cerebral white matter on MRI, Iris colo... ORPHA:79326
Aicardi-Goutieres Syndrome 6
Dystonia, Rigidity, Loss of ability to walk, Cerebral calcification, Hemolytic anemia, Microcephaly OMIM:615010
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, Small for gestational age, Hypergonadotropic hypogonadism, Insulin-r... ORPHA:2959
Congenital Muscular Dystrophy Without Intellectual Disability
Achilles tendon contracture, Abnormal cerebral white matter morphology, Pachygyria, Tip-toe gait,... ORPHA:370980
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Cachexia, Peripheral axonal neuropathy, Decreased numb... ORPHA:298
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy, Microcephaly OMIM:615119
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Dystonia, Inability to walk, Spasticity, Generalized hypotonia, Hypoplasia of the corpus callosum... OMIM:617820
Galactosemia Iv
Prolonged neonatal jaundice, Cataract OMIM:618881
Primary Dystonia, Dyt21 Type
Paroxysmal dystonia, Dystonia, Axial dystonia, Torticollis, Focal dystonia, Laryngeal dystonia, G... ORPHA:306734
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Dystonia, Macroorchidism, Spastic gait, Juvenile cataract, Shuffling gait, Bradykinesia, Spastic ... OMIM:300055
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Osteoporosis, Hypogonadism, Hepatic steatosis, Hypertriglyceridemia, Flexion contra... OMIM:615381
Mccune-Albright Syndrome
Increased serum testosterone level, Goiter, Fibrous dysplasia of the bones, Increased circulating... ORPHA:562
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Peripheral demyelination, Decreased number of large peripheral myelinated n... OMIM:608340
Cofs Syndrome
Hypotonia, Death in infancy, Arthrogryposis multiplex congenita, Hypogonadism, Hypertonia, Catara... ORPHA:1466
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... ORPHA:209902
Spastic Paraplegia 47, Autosomal Recessive
Dystonia, Inability to walk, Waddling gait, Spasticity, Flexion contracture, Spastic paraplegia, ... OMIM:614066
Mucolipidosis Iv
Dystonia, Dysplastic corpus callosum, Spastic tetraplegia, Hypergastrinemia, Corneal opacity, Gen... OMIM:252650
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Cholelithias... ORPHA:848
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Acute pancreatitis, Cerebral atrophy, Basal ganglia calcification, Portal hyp... OMIM:619487
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Small for gestational age, Basal ganglia cysts, Generalized hypotonia, Episodic ataxia,... OMIM:312170
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Eleva... OMIM:301045
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Ataxia, Spasticity, Abnormal cerebral white matter morphology, Gait ataxia, Muscular hy... OMIM:607317
Trichohepatoenteric Syndrome 2
Hepatomegaly, Intrauterine growth retardation, Small for gestational age, Failure to thrive, Hepa... OMIM:614602
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Autosomal Agammaglobulinemia
Sinusitis, Bronchiectasis, Chronic otitis media, Failure to thrive, Hepatitis, Arthritis, Osteomy... ORPHA:33110
Galactosemia Ii
Prolonged neonatal jaundice, Cataract OMIM:230200
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Dysmetria, Failure to thrive, Leukoencephalopathy, Ataxia, Spasticity, Generalized hypo... OMIM:617954
3-Methylglutaconic Aciduria, Type Vii
Neutropenia, Cataract, Spasticity, Cerebral atrophy, Hypotonia, Microcephaly, Neonatal hypotonia OMIM:616271
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Osteoporosis... OMIM:615830
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Developmental And Epileptic Encephalopathy 73
Failure to thrive, Cataract, Flexion contracture, Delayed CNS myelination, Hypoplasia of the corp... OMIM:618379
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Splenomegaly, Recurrent otitis media ORPHA:444463
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Gait disturbance, Small for gestational age, Increased body ma... OMIM:300957
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination, Myelitis, Optic neuritis ORPHA:71211
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... ORPHA:99953
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive,... OMIM:212140
