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

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 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
Obesity, Hypercholesterolemia, Hypertension, Myocardial infarction, Diabetes mellitus OMIM:608320
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Leukodystrophy, Hypomyelinating, 11
CNS hypomyelination, Leukodystrophy, Hypoplasia of the corpus callosum, Tremor, Ataxia OMIM:616494
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Inability to w... OMIM:620317
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
CNS hypomyelination, Leukodystrophy, Cerebral atrophy, Difficulty walking, Hypoplasia of the corp... ORPHA:527497
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Truncal obesity, Hy... ORPHA:293964
Leukoencephalopathy, Brain Calcifications, And Cysts
Leukoencephalopathy, Leukodystrophy, Cerebral calcification, Tremor, Gait disturbance, Ataxia, Dy... OMIM:614561
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Age... OMIM:610245
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Insulin-... OMIM:608600
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Unsteady gait, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Leukoencephalopathy, Cystic, Without Megalencephaly
Leukoencephalopathy, Ventriculomegaly, Cerebral calcification, Focal white matter lesions, Microc... OMIM:612951
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications
Hypoplasia of the corpus callosum, Delayed CNS myelination, Periventricular leukomalacia, Cerebra... OMIM:618875
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Thin corpus callosum, CNS hypomyelination, Ataxia OMIM:619688
Leukodystrophy, Hypomyelinating, 15
CNS hypomyelination, Leukodystrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, Loss of... OMIM:617951
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebral cortical atrophy, CNS hypomyelination, Leukodystrophy, Postural tremor, Tremor, Dysmetri... OMIM:607694
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Diffuse white matter abnormalities, Leukodystrophy, Secondary microcephaly, Microcephaly, Dystonia OMIM:616763
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Cerebral cortical atrophy, CNS hypomyelination, Leukodystrophy, Impaired vibration sensat... ORPHA:447896
Stxbp1-Related Encephalopathy
Inability to walk, Tremor, Dysplastic corpus callosum, Cerebral white matter atrophy, Ataxia, Dys... ORPHA:599373
Alg2-Cdg
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Cerebral hypomyeli... ORPHA:79326
Spastic Paraplegia 44, Autosomal Recessive
CNS hypomyelination, Dysmetria, Distal sensory impairment, Hypoplasia of the corpus callosum, Ata... OMIM:613206
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Hypertriglyceridemia, Sudden cardiac death, Hyper... OMIM:610947
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Cerebral atrophy, Inability to walk, Hypoplasia of the corpus callosum, Microcephaly, Progressive... OMIM:616657
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
CNS hypomyelination, Leukodystrophy, Limb ataxia, Limb dystonia, Head titubation, Torticollis, Tr... OMIM:617560
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Difficulty walking, Agenesis of corpus callosum, Limb tremor, Spastic ... ORPHA:401820
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, ... OMIM:604213
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
CNS hypomyelination, Leukodystrophy, Gait ataxia, Intention tremor, Dysmetria, Tremor, Hypoplasia... OMIM:614381
Pelizaeus-Merzbacher Disease
Ataxia, Broad-based gait, CNS hypomyelination, Generalized dystonia, Sudanophilic leukodystrophy,... OMIM:312080
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Dystonia, Hypointensity of cerebral white matter on MRI, Leukodystrophy, Ataxia OMIM:619196
4H Leukodystrophy
Striatal T2 hyperintensity, Dysmetria, Tremor, Hypoplasia of the corpus callosum, Progressive gai... ORPHA:289494
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl... OMIM:600638
Microcephaly 19, Primary, Autosomal Recessive
Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly, Delayed CNS myelination, Simpl... OMIM:617800
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Congestive heart failure, Obesity, Type II diabetes mellitus, Hypercholestero... OMIM:615703
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
CNS hypomyelination, Inability to walk, Microcephaly, Thin corpus callosum, Choreoathetosis OMIM:620023
Hereditary Methemoglobinemia
Temporal cortical atrophy, Small basal ganglia, Limb dystonia, Microcephaly, Cerebral hypomyelina... ORPHA:621
Developmental And Epileptic Encephalopathy 5
Cerebral cortical atrophy, Reduced cerebral white matter volume, CNS hypomyelination, Cerebral at... OMIM:613477
Null Syndrome
CNS hypomyelination, Difficulty walking, Inability to walk, Peripheral demyelination, Demyelinati... ORPHA:280234
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Microcephaly, Delayed CNS myelination, Demyelinating peripheral neuropathy, Impaired dist... OMIM:619742
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Difficulty walking, Dysmetria, Hypoplasia of the corpus callosum, Diffuse cerebral atrophy, Micro... ORPHA:438114
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia OMIM:256450
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Ventriculomegaly, CNS hypomyelination, Cerebral atrophy, Hypoplasia of the corpus callosum, Micro... OMIM:615760
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Leukoencephalopathy, CNS hypomyelination, Hypoplasia of the corpus callosum, Ataxia OMIM:615281
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Developmental And Epileptic Encephalopathy 79
Cerebral cortical atrophy, Frontotemporal cerebral atrophy, CNS hypomyelination, Secondary microc... OMIM:618559
Kaya-Barakat-Masson Syndrome
CNS hypomyelination, Cerebral atrophy, Limb dystonia, Hypoplasia of the corpus callosum, Microcep... OMIM:619125
Developmental And Epileptic Encephalopathy 78
Inability to walk, Microcephaly, Chorea, CNS hypomyelination OMIM:618557
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly, Primary microcephaly, Lissencephaly, Simplified gyral ... OMIM:614019
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral cortical atrophy, CNS hypomyelination, Microcephaly, Cerebral hypomyelination, Cerebral ... ORPHA:369939
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, CNS hypomyelination, Leukodystrophy, Loss of ambulation, Cerebral white matte... OMIM:610532
Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Tremor, Microcephaly, Cerebral hypomyelination, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination, Ataxia ORPHA:88637
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Abdominal obesity, Hypercholesterolemia, Truncal obesit... OMIM:615812
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dysplastic corpus callosum, Microcephaly, Ataxia, Dystonia OMIM:618276
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Cerebral atrophy, Cerebral hypomyelination, Head titubation, Ataxia, Demyelinatin... OMIM:608804
Charcot-Marie-Tooth Disease, Type 4A
