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:
PP2C-epsilon,  Pp2ce,  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
Megalencephaly With Dysmyelination
Cerebral dysmyelination, Abnormal cerebral white matter morphology, Megalencephaly, Ataxia OMIM:249240
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Leukoencephalopathy, Brain Calcifications, And Cysts
Leukodystrophy, Tremor, Dystonia, Gait disturbance, Ataxia, Cerebral calcification, Leukoencephal... OMIM:614561
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications
Hypoplasia of the corpus callosum, Cerebral atrophy, Delayed CNS myelination, Periventricular leu... OMIM:618875
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Leukodystrophy, Dystonia, Difficulty walking, Hypoplasia of the corpus callosum, Cerebral atrophy... ORPHA:527497
Leukodystrophy, Hypomyelinating, 11
Hypoplasia of the corpus callosum, Tremor, Leukodystrophy, Ataxia OMIM:616494
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertension, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes ... ORPHA:71529
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Diffuse white matter abnormalities, Leukodystrophy, Dystonia, Secondary microcephaly, Microcephaly OMIM:616763
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dysmetria, CNS... OMIM:610245
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse... OMIM:617542
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Leukodystrophy, Hypoplasia of the corpus callosum, Ataxia, Abnormal up... OMIM:607694
Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Delayed myelination, Abnormal periventricular white matter morphology, Ataxia OMIM:616881
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertension, Sudden cardi... OMIM:610947
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Hypoplasia of the corpus callosum, CNS hypomyelination, Ataxia, Leukoencephalopathy OMIM:615281
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Leukodystrophy, Dystonia, Hypointensity of cerebral white matter on MRI, Ataxia OMIM:619196
Leukodystrophy, Hypomyelinating, 9
Leukodystrophy, Hypoplasia of the corpus callosum, Ataxia, Dysmetria, Intention tremor, Microcephaly OMIM:616140
Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Tremor, Dystonia, Ataxia, Cerebral hypomyelination, Microcephaly, Choreoathetosis OMIM:612438
Tremor-Ataxia-Central Hypomyelination Syndrome
Postural tremor, Positive Romberg sign, Dystonia, Leukodystrophy, Hypoplasia of the corpus callos... ORPHA:447896
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyp... OMIM:608600
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral white matter atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Cerebral hypom... ORPHA:369939
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Leukodystrophy, Hyperintensity of cerebral white matter on MRI, Falls OMIM:619224
Developmental And Epileptic Encephalopathy 93
Inability to walk, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Microce... OMIM:618012
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Hypoplasia of the corpus callosum, Gait disturbance, Leukodystrophy OMIM:616859
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Simplified gyral pattern, ... OMIM:615760
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Progressive gait ataxia, Hypoplasia of the corpus callosum,... ORPHA:289494
Leukodystrophy, Hypomyelinating, 16
Leukodystrophy, Dystonia, Gait ataxia, Hypoplasia of the corpus callosum, Dysmetria, Intention tr... OMIM:617964
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy, Abnormal periventricular white matter morphology OMIM:616370
Developmental And Epileptic Encephalopathy 76
Inability to walk, Delayed CNS myelination, Hypoplasia of the corpus callosum, Cerebral atrophy, ... OMIM:618468
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Deafness, Dystonia, And Cerebral Hypomyelination
Dystonia, Cerebral atrophy, Cerebral hypomyelination, Microcephaly, CNS hypomyelination OMIM:300475
Developmental And Epileptic Encephalopathy 79
Hypoplasia of the corpus callosum, Frontotemporal cerebral atrophy, Cerebral cortical atrophy, Se... OMIM:618559
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Dystonia, Cerebral atrophy, Head titubation, Ataxia, Cerebral hypomyelination, In... OMIM:608804
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Dystonia, Difficulty walking, Hypoplasia of the corpus callosum, Ataxia, Hyperintensity of cerebr... ORPHA:438114