Jaberi-Elahi Syndrome
Dystonia, Dysmetria, Failure to thrive, Joint hypermobility, Inability to walk, Cataract, Spastic... OMIM:617988
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination, Abnormal perive... OMIM:249900
Familial Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea, Hemorrhagic ovarian cyst, Amenorrhea, Osteoporosis, Ost... ORPHA:397685
Hypertrophic Neuropathy Of Dejerine-Sottas
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... OMIM:145900
Encephalopathy Due To Prosaposin Deficiency
Hypotonia, Dystonia, Death in infancy, Splenomegaly ORPHA:139406
3-Hydroxyisobutyric Aciduria
Failure to thrive, Abnormality of neuronal migration, Congenital intracerebral calcification, Mic... OMIM:236795
X-Linked Agammaglobulinemia
Sinusitis, Short stature, Recurrent cutaneous abscess formation, Chronic otitis media, Failure to... ORPHA:47
Spastic Paraplegia 26, Autosomal Recessive
Dystonia, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Tip-toe gait, Cataract, Spastic... OMIM:609195
Developmental And Epileptic Encephalopathy 16
Dystonia, Generalized hypotonia, Cerebral atrophy, Secondary microcephaly, Microcephaly, Severe m... OMIM:615338
Isolated Sedoheptulokinase Deficiency
Severe postnatal growth retardation, Short stature, Hepatitis, Arthrogryposis multiplex congenita... ORPHA:440713
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Axonal degenerati... OMIM:609260
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Death in infancy, Small for gestational age, Micropenis, Cataract, Campto... OMIM:610756
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Growth delay, Ascites, Failure to thrive, Depletion of mit... OMIM:251880
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Cardiomyopathy, Decreased liver function, Iris hypopigmentation, Cataract, Mic... ORPHA:67048
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Adrenal insufficiency, Caudate atrophy, Failure to thrive, Spastic tetraplegia, Spastic... OMIM:618238
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Death in childhood, Osteoporosis, Arthrogryposis multiplex congenita, Joint co... OMIM:214150
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Pneumonia, Failure to thrive, Splenomegaly OMIM:269840
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysmetria, Simplified gyral pattern, Pachygyria, Dysdiadochokinesis, Truncal ataxia, Broad-based ... OMIM:224050
Warburg Micro Syndrome 3
Microcornea, Hypoplastic labia minora, Developmental cataract, Shallow anterior chamber, Cerebral... OMIM:614222
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Cholelithiasis, Elevat... ORPHA:567983
Developmental And Epileptic Encephalopathy 27
Dystonia, Spasticity, Generalized hypotonia, Hypotonia, Microcephaly OMIM:616139
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Interface hepatitis, Elevated serum transaminases during infections... OMIM:611182
Adrenomyodystrophy
Hepatic steatosis, Megalocornea, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Infantile Liver Failure Syndrome 1
Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans... OMIM:615438
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Puberty and gonadal disorders, Muscular hypotonia of the trunk, Cerebral white matter a... ORPHA:464282
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract, Premature ovarian insufficiency, Severe short stature ORPHA:2278
Cog7-Cdg
Hepatomegaly, Small for gestational age, Failure to thrive, Abnormal heart morphology, Subcortica... ORPHA:79333
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Cerebral atrophy, Substantia nigra gliosis OMIM:600116
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity OMIM:162600
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy OMIM:182815
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Ele... OMIM:603471
Null Syndrome
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, CNS hypomyelination... ORPHA:280234
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Dystonia, Cerebral white matter atrophy, Abnormal substantia nigra mo... ORPHA:98756
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Wilson Disease