Basal lamina onion bulb formation, CNS hypomyelination, Distal sensory impairment, Decreased numb... OMIM:214400
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Hypoplasia of the corpus callosum, Gait disturbance, Leukodystrophy OMIM:616859
Folinic Acid-Responsive Seizures
Broad-based gait, Frontotemporal cerebral atrophy, Difficulty walking, Chorea, Cerebral hypomyeli... ORPHA:79097
Developmental And Epileptic Encephalopathy 86
Microcephaly, Dystonia, CNS hypomyelination OMIM:618910
Pelizaeus-Merzbacher Disease, Classic Form
Difficulty walking, Head tremor, Dystonic gait, Cerebral hypomyelination, Confluent hyperintensit... ORPHA:280219
Glutamine Deficiency, Congenital
CNS hypomyelination, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Neonatal de... OMIM:610015
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
CNS hypomyelination, Inability to walk, Hypoplasia of the corpus callosum, Microcephaly, Delayed ... OMIM:616577
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Developmental And Epileptic Encephalopathy 76
Cerebral atrophy, Inability to walk, Periventricular white matter hyperintensities, Hypoplasia of... OMIM:618468
Transient Neonatal Diabetes Mellitus
Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Retinal Dystrophy With Leukodystrophy
Truncal titubation, Falls, CNS hypomyelination, Dysmetria, Progressive microcephaly, Waddling gait OMIM:618863
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Polymicrogyria, Type II lissencephaly, Partial agenesis of the corp... ORPHA:300570
Multiple Mitochondrial Dysfunctions Syndrome 4
Abnormal periventricular white matter morphology, Leukodystrophy OMIM:616370
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral hypomyelination, Microcephaly, Dystonia, Cerebral atrophy OMIM:300475
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Broad-based gait, Focal cortical dysplasia, Inability to walk, Microcephaly, Delayed CNS myelinat... OMIM:619884
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum OMIM:613162
Developmental And Epileptic Encephalopathy 93
CNS hypomyelination, Cerebral atrophy, Inability to walk, Hypoplasia of the corpus callosum, Micr... OMIM:618012
Developmental And Epileptic Encephalopathy 4
Cerebral atrophy, Hypoplasia of the corpus callosum, Tremor, Cerebral hypomyelination, Delayed CN... OMIM:612164
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Juvenile Amyotrophic Lateral Sclerosis
Arm dystonia, CNS hypomyelination, Tip-toe gait, Amyotrophic lateral sclerosis, Difficulty walkin... ORPHA:300605
Leukodystrophy, Childhood-Onset, Remitting
Gait disturbance, Abnormal cerebral white matter morphology, Leukodystrophy OMIM:619864
Lissencephaly 8
Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Hypoplasia of the corpus callosum, Micro... OMIM:617255
Leukoencephalopathy With Vanishing White Matter 1
Leukoencephalopathy, Cessation of head growth, Cerebral hypomyelination, Gait disturbance, CNS de... OMIM:603896
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Generalized dystonia, Inability to walk, Partial agenesis of the corpus callosum, Opisthotonus, D... OMIM:619653
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Lateral ventricle dilatation, Hand tremor, Periventricular leukomalacia, Ata... OMIM:615889
Leukodystrophy, Hypomyelinating, 10
Cerebral cortical atrophy, Reduced cerebral white matter volume, CNS hypomyelination, Leukodystro... OMIM:616420
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Dystonic gait, Cerebral hypomyelination, Confluent hyperin... ORPHA:280210
Neurodegeneration With Brain Iron Accumulation 7
Leukodystrophy, Cerebral atrophy, Tremor, Dysmetria, Hypoplasia of the corpus callosum, Loss of a... OMIM:617916
Autosomal Recessive Spastic Paraplegia Type 66
Difficulty walking, Impaired vibration sensation in the lower limbs, Hypoplasia of the corpus cal... ORPHA:401815
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
CNS hypomyelination, Difficulty walking, Inability to walk, Hypoplasia of the corpus callosum, Ag... ORPHA:481152
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia, Hypoplasia of the corpus call... ORPHA:488635
Congenital Disorder Of Glycosylation, Type Iiy
Cerebral cortical atrophy, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Delayed C... OMIM:620200
Developmental And Epileptic Encephalopathy 29
Blepharospasm, CNS hypomyelination, Cerebral atrophy, Chorea, Limb dystonia, Microcephaly OMIM:616339
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
CNS hypomyelination, Cerebral atrophy, Microcephaly, Dystonia, Thin corpus callosum, Simplified g... OMIM:619286
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Focal polymicrogyria, Dysgenesis of the basal ganglia, Dilated fourth ventricle, Primary microcep... OMIM:615771
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity ORPHA:140941
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Pelizaeus-Merzbacher Disease In Female Carriers
Abnormal corpus callosum morphology, CNS hypomyelination, Inability to walk, Difficulty walking, ... ORPHA:280229
Developmental And Epileptic Encephalopathy 17
Cerebral atrophy, Inability to walk, Chorea, Hypoplasia of the corpus callosum, Delayed CNS myeli... OMIM:615473
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L... ORPHA:45452
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Neuronal loss in basal ganglia, Lateral ventricle dilatation, Hand tre... OMIM:607596
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Obesity, Glucose intolerance, Hy... ORPHA:369873
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ventriculomegaly, CNS hypomyelination, Inability to walk, Gait ataxia, Opisthotonus, Microcephaly... OMIM:619580
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... OMIM:616329
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, CNS hypomyelination, Somatic sensory dysfunction, Ataxia ORPHA:320401
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Paresthesia, Cerebral calcification, H... ORPHA:73256
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Giant Axonal Neuropathy
CNS hypomyelination, Falls, Difficulty walking, Distal sensory impairment, Unsteady gait ORPHA:643
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Pachygyria, Thin corpus callosum, Abnormality of the anterior commissure ORPHA:572013
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Cerebral cortical atrophy, Lateral ventricle dilatation, Periventricular cysts, Microcephaly, Del... OMIM:617668
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Loss of ambulation, Abnormal cerebral whit... OMIM:620315
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Hyperglycemia, Increased body weight, Abdominal obesity, Hy... OMIM:615954
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly, CNS hypomyelination OMIM:619423
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Shuffling gait, Leukodystrophy, Gait ataxia, Intention tremor, Dysmetria, Hypop... OMIM:617964
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Leukoencephalopathy, CNS hypomyelination, Cerebral atrophy, Hypoplasia of the corpus callosum, De... OMIM:619260
