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Gene: Ppm1l MGI:2139740

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
protein phosphatase 1 (formerly 2C)-like
Synonyms:
Pp2ce,  PP2C-epsilon,  5930404J21Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ppm1l 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 Ppm1l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia OMIM:608320
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... ORPHA:71529
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Dystonia, Ataxia, Dysesthesia, Head titubation, Cerebral atrophy, CNS hypomyelination, Hypoplasia... ORPHA:527497
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Delayed CNS myelination, Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum... OMIM:620317
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, CNS hypomyelination, Leukodystrophy, Hypoplasia of the corpus callosum OMIM:616494
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Dysmetri... OMIM:610245
Leukoencephalopathy, Brain Calcifications, And Cysts
Cerebral calcification, Ataxia, Tremor, Leukoencephalopathy, Gait disturbance, Leukodystrophy, Dy... OMIM:614561
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... OMIM:608600
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Leukoencephalopathy, Cystic, Without Megalencephaly
Cerebral calcification, Ataxia, Microcephaly, Leukoencephalopathy, Athetosis, Abnormal CNS myelin... OMIM:612951
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hydrocephalus, Unsteady gait, Agenesis of corpus callosum OMIM:617542
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications
Delayed CNS myelination, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Cerebra... OMIM:618875
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Ataxia, Thin corpus callosum, CNS hypomyelination OMIM:619688
Leukodystrophy, Hypomyelinating, 15
Dystonia, Ataxia, Microcephaly, Cerebral atrophy, CNS hypomyelination, Athetosis, Leukodystrophy,... OMIM:617951
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Postural tremor, Tremor, Dysmetria, CNS hypomyelination, Hypoplasia of the corp... OMIM:607694
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Microcephaly, Diffuse white matter abnormalities, Secondary microcephaly, Leukodystrophy, Dystonia OMIM:616763
Tremor-Ataxia-Central Hypomyelination Syndrome
Dystonia, Ataxia, Postural tremor, Impaired distal proprioception, Impaired vibration sensation i... ORPHA:447896
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... ORPHA:79326
Stxbp1-Related Encephalopathy
Cerebral white matter atrophy, Ataxia, Tremor, Inability to walk, Dysplastic corpus callosum, Del... ORPHA:599373
Spastic Paraplegia 44, Autosomal Recessive
Ataxia, Dysmetria, Distal sensory impairment, CNS hypomyelination, Hypoplasia of the corpus callo... OMIM:613206
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Gl... OMIM:610947
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Delayed CNS myelination, Microcephaly, Inability to walk, Cerebral atrophy, Abnormal cerebral whi... OMIM:616657
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Torticollis, Head titubation, Truncal ataxia, Limb ataxia, CNS hypomyelination, Leukodystrophy, L... OMIM:617560
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... OMIM:604213
Autosomal Recessive Spastic Paraplegia Type 67
Limb tremor, Cerebral cortical atrophy, Difficulty walking, Abnormal myelination, Agenesis of cor... ORPHA:401820
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Tremor, Dysmetria, CNS hypomyelination, Gait ataxia, Dysdiadochokinesis, Hypopl... OMIM:614381
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Hypointensity of cerebral white matter on MRI, Ataxia, Leukodystrophy, Dystonia OMIM:619196
4H Leukodystrophy
Ataxia, Tremor, Dysmetria, Striatal T2 hyperintensity, Progressive gait ataxia, Dysdiadochokinesi... ORPHA:289494
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Cerebral dysmyelination, Microcep... OMIM:312080
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Myocardial infarction, Congestive heart failure, Insulin resistance, Obesit... OMIM:615703
Microcephaly 19, Primary, Autosomal Recessive
Delayed CNS myelination, Microcephaly, Simplified gyral pattern, Hypoplasia of the corpus callosu... OMIM:617800
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... OMIM:600638
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Microcephaly, Inability to walk, CNS hypomyelination, Choreoathetosis, Thin corpus callosum OMIM:620023
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Gait disturbance, Hypoplasia of the corpus callosum, Leukodystrophy OMIM:616859
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Leukodystrophy, Hypomyelinating, 5
Cerebral white matter atrophy, Truncal titubation, CNS hypomyelination, Leukodystrophy, Loss of a... OMIM:610532
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large for gestational age OMIM:256450
Hereditary Methemoglobinemia
Microcephaly, Delayed myelination, Temporal cortical atrophy, Athetosis, Limb dystonia, Cerebral ... ORPHA:621
Developmental And Epileptic Encephalopathy 5
Reduced cerebral white matter volume, Microcephaly, Cerebral atrophy, CNS hypomyelination, Hypopl... OMIM:613477
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Delayed CNS myelination, Ataxia, Impaired distal proprioception, Microcephaly, Impaired distal vi... OMIM:619742
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Diffuse cerebral atrophy, Dystonia, Ataxia, Microcephaly, Dysmetria, Hypoplasia of the corpus cal... ORPHA:438114
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age OMIM:601820
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Ataxia, Hypoplasia of the corpus callosum, Leukoencephalopathy, CNS hypomyelination OMIM:615281
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Ventriculomegaly, Microcephaly, Simplified gyral pattern, Cerebral atrophy, CNS hypomyelination, ... OMIM:615760
Null Syndrome
Ataxia, Inability to walk, CNS hypomyelination, Difficulty walking, Peripheral demyelination, Dem... ORPHA:280234
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Truncal obesity, Abdominal obesity, Hypertension, Ty... OMIM:615812
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity, Hyperlipidemia ORPHA:329249
Developmental And Epileptic Encephalopathy 79
CNS hypomyelination, Frontotemporal cerebral atrophy, Secondary microcephaly, Hypoplasia of the c... OMIM:618559
Kaya-Barakat-Masson Syndrome
Microcephaly, Cerebral atrophy, CNS hypomyelination, Hypoplasia of the corpus callosum, Limb dyst... OMIM:619125
Developmental And Epileptic Encephalopathy 78
Inability to walk, CNS hypomyelination, Chorea, Microcephaly OMIM:618557
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal... ORPHA:500166
Lissencephaly 4
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... OMIM:614019
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral white matter atrophy, Microcephaly, Corpus callosum atrophy, CNS hypomyelination, Cerebr... ORPHA:369939
Leukodystrophy, Hypomyelinating, 6
Ataxia, Microcephaly, Tremor, Choreoathetosis, Leukodystrophy, Dystonia, Cerebral hypomyelination OMIM:612438
Leukodystrophy, Hypomyelinating, 2
Ataxia, Demyelinating motor neuropathy, Head titubation, Cerebral atrophy, Choreoathetosis, Leuko... OMIM:608804
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Ataxia, CNS hypomyelination ORPHA:88637
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Microcephaly, Inability to walk, Dysplastic corpus callosum, Dystonia OMIM:618276
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Inability to walk by childhood/adolescenc... OMIM:214400