Hepatomegaly, Hypoparathyroidism, Hepatocellular carcinoma, Osteoporosis, Cirrhosis, Joint hyperm... OMIM:277900
Molybdenum Cofactor Deficiency, Complementation Group A
Aldehyde oxidase deficiency, Axonal loss, Growth delay, Ectopia lentis, Peripheral demyelination,... OMIM:252150
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Microcephaly, Dystonia, Spasticity, Generalized hypotonia OMIM:613970
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Dysplastic corpus callosum, Failure to thrive, Leukoencephalopathy, Macrovesicular ... OMIM:614924
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Failure to thrive, Leukodystrophy, Decreased liver function, Corpus callosum atrop... OMIM:614877
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Lopes-Maciel-Rodan Syndrome
Dystonia, Dysphagia, Caudate atrophy, Bradykinesia, Hypertonia, Spasticity, Cerebral atrophy, Uns... OMIM:617435
Macrophage Activation Syndrome
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Elevated circulating aspartate a... ORPHA:158061
Mental Retardation, Autosomal Dominant 13
Abnormality of neuronal migration, Gait disturbance, Spastic tetraplegia, Pachygyria, Hypotonia, ... OMIM:614563
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Dysphagia, Dysmetria, Ataxia, Corpus callosum atrophy, Spasticity, Generalized hypotoni... OMIM:618088
Developmental And Epileptic Encephalopathy 1
Dystonia, Dysphagia, Spastic tetraparesis, Hypertonia, Micropenis, Muscular hypotonia of the trun... OMIM:308350
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hepatic fai... OMIM:214950
Christianson Syndrome
Dystonia, Dysphagia, Cachexia, Arthrogryposis multiplex congenita, Microcephaly, Aplasia/Hypoplas... ORPHA:85278
Primary Dystonia, Dyt6 Type
Dystonia, Lingual dystonia, Torticollis, Laryngeal dystonia, Craniofacial dystonia, Generalized d... ORPHA:98806
Leukodystrophy, Hypomyelinating, 16
Dystonia, Dysmetria, Hypertonia, Hypoplasia of the corpus callosum, Broad-based gait, Generalized... OMIM:617964
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Intrauterine growth retardation, Failure to thrive, Cataract, Elevated hepatic tran... OMIM:618958
Microcephaly-Microcornea Syndrome, Seemanova Type
Progressive spasticity, Hypogonadism, Cataract, Microcornea, Microcephaly ORPHA:2528
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Hypoplasia of the corpus callosum, Peripheral axonal neuropathy OMIM:615035
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Pericardial effusion, Hypergonadotropic hypogonadism, Hypocholest... OMIM:212065
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... OMIM:604563
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:118210
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... OMIM:219080
Baralle-Macken Syndrome
Dystonia, Inability to walk, Cataract, Spasticity, Obesity, Microcephaly, Neonatal hypotonia OMIM:619255
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Inability to walk, Cerebral atrophy, Hypotonia, Secondary microcephaly OMIM:618497
Developmental And Epileptic Encephalopathy 35
Intrauterine growth retardation, Cardiomyopathy, Cataract, Delayed CNS myelination, Cerebral atro... OMIM:616647
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Adrenal insufficiency, Decreased circulating aldosterone level, Hypopar... OMIM:240300
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Caudate atrophy, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia, Cerebral atrop... ORPHA:363400
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Failure to thrive, Osteoporosis, Splenomegaly, Cirrhosis, Neonatal cholestatic live... ORPHA:79301
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Growth delay, Short stature, Failure to thrive, Osteoporosis, Abnormal cerebral whi... OMIM:614727
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Dysphagia, Failure to thrive, Leukoencephalopathy, Ataxia, Progressive microcephaly, Ge... OMIM:618226
Spinocerebellar Ataxia Type 11
Dystonia, Dysphagia, Gait imbalance, Progressive cerebellar ataxia, Difficulty walking ORPHA:98767
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral demyelination, Peripheral axonal neuropathy ORPHA:231445
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Failure to thrive, Decreased nerve conduction velocity, Acute hepatitis, Decreased ... OMIM:238970