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Dystonia, Delayed CNS myelination, Hydrocephalus, Partial agenesis o... OMIM:619302
Multiple Mitochondrial Dysfunctions Syndrome 5
Ventriculomegaly, Leukodystrophy, Microcephaly, Pachygyria, Delayed myelination OMIM:617613
Adenylosuccinase Deficiency
CNS hypomyelination, Cerebral atrophy, Inability to walk, Gait ataxia, Opisthotonus, Cerebral hyp... OMIM:103050
Huppke-Brendel Syndrome
Inability to walk, CNS hypomyelination, Cerebral atrophy OMIM:614482
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hypertension, Lipodystrophy, Hypertrigly... OMIM:613877
Tremor, Hereditary Essential, 6
Leukodystrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebral cortical atrophy, CNS hypomyelination, Leukodystrophy, Inability to walk, Dysmetria, Mic... OMIM:619576
Developmental And Epileptic Encephalopathy 75
Cerebral cortical atrophy, CNS hypomyelination, Secondary microcephaly, Hypoplasia of the corpus ... OMIM:618437
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Dysgenesis of the basal gangli... ORPHA:300573
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Inability to walk, Delayed CNS myelination, Periventricular leukomalacia, Agenesis of corpus call... OMIM:618324
Combined Oxidative Phosphorylation Deficiency 24
Microcephaly, CNS hypomyelination, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:616239
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hypertension, Loss of gluteal subcutaneous... ORPHA:280356
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Type I diabetes mellitus, Hypertrophic cardiomyopathy, Large for gestational age, Hyperinsulinemi... ORPHA:276580
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Lis... OMIM:618325
Neuropathy, Congenital Hypomyelinating, 3
CNS hypomyelination, Hypoplasia of the corpus callosum, Neonatal death, Microcephaly, Dystonia OMIM:618186
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age OMIM:606176
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Pontocerebellar Hypoplasia, Type 14
Agenesis of corpus callosum, Delayed CNS myelination, Hydrocephalus, Dystonia, Simplified gyral p... OMIM:619301
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Difficulty walking, Hypoplasia of the corpus callosum, Tremor, Microcephaly, Ab... ORPHA:477673
Neurodevelopmental Disorder With Language Delay And Seizures
Diffuse cerebral atrophy, Thin corpus callosum, CNS hypomyelination OMIM:619908
Intellectual Developmental Disorder, X-Linked 104
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Tremor, Delayed CNS myelination, At... OMIM:300983
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Inability to walk, Broad-based gait, Delayed CNS myelination, CNS hypomyelination OMIM:616158
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Pyruvate Carboxylase Deficiency
Ventriculomegaly, CNS hypomyelination, Tip-toe gait, Subependymal cysts, Increased caudate lactat... ORPHA:3008
Gastrointestinal Defects And Immunodeficiency Syndrome 2
CNS hypomyelination, Leukodystrophy, Polymicrogyria, Dysmetria, Hyperintensity of cerebral white ... OMIM:619708
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... OMIM:600348
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Leukodystrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcepha... OMIM:616034
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Increased body weight, Hyperin... ORPHA:276608
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Gaba-Transaminase Deficiency
Leukodystrophy, Agenesis of corpus callosum OMIM:613163
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination ORPHA:85163
Peroxisome Biogenesis Disorder 11A (Zellweger)
CNS hypomyelination, Lissencephaly, Polymicrogyria OMIM:614883
Combined Oxidative Phosphorylation Deficiency 11
Cerebral cortical atrophy, CNS hypomyelination, Hypoplasia of the corpus callosum, Neonatal death... OMIM:614922
Microcephaly-Capillary Malformation Syndrome
CNS hypomyelination, Cerebral atrophy, Hypoplasia of the corpus callosum, Progressive microcephal... OMIM:614261
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
CNS hypomyelination, Cerebral atrophy, Difficulty walking, Inability to walk, Chorea, Tremor, Mic... OMIM:615356
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:151660
Leukodystrophy, Hypomyelinating, 12
Ventriculomegaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Microcephaly, Cerebr... OMIM:616683
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus, Hypertriglyceridemia, Hypertension, Myocardial infarction OMIM:618620
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hyperlipidemia, Hypertension, Lipodystrophy, Abdominal obesity, Diabetes mell... OMIM:615980
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Difficulty walking, Tremor, Cerebral cortical hemiatrophy, Dystonia ORPHA:306669
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Obesity, Large for gestational ag... ORPHA:552
Leukodystrophy, Hypomyelinating, 22
Inability to walk, CNS hypomyelination OMIM:619328
Immunodeficiency 26 With Or Without Neurologic Abnormalities
CNS hypomyelination, Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Simplified gyra... OMIM:615966
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Falls, Cerebral atrophy, Action tremor, Hypoplasia of the corpus callosum, Impaired tandem gait, ... OMIM:300423
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity, Hyperinsulinemia OMIM:618406
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Ventriculomegaly, CNS hypomyelination, Secondary microcephaly, Inability to walk, Hypoplasia of t... OMIM:617193
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Leukoencephalopathy, Shuffling gait, Somatic sensory dysfunction, Gait disturbance, Corpus callos... OMIM:221820
Lissencephaly Due To Tuba1A Mutation
Ventriculomegaly, Dysgenesis of the basal ganglia, Polymicrogyria, Dilated fourth ventricle, Hypo... ORPHA:171680
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Falls, Leukodystrophy, Hyperintensity of cerebral white matter on MRI, Microcephaly, Ataxia, Dyst... OMIM:619224
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Neonatal death OMIM:614870
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Leukoencephalopathy, Cerebral cortical atrophy, Basal ganglia calcification, Hypoplasia of the co... OMIM:618193
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
CNS hypomyelination, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephal... OMIM:618367
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Increased ... OMIM:615830
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Lateral ventricle dilatation, Cerebral atrophy, Abnormal upper motor neuron ... OMIM:221770
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Cerebral hypoplasia, Abnormal cortical gyration, Ventriculomegaly, Hypoplasia of the corpus callo... ORPHA:79351
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Type I diabetes mellitus, Hypertrophic cardiomyopathy, Large for gestational age, Hypoketotic hyp... ORPHA:276575
Unilateral Hemispheric Polymicrogyria