Developmental And Epileptic Encephalopathy 5
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, CNS hypomyelination, Progressi... OMIM:613477
Leukoencephalopathy, Cystic, Without Megalencephaly
Dystonia, Ventriculomegaly, Ataxia, Cerebral calcification, Leukoencephalopathy, Microcephaly, At... OMIM:612951
Aicardi-Goutieres Syndrome 6
Leukodystrophy, Tremor, Dystonia, Loss of ability to walk, Cerebral calcification, Microcephaly OMIM:615010
Kaya-Barakat-Masson Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Limb dystonia, Microcephaly, CNS hypomyelina... OMIM:619125
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Ventriculomegaly, Cerebral atrophy, CNS hypomyelination, Cerebral hypomyelination OMIM:601170
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Spastic gait, Cerebral cortical atrophy, Abnormal myelination, A... ORPHA:401820
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... OMIM:604213
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dysdiadochokinesis, Leukodystrophy, Hypoplasia of the corpus callosum, Ataxia, Cerebral hypomyeli... OMIM:614381
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Developmental And Epileptic Encephalopathy 78
Inability to walk, Microcephaly, CNS hypomyelination, Chorea OMIM:618557
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Developmental And Epileptic Encephalopathy 86
Microcephaly, Dystonia, CNS hypomyelination OMIM:618910
Leukoencephalopathy With Vanishing White Matter
Lethargy, Gait disturbance, Unsteady gait, Cessation of head growth, Leukoencephalopathy, Cerebra... OMIM:603896
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Head tremor, Difficulty walking, Ataxia, Titubation, Cerebral hypomyelination, Confluen... ORPHA:280219
Giant Axonal Neuropathy
Abnormality of the pituitary gland, Difficulty walking, Unsteady gait, Falls, Distal sensory impa... ORPHA:643
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Delayed myelination, Ventriculomegaly, Exaggerated startle response, Microcephaly, CNS hypomyelin... OMIM:618367
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Ataxia, Dysplastic corpus callosum, Microcephaly OMIM:618276
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia OMIM:256450
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hypertension, Myocardial infarction, Hypertriglyceridem... OMIM:615703
Retinal Dystrophy With Leukodystrophy
Waddling gait, Falls, Dysmetria, Truncal titubation, CNS hypomyelination, Progressive microcephaly OMIM:618863
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Congenital Cataracts, Hearing Loss, And Neurodegeneration
CNS hypomyelination, Cerebral atrophy OMIM:614482
Leukodystrophy, Hypomyelinating, 10
Inability to walk, Leukodystrophy, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebral ... OMIM:616420
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Spastic gait, Dysplastic corpus callosum OMIM:613162
Null Syndrome
Inability to walk, Difficulty walking, Demyelinating peripheral neuropathy, Ataxia, Peripheral de... ORPHA:280234
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Difficulty walking, Ataxia, Abnormal myelination, Macrogyria, Titubation, Cere... ORPHA:280210
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Microcephaly 10, Primary, Autosomal Recessive
Microcephaly, CNS hypomyelination, Cerebral atrophy, Delayed myelination OMIM:615095
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Subependymal cysts, Neonatal death, CNS hypomyelination, Dilat... OMIM:610015
Multiple Mitochondrial Dysfunctions Syndrome 5
Leukodystrophy, Pachygyria, Delayed myelination, Ventriculomegaly, Microcephaly OMIM:617613
Hereditary Methemoglobinemia
Temporal cortical atrophy, Delayed myelination, Frontal cortical atrophy, Cerebral hypomyelinatio... ORPHA:621
Pelizaeus-Merzbacher Disease In Female Carriers
Inability to walk, Difficulty walking, Gait disturbance, Abnormal corpus callosum morphology, Hyp... ORPHA:280229
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Dystonia, Cerebral atrophy, CNS hypomyelination, Simplified gyral pattern, Microcephaly, Thin cor... OMIM:619286
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Inability to walk, Dystonia, Type II lissencephaly, Normal pr... ORPHA:300570
Gaba-Transaminase Deficiency
Leukodystrophy, Lethargy, Agenesis of corpus callosum OMIM:613163
Lissencephaly 3
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Polymicrogyria, Agyria, ... OMIM:611603