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Decreased serum insulin-like gro... OMIM:614921
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination, Joint contracture of the hand OMIM:258650
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Adrenal insufficiency, Pancreatitis, Elevated circulating aspartate ... OMIM:619386
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration, Abnormal cortical bone morphology, Splenomegaly, Increased bon... ORPHA:2204
Dystonia 16
Dysphagia, Torticollis, Bradykinesia, Unsteady gait, Limb dystonia ORPHA:210571
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Foxg1 Syndrome
Dystonia, Agenesis of corpus callosum, Abnormal corpus callosum morphology, Pachygyria, Inability... ORPHA:561854
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification, Rigidity, Bradykinesia, Hypertonia, Generalized dystonia, Basal ganglia c... OMIM:618824
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Optic disc pallor, Intrauterine growth retardation, Short stature, Simplified gyra... OMIM:616171
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Hepatomegaly, Eczema, Growth delay, Failure to thrive, Elevated hepatic t... OMIM:615895
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Dysphagia, Upper limb spasticity, Spastic gait, Spastic dysarthria, Spasticity of facia... OMIM:205100
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hyperlipidemia, Decreased body mass ind... ORPHA:247585
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Secondary amenorrhea, Maternal diabetes, Dysmenorrhea,... ORPHA:79083
Molybdenum Cofactor Deficiency, Complementation Group B
Axonal loss, Growth delay, Ectopia lentis, Peripheral demyelination, Lens luxation, Hypoplasia of... OMIM:252160
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Growth delay, Hyperlipidemia, Osteoporos... ORPHA:91
Porphyria Cutanea Tarda
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Corneal scarrin... ORPHA:101330
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Buphthalmos, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cys... OMIM:610199
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the upper limbs, Dystonia, Arm dystonia, Dysphagia, Opisthotonus, A... ORPHA:300605
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Dysmetria, Leukoencephalopathy, Spastic ataxia, Spasticity, Gait ataxia, Cerebral corti... OMIM:611390
Autosomal Recessive Spastic Paraplegia Type 53
Failure to thrive, Upper limb hypertonia, Joint hyperflexibility, Cortical dysplasia, Microcephal... ORPHA:319199
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... ORPHA:90793
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f... OMIM:613070
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... OMIM:608673
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Decreased motor nerve conduction velocity, Distal arthrogryposis, Axonal lo... OMIM:611228
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Mitral valve prolapse, Lens subluxation, Ectopia lentis, Failure to thrive, Osteoporosis, Pancrea... OMIM:236200
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... OMIM:617384
Senior-Loken Syndrome
Short stature, Congenital hepatic fibrosis, Abnormality of bone mineral density, Cataract, Premat... ORPHA:3156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Achilles tendon contracture, Joint contracture of the hand, Pa... OMIM:608840
Leukodystrophy, Hypomyelinating, 21
Athetosis, Dystonia, Failure to thrive, Hypogonadotropic hypogonadism, Ataxia, Corpus callosum at... OMIM:619310
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Primary amenorrhea, Hypergonadotropic hyp... OMIM:607080
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Hyperlipidemia, Insulin-resistant diabetes mellitus, Polycystic ova... ORPHA:79085
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Dysphagia, Agenesis of corpus callosum, Microlissencephaly, Pr... ORPHA:89844
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Distal arthrogryposis, Cachexia, Cardiomegaly, Decreased liver function, Hepatic st... ORPHA:42
Combined Oxidative Phosphorylation Deficiency 35