Cortical dysplasia, Cerebral hypoplasia, Thick cerebral cortex, Lateral ventricle dilatation ORPHA:101071
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Flexion contracture OMIM:618856
Neurodevelopmental Disorder With Involuntary Movements
Ventriculomegaly, Cerebral atrophy, Chorea, Hypoplasia of the corpus callosum, Microcephaly, Dela... OMIM:617493
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hypertension, Diabetes mellitus, Lipoatrophy ORPHA:79084
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Difficulty walking, Abnormal periventricular white matter morphology, Dysmetria, Hypoplasia of th... OMIM:612319
Mitochondrial Complex I Deficiency, Nuclear Type 21
Leukoencephalopathy, Difficulty walking, Leukodystrophy, Ataxia OMIM:618242
S-Adenosylhomocysteine Hydrolase Deficiency
Ventriculomegaly, CNS hypomyelination, Hypoplasia of the corpus callosum, Microcephaly, Hyperinte... ORPHA:88618
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Obesity, Hyperinsulinemia, Childhood-onset truncal obesity, Hypoglycemic seizu... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Obesity, Hyperinsulinemia, Childhood-onset truncal obesity, Hypoglycemic seizu... ORPHA:71526
Hyperinsulinism Due To Ucp2 Deficiency
Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Large for gestational age, Hypoketotic hypog... ORPHA:276556
Mucolipidosis Iv
Dysplastic corpus callosum, Microcephaly, Dystonia, Cerebral dysmyelination OMIM:252650
Myoclonus, Intractable, Neonatal
Chorea, Hypoplasia of the corpus callosum, Microcephaly, Delayed CNS myelination, Athetosis, Prog... OMIM:617235
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Obesity And Hypopigmentation
Overgrowth, Obesity, Hyperinsulinemia OMIM:620195
Developmental And Epileptic Encephalopathy 44
Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Delayed CNS myelinat... OMIM:617132
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic... ORPHA:79243
Developmental And Epileptic Encephalopathy 74
Reduced cerebral white matter volume, Delayed CNS myelination, Choreoathetosis OMIM:618396
Orofaciodigital Syndrome Xvii
Ventriculomegaly, CNS hypomyelination OMIM:617926
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
CNS hypomyelination OMIM:620425
Combined Saposin Deficiency
Abnormal periventricular white matter morphology, CNS demyelination, Hypoplasia of the corpus cal... OMIM:611721
Sandhoff Disease, Infantile Form
Cerebral cortical atrophy, CNS hypomyelination, Exaggerated startle response ORPHA:309155
Leukodystrophy, Hypomyelinating, 9
Leukodystrophy, Cerebral atrophy, Dysmetria, Hypoplasia of the corpus callosum, Microcephaly, Ata... OMIM:616140
Ddost-Cdg
CNS hypomyelination, Tremor ORPHA:300536
Congenital Hydrocephalus
Small cerebral cortex, Abnormal cortical gyration, Ventriculomegaly, Colpocephaly, Hydrocephalus,... ORPHA:2185
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Peripheral demyelination, Abnormal periventricular white matter morphology, Gait ataxia, Loss of ... OMIM:249900
Leukodystrophy, Hypomyelinating, 25
Microcephaly, Dystonia, Delayed CNS myelination, Gait ataxia OMIM:620243
Peroxisome Biogenesis Disorder 8B
Tip-toe gait, Leukodystrophy, Peripheral demyelination, Gait ataxia, Dysmetria, Loss of ambulatio... OMIM:614877
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy OMIM:520000
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Tremor, CNS hypomyelination, Dysmetria, Ataxia OMIM:618527
Leukodystrophy, Hypomyelinating, 17
Cerebral atrophy, Leukodystrophy, Inability to walk, Hypoplasia of the corpus callosum, Microcephaly OMIM:618006
Weiss-Kruszka Syndrome
Dysplastic corpus callosum ORPHA:502430
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Abnormal CNS myelination, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:521390
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Microcephaly, Progressive microcephaly, CNS hypomyelination, Simplified gyral pattern OMIM:618622
Aicardi-Goutieres Syndrome 6
Leukodystrophy, Cerebral calcification, Tremor, Loss of ambulation, Microcephaly, Dystonia OMIM:615010
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618857
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Resting tremor, Chorea, Abnormal periventricular white matter morphology... OMIM:619725
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Diffuse cerebral atrophy, Microcephaly, Diffuse demyelination of th... ORPHA:77299
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Lateral ventricle dilatation, Secondary microcephaly, Inability to walk, Delaye... OMIM:617854
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia ORPHA:2089
Bardet-Biedl Syndrome 2
Obesity, Dilated cardiomyopathy, Diabetes mellitus OMIM:615981
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Microcephaly, Delayed CNS myelination, Partial agenesis of the corp... OMIM:619517
Peroxisome Biogenesis Disorder 6B
Impaired vibratory sensation, Leukodystrophy, Limb ataxia, Gait ataxia, Distal sensory impairment... OMIM:614871
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Leukodystrophy, Dysmetria, Head titubation, Delayed CNS myelination, Ataxia, Intention tremor OMIM:618688
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Secondary microcephaly, Periventricular white matter hyperintensiti... OMIM:619737
Marbach-Rustad Progeroid Syndrome
Microcephaly, CNS hypomyelination, Intention tremor, Hyperintensity of cerebral white matter on MRI OMIM:619322
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Primary microcephaly, Lateral ventricle dilatation, Cerebral atrophy OMIM:618266
Developmental And Epileptic Encephalopathy 72
Cerebral atrophy, Inability to walk, Periventricular white matter hyperintensities, Hypoplasia of... OMIM:618374
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Dilated fourth ventricle, Abno... OMIM:613443
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Ventriculomegaly, Hypoplasia of the corpus callosum, Paroxysmal dysto... ORPHA:2524
Frontal Encephalocele
Cerebral calcification, Hydrocephalus, Leukodystrophy, Aplasia/Hypoplasia of the corpus callosum ORPHA:1931
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Hypoplasia of the corpus callosum, Impaired tactile sensation, Microcephaly, Delayed CNS myelinat... OMIM:619091
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Resting tremor, Diffuse cerebral atrophy, ... ORPHA:363654
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Microcephaly 10, Primary, Autosomal Recessive
Reduced cerebral white matter volume, Cerebral atrophy, Agenesis of corpus callosum, Delayed CNS ... OMIM:615095
Sandhoff Disease
Impaired temperature sensation, CNS hypomyelination, Exaggerated startle response, Ataxia OMIM:268800
Pyruvate Carboxylase Deficiency
Athetosis, Periventricular leukomalacia, Neuronal loss in the cerebral cortex, Leukodystrophy OMIM:266150
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Chorea, Microcephaly, Delayed CNS myelination, Athetosis, Choreoathetosis OMIM:309541
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia OMIM:145750
Leukodystrophy, Hypomyelinating, 24
Ventriculomegaly, Cerebral atrophy, Leukodystrophy, Microcephaly, Thin corpus callosum OMIM:619851