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Leukodystrophy, Ataxia, Leukoencephalopathy OMIM:618242
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral cortical a... OMIM:618193
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Hand tremor, Abnormal myelination, Agenesis of corpus callosum ORPHA:401830
2,4-Dienoyl-Coa Reductase Deficiency
Leukodystrophy, Dystonia, Ventriculomegaly, Cerebral atrophy, Microcephaly, Choreoathetosis OMIM:616034
Developmental And Epileptic Encephalopathy 29
Dystonia, Chorea, Cerebral atrophy, Blepharospasm, Microcephaly, CNS hypomyelination OMIM:616339
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination, Ataxia ORPHA:88637
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Small cerebral cortex, Cortical dysplasia, S... OMIM:608716
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Dystonia, Axial dystonia, Difficulty walking, Chorea, Toe walking, Head tituba... ORPHA:300605
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Corpus callosum atrophy, Ventriculomegaly, Cerebral hypomyelination, Leukoencephalopathy, Seconda... OMIM:608809
Spinocerebellar Ataxia Type 2
Postural tremor, Kinetic tremor, Gait ataxia, Dystonia, Cerebral white matter atrophy, Chorea, Sp... ORPHA:98756
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Tremor, Difficulty walking, Hypoplasia of the corpus callosum, Microcephaly, Abnormal CNS myelina... ORPHA:477673
Epilepsy, Hearing Loss, And Mental Retardation Syndrome
Hypoplasia of the corpus callosum, CNS hypomyelination, Microcephaly OMIM:616577
Charcot-Marie-Tooth Disease, Type 4A
Basal lamina onion bulb formation, Peripheral hypomyelination, Decreased number of peripheral mye... OMIM:214400
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Umbilical hernia, Hypoinsulinemia, Small... ORPHA:99886
Alexander Disease
Hydrocephalus, Ataxia, Diffuse demyelination of the cerebral white matter OMIM:203450
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Abnormal cerebral white matter morphology, Bradykinesia, Leukoencephalopathy, CNS demyelination, ... OMIM:221820
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Severe demyelination of the white matter, Abnorma... ORPHA:488635
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Hypertension, Diabetes mellitus OMIM:613877
Developmental And Epileptic Encephalopathy 4
Hypoplasia of the corpus callosum, Tremor, Cerebral atrophy, Cerebral hypomyelination OMIM:612164
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Cerebral atrophy, Opisthotonus, Cerebral hypomyelination, Hyperac... OMIM:103050
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Cavitating leukodystrophy, Ataxia OMIM:619061
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Ventriculomegaly, Cerebral atrophy, Abnormal myelination, Agenesis of co... ORPHA:85179
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Central Neurocytoma
Lethargy, Paresthesia, Hydrocephalus, Pain insensitivity, Ataxia, Cerebral calcification, Abnorma... ORPHA:73256
Aminoacylase 1 Deficiency
Cerebral atrophy, Delayed CNS myelination, Hyperactivity OMIM:609924
Autosomal Recessive Spastic Paraplegia Type 66
Difficulty walking, Hypoplasia of the corpus callosum, Spastic gait, Impaired vibration sensation... ORPHA:401815
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Pachygyria, Hypoplasia of the corpus callosum, Simplified gyral pattern, Microcephaly, CNS hypomy... OMIM:615966
Developmental And Epileptic Encephalopathy 75
Frontal cortical atrophy, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Secondary... OMIM:618437
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Ataxia ORPHA:85334
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Attention deficit hyperactivity disorder, Pachygyria, Abnormal caudate n... ORPHA:300573
Leukodystrophy, Hypomyelinating, 4
Secondary microcephaly, Choreoathetosis, Leukodystrophy OMIM:612233
Combined Oxidative Phosphorylation Deficiency 24
Hypoplasia of the corpus callosum, CNS hypomyelination, Microcephaly, Agenesis of corpus callosum OMIM:616239
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Hyperten... OMIM:604367
Neuropathy, Congenital Hypomyelinating, 3
Hypoplasia of the corpus callosum, Dystonia, Microcephaly, CNS hypomyelination OMIM:618186
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Orthostatic hypotensi... OMIM:606721
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Diffuse white matter abnormalities, Gait disturbance, Ataxia, Diffuse demyelination of the cerebr... OMIM:600142