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:604367
Folinic Acid-Responsive Seizures
Broad-based gait, Ataxia, Delayed myelination, Chorea, Frontotemporal cerebral atrophy, Difficult... ORPHA:79097
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Dystonic gait, Confluent hyperintensity of cerebral white matter on MRI, Tituba... ORPHA:280219
Developmental And Epileptic Encephalopathy 86
CNS hypomyelination, Dystonia, Microcephaly OMIM:618910
Glutamine Deficiency, Congenital
CNS hypomyelination, Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus c... OMIM:610015
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Delayed CNS myelination, Microcephaly, Inability to walk, CNS hypomyelination, Hypoplasia of the ... OMIM:616577
Developmental And Epileptic Encephalopathy 76
Delayed CNS myelination, Microcephaly, Inability to walk, Cerebral atrophy, Periventricular white... OMIM:618468
Retinal Dystrophy With Leukodystrophy
Waddling gait, Truncal titubation, Dysmetria, CNS hypomyelination, Falls, Progressive microcephaly OMIM:618863
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Dystonia, Inability to walk, Partial agenesis of the corpus callosum... ORPHA:300570
Lissencephaly 8
Ventriculomegaly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral hypomyelination, Poly... OMIM:617255
Developmental And Epileptic Encephalopathy 4
Delayed CNS myelination, Tremor, Cerebral atrophy, Choreoathetosis, Hypoplasia of the corpus call... OMIM:612164
Multiple Mitochondrial Dysfunctions Syndrome 4
Abnormal periventricular white matter morphology, Leukodystrophy OMIM:616370
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Delayed CNS myelination, Broad-based gait, Microcephaly, Inability to walk, Simplified gyral patt... OMIM:619884
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral hypomyelination, Dystonia, Cerebral atrophy, Microcephaly OMIM:300475
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum OMIM:613162
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Developmental And Epileptic Encephalopathy 93
Microcephaly, Inability to walk, Cerebral atrophy, CNS hypomyelination, Gait disturbance, Hypopla... OMIM:618012
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Amyotrophic lateral sclerosis, Dystonia, Ataxia, Microcephaly, Head titubation, I... ORPHA:300605
Leukodystrophy, Childhood-Onset, Remitting
Abnormal cerebral white matter morphology, Gait disturbance, Leukodystrophy OMIM:619864
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Delayed CNS myelination, Generalized dystonia, Inability to walk, Partial agenesis of the corpus ... OMIM:619653
Leukoencephalopathy With Vanishing White Matter 1
Cessation of head growth, Unsteady gait, Leukoencephalopathy, CNS demyelination, Gait disturbance... OMIM:603896
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Leukoencephalopathy, Hand tremor, Lateral ventricle dilatation, Dystonia, Progressive leu... OMIM:615889
Leukodystrophy, Hypomyelinating, 10
Reduced cerebral white matter volume, Inability to walk, Cerebral atrophy, CNS hypomyelination, S... OMIM:616420
Pelizaeus-Merzbacher Disease, Connatal Form
Ataxia, Inability to walk, Dystonic gait, Confluent hyperintensity of cerebral white matter on MR... ORPHA:280210
Neurodegeneration With Brain Iron Accumulation 7
Dystonia, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Hypoplasia of the corpus callosum, Leukody... OMIM:617916
Congenital Disorder Of Glycosylation, Type Iiy
Delayed CNS myelination, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Th... OMIM:620200
Autosomal Recessive Spastic Paraplegia Type 66
Impaired vibration sensation in the lower limbs, Colpocephaly, Difficulty walking, Hypoplasia of ... ORPHA:401815
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Severe demyelination of the white matter, Gait ataxia, Gai... ORPHA:488635
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Ataxia, Severe demyelination of the white matter, Inability to walk, CNS hypomyelination, Hypopla... ORPHA:481152
Developmental And Epileptic Encephalopathy 29
Microcephaly, Chorea, Cerebral atrophy, CNS hypomyelination, Blepharospasm, Limb dystonia OMIM:616339
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Microcephaly, Simplified gyral pattern, Cerebral atrophy, CNS hypomyelination, Dystonia, Thin cor... OMIM:619286
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogly... ORPHA:324575
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Ataxia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial ... OMIM:615771
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Insulin resistance ORPHA:140941
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Ataxia, Microcephaly, Limb ataxia, Hand tremor, Degeneration of a... OMIM:607596
Developmental And Epileptic Encephalopathy 17
Delayed CNS myelination, Inability to walk, Chorea, Cerebral atrophy, Athetosis, Hypoplasia of th... OMIM:615473
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,... ORPHA:45452
Pelizaeus-Merzbacher Disease In Female Carriers
Inability to walk, CNS hypomyelination, Gait disturbance, Difficulty walking, Hyperintensity of c... ORPHA:280229
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Delayed CNS myelination, Ataxia, Microcephaly, Inability to walk, Gait ataxia, CNS hypomyelinatio... OMIM:619580
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Ataxia, Difficulty walking, CNS hypomyelination ORPHA:320401
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Delayed CNS myelination, Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal ... OMIM:617668
Leukoencephalopathy With Vanishing White Matter 5
Megalencephaly, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Loss of ... OMIM:620315
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Cerebral calcification, Ataxia, Hydroc... ORPHA:73256
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Pontocerebellar Hypoplasia, Type 15
Delayed CNS myelination, Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral... OMIM:619302
Giant Axonal Neuropathy
Unsteady gait, Distal sensory impairment, CNS hypomyelination, Falls, Difficulty walking ORPHA:643
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum ORPHA:572013
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly, CNS hypomyelination OMIM:619423
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Hypertension, Abdominal obesity, Increased circulating cortisol level, Hyp... OMIM:615954
Leukodystrophy, Hypomyelinating, 16
Delayed CNS myelination, Broad-based gait, Dystonia, Dysmetria, Gait ataxia, Choreoathetosis, Shu... OMIM:617964
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Multiple Mitochondrial Dysfunctions Syndrome 5
Microcephaly, Delayed myelination, Leukodystrophy, Pachygyria, Ventriculomegaly OMIM:617613
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Adenylosuccinase Deficiency
Microcephaly, Inability to walk, Cerebral atrophy, Gait ataxia, CNS hypomyelination, Opisthotonus... OMIM:103050
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Huppke-Brendel Syndrome
Inability to walk, Cerebral atrophy, CNS hypomyelination OMIM:614482
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Delayed CNS myelination, Ataxia, Leukoencephalopathy, Cerebral atrophy, CNS hypomyelination, Hypo... OMIM:619260
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Narcolepsy Type 1
Syncope, Obesity ORPHA:2073
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Inability to walk, Delayed CNS myelination, Periventricular leukomalacia, Agenesis of corpus call... OMIM:618324
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... ORPHA:300573
Developmental And Epileptic Encephalopathy 75