Allan-Herndon-Dudley Syndrome
Leukodystrophy, Inability to walk, Microcephaly, Delayed CNS myelination, Ataxia, Athetosis OMIM:300523
Hengel-Maroofian-Schols Syndrome
Cerebral atrophy, Inability to walk, Gait imbalance, Microcephaly, Abnormal CNS myelination, Dyst... OMIM:619641
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Cerebral atrophy, Leukodystrophy, Cerebral calcification, Progressive microceph... OMIM:610333
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Cerebral cortical atrophy, Inability to walk, Limb dystonia, Hypoplasia of the corpus callosum, M... ORPHA:457351
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Microcephaly, Delaye... OMIM:615599
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
CNS hypomyelination, Cerebral atrophy, Hippocampal atrophy, Hypoplasia of the corpus callosum, Mi... OMIM:618922
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebral cortical atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Cerebral hy... ORPHA:496641
Leukodystrophy, Hypomyelinating, 13
Ataxia, Leukodystrophy, Secondary microcephaly, Abnormal periventricular white matter morphology,... OMIM:616881
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Difficulty walking, Ga... ORPHA:488627
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Reduced cerebral white matter volume, Ventriculomegaly, Difficulty walking, Gai... OMIM:617807
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Abnormal cerebral white matter morphology, Ventriculomegaly, CNS hypomyelination, Hypoplasia of t... OMIM:614501
Houge-Janssens Syndrome 2
Ventriculomegaly, Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Agenesis of ... OMIM:616362
Martsolf Syndrome 2
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:619420
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Abnormal basal ganglia MRI signal intensity, Ventriculomegaly, Leukodystrophy, Hypoplasia of the ... ORPHA:431361
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Obesity, Reactive hypoglycemia, Hypoinsulinemia OMIM:600955
Schilder Disease
Hyperintensity of cerebral white matter on MRI, CNS demyelination, Ataxia ORPHA:59298
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Leukodystrophy, Cerebral atrophy, Limb dystonia, Hypoplasia of the corpus callosum, Delayed CNS m... OMIM:620269
Autosomal Recessive Cutis Laxa Type 2A
Secondary microcephaly, Inability to walk, Dilated fourth ventricle, Dysplastic corpus callosum, ... ORPHA:357058
Mitochondrial Complex I Deficiency, Nuclear Type 5
Leukoencephalopathy, Leukodystrophy, Focal T2 hyperintense basal ganglia lesion, Microcephaly, Pr... OMIM:618226
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Secondary microcephaly, Cerebral hypomyelination, Primary microcephaly OMIM:612949
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Cerebral atrophy, Polymicrogyria, Inability to walk, Gait ataxia, Tremor, Hypoplas... OMIM:618877
Aicardi-Goutieres Syndrome 5
Leukoencephalopathy, Leukodystrophy, Intracerebral periventricular calcifications, Basal ganglia ... OMIM:612952
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hyperglycemia, Ischemic stroke, Cerebral ischemia, ST segmen... ORPHA:90065
Cach Syndrome
Lateral ventricle dilatation, Cerebral atrophy, Limb ataxia, Dysgyria, Dysmetria, Microcephaly, T... ORPHA:135
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Secondary microcephaly, Dilated fourth ventricle, CNS hypomyelination, Hypoplasia of the corpus c... OMIM:619306
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Colpocephaly, Delayed CNS myelination, Polymicrogyria OMIM:618731
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia... ORPHA:284417
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypopla... OMIM:620156
Adult Krabbe Disease
Abnormal corpus callosum morphology, Broad-based gait, Acroparesthesia, Somatic sensory dysfuncti... ORPHA:206448
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Lipodystrophy, Hypertension, Hypertriglyceridemia OMIM:615238
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Periventricular leukomalacia, Microcephaly, Colpocephaly, Delayed CNS myelinati... OMIM:619833
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Ventriculomegaly, Cerebral atrophy, Small basal ganglia, Abnormal periventricular white matter mo... OMIM:616900
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia OMIM:604484
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Developmental And Epileptic Encephalopathy 71
CNS demyelination, Simplified gyral pattern OMIM:618328
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventriculomegaly, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephal... OMIM:616975
Temple Syndrome
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal obesity, Hypertrigly... OMIM:616222
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Ventriculomegaly, Lateral ventricle dilatation, Cerebral atrophy, Difficulty... ORPHA:572798
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Type II diabetes mellitus, Small for gestational age, Diabetes mellitus OMIM:274300
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Combined Oxidative Phosphorylation Defect Type 39
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Cerebral atrophy, Tip-toe gait... ORPHA:565624
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation, Distal sensory impairment, Decreased number of peripheral myelinate... OMIM:256850
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Obesity, Mitral regurgitation, Pulmonary arterial hypertension, Overweight OMIM:614651
Leukodystrophy, Hypomyelinating, 4
Secondary microcephaly, Head titubation, Choreoathetosis, Leukodystrophy OMIM:612233
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:618890
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Inability to walk, Microcephaly, Thin corpus callosum, Lateral ventricle dilatation OMIM:615716
Insulinoma
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsulinemia, Palpitations, Reactive hypogl... ORPHA:97279
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ataxia, Thin corpus callosum, Fro... OMIM:608629
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Type II diabetes mellitus, Renovascular hypertensio... ORPHA:401923
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, CNS demyelination, Neonatal death OMIM:618237
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, Peripheral demyelination, CNS demyelination OMIM:250850
Blue Diaper Syndrome
Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia ORPHA:94086
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Palpitations, Increased body weight, Hy... ORPHA:1501
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Tip-toe gait, Lateral ventricle dilatation, Cerebral atrophy, Delayed CN... OMIM:617296
Tako-Tsubo Cardiomyopathy
Mitral regurgitation, Arrhythmia, Ventricular fibrillation, ST segment elevation, Obesity, Palpit... ORPHA:66529
Combined Oxidative Phosphorylation Deficiency 13
Dystonia, Choreoathetosis, Leukodystrophy OMIM:614932
Morgagni-Stewart-Morel Syndrome
Hypertension, Obesity, Hypercholesterolemia, Diabetes mellitus ORPHA:77296