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Gait ataxia, Abnormal periventricular white matter morphology, Peripheral demy... OMIM:249900
Combined Oxidative Phosphorylation Deficiency 11
Lethargy, Pachygyria, Delayed myelination, Hypoplasia of the corpus callosum, Cerebral cortical a... OMIM:614922
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Insulin resistance ORPHA:140941
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Inability to walk, Difficulty walking, Hypoplasia of the corpus callosum, Ataxia, Severe demyelin... ORPHA:481152
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Leukodystrophy, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly OMIM:618006
Combined Saposin Deficiency
Hypoplasia of the corpus callosum, CNS demyelination, Abnormal periventricular white matter morph... OMIM:611721
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:171703
Developmental And Epileptic Encephalopathy 34
Inability to walk, Secondary microcephaly, Cerebral atrophy, Delayed CNS myelination OMIM:616645
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Somatic sensory dysfunction, CNS hypomyelination, Ataxia ORPHA:320401
Leukodystrophy, Hypomyelinating, 3
Leukodystrophy, Corpus callosum atrophy, Diffuse cerebral sclerosis, Sudanophilic leukodystrophy,... OMIM:260600
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Delayed CNS myelination, Hypoplasia of the corpus callosum, Cerebral atrophy, Ataxia, Leukoenceph... OMIM:619260
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Head titubation, Ataxia, Cerebral dysmyelination, Sudanophilic leukodystrophy, ... OMIM:312080
Peroxisome Biogenesis Disorder 11A (Zellweger)
Polymicrogyria, CNS hypomyelination, Lissencephaly OMIM:614883
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Microcephaly, Cerebral atrophy, Waddling gait, Delayed CNS myelination OMIM:619090
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Maternal diabetes, Arrhythmia, Paroxysmal supraventricular tachycardia... ORPHA:45452
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Postural hypotension with compensatory tachycardia, Hypote... ORPHA:369873
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance OMIM:614662
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Pyruvate Carboxylase Deficiency
Tremor, Basal ganglia gliosis, Agenesis of corpus callosum, Cerebral white matter atrophy, Dyston... ORPHA:3008
Leukodystrophy, Hypomyelinating, 12
Delayed myelination, Hypoplasia of the corpus callosum, Ventriculomegaly, Secondary microcephaly,... OMIM:616683
Frontal Encephalocele
Hydrocephalus, Leukodystrophy, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification ORPHA:1931
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
Leukodystrophy, Hypomyelinating, 5
Inability to walk, Leukodystrophy, Cerebral white matter atrophy, Intention tremor, Loss of abili... OMIM:610532
Developmental And Epileptic Encephalopathy 35
Limb tremor, Cerebral atrophy, Microcephaly, Delayed CNS myelination OMIM:616647
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Pachygyria, Delayed CNS myelination, Impaired tactile sensation, Hypoplasia of the corpus callosu... OMIM:619091
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Hypertension, Increased body weight, Abdominal obesity, Hyp... OMIM:615954
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Lipoatrophy, Hypertension, Hypertriglyceridemia, Loss of gluteal subcutaneous a... ORPHA:280356
Pontocerebellar Hypoplasia, Type 15
Dystonia, Delayed CNS myelination, Hydrocephalus, Simplified gyral pattern, Agenesis of corpus ca... OMIM:619302
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Inability to walk, Tremor, Dystonia, Difficulty walking, Chorea, Cerebral atrophy, Ataxia, Waddli... OMIM:615356
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
CNS hypomyelination, Delayed myelination, Broad-based gait OMIM:616158
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Lipodystrophy, Diabetes mellitus, Insulin resistance OMIM:615980
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal CNS myelination ORPHA:521390
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Inability to walk, Hypoplasia of the corpus callosum, Ventriculomegaly, Secondary microcephaly, A... OMIM:617193
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Difficulty walking, Bradykinesia, Cerebral cortical hemiatrophy, Dilation of la... ORPHA:306669