CNS hypomyelination, Secondary microcephaly, Hypoplasia of the corpus callosum, Frontal cortical ... OMIM:618437
Combined Oxidative Phosphorylation Deficiency 24
CNS hypomyelination, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:616239
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizure... ORPHA:276580
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Ataxia, Microcephaly, Inability to walk, Dysmetria, CNS hypomyelination, Leukodystrophy, Pachygyr... OMIM:619576
Lissencephaly 9 With Complex Brainstem Malformation
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... OMIM:618325
Neuropathy, Congenital Hypomyelinating, 3
Microcephaly, CNS hypomyelination, Hypoplasia of the corpus callosum, Dystonia, Neonatal death OMIM:618186
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Neurodevelopmental Disorder With Language Delay And Seizures
Diffuse cerebral atrophy, Thin corpus callosum, CNS hypomyelination OMIM:619908
Intellectual Developmental Disorder, X-Linked 104
Delayed CNS myelination, Ataxia, Tremor, Hypoplasia of the corpus callosum, Cerebral cortical atr... OMIM:300983
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Microcephaly, Tremor, Abnormal CNS myelination, Difficulty walking, Hypoplasia ... ORPHA:477673
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... OMIM:600348
Pontocerebellar Hypoplasia, Type 14
Delayed CNS myelination, Agenesis of corpus callosum, Simplified gyral pattern, Dystonia OMIM:619301
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Inability to walk, Delayed CNS myelination, Broad-based gait, CNS hypomyelination OMIM:616158
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
2,4-Dienoyl-Coa Reductase Deficiency
Delayed CNS myelination, Dystonia, Ataxia, Microcephaly, Hydrocephalus, Cerebral atrophy, Choreoa... OMIM:616034
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Dysmetria, CNS hypomyelination, Leukodystrophy, Dystonia, Hyperintensity... OMIM:619708
Pyruvate Carboxylase Deficiency
Cerebral white matter atrophy, Ataxia, Tremor, Delayed myelination, Periventricular cysts, CNS hy... ORPHA:3008
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Fasting hypoglycemia... ORPHA:276608
Gaba-Transaminase Deficiency
Agenesis of corpus callosum, Leukodystrophy OMIM:613163
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination ORPHA:85163
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:151660
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Myocardial infarction, Obesity, Hypertension, Type II diabetes mellitus OMIM:618620
Combined Oxidative Phosphorylation Deficiency 11
Delayed myelination, CNS hypomyelination, Stillbirth, Hypoplasia of the corpus callosum, Neonatal... OMIM:614922
Peroxisome Biogenesis Disorder 11A (Zellweger)
Polymicrogyria, Lissencephaly, CNS hypomyelination OMIM:614883
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Microcephaly-Capillary Malformation Syndrome
Delayed myelination, Simplified gyral pattern, Cerebral atrophy, CNS hypomyelination, Hypoplasia ... OMIM:614261
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Insulin resistance, Hyperlipidemia, Hypertension, Abdominal obe... OMIM:615980
Leukodystrophy, Hypomyelinating, 12
Microcephaly, Delayed myelination, Secondary microcephaly, Hypoplasia of the corpus callosum, Cer... OMIM:616683
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Postural hypotension with compensato... ORPHA:369873
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Microcephaly, Simplified gyral pattern, CNS hypomyelination, Hypoplasia of the corpus callosum, P... OMIM:615966
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Dystonia, Ataxia, Microcephaly, Tremor, Inability to walk, Chorea, Cerebral atroph... OMIM:615356
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Delayed CNS myelination, Cerebral atrophy, Impaired tandem gait, Gait disturbance, Falls, Hypopla... OMIM:300423
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Lateral ventricle dilatation, Difficulty walking, Cerebral cortical hemiatrophy ORPHA:306669
Leukodystrophy, Hypomyelinating, 22
Inability to walk, CNS hypomyelination OMIM:619328
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Corpus callosum atrophy, Leukoencephalopathy, Abnormal cerebral whit... OMIM:221820
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul... ORPHA:171680
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Diffuse cerebral atrophy, Ataxia, Microcephaly, Inability to walk, CNS hypomyelination, Secondary... OMIM:617193
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Ataxia, Microcephaly, Falls, Leukodystrophy, Dystonia, Hyperintensity of cerebral white matter on... OMIM:619224
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Gait disturbance, Hypoplasia o... OMIM:618193
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity OMIM:617885
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Delayed CNS myelination, Exaggerated startle response, Microcephaly, CNS hypomyelination, Lateral... OMIM:618367
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Cerebral atrophy, Lateral vent... OMIM:221770
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Dorsocervical fat pad, Increased body weight, Hypertension, Increased circulat... OMIM:615830
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Pachygyria OMIM:614870
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Palpita... ORPHA:276575
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Thick cerebral cortex, Cortical dysplasia, Lateral ventricle dilatation ORPHA:101071
Neurodevelopmental Disorder With Involuntary Movements
Delayed CNS myelination, Microcephaly, Chorea, Cerebral atrophy, Athetosis, Hypoplasia of the cor... OMIM:617493
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension ORPHA:79084
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Dystonia, Ataxia, Dysmyelinating leukodystrophy, Dysmetria, Dysdiadochokinesis, Hypoplasia of the... OMIM:612319
Obesity And Hypopigmentation
Hyperinsulinemia, Overgrowth, Obesity OMIM:620195
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Cerebral white matter atrophy, Ventriculomegaly, Abnormal cortical gyration, Microcephaly, Delaye... ORPHA:79351
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture OMIM:618856
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Ch... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Ch... ORPHA:71526
S-Adenosylhomocysteine Hydrolase Deficiency
Microcephaly, Delayed myelination, CNS hypomyelination, Hypoplasia of the corpus callosum, Hyperi... ORPHA:88618
Myoclonus, Intractable, Neonatal
Delayed CNS myelination, Microcephaly, Chorea, Athetosis, Hypoplasia of the corpus callosum, Prog... OMIM:617235
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent h... ORPHA:276556
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Ataxia, Leukoencephalopathy, Leukodystrophy OMIM:618242
Developmental And Epileptic Encephalopathy 44
Delayed CNS myelination, Cerebral atrophy, Athetosis, Secondary microcephaly, Hypoplasia of the c... OMIM:617132
Mucolipidosis Iv
Dysplastic corpus callosum, Dystonia, Cerebral dysmyelination, Microcephaly OMIM:252650
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Ataxia, Microcephaly, Inability to walk, Partial agenesis of the corpus callosu... ORPHA:79243
Developmental And Epileptic Encephalopathy 74
Choreoathetosis, Delayed CNS myelination, Reduced cerebral white matter volume OMIM:618396
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Leukodystrophy, Hypomyelinating, 9
Dystonia, Ataxia, Microcephaly, Dysmetria, Cerebral atrophy, Leukodystrophy, Hypoplasia of the co... OMIM:616140
Combined Saposin Deficiency