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Increased circulating cortisol level, Recurrent hypoglycemia, Large for gestational age, Hyperins... ORPHA:79644
Fucosidosis
Spastic gait, Dystonia, CNS hypomyelination, Cerebral atrophy OMIM:230000
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Oculogyric crisis, Lateral ventricle dilatation, Hypoplasia o... ORPHA:208447
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, Increased body... ORPHA:263455
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Microcephaly, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:618736
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Delayed CNS myelination, Lateral ventricle dilatation, Multifocal cerebral wh... OMIM:600721
Dpagt1-Cdg
Cerebral cortical atrophy, CNS hypomyelination, Inability to walk, Akinesia, Hypoplasia of the co... ORPHA:86309
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Delayed CNS myelin... OMIM:614105
Chromosome 8Q21.11 Deletion Syndrome
CNS hypomyelination, Hypoplasia of the corpus callosum OMIM:614230
Leigh Syndrome, Nuclear
Dystonia, Focal substantia nigra T2 hyperintensity, CNS demyelination, Ataxia OMIM:256000
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, ... OMIM:618606
Glutaric Acidemia I
Lateral ventricle dilatation, Symmetrical progressive peripheral demyelination, Opisthotonus, Hyd... OMIM:231670
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Lissencephaly OMIM:614833
Snijders Blok-Fisher Syndrome
Opisthotonus, Delayed CNS myelination, Choreoathetosis, Hypoplasia of the corpus callosum OMIM:618604
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Multiple Mitochondrial Dysfunctions Syndrome 3
Ventriculomegaly, Cerebral atrophy, Leukodystrophy, Polymicrogyria, Hypoplasia of the corpus call... OMIM:615330
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, CNS demyelination, Leukodystrophy OMIM:264470
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Leukoencephalopathy, Diffuse white matter abnormalities, Dysmetria, Diffuse demyelination of the ... OMIM:600142
L-2-Hydroxyglutaric Aciduria
Leukoencephalopathy, Corpus callosum atrophy, Abnormal pyramidal tract morphology, Ataxia, Severe... OMIM:236792
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Reduced cerebral white matter volume, Secondary microcephaly, Agenesis of corpu... OMIM:620352
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Secondary microcephaly, Abnormal caudate nucleus morphology, Hypopl... ORPHA:2148
Cerebrooculofacioskeletal Syndrome 1
Ventriculomegaly, Basal ganglia calcification, Agenesis of corpus callosum, Diffuse cerebral atro... OMIM:214150
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Corpus callosum atrophy, Ataxia, Diffuse leukoencephalopathy, Symmetric periphera... OMIM:169500
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Obesity, Hyperinsulinemia, Orthostatic hypotension due to au... ORPHA:66628
Hyperphosphatasia-Intellectual Disability Syndrome
Cerebral hypomyelination, Gait disturbance, Ataxia ORPHA:247262
Leukodystrophy, Hypomyelinating, 3
Leukodystrophy, Sudanophilic leukodystrophy, Diffuse cerebral sclerosis, Microcephaly, Corpus cal... OMIM:260600
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Abnormal CNS myelination, Ventriculomegaly OMIM:611555
Marchiafava-Bignami Disease
Abnormal corpus callosum morphology, Abnormal basal ganglia morphology, Gait ataxia, Gait disturb... ORPHA:221074
Late-Infantile/Juvenile Krabbe Disease
Acroparesthesia, Difficulty walking, Tremor, Impaired tactile sensation, Loss of ambulation, Gait... ORPHA:206443
Craniosynostosis 6
Microcephaly, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:616602
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cerebral cortical atrophy, Broad-based gait, Ventriculomegaly, CNS hypomyelination, Hypoplasia of... ORPHA:268261
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased circulating cortisol level, Hyperaldosteronism, Glucose intolerance, Hyperlipidemia, Do... ORPHA:189427
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Delayed myelination, Lateral ventricle dilatation ORPHA:85290
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Obesity, Hyperinsulinemia, Orthostatic hypotension due to au... ORPHA:179494
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Episodic ataxia ORPHA:420179
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calc... OMIM:620371
Slc35A2-Cdg
Lateral ventricle dilatation, Cerebral atrophy, Inability to walk, Hypoplasia of the corpus callo... ORPHA:356961
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:248370
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Multiple Sulfatase Deficiency
Ventriculomegaly, Cerebral atrophy, Peripheral demyelination, Abnormal periventricular white matt... OMIM:272200
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Age... OMIM:619244
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum... OMIM:617281
Donohue Syndrome
Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Adipose tissue loss, Severe failure ... OMIM:246200
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Reduced cerebral white matter volume, Lateral ventricle dilatation, Parietal cortical atrophy, De... OMIM:620075
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Communi... OMIM:615219
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dysplastic c... OMIM:614924
Low Phospholipid-Associated Cholelithiasis
Obesity, Hypercholesterolemia, Overweight, Hypertension, Diabetes mellitus ORPHA:69663
Subaortic Stenosis-Short Stature Syndrome
Obesity, Type II diabetes mellitus, Inguinal hernia, Arrhythmia ORPHA:3191
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Simplified gyral pattern OMIM:620001
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Diabetes mellitus OMIM:610628
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Microcephaly OMIM:618010
Leukodystrophy, Progressive, Early Childhood-Onset
Cerebral atrophy, Dystonia, Hypoplasia of the corpus callosum, Leukodystrophy OMIM:617762
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Omphalocele, Increased body mass index OMIM:614450
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Ventriculomegaly, Leukodystrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcepha... OMIM:615471
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618619
Congenital Analbuminemia
Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Small for gestational age, Low puls... ORPHA:86816
Holoprosencephaly 5
Hydrocephalus, Microcephaly, Lateral ventricle dilatation OMIM:609637
Childhood-Onset Spasticity With Hyperglycinemia
Loss of ability to walk in early childhood, Unsteady gait, Leukodystrophy, Ataxia ORPHA:401866
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Type II diabetes mellitus, Obesity, Eunuchoid habitus ORPHA:2234
Leptin Receptor Deficiency
Obesity, Diabetes mellitus OMIM:614963
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Atrioventricular block, Dilated cardiomyopathy, Obes... ORPHA:26793
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Leukoencephalopathy, Cerebral cortical atrophy, Ventriculomegaly, Cerebral calcification, Periven... OMIM:620024