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance OMIM:147630
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Narcolepsy Type 1
Obesity, Syncope ORPHA:2073
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Peroxisome Biogenesis Disorder 8B
Dysmetria, Leukodystrophy, Corpus callosum atrophy, Ataxia OMIM:614877
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Mitochondrial Complex I Deficiency, Nuclear Type 5
Leukodystrophy, Dystonia, Lethargy, Ataxia, Leukoencephalopathy, Progressive microcephaly OMIM:618226
S-Adenosylhomocysteine Hydrolase Deficiency
Delayed myelination, Hypoplasia of the corpus callosum, Ventriculomegaly, Hyperintensity of cereb... ORPHA:88618
Leukodystrophy, Hypomyelinating, 15
Inability to walk, Leukodystrophy, Dystonia, Hypoplasia of the corpus callosum, Cerebral atrophy,... OMIM:617951
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Delayed myelination, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculo... ORPHA:79351
Aicardi-Goutieres Syndrome 5
Leukodystrophy, Basal ganglia calcification, Leukoencephalopathy, Microcephaly, Deep white matter... OMIM:612952
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Spastic Paraplegia 35, Autosomal Recessive
Dystonia, Abnormal periventricular white matter morphology, Difficulty walking, Hypoplasia of the... OMIM:612319
Pontocerebellar Hypoplasia, Type 14
Delayed CNS myelination, Dystonia, Agenesis of corpus callosum, Simplified gyral pattern OMIM:619301
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Progressive Myoclonic Epilepsy With Dystonia
Microcephaly, Dystonia, Diffuse cerebral atrophy, Delayed CNS myelination ORPHA:352596
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination ORPHA:85163
Aicardi-Goutieres Syndrome 4
Leukodystrophy, Dystonia, Ventriculomegaly, Cerebral atrophy, Cerebral calcification, Progressive... OMIM:610333
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Truncal ataxia, Unsteady gait, Dysmetria, Intention tremor, Agenesis of co... ORPHA:453521
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Hydrocephalus,... ORPHA:2185
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Tremor, Gait ataxia, Truncal ataxia, Dystonia, Delayed CNS myelination, Hypopl... OMIM:618877
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism
Ventriculomegaly, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, C... OMIM:614501
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Palpitations, Hyperinsulinemic hypoglycemia, Hyperin... ORPHA:276575
Leukodystrophy, Hypomyelinating, 22
Inability to walk, CNS hypomyelination OMIM:619328
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus, Small for gestational age OMIM:606176
Hyperostosis Frontalis Interna
Diabetes mellitus, Obesity OMIM:144800
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Panhypopituitarism, Hypoplasia of the corpus callosum, Cerebral atrophy, Hippocampal atrophy, Mic... OMIM:618922
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Dystonia, Dysplastic corpus callosum OMIM:252650
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Adipose tissue loss, Increa... OMIM:151660
Marbach-Rustad Progeroid Syndrome
Microcephaly, CNS hypomyelination, Hyperintensity of cerebral white matter on MRI, Intention tremor OMIM:619322
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Hyp... ORPHA:276556
Developmental And Epileptic Encephalopathy 70
Cerebral cortical atrophy, Ventriculomegaly, Microcephaly, Delayed CNS myelination OMIM:618298
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Microcephaly, Cerebral atrophy, Delayed CNS myelination, Dandy-Walker malformation OMIM:616154
Polyrrhinia
Abnormal third ventricle morphology, Dilation of lateral ventricles ORPHA:141091
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Microcephaly, CNS hypomyelination, Progressive microcephaly, Simplified gyral pattern OMIM:618622
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Bradykinesia, Dilated third ventricle, Diffuse cerebral atrophy, Scissor gait, Di... ORPHA:363654
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Lipoatrophy, Hypertension, Diabetes mellitus ORPHA:79084
Snijders Blok-Fisher Syndrome
Delayed CNS myelination, Hypoplasia of the olfactory bulb, Hypoplasia of the corpus callosum, Opi... OMIM:618604
Adult Krabbe Disease
Impaired tactile sensation, Gait disturbance, Ataxia, Abnormal corpus callosum morphology, Morpho... ORPHA:206448
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Hypertension, Increased body weig... OMIM:615830