Dystonia, Failure to thrive, Generalized hypotonia, Spasticity, Cerebral atrophy, Microcephaly OMIM:617873
Dystonia 15, Myoclonic
Dystonia, Writer's cramp OMIM:607488
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Dystonia, Joint hypermobility, Ataxia, Inability to walk, Generalized hypotonia, Cerebral atrophy... OMIM:617804
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Generalized bone demineralization, Failure to thrive, Weight loss, Hepatitis,... ORPHA:199299
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Cardiomyopathy, Peripheral axonal neuropathy, Decreased motor nerve conduct... OMIM:610100
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Ascites, Sclerosing cholangitis, F... ORPHA:2137
Atypical Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Dysphagia, Rigidity, Oromandibular dystonia, Focal dystonia, Spasticity, Limb d... ORPHA:216873
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Dysphagia, Ataxia ORPHA:1171
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Abnormal cortical bone morphology, Pachygyria, Gray matter heter... ORPHA:2512
Paroxysmal Non-Kinesigenic Dyskinesia
Joint stiffness, Dystonia, Torticollis, Rigidity ORPHA:98810
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Hepatic steatosis, Elevated hepatic transaminase, Transient hyperlipi... OMIM:255120
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Peripheral hypomyelination, Decreased number of peripheral myelinated nerve... OMIM:609311
Adult Krabbe Disease
CNS demyelination, Peripheral demyelination, Abnormal corpus callosum morphology, Erectile dysfun... ORPHA:206448
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Bilateral generalized polymicrogyria, Oral-pharyngeal dysphagia, Leukoencephalopathy, A... ORPHA:178469
Rapid-Onset Dystonia-Parkinsonism
Dysphagia, Torticollis, Bradykinesia, Craniofacial dystonia, Generalized hypotonia, Gait ataxia, ... ORPHA:71517
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Myoclonus-Dystonia Syndrome
Torticollis, Dystonia, Writer's cramp ORPHA:36899
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Griscelli Syndrome
Hepatomegaly, Ascites, Short stature, Hepatitis, Splenomegaly, Iris hypopigmentation, Jaundice ORPHA:381
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Hyperlipidemia, Insulin-resistant diabetes mellitus, Polycystic ova... ORPHA:435651
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Peripheral axonal at... OMIM:600882
Dystonia 12
Dystonia, Dysphagia, Torticollis, Bradykinesia, Unsteady gait OMIM:128235
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Cach Syndrome
Secondary amenorrhea, Dysphagia, Cataract, Dysmetria, Arthrogryposis multiplex congenita, Dysgyri... ORPHA:135
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Partial agenesis of the corpus callosum, Basal ganglia necrosis, Small for gestational ... ORPHA:79243
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Inability to walk, Diffuse cerebral atrophy, Oculogyric crisis, Delayed menarche, Diffi... ORPHA:330050
Microsporidiosis
Sinusitis, Myocarditis, Cholangitis, Hepatitis, Infectious encephalitis, Lymphadenitis, Osteomyel... ORPHA:2552
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Splenomegaly, Accessory spleen, Prolonged neonatal jaundice, Ve... OMIM:619418
Filippi Syndrome
Dystonia, Decreased body weight, Ambiguous genitalia, Cryptorchidism, Microcephaly OMIM:272440
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation OMIM:618279
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Hypoplasia of the corpus callosum ORPHA:2386
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Growth delay, Short stature, Epiphyseal stippling, Failure to thrive, Cataract, Typ... ORPHA:251009
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Cirrh... OMIM:604367
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Decreased nerve conduction velocity ORPHA:99944
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Spastic gait, Focal T2 hyperintense basal ganglia lesion, Bradykinesia, Spastic tet... OMIM:619052
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination OMIM:162500
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Short stature, Micronodular cirrhosis, Cardiomyopathy, Hepatic steatosis, Subcapsul... ORPHA:98907