Xeroderma Pigmentosum, Complementation Group B
Ventriculomegaly, Basal ganglia calcification, Microcephaly, Ataxia, Abnormal CNS myelination OMIM:610651
Orofaciodigital Syndrome Xiv
CNS hypomyelination, Polymicrogyria, Hypoplasia of the corpus callosum, Microcephaly, Partial age... OMIM:615948
Aicardi-Goutieres Syndrome 1
Leukoencephalopathy, Cerebral atrophy, Intracerebral periventricular calcifications, Basal gangli... OMIM:225750
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Camptodactyly of... OMIM:175700
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal obesity, Small for g... ORPHA:96184
Trigeminal Neuralgia
Somatic sensory dysfunction, Peripheral demyelination, Paresthesia, CNS demyelination, Allodynia ORPHA:221091
Krabbe Disease
Diffuse cerebral atrophy, Peripheral demyelination, CNS demyelination, Hydrocephalus OMIM:245200
Mitochondrial Complex I Deficiency, Nuclear Type 4
Leukodystrophy, Ataxia OMIM:618225
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Truncal ataxia, Ventriculomegaly, Limb ataxia, Leukodystrophy OMIM:619051
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Lateral ventricle dilatation, Abnormal substantia nigra morphology, In... ORPHA:2822
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Ventriculomegaly, Gait ataxia, Hypoplasia of the corpus callosum, Microcephaly,... ORPHA:513456
Alg8-Cdg
Leukoencephalopathy, Cerebral cortical atrophy, Ventriculomegaly, Leukodystrophy, Hypoplasia of t... ORPHA:79325
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Elbow flexion contracture, Ventricular escape rhy... ORPHA:98855
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Necrotizing Enterocolitis
Hypotension, Shock, Hyperglycemia, Abnormal glucose homeostasis, Bradycardia, Small for gestation... ORPHA:391673
Intellectual Developmental Disorder, Autosomal Dominant 48
Lateral ventricle dilatation, Polymicrogyria, Dilated fourth ventricle, Hypoplasia of the corpus ... OMIM:617751
Multiple Sclerosis, Susceptibility To
Paresthesia, CNS demyelination OMIM:126200
Microcephaly 26, Primary, Autosomal Dominant
Ventriculomegaly, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Pa... OMIM:619179
Wiedemann-Rautenstrauch Syndrome
CNS hypomyelination, Leukodystrophy, Polymicrogyria, Abnormal corpus striatum morphology, Action ... ORPHA:3455
Cog5-Cdg
Lateral ventricle dilatation, Diffuse cerebral atrophy, Cerebral white matter atrophy, Microcepha... ORPHA:263487
Metachromatic Leukodystrophy, Late Infantile Form
Punctate periventricular T2 hyperintense foci, Tip-toe gait, Leukodystrophy, Gait ataxia, Progres... ORPHA:309256
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Fasting hypoglycemia, Hypertriglycerid... ORPHA:2088
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Microcephaly, Hydrocephalus OMIM:614219
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, C... OMIM:617260
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Elbow flexion contracture, Hypertrophic cardiomyo... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Elbow flexion contracture, Hypertrophic cardiomyo... ORPHA:98853
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corp... OMIM:618291
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Neonatal death OMIM:618810
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Hyperglycemia, Portal hypertension, Arrhythmia, Elevate... ORPHA:465508
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Ventriculomegaly, Leukodystrophy, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria ORPHA:370997
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased circulating cortisol level, Obesity OMIM:609734
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Beta-Ketothiolase Deficiency
Hypotension, Hypoglycemia, Hyperglycemia, Weight loss, Hypertension ORPHA:134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Leukodystrophy, Polymicrogyria, Cerebral calcification, Hypoplasia of the corpu... OMIM:616538
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Secondary microcephaly, Cerebral hypomyelination, Primary microcephaly, Hypoplasia of the corpus ... ORPHA:447997
Pituitary Adenoma 4, Acth-Secreting
Obesity, Glucose intolerance, Abdominal obesity, Hypertension, Impaired glucose tolerance OMIM:219090
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Lateral ventricle dilatation OMIM:619278
X-Linked Cerebral Adrenoleukodystrophy
Difficulty walking, Inability to walk, Abnormal periventricular white matter morphology, Dysmetri... ORPHA:139396
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Difficulty walking, Gait ataxia, Microcephaly, CNS demyelination, Exaggerated startle res... OMIM:620451
Cerebrofacioarticular Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dysplastic corp... ORPHA:314679
Dysbetalipoproteinemia
Obesity, Xanthelasma, Angina pectoris, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellitus ORPHA:412
Waardenburg Syndrome, Type 4A
Leukodystrophy, Ataxia OMIM:277580
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal corpus callosum morphology, Broad-based gait, Hypoplastic anterior commissure, Lateral v... ORPHA:261552
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Cerebral atrophy, Limb dystonia, Opisthotonus, Microcephaly, Primar... OMIM:619847
Fanconi Anemia, Complementation Group I
Microcephaly, Colpocephaly, Absent septum pellucidum, Agenesis of corpus callosum OMIM:609053
Combined Oxidative Phosphorylation Deficiency 4
Opisthotonus, Microcephaly, Leukodystrophy, Polymicrogyria OMIM:610678
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Diabetes mellitus, Glycosuria, Hypoglycemia OMIM:616026
Gaisböck Syndrome
Elevated diastolic blood pressure, Obesity, Hypertension, Angina pectoris, Hypercholesterolemia, ... ORPHA:90041
Pancreatic And Cerebellar Agenesis
Failure to thrive, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue, Flexion cont... OMIM:609069
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Spondyloenchondrodysplasia
Ventriculomegaly, Chorea, Cerebral calcification, Abnormal lateral ventricle morphology, Abnormal... ORPHA:1855
Halperin-Birk Syndrome
Inability to walk, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618651
Metachromatic Leukodystrophy, Juvenile Form
Punctate periventricular T2 hyperintense foci, Leukodystrophy, Progressive gait ataxia, Dystonia,... ORPHA:309263
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Secondary microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Colpoceph... OMIM:620113
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Periventricular cysts, Dysplastic corpus c... ORPHA:544488
Leigh Syndrome
Diffuse spongiform leukoencephalopathy, Abnormal basal ganglia MRI signal intensity, Neuronal los... ORPHA:506
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Somatic sensory dysfunction, Abnormal basal ganglia morpholog... ORPHA:83597
Gabriele-De Vries Syndrome
Lateral ventricle dilatation, Tip-toe gait, Tremor, Delayed CNS myelination, Cortical dysplasia, ... OMIM:617557
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Ataxia, Lateral ventricle dilatation, Abnormal cerebral whit... ORPHA:457279