Developmental And Epileptic Encephalopathy 39
Cerebral hypomyelination OMIM:612949
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Failure to thrive, Increased adipose tissue, Childhood-o... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Failure to thrive, Increased adipose tissue, Childhood-o... ORPHA:71526
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Myocardial infarction, Hypertriglyceridemia, Type II diabetes mellitus, Obesity OMIM:618620
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Developmental And Epileptic Encephalopathy 73
Hypoplasia of the corpus callosum, Microcephaly, Delayed CNS myelination OMIM:618379
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Ventriculomegaly, Neuronal loss in the cerebral cortex, Diffuse demyelination of the ... ORPHA:168486
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Truncal ataxia, Spastic ataxia, Hypoplasia of the corpus callosum, Difficulty walking, Ce... ORPHA:137898
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Orofaciodigital Syndrome Xvii
Ventriculomegaly, CNS hypomyelination OMIM:617926
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Dystonia, ... ORPHA:79243
Leigh Syndrome With Leukodystrophy
Progressive cerebellar ataxia, Focal T2 hyperintense basal ganglia lesion, Leukodystrophy, Dystonia ORPHA:255241
Optic Atrophy With Demyelinating Disease Of Cns
CNS demyelination, Ataxia, Peripheral demyelination OMIM:165200
Ddost-Cdg
Tremor, CNS hypomyelination ORPHA:300536
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300864
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Leukodystrophy, Delayed CNS myelination, Head titubation, Ataxia, Dysmetria, Intention tremor OMIM:618688
Multiple Mitochondrial Dysfunctions Syndrome 3
Leukodystrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cer... OMIM:615330
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Hypoplasia of the corpus callosum, Bradykinesia, Dysplastic corpus callosum, Leukoencep... OMIM:614924
Pyruvate Carboxylase Deficiency
Leukodystrophy, Neuronal loss in the cerebral cortex, Periventricular leukomalacia OMIM:266150
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Leukodystrophy, Dystonia, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Chor... ORPHA:431361
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Diffuse demyelination of the cerebral white matter, Microcephaly, Diffus... ORPHA:77299
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Warburg Micro Syndrome 1
Delayed CNS myelination, Enlarged sylvian cistern, Hypoplasia of the corpus callosum, Cerebral at... OMIM:600118
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Joint contracture of the hand, Obesity OMIM:264010
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the corpus callosum, Fusion of the left and right thalami, Dilated fourth ventricle... OMIM:619306
Hyperglycinemia, Lactic Acidosis, And Seizures
Microcephaly, Cerebral atrophy, Leukodystrophy OMIM:614462
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Delayed CNS myelination, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Abnor... OMIM:618603
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Corpus callosum atrophy, Symmetric peripheral demyelination, Diffuse leukoencepha... OMIM:169500
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia ORPHA:2089
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Bardet-Biedl Syndrome 22
Obesity OMIM:617119
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Delayed myelination, Dilation of lateral ventricles, Partial agenesis of the co... OMIM:617296
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Cardiomyopathy, Type II diabetes mellitus OMIM:520000
Pontocerebellar Hypoplasia, Type 1F
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Delayed CNS myelination OMIM:619304
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria OMIM:618857
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Primary microceph... ORPHA:496641
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Primary microcep... ORPHA:457351
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Corticospinal tract hypoplasia, Hypoplasia of the corpus... ORPHA:255138
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Hypertension, Myocardial infarction, Truncal obesity, Abdominal obesity OMIM:615812
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Hypoplasia of the corpus callosum, Abnormal cereb... ORPHA:178469