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... ORPHA:171
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Intrauterine growth retardation, Cardiomyopathy, Splenomegaly, Hypogonadism, Flexio... OMIM:608540
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... OMIM:605253
Dystonia, Dopa-Responsive
Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rigidity, Dysdiadochokinesis, Spast... OMIM:128230
Dpm1-Cdg
Hypoplasia of the frontal lobes, Optic atrophy, Hepatomegaly, Hepatic fibrosis, Failure to thrive... ORPHA:79322
Alg3-Cdg
Dystonia, Cerebral white matter atrophy, Abnormal cerebral morphology, Abnormality of the endocri... ORPHA:79321
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypotonia, Dystonia, Spasticity, Generalized hypotonia OMIM:616277
Graft Versus Host Disease
Inflammatory abnormality of the skin, Stiff interphalangeal joints, Pneumonia, Stomatitis, Myosit... ORPHA:39812
Charcot-Marie-Tooth Disease, Type 4K
Peripheral demyelination, Axonal loss OMIM:616684
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Intrauterine growth retardation, Short stature, Aplasia/... ORPHA:290
Dysbetalipoproteinemia
Hepatomegaly, Corneal arcus, Gout, Hypercholesterolemia, Hepatic steatosis, Xanthelasma, Acute pa... ORPHA:412
Retinopathy, Pigmentary, And Mental Retardation
Truncal obesity, Joint hypermobility, Hypogonadism, Moderately short stature, Cataract, Microcephaly OMIM:268050
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Decreased 3... ORPHA:71212
Hurler-Scheie Syndrome
Hepatomegaly, Short stature, Rhinitis, Cardiomyopathy, Splenomegaly, Corneal opacity, Abnormal he... ORPHA:93476
Galloway-Mowat Syndrome 5
Pachygyria, Peripheral demyelination, Microcephaly OMIM:617731
Glycogen Storage Disease Iii
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Short stature, Ventricular hypertrophy, Cardiomyo... OMIM:232400
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Intrauterine growth retardation, Epiphyseal stippling, Failure to thrive, Abnormal ... OMIM:614866
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Dysphagia, Limb hypertonia, Hyperactivity, Inability to walk, Hypoplasia of the corpus ... ORPHA:500180
Mitochondrial Complex I Deficiency, Nuclear Type 2
Dystonia, Difficulty walking, Generalized hypotonia OMIM:618222
Aicardi-Goutieres Syndrome 4
Dystonia, Cerebral calcification, Death in childhood, Splenomegaly, Hepatosplenomegaly, Progressi... OMIM:610333
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... ORPHA:79084
Spinocerebellar Ataxia Type 28
Dystonia, Rigidity, Spasticity, Limb ataxia, Gait ataxia, Limb dystonia ORPHA:101109
Galactosemia I
Hepatomegaly, Failure to thrive, Decreased liver function, Cirrhosis, Cataract, Premature ovarian... OMIM:230400
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Failure to thrive in infancy, Adrenal insufficiency, Hypoparathyroidism, ... ORPHA:231226
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Failure to thrive, Simplified gyral pattern, Abnormal cerebral white matter morphology,... OMIM:614407
Peroxisome Biogenesis Disorder 7A (Zellweger)
Epiphyseal stippling, Hepatomegaly, Cataract, Jaundice OMIM:614872
Neuroferritinopathy
Dystonia, Arm dystonia, Leg dystonia, Dysphagia, Writer's cramp, Caudate atrophy, Abnormal caudat... ORPHA:157846
Partington Syndrome
Focal dystonia, Lower limb spasticity, Flexion contracture, Camptodactyly, Limb dystonia OMIM:309510
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatomegaly, Secondary amenorrhea, Dysmenorrhea, Polycystic ovaries... ORPHA:2348
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Small for gestational age, Failure to thrive, Spasticity, Generalized hypotonia, Hypotonia OMIM:614702
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Axonal regeneration, Decre... OMIM:605285
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Intrauterine growth retardation, Hyperlipidemia, Craniosynostosis, Art... ORPHA:254346
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers ORPHA:497764
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Anencephaly, Decreased testicular size, Micropenis, Spasticity, Gray matter heterotopia, Opacific... OMIM:615287