CNS demyelination, Abnormal periventricular white matter morphology, Hypoplasia of the corpus cal... OMIM:611721
Orofaciodigital Syndrome Xvii
Ventriculomegaly, CNS hypomyelination OMIM:617926
Aicardi-Goutieres Syndrome 6
Cerebral calcification, Microcephaly, Tremor, Leukodystrophy, Dystonia, Loss of ambulation OMIM:615010
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... ORPHA:2185
Ddost-Cdg
Tremor, CNS hypomyelination ORPHA:300536
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Loss of ambulation, CNS demyelination, Abnormal periventricular white matter morphol... OMIM:249900
Sandhoff Disease, Infantile Form
Exaggerated startle response, Cerebral cortical atrophy, CNS hypomyelination ORPHA:309155
Peroxisome Biogenesis Disorder 8B
Ataxia, Corpus callosum atrophy, Dysesthesia, Unsteady gait, Limb tremor, Dysmetria, Gait ataxia,... OMIM:614877
Leukodystrophy, Hypomyelinating, 25
Gait ataxia, Delayed CNS myelination, Dystonia, Microcephaly OMIM:620243
Essential Fructosuria
Hyperglycemia ORPHA:2056
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus OMIM:520000
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Tremor, Ataxia, Dysmetria, CNS hypomyelination OMIM:618527
Leukodystrophy, Hypomyelinating, 17
Microcephaly, Inability to walk, Cerebral atrophy, Leukodystrophy, Hypoplasia of the corpus callosum OMIM:618006
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Abnormal CNS myelination, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:521390
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive ORPHA:2089
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
CNS hypomyelination, Simplified gyral pattern, Progressive microcephaly, Microcephaly OMIM:618622
Intellectual Developmental Disorder, Autosomal Dominant 56
Delayed CNS myelination, Broad-based gait, Ataxia, Inability to walk, Delayed myelination, Latera... OMIM:617854
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Delayed CNS myelination, Ataxia, Microcephaly, Chorea, Dystonia, Abnormal periven... OMIM:619725
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Lateral ventricle dilatation, Di... ORPHA:77299
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Delayed CNS myelination, Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle... OMIM:619517
Peroxisome Biogenesis Disorder 6B
Impaired vibratory sensation, Ataxia, Impaired distal vibration sensation, Unsteady gait, Limb at... OMIM:614871
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Delayed CNS myelination, Ataxia, Head titubation, Dysmetria, Leukodystrophy, Intention tremor OMIM:618688
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Diabetes mellitus, Obesity OMIM:615981
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Tremor, Dysplastic corpus callosum, Hypoesthesia, Secondary microce... OMIM:619737
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Primary microcephaly OMIM:618266
Developmental And Epileptic Encephalopathy 72
Delayed CNS myelination, Inability to walk, Cerebral atrophy, Periventricular white matter hyperi... OMIM:618374
Frontal Encephalocele
Hydrocephalus, Cerebral calcification, Leukodystrophy, Aplasia/Hypoplasia of the corpus callosum ORPHA:1931
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia OMIM:145750
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Delayed CNS myelination, Microcephaly, Impaired tactile sensation, Hypoplasia of the corpus callo... OMIM:619091
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Inability to walk, Abnormal cerebral white matter morphology, Lateral v... OMIM:613443
Marbach-Rustad Progeroid Syndrome
Hyperintensity of cerebral white matter on MRI, CNS hypomyelination, Intention tremor, Microcephaly OMIM:619322
Pyruvate Carboxylase Deficiency
Athetosis, Periventricular leukomalacia, Neuronal loss in the cerebral cortex, Leukodystrophy OMIM:266150
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Microcephaly 10, Primary, Autosomal Recessive
Delayed CNS myelination, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral... OMIM:615095
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Scissor gait, Lateral ventricle dilatation, Dilated thi... ORPHA:363654
Sandhoff Disease
Exaggerated startle response, Impaired temperature sensation, Ataxia, CNS hypomyelination OMIM:268800
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Delayed CNS myelination, Microcephaly, Chorea, Choreoathetosis, Athetosis OMIM:309541
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Ventriculomegaly, Abnormal cortical gyration, Dysplastic corpus callosum, Ch... ORPHA:2524
Leukodystrophy, Hypomyelinating, 24
Microcephaly, Cerebral atrophy, Leukodystrophy, Thin corpus callosum, Ventriculomegaly OMIM:619851
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Allan-Herndon-Dudley Syndrome
Delayed CNS myelination, Ataxia, Microcephaly, Inability to walk, Athetosis, Leukodystrophy OMIM:300523
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Cerebral calcification, Hydrocephalus, Cerebral atrophy, Leukodystrophy, Dyston... OMIM:610333
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb dystonia, Microcephaly, Inability to walk, Hypoplasia of the corpus callosum, Primary microc... ORPHA:457351
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Hengel-Maroofian-Schols Syndrome
Microcephaly, Inability to walk, Cerebral atrophy, Abnormal CNS myelination, Gait imbalance, Dyst... OMIM:619641
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Delayed CNS myelination, Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, H... OMIM:615599
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Decreased circulating cortisol level, Obesity, Reactive hypoglycemia OMIM:600955
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Microcephaly, Cerebral atrophy, CNS hypomyelination, Hippocampal atrophy, Hypoplasia of the corpu... OMIM:618922
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Ataxia, Secondary microcephaly, Hypoplasia of the corpus callosum, Primary microcephaly... ORPHA:496641
Leukodystrophy, Hypomyelinating, 13
Delayed CNS myelination, Exaggerated startle response, Ataxia, Secondary microcephaly, Leukodystr... OMIM:616881
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Delayed CNS myelination, Broad-based gait, Reduced cerebral white matter volume, Microcephaly, Ga... OMIM:617807
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Abnormal cerebral white matter morphology, Ventriculomegaly, Hypoplasia of the corpus callosum, C... OMIM:614501
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Dysplastic corpus ca... ORPHA:488627
Schilder Disease
Hyperintensity of cerebral white matter on MRI, CNS demyelination, Ataxia ORPHA:59298
Hogue-Janssen Syndrome 2
Delayed CNS myelination, Microcephaly, Inability to walk, Hydrocephalus, Gait ataxia, Hypoplasia ... OMIM:616362
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:619420
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Abnormal basal ganglia MRI signal intensity, Dystonia, Microcephaly, Choreoathetosis, Leukodystro... ORPHA:431361
Mitochondrial Complex I Deficiency, Nuclear Type 5
Ataxia, Microcephaly, Leukoencephalopathy, Leukodystrophy, Dystonia, Focal T2 hyperintense basal ... OMIM:618226
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Limb dystonia, Delayed CNS myelination, Cerebral atrophy, Hypoplasia of the corpus callosum, Leuk... OMIM:620269
Aicardi-Goutieres Syndrome 5
Intracerebral periventricular calcifications, Microcephaly, Basal ganglia calcification, Deep whi... OMIM:612952
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Cerebral hypomyelination, Secondary microcephaly, Primary microcephaly OMIM:612949
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Delayed CNS myelination, Dystonia, Microcephaly, Tremor, Inability to walk, Head titubation, Cere... OMIM:618877
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Secondary microcephaly, Hypoplasia of the corpus callosum, CNS hypomyel... OMIM:619306
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Delayed myelination, Simplified gyral pattern, Lateral ventricle dilatation, Lissencephaly, Hypop... ORPHA:284417
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hypertriglyceridemia, Lipodystrophy, Hypertension OMIM:615238
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia OMIM:604484
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Delayed CNS myelination, Microcephaly OMIM:618731
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly OMIM:619955
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... OMIM:620156
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Thick cerebral cortex, Dystonia, Ataxia, Dysplastic corpus callosum, In... ORPHA:357058
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Delayed CNS myelination, Ventriculomegaly, Ataxia, Microcephaly, Hydrocephalus, Colpocephaly, Per... OMIM:619833
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... OMIM:616222
Developmental And Epileptic Encephalopathy 71
CNS demyelination, Simplified gyral pattern OMIM:618328
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Delayed CNS myelination, Microcephaly, Hypoplastic anterior commissure, Hypoplasia of the corpus ... OMIM:616975
Peripartum Cardiomyopathy
Tachycardia, Diabetes mellitus, Right ventricular failure, Cardiogenic shock, Congestive heart fa... ORPHA:563
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Summitt Syndrome
Obesity OMIM:272350
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Ataxia, Tremor, Delayed myelination, Leukoencephalopathy, Cerebral atro... ORPHA:572798
Combined Oxidative Phosphorylation Defect Type 39
Microcephaly, Corpus callosum atrophy, Deep white matter hypodensities, Leg dystonia, Cerebral at... ORPHA:565624
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... OMIM:616900
Leukodystrophy, Hypomyelinating, 4
Choreoathetosis, Secondary microcephaly, Leukodystrophy, Head titubation OMIM:612233
Cach Syndrome
Microcephaly, Dysmyelinating leukodystrophy, Cerebral atrophy, Dysmetria, Limb ataxia, Lateral ve... ORPHA:135
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre... ORPHA:97279
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Inability to walk, Lateral ventricle dilatation, Thin corpus callosum, Microcephaly OMIM:615716
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Overweight, Obesity, Mitral regurgitation, Pulmonary arterial hypertension OMIM:614651
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Overweight, Dilated cardiomyopathy, Renovascular hypertension, Type II diab... ORPHA:401923
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination, Dystonia OMIM:250850
Adult Krabbe Disease
Somatic sensory dysfunction, Broad-based gait, Ataxia, Abnormal pyramidal tract morphology, Impai... ORPHA:206448
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Diabetes mellitus, Small for gestational age, Increased body weight OMIM:274300
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, CNS demyelination, Dystonia OMIM:618237
Adrenocortical Carcinoma
Diabetes mellitus, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... ORPHA:1501
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Delayed CNS myelination, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus cal... OMIM:614105
Fucosidosis
Dystonia, Spastic gait, Cerebral atrophy, CNS hypomyelination OMIM:230000
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Frontal polymicrogyria, Ataxia, Lateral ventricle dilatation, T... OMIM:608629
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum OMIM:614833
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Leukodystrophy, Dystonia OMIM:614932
Morgagni-Stewart-Morel Syndrome
Hypertension, Diabetes mellitus, Hypercholesterolemia, Obesity ORPHA:77296
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased body weight, Increased proinsulin:insulin ratio ORPHA:94086
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Delayed CNS myelination, Multifocal cerebral wh... OMIM:600721
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Delayed CNS myelination, Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventr... OMIM:617296
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Fast... ORPHA:263455
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly OMIM:618736
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Snijders Blok-Fisher Syndrome
Choreoathetosis, Delayed CNS myelination, Hypoplasia of the corpus callosum, Opisthotonus OMIM:618604
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Microcephaly, Diffuse white matter abnormalities, Lateral ventricle dilatation... ORPHA:208447
Chromosome 8Q21.11 Deletion Syndrome
Hypoplasia of the corpus callosum, CNS hypomyelination OMIM:614230
Peroxisomal Acyl-Coa Oxidase Deficiency
CNS demyelination, Leukodystrophy, Dystonia OMIM:264470
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Glutaric Acidemia I
Hydrocephalus, Delayed myelination, Opisthotonus, Choreoathetosis, Symmetrical progressive periph... OMIM:231670
Multiple Mitochondrial Dysfunctions Syndrome 3
Microcephaly, Cerebral atrophy, Leukodystrophy, Hypoplasia of the corpus callosum, Polymicrogyria... OMIM:615330
Pontocerebellar Hypoplasia, Type 13
Microcephaly, Inability to walk, Gait ataxia, Lateral ventricle dilatation, Hypoplasia of the cor... OMIM:618606
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lateral ventricle dilatation, Steppage ga... OMIM:256850
Retinitis Pigmentosa
Atypical scarring of skin, Type II diabetes mellitus, Hyperinsulinemia, Obesity ORPHA:791
Dpagt1-Cdg
Ataxia, Akinesia, Microcephaly, Tremor, Inability to walk, CNS hypomyelination, Hypoplasia of the... ORPHA:86309
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:2298
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Ataxia, Diffuse white matter abnormalities, Gait apraxia, Leukoencephalopathy, Dysmetria, Lacunar... OMIM:600142
Developmental And Epileptic Encephalopathy 31B
Reduced cerebral white matter volume, Opisthotonus, Colpocephaly, Secondary microcephaly, Agenesi... OMIM:620352
Cerebrooculofacioskeletal Syndrome 1
Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Delayed myelination, CNS dem... OMIM:214150
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Delayed myelination, Abnormal caudate nucleus morphology, Lateral ... ORPHA:2148
Leigh Syndrome
Focal substantia nigra T2 hyperintensity, CNS demyelination, Ataxia, Dystonia OMIM:256000
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Orthostatic... ORPHA:66628
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Diffuse leukoencephalopathy,... OMIM:169500
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Impaired gluco... OMIM:248370
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Recurrent hypoglycemia, Increased circulating cortisol level, Hyperins... ORPHA:79644
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Hyperphosphatasia-Intellectual Disability Syndrome
Cerebral hypomyelination, Ataxia, Gait disturbance ORPHA:247262
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Abnormal CNS myelination, Ventriculomegaly OMIM:611555
Leukodystrophy, Hypomyelinating, 3
Microcephaly, Corpus callosum atrophy, Sudanophilic leukodystrophy, Diffuse cerebral sclerosis, L... OMIM:260600
Marchiafava-Bignami Disease
Ataxia, Abnormal basal ganglia morphology, Gait ataxia, Gait disturbance, CNS demyelination, Abno... ORPHA:221074