Leukodystrophy, Progressive, Early Childhood-Onset
Hypoplasia of the corpus callosum, Dystonia, Cerebral atrophy, Leukodystrophy OMIM:617762
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Overweight, Flexion contracture, Hype... OMIM:616222
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Diabetes mellitus, Obesity OMIM:615981
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Leukodystrophy, Dystonia, Truncal ataxia, Limb ataxia, Head titubation OMIM:617560
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance OMIM:144600
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Multifocal cerebral white matter abnormalities, Delayed CNS myelination, Dila... OMIM:600721
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Delayed CNS myelination, Hypoplasia of the corpus callosum, Ventriculomegaly, Hypoplastic anterio... OMIM:616975
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Sandhoff Disease
Exaggerated startle response, Impaired temperature sensation, CNS hypomyelination, Ataxia OMIM:268800
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Hypoplasia of the corpus callosum, Gait disturbance, Ventriculomegaly, Dilati... ORPHA:488627
Leigh Syndrome
Dystonia, CNS demyelination, Focal substantia nigra T2 hyperintensity, Ataxia OMIM:256000
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Glucose intolerance, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Allan-Herndon-Dudley Syndrome
Inability to walk, Leukodystrophy, Delayed CNS myelination, Elevated circulating thyroid-stimulat... OMIM:300523
Glutaric Acidemia I
Dystonia, Symmetrical progressive peripheral demyelination, Delayed myelination, Opisthotonus, Ch... OMIM:231670
L-2-Hydroxyglutaric Aciduria
Leukoencephalopathy, Corpus callosum atrophy, Morphological abnormality of the pyramidal tract, S... OMIM:236792
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Wars2-Related Combined Oxidative Phosphorylation Defect
Tremor, Delayed myelination, Abnormal periventricular white matter morphology, Difficulty walking... ORPHA:572798
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly, Delayed CNS myelination OMIM:618731
Krabbe Disease
CNS demyelination, Diffuse cerebral atrophy, Hydrocephalus, Peripheral demyelination OMIM:245200
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Cerebral atrophy, Agenesis of corpus callosum OMIM:600329
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callo... ORPHA:2524
Marchiafava-Bignami Disease
Gait ataxia, Gait disturbance, Ataxia, Abnormal corpus callosum morphology, Abnormality of the ba... ORPHA:221074
Multiple Sulfatase Deficiency
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Ataxia, Per... OMIM:272200
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Microcephaly, Agenesis of corpus callosum, Dilation of lateral ventricles, Dandy-Walker malformation OMIM:618736
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Delayed myelination, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Primary... ORPHA:284417
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Diffuse white matter abnormalities, Abnormal periventricular white matter morphology, Delayed CNS... ORPHA:466934
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, CNS demyelination, Peripheral demyelination OMIM:250850
Chromosome 14Q11-Q22 Deletion Syndrome
Inability to walk, Hypoplasia of the corpus callosum, Abnormal CNS myelination, Microcephaly OMIM:613457
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Reactive hypoglycemia, Obesity OMIM:600955
Xeroderma Pigmentosum, Complementation Group B
Ventriculomegaly, Ataxia, Basal ganglia calcification, Microcephaly, Abnormal CNS myelination OMIM:610651
Peroxisomal Acyl-Coa Oxidase Deficiency
Leukodystrophy, Dystonia, CNS demyelination OMIM:264470
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, ST segment depression, Hypertension, Myocardial infarction... ORPHA:90065
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Micro... OMIM:618606
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Hypoplastic hipp... ORPHA:208447
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:614833
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Summitt Syndrome
Obesity OMIM:272350
Pyridoxine-Dependent Epilepsy
Hypoplasia of the corpus callosum, Ventriculomegaly, Delayed CNS myelination ORPHA:3006
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Cach Syndrome
T2 hypointense thalamus, Truncal ataxia, Limb ataxia, Cerebral atrophy