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Eczema, Pneumonia, Failure to thrive secondary to recurrent infections, Splenomegal... OMIM:608971
Dystonia 27
Oromandibular dystonia, Laryngeal dystonia, Writer's cramp OMIM:616411
Lissencephaly 8
Hypoplasia of the corpus callosum, Polymicrogyria, Cataract, Spasticity, Lissencephaly, Muscular ... OMIM:617255
Neu-Laxova Syndrome
Abnormality of neuronal migration, Rickets, Polymicrogyria, Pterygium, Osteomalacia, Abnormal cor... ORPHA:2671
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Dystonia, Joint contractures involving the joints of the feet, Inability to walk, Infantile muscu... ORPHA:457205
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Failure to thrive, Reduced bone mineral density, Splenomegaly, Chole... ORPHA:172
Gaucher Disease Type 2
Dystonia, Dysphagia, Splenomegaly, Spasticity, Flexion contracture ORPHA:77260
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Failure to thrive, Cataract, Left ventricular noncompaction, Microce... OMIM:617228
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevat... OMIM:214900
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Failure to thrive in infancy, Short stature, Hepatitis, Splenomegaly, Hypersplenism... OMIM:613385
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hyperlipidemia, Increased hepatic glycogen content, Short st... ORPHA:79259
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:605588
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Short stature, Hypogonadotropic hypogonadism, Motor axonal neuro... ORPHA:48431
Pseudo-Torch Syndrome 1
Hepatomegaly, Failure to thrive, Splenomegaly, Decreased liver function, Pachygyria, Polymicrogyr... OMIM:251290
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Megalencephaly, Osteoporosis, I... ORPHA:3063
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Dysphagia, Dysmetria, Hypogonadotropic hypogonadism, Ataxia, Spasticity, Hypoplasia of ... OMIM:607694
Spinocerebellar Ataxia 14
Dysphagia, Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Attention deficit hyperactiv... OMIM:605361
Chylomicron Retention Disease
Growth delay, Hypocholesterolemia, Failure to thrive, Increased hepatocellular lipid droplets, He... ORPHA:71
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Dystonia, Dysmetria, Lower limb spasticity, Spastic tetraparesis, Ataxia, Spastic paraplegia, Abn... OMIM:612319
Cerebral Palsy, Spastic Quadriplegic, 3
Dysphagia, Spastic tetraplegia, Spastic diplegia, Spasticity, Gray matter heterotopia, Microcephaly OMIM:617008
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Abnormal corpus striatum morphology, Developmental cataract, Hip contr... ORPHA:319514
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Hypertonia, Progressive microcephaly, Spasticity, Abnormal erythrocyte morpholo... ORPHA:71277
Congenital Isolated Acth Deficiency
Hepatitis, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, Prolonged neo... ORPHA:199296
Morm Syndrome
Hyperactivity, Micropenis, Cataract, Truncal obesity ORPHA:75858
Leigh Syndrome With Leukodystrophy
Dystonia, Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Anemia, Progressive cere... ORPHA:255241
Steinert Myotonic Dystrophy
Hypergonadotropic hypogonadism, Endometrial carcinoma, Diabetes mellitus, Oral-pharyngeal dysphag... ORPHA:273
Cimdag Syndrome
Dystonia, Developmental cataract, Cholelithiasis, Primary microcephaly, Hypogonadism, Ataxia, Pol... OMIM:619273
Lissencephaly 6 With Microcephaly
Partial agenesis of the corpus callosum, Limb hypertonia, Microlissencephaly, Periventricular het... OMIM:616212
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Optic atrophy, Intrauterine growth retardation, Growth delay, Severe demy... ORPHA:79282
Q Fever
Myocarditis, Hepatomegaly, Pericarditis, Infectious encephalitis, Pneumonia, Endocarditis, Perica... ORPHA:781
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Death in childhood, Lissencephaly, Pachygyria, Corneal opacity, Agyria, Cataract, Abnormal cerebr... OMIM:613153
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Spleno... OMIM:616828
Autosomal Recessive Dopa-Responsive Dystonia
Rigidity, Bradykinesia, Focal dystonia, Ataxia, Limb dystonia, Generalized dystonia, Generalized ... ORPHA:101150