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Failure to thrive, Hyperglycemia, Weigh... ORPHA:99885
De Sanctis-Cacchione Syndrome
Ventriculomegaly, Cerebral atrophy, Leukodystrophy, Basal ganglia calcification, Microcephaly, Sc... OMIM:278800
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination, Ataxia OMIM:200100
Alstrom Syndrome
Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Congestive heart failure, Hyperglyce... OMIM:203800
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Cerebral calcification, Microcephaly OMIM:617397
Secondary Syringomyelia
Somatic sensory dysfunction, Difficulty walking, Paresthesia, CNS demyelination, Sensory ataxia, ... ORPHA:99857
Severe X-Linked Intellectual Disability, Gustavson Type
Microcephaly, Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Portal hypertension, Inguinal hernia, Steatorrhea, Flexion contractur... ORPHA:440713
Metachromatic Leukodystrophy, Adult Form
Punctate periventricular T2 hyperintense foci, Leukodystrophy, Difficulty walking, Chorea, Progre... ORPHA:309271
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Large for gestational age, Overgrowth, Omphalocele, Small for gestational age ORPHA:254534
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Focal polymicr... OMIM:619103
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hypoglycemia, Cardiomyopathy, Increased body weight, Hypercholesterolemia, Fas... ORPHA:264580
Canavan Disease
Opisthotonus, CNS demyelination, Microcephaly OMIM:271900
Rere-Related Neurodevelopmental Syndrome
Ventriculomegaly, CNS demyelination, Hypoplasia of the corpus callosum ORPHA:494344
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Increased body weight, Ketotic hypoglycemia, Hypercholesterolemia, Fastin... ORPHA:79240
Smith-Magenis Syndrome
Increased body weight, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia calcification, Cerebral calcificati... OMIM:619487
Niemann-Pick Disease Type C
Leukodystrophy, Cerebral atrophy, Chorea, Limb dystonia, Axial dystonia, Tremor, Hypoplasia of th... ORPHA:646
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lewy bodies, Lateral ventricle dilatation, Neurofibrillary tangles OMIM:607485
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:618914
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Progressive Multifocal Leukoencephalopathy
Somatic sensory dysfunction, Paresthesia, Gait ataxia, Dysmetria, CNS demyelination ORPHA:217260
Biliary, Renal, Neurologic, And Skeletal Syndrome
Frontotemporal cerebral atrophy, CNS hypomyelination, Lateral ventricle dilatation, Neonatal deat... OMIM:619534
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Periventricular leukomalacia, Abnormal caudate nucleus morphology, ... ORPHA:293725
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Hydrocephalus, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:612863
Cushing Disease
Increased circulating cortisol level, Dorsocervical fat pad, Capillary fragility, Increased body ... ORPHA:96253
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Type II lissencephaly, H... OMIM:613154
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Ventriculomegaly, Dilated third ventricle, Open operculum, L... ORPHA:397715
Hyperglycinemia, Lactic Acidosis, And Seizures
Cerebral atrophy, Cerebral edema, Microcephaly, Leukodystrophy OMIM:614462
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Difficulty walking, Inab... ORPHA:464738
Cole Disease
Hyperglycemia OMIM:615522
Dermatoleukodystrophy
Leukodystrophy OMIM:221790
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
Aromatase Deficiency
Insulin resistance, Tall stature, Obesity, Hyperlipidemia, Eunuchoid habitus, Type II diabetes me... ORPHA:91
Peroxisome Biogenesis Disorder 12A (Zellweger)
Microcephaly, CNS demyelination, Hydrocephalus, Cerebral atrophy OMIM:614886
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Leukoencephalopathy, Leukodystrophy, Cerebral calcification, Tremor, Abnormal pyramidal tract mor... OMIM:612199
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum OMIM:618569
Waardenburg Syndrome, Type 2E
Cerebral hypomyelination OMIM:611584
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Secondary microcephaly, Inability to walk, Tremor... OMIM:619229
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bundle branch block, H... ORPHA:466677
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Leukodystrophy, Ataxia OMIM:614299
Combined Oxidative Phosphorylation Deficiency 59
Cerebral edema, CNS demyelination, Abnormal basal ganglia MRI signal intensity OMIM:620646
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... ORPHA:769
Sotos Syndrome
Tall stature, Glucose intolerance, Increased body weight, Overgrowth, Neonatal hypoglycemia OMIM:117550
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Colpocephaly, Hypoplasia of the corpus callosum ORPHA:261250
6Q Terminal Deletion Syndrome
Abnormal cerebral cortex morphology, Polymicrogyria, Gait ataxia, Hypoplasia of the corpus callos... ORPHA:75857
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Leukodystrophy ORPHA:444013
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Inability to walk, Microcephaly, Colpocephaly, Ataxia, Dystonia OMIM:620083
Atypical Werner Syndrome
Aortic valve stenosis, Chondrocalcinosis, Failure to thrive, Insulin-resistant diabetes mellitus,... ORPHA:79474
Choreoacanthocytosis
Blepharospasm, Impaired vibratory sensation, Cerebral cortical atrophy, Falls, Resting tremor, La... ORPHA:2388
Distal Deletion 10Q
Ataxia, Lateral ventricle dilatation, Microcephaly, Cavum septum pellucidum, Unsteady gait ORPHA:96148
Sjogren-Larsson Syndrome
CNS demyelination OMIM:270200
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Second degree atrioventricular block, Obesity, Palpitations, Shortene... ORPHA:79102
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Aicardi Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Polymicrogyria, Microcephaly, Delayed CNS ... OMIM:304050
Peroxisome Biogenesis Disorder 5A (Zellweger)
Polymicrogyria, Agenesis of corpus callosum, Colpocephaly, Pachygyria, Athetosis OMIM:614866
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Reduced subcutaneous adipose tissue, F... OMIM:227810
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Failure to thrive, Hyperaldosteronism, Hypertroph... ORPHA:508
Immunodeficiency 23
Abnormal CNS myelination, Somatic sensory dysfunction, Ataxia OMIM:615816
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus OMIM:615710
Aicardi-Goutières Syndrome
Degeneration of the striatum, Ventriculomegaly, Leukodystrophy, Difficulty walking, Cerebral calc... ORPHA:51
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus OMIM:309801
Isolated Complex I Deficiency
Leukoencephalopathy, Microcephaly, Leukodystrophy, Ataxia ORPHA:2609
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Delayed myelination, Cerebral white matter hypoplasia, Hypoplasia of the corpus cal... ORPHA:477993
Dend Syndrome
Hyperglycemia ORPHA:79134
Heart Defects, Congenital, And Other Congenital Anomalies
Glyco