Late-Infantile/Juvenile Krabbe Disease
Ataxia, Tremor, Impaired tactile sensation, Abnormal CNS myelination, Gait disturbance, Difficult... ORPHA:206443
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Orthostatic... ORPHA:179494
Short Syndrome
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... OMIM:269880
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... ORPHA:189427
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly OMIM:616602
Familial Renal Glucosuria
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria ORPHA:69076
Malan Overgrowth Syndrome
Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:420179
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Ataxia, Microcephaly, CNS hypomyelination, Gait disturbance, Hypoplasia of the ... ORPHA:268261
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... OMIM:619244
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Delayed myelination, Microcephaly ORPHA:85290
Slc35A2-Cdg
Cerebral white matter atrophy, Microcephaly, Inability to walk, Cortical dysplasia, Delayed myeli... ORPHA:356961
Combined Oxidative Phosphorylation Deficiency 12
Delayed CNS myelination, Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpu... OMIM:614924
Donohue Syndrome
Adipose tissue loss, Hyperinsulinemia, Fasting hypoglycemia, Severe failure to thrive, Hyperglyce... OMIM:246200
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Multiple Sulfatase Deficiency
Ataxia, Hydrocephalus, Cerebral atrophy, CNS demyelination, Abnormal periventricular white matter... OMIM:272200
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Exaggerated startle response, Microcephaly, Basal gangl... OMIM:617281
Necrotizing Enterocolitis
Shock, Small for gestational age, Bradycardia, Hypotension, Abnormal glucose homeostasis, Hypergl... ORPHA:391673
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Delayed CNS myelination, Reduced cerebral white matter volume, Lateral ventricle dilatation, Pari... OMIM:620075
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Overweight, Obesity, Hypertension, Hypercholesterolemia ORPHA:69663
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... OMIM:175700
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Inguinal hernia, Obesity, Arrhythmia ORPHA:3191
Leukodystrophy, Progressive, Early Childhood-Onset
Dystonia, Hypoplasia of the corpus callosum, Cerebral atrophy, Leukodystrophy OMIM:617762
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly OMIM:620001
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Low pulse pressure, Hyperchole... ORPHA:86816
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Obesity OMIM:610628
Krabbe Disease
CNS demyelination, Diffuse cerebral atrophy, Hydrocephalus, Peripheral demyelination OMIM:245200
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... OMIM:615219
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Delayed CNS myelination, Dystonia, Ataxia, Microcephaly, Cerebral atrophy, Choreoathetosis, Abnor... OMIM:615471
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased body weight OMIM:614450
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618619
Holoprosencephaly 5
Lateral ventricle dilatation, Hydrocephalus, Microcephaly OMIM:609637
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Small for gestational age, Increased circulating free fatty a... ORPHA:26793
Leptin Receptor Deficiency
Diabetes mellitus, Obesity OMIM:614963
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... ORPHA:66529
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Type II diabetes mellitus, Obesity ORPHA:2234
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Ventriculomegaly, Cerebral calcification, Dystonia, Microcephaly, Leukoen... OMIM:620024
Orofaciodigital Syndrome Xiv
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, CNS hypomyelinat... OMIM:615948
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Microcephaly, Basal ganglia calcification, Abnormal CNS myelination, Ventriculomegaly OMIM:610651
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Obesity, Truncal obesity, Hyperc... ORPHA:96184
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Leukodystrophy OMIM:618225
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Microcephaly, Gait ataxia, Hypoplasia of the corpus callosum, Cerebral hypomyel... ORPHA:513456
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Unsteady gait, Loss of ability to walk in early childhood, Leukodystrophy ORPHA:401866
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Ataxia, Inability to walk, Lateral ventricle dilatation, Ga... ORPHA:2822
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Multiple Sclerosis, Susceptibility To
CNS demyelination, Paresthesia OMIM:126200
Alg8-Cdg
Ataxia, Leukoencephalopathy, Hypoplasia of the corpus callosum, Leukodystrophy, Cerebral cortical... ORPHA:79325
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Sudden cardiac death, Supraventri... ORPHA:98855
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventriculomegaly, Limb ataxia, Leukodystrophy, Truncal ataxia OMIM:619051
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Aicardi-Goutieres Syndrome 1
Intracerebral periventricular calcifications, Microcephaly, Basal ganglia calcification, Inabilit... OMIM:225750
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Increased circulating free fatty acid level, Fasting hyperinsulinemia, Dil... ORPHA:71212
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... OMIM:619179
Trigeminal Neuralgia
Somatic sensory dysfunction, Paresthesia, Allodynia, CNS demyelination, Peripheral demyelination ORPHA:221091
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus ca... OMIM:617751
Fanconi-Bickel Syndrome
Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Fasting hypoglycemia, Glycos... ORPHA:2088
Cog5-Cdg
Diffuse cerebral atrophy, Cerebral white matter atrophy, Microcephaly, Delayed myelination, Later... ORPHA:263487
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Sudden cardiac death, Supraventri... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Sudden cardiac death, Supraventri... ORPHA:98853
Wiedemann-Rautenstrauch Syndrome
Ataxia, Tremor, Hydrocephalus, CNS hypomyelination, Leukodystrophy, Truncal ataxia, Polymicrogyri... ORPHA:3455
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Leukodystrophy, Dystonia, Punctate periventri... ORPHA:309256
Adams-Oliver Syndrome 2
Microcephaly, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Polymicrogyria OMIM:614219
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Impaired myocardial contractility ORPHA:681
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Delayed CNS myelination, Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis ... OMIM:617260
Symptomatic Form Of Hfe-Related Hemochromatosis
Elevated jugular venous pressure, Diabetes mellitus, Portal hypertension, Congestive heart failur... ORPHA:465508
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Perisylvian polymicrogyria, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cere... OMIM:618291
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Hypoplasia of the corpus callosum, Leukodystrophy, Polymicrogyria, Agyria, Ventriculomegaly ORPHA:370997
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Obesity, Glucose intolerance, Abdominal obesity, Hypertension OMIM:219090
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Dysplastic corpus callosum OMIM:618810
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia, Failure to thri... OMIM:610768
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebral calcification, Hydrocephalus, Hypoplasia of the corpus callosum, Leukodystrophy, Polymic... OMIM:616538
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Obesity, Hypoglycemic seizures OMIM:609734
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Microcephaly OMIM:619278
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Inability to walk, Dysmetria, Gait disturbance, Difficulty walking, CNS demyelination, Ab... ORPHA:139396
Dysbetalipoproteinemia
Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Obesity, Xanthelasma, Hypercholesterolemia ORPHA:412
Waardenburg Syndrome, Type 4A
Ataxia, Leukodystrophy OMIM:277580
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Cerebral hypomyelination, Secondary microcephaly, Hypoplasia of the corpus callosum, Primary micr... ORPHA:447997
Cerebrofacioarticular Syndrome
Ataxia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Agenesis of ... ORPHA:314679
Beta-Ketothiolase Deficiency
Hypoglycemia, Weight loss, Hypertension, Hypotension, Hyperglycemia ORPHA:134
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Focal hypointensity of cerebral white matter on MRI, Impaired pain sensation, I... ORPHA:261552
Combined Oxidative Phosphorylation Deficiency 4
Polymicrogyria, Opisthotonus, Leukodystrophy, Microcephaly OMIM:610678
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Microcephaly, Cerebral atrophy, Opisthotonus, Lateral ventricle dilatation, Primar... OMIM:619847
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly OMIM:609053
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg... OMIM:609069
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Diabetes mellitus, Hypoglycemia, Large for gestational age OMIM:616026
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Cerebral calcification, Chorea, Abnormal periventricular w... ORPHA:1855
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ... OMIM:620113
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Punctate periventricular T2 hyperintense foci, Leukodystrophy, Dystonia,... ORPHA:309263
Halperin-Birk Syndrome
Inability to walk, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618651
Leigh Syndrome
Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Ataxia, Dystonia, Ch... ORPHA:506
Gaisböck Syndrome
Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Overweight, Hypo... ORPHA:90041
Acute Disseminated Encephalomyelitis
Somatic sensory dysfunction, Hypointensity of cerebral white matter on MRI, Ataxia, Diffuse white... ORPHA:83597
Abetalipoproteinemia
CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Gabriele-De Vries Syndrome
Waddling gait, Delayed CNS myelination, Tremor, Cortical dysplasia, Lateral ventricle dilatation,... OMIM:617557
De Sanctis-Cacchione Syndrome
Ataxia, Microcephaly, Basal ganglia calcification, Scissor gait, Cerebral atrophy, Choreoathetosi... OMIM:278800
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Unsteady gait, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, C... ORPHA:457279
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... ORPHA:544488
Secondary Syringomyelia
Somatic sensory dysfunction, Sensory ataxia, Progressive cerebellar ataxia, Paresthesia, Difficul... ORPHA:99857
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Portal hypertension, Flexion contracture, Steatorrhea, Postprandial hyperglycemi... ORPHA:440713
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation, Microcephaly ORPHA:3078
Pseudo-Torch Syndrome 2
Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Polymicrogyria, Ventriculomegaly OMIM:617397
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc... OMIM:619103
Cole Disease
Hyperglycemia OMIM:615522
Metachromatic Leukodystrophy, Adult Form
Dystonia, Chorea, Progressive gait ataxia, Difficulty walking, Leukodystrophy, Intention tremor, ... ORPHA:309271
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia ORPHA:254534
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Weight loss, Lower-limb joint contract... ORPHA:99885
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Canavan Disease
CNS demyelination, Opisthotonus, Microcephaly OMIM:271900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Increased body weight, Cardiomyopathy, Fasting hypoglycemia, ... ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Ketotic hypoglycemia, Increased body weight, Recurrent hypoglycemia, Fastin... ORPHA:79240
Rere-Related Neurodevelopmental Syndrome
CNS demyelination, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:494344
Aicardi-Goutieres Syndrome 9
Delayed CNS myelination, Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffu... OMIM:619487
Ventriculomegaly With Defects Of The Radius And Kidney
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly OMIM:602200
Niemann-Pick Disease Type C
Limb dystonia, Axial dystonia, Dystonia, Ataxia, Tremor, Chorea, Cerebral atrophy, Abnormal CNS m... ORPHA:646
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Cerebral cortical atrophy OMIM:607485
Progressive Multifocal Leukoencephalopathy
Somatic sensory dysfunction, Dysmetria, Gait ataxia, Paresthesia, CNS demyelination ORPHA:217260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Dilated thi... OMIM:613154
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, CNS hypomyelination, Frontotemporal cerebral atrophy, Lateral... OMIM:619534
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:618914
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus OMIM:612863
Hyperglycinemia, Lactic Acidosis, And Seizures
Leukodystrophy, Cerebral edema, Cerebral atrophy, Microcephaly OMIM:614462
Cushing Disease
Diabetes mellitus, Impaired glucose tolerance, Dorsocervical fat pad, Myocardial infarction, Para... ORPHA:96253
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... ORPHA:293725
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Absent septum pellucidum, Abnormal basal ganglia morphology, Colpocephaly, Late... ORPHA:397715
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcephaly, Inability to walk, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of th... ORPHA:464738
Dermatoleukodystrophy
Leukodystrophy OMIM:221790
Aromatase Deficiency
Eunuchoid habitus, Insulin resistance, Hyperlipidemia, Obesity, Type II diabetes mellitus, Tall s... ORPHA:91
Waardenburg Syndrome, Type 2E
Cerebral hypomyelination OMIM:611584
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Intention tremor OMIM:619995
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Ventriculomegaly ORPHA:363444
Den Hoed-De Boer-Voisin Syndrome
Ataxia, Microcephaly, Tremor, Inability to walk, Lateral ventricle dilatation, Secondary microcep... OMIM:619229
Peroxisome Biogenesis Disorder 12A (Zellweger)
CNS demyelination, Hydrocephalus, Cerebral atrophy, Microcephaly OMIM:614886
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Leukodystrophy OMIM:614299
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:618569
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype... ORPHA:769
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Leukodystrophy ORPHA:444013
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:261250
Sotos Syndrome
Tall stature, Increased body weight, Glucose intolerance, Overgrowth, Neonatal hypoglycemia OMIM:117550
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Atypical Werner Syndrome
Diabetes mellitus, Lipoatrophy, Telangiectasia of the skin, Hypertriglyceridemia, Congestive hear... ORPHA:79474
6Q Terminal Deletion Syndrome
Dysmetria, Gait ataxia, Abnormal cerebral white matter morphology, Colpocephaly, Hypoplasia of th... ORPHA:75857
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Ataxia, Microcephaly, Inability to walk, Colpocephaly, Dystonia OMIM:620083
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Cerebral calcification, Ataxia, Tremor, Leukoencephalopathy, Leukodystrophy, Dystonia OMIM:612199
Sjogren-Larsson Syndrome
CNS demyelination OMIM:270200
Distal Deletion 10Q
Ataxia, Microcephaly, Unsteady gait, Lateral ventricle dilatation, Cavum septum pellucidum ORPHA:96148
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Shortened PR interval, Obesity, Weight loss, Impaired myocardial contracti... ORPHA:79102
Peroxisome Biogenesis Disorder 5A (Zellweger)
Macrogyria, Athetosis, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Polymicrogyria OMIM:614866
Aicardi Syndrome
Delayed CNS myelination, Microcephaly, Dilated third ventricle, Partial agenesis of the corpus ca... OMIM:304050
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Choreoacanthocytosis
Decreased number of peripheral myelinated nerve fibers, Impaired vibratory sensation, Caudate atr... ORPHA:2388
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia... OMIM:227810
Leprechaunism
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Hyperaldosteronism, Re... ORPHA:508
Aicardi-Goutières Syndrome
Ventriculomegaly, Cerebral calcification, Dystonia, Microcephaly, Tremor, Porencephalic cyst, Mul... ORPHA:51
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus OMIM:615710
Immunodeficiency 23
Abnormal CNS myelination, Ataxia, Somatic sensory dysfunction OMIM:615816
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum OMIM:309801
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cerebral white matter hypoplasia, Colpocephaly, Delayed myelination, Hypoplasia of the corpus cal... ORPHA:477993
Isolated Complex I Deficiency
Ataxia, Leukodystrophy, Leukoencephalopathy, Microcephaly ORPHA:2609
Heart Defects, Congenital, And Other Congenital Anomalies
Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Aplasia of the left hemidiap... OMIM:600001
Weaver Syndrome
Lateral ventricle dilatation, Delayed CNS myelination, Absent septum pellucidum, Ventriculomegaly OMIM:277590
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Dend Syndrome
Hyperglycemia ORPHA:79134
Mosaic Trisomy 1
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum ORPHA:1692
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Increased body weight, Abdominal obesity, Type II diabetes mellitus, Failure... ORPHA:398069
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Polym... OMIM:618820
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... ORPHA:70591
Cerebrotendinous Xanthomatosis
Resting tremor, Somatic sensory dysfunction, Ataxia, Abnormal globus pallidus morphology, Hypermy... ORPHA:909
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Ataxia, Microcephaly, Tremor, Partial agenesis of the corpus callosum, Simplified gyral... OMIM:220111
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Lateral ventricle dilatation, Dilated third ventricle, Hydrocephalus, Leukodystrophy OMIM:619575
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Abnormal CNS myelination OMIM:619053
Mitochondrial Complex I Deficiency, Nuclear Type 1
Ataxia, Microcephaly, Focal T2 hypointense basal ganglia lesion, Leukoencephalopathy, Leukodystro... OMIM:252010
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Absent septum pellucidum, Microcephaly, Delayed myelination, Abnormal cerebral white matter morph... OMIM:300868
Lenz-Majewski Hyperostotic Dwarfism
Microcephaly, Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy,... OMIM:151050
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Agenesis of corpus callosum, Colpocephaly, Microcephaly OMIM:301043
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Tremor, Dysplastic corpus callosum, Ataxia, Thick corpus callosum OMIM:300967
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus,... OMIM:210710
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:619479
Hellp Syndrome
Internal hemorrhage, Increased body weight, Hypotension, Cerebral hemorrhage ORPHA:244242
Hurler Syndrome
Abnormal CNS myelination, Hydrocephalus OMIM:607014
Khan-Khan-Katsanis Syndrome
Colpocephaly, Ventriculomegaly, Microcephaly OMIM:618460
Cushing Syndrome Due To Ectopic Acth Secretion
Diabetes mellitus, Impaired glucose tolerance, Dorsocervical fat pad, Myocardial infarction, Para... ORPHA:99889
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus ca... OMIM:619869
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Hypertrophic cardiomyopathy, Failure to thrive OMIM:124000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Isometric tremor, Ataxia, Torticollis, Microcephaly, Head titubation, Delayed m... OMIM:619475
Congenital Disorder Of Glycosylation, Type Iim
Delayed CNS myelination, Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia... OMIM:300896
Bickerstaff Brainstem Encephalitis
Ataxia, Dysesthesia, Impaired proprioception, Sensory ataxia, Acute demyelinating polyneuropathy,... ORPHA:79138
Acute Transverse Myelitis
Impaired vibratory sensation, Somatic sensory dysfunction, Dysesthesia, Dissociated sensory loss,... ORPHA:139417
Hemophagocytic Lymphohistiocytosis, Familial, 2
CNS demyelination, Ataxia OMIM:603553
Zttk Syndrome
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Hypoplasia of the corpus c... OMIM:617140
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Ataxia, Hypoplasia of the corpus callosum, Intention tremor ORPHA:466791
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Hyperglycemia, Obesity, Pulmonary arterial hypertension ORPHA:444077
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation, Opisthotonus, Microcephaly OMIM:614098
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ventriculomegaly, Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cerebral white m... ORPHA:500150
Glycogen Storage Disease Ii
Abnormal CNS myelination, Difficulty walking OMIM:232300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Leukodystrophy, Microcephaly ORPHA:79124
Smith-Lemli-Opitz Syndrome
Diffuse cerebral atrophy, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, C... OMIM:270400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia, Obesity, Hyperlipidemia ORPHA:293987
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation, Pachygyria OMIM:263520
Osteopetrosis, Autosomal Recessive 7
Lateral ventricle dilatation, Hydrocephalus OMIM:612301
Chromosome 1P36 Deletion Syndrome, Distal
Delayed CNS myelination, Microcephaly, Pachygyria, Hydrocephalus, Leukoencephalopathy, Lateral ve... OMIM:607872
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Secondary microcephaly, Delayed myelination, Abnormal corp... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Secondary microcephaly, Delayed myelination, Abnormal corp... ORPHA:353277
Witteveen-Kolk Syndrome
Delayed CNS myelination, Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia... OMIM:613406
Genitopatellar Syndrome
Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum OMIM:606170
Carney Complex
Dorsocervical fat pad, Congestive heart failure, Increased body weight, Hypertension, Abdominal o... ORPHA:1359
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Focal hypointensity of cerebral white matter on MRI, Impaired pain sensation, I... ORPHA:261537
Peroxisome Biogenesis Disorder 1B
Leukodystrophy OMIM:601539

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 Ppm1l

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 Ppm1l.

No publications found that use IMPC mice or data for Ppm1l.

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
Ppm1ltm211060(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Ppm1ltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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