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Dysphagia, Death in childhood, Posterior atrophy of corpus callosum, Ataxia, Cerebral a... OMIM:619422
Walker-Warburg Syndrome
Abnormal cortical gyration, Abnormality of neuronal migration, Hypoplasia of penis, Absent septum... ORPHA:899
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Eczema, Short stature, Decreased body weight, Postnatal growth retardation, Cataract, Cryptorchid... OMIM:612947
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Infertility, Upper limb spasticity, Spastic gait, Lower limb spasticity, Li... OMIM:614409
Cockayne Syndrome B
Splenomegaly, Postnatal growth retardation, Cerebral atrophy, Basal ganglia calcification, Opacif... OMIM:133540
Spinocerebellar Ataxia 28
Dystonia, Hypertonia, Spasticity, Limb ataxia, Gait ataxia OMIM:610246
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Giant cell hepatitis, Cholelithiasis, Camptodactyly of finger, Jaundice OMIM:214980
Intellectual Disability-Cataracts-Kyphosis Syndrome
Failure to thrive, Knee flexion contracture, Iris coloboma, Cataract, Elbow flexion contracture ORPHA:171860
Baker-Gordon Syndrome
Dystonia, Joint laxity, Ataxia, Inability to walk, Neonatal hypotonia OMIM:618218
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Cardiomyopathy, Decreased liver function, Hepatic steatosis, Pachygyria, CNS hypomy... OMIM:614922
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Dystonia, Ataxia, Generalized hypotonia OMIM:618224
Progressive Myoclonic Epilepsy With Dystonia
Microcephaly, Dystonia, Generalized neonatal hypotonia, Diffuse cerebral atrophy ORPHA:352596
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Paroxysmal lethargy, Ataxia, Spasticity, Secondary microcephaly, Lethargy OMIM:606777
Neurodegeneration With Brain Iron Accumulation
Dystonia, Spasticity, Rigidity ORPHA:385
3-Methylglutaconic Aciduria Type 7
Growth delay, Cardiomyopathy, Primary microcephaly, Hepatic steatosis, Cataract, Hypothyroidism, ... ORPHA:445038
Brain Small Vessel Disease 2
Schizencephaly, Spastic tetraplegia, Subcortical heterotopia, Porencephalic cyst, Polymicrogyria OMIM:614483
Hemimegalencephaly
Hemimegalencephaly, Pachygyria, Polymicrogyria, Gray matter heterotopia, Focal cortical dysplasia... ORPHA:99802
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Hyperlipidemia, Insulin-resistant diabetes mellitus, Polycystic ova... ORPHA:435660
Allan-Herndon-Dudley Syndrome
Dystonia, Failure to thrive in infancy, Limb hypertonia, Small for gestational age, Decreased bod... ORPHA:59
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Epiphyseal stippling, Colpocephaly, Decreased liver function, Pachygyria OMIM:614870
Spinocerebellar Ataxia 17
Dystonia, Dysphagia, Rigidity, Dysmetria, Bradykinesia, Ataxia, Broad-based gait, Diffuse cerebra... OMIM:607136
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur... ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Failure to thrive, Osteoporosis, Splenomegaly, Osteopenia, Hepatic steatosis, Hyper... OMIM:613327
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysphagia, Dysmetria, Bradykinesia, Ataxia OMIM:618317
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Failure to thrive in infancy, Hepatitis, Cirrhosis, Acute hepatic failure, Hepatospl... ORPHA:228426
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Pericarditis, Hepatitis, Arthritis, Splenomegaly, Skin rash, Elevated ... ORPHA:829
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism, Cataract OMIM:254000
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Dystonia, Simplified gyral pattern, Thin corpus callosum, Cataract, Spasticity, Cerebral atrophy,... OMIM:619286
Leber Congenital Amaurosis
Hypotonia, Abnormality of neuronal migration, Keratoconus, Cataract ORPHA:65
Pontocerebellar Hypoplasia, Type 2C
Dystonia, Microcephaly OMIM:612390
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Pneumonia, Failure to thrive secondary to recurrent infections, Chronic oral candid... ORPHA:169160
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Dystonia, Partial agenesis of the corpus callosum, Spastic paraplegia, Spastic tetraplegia, Ataxi... OMIM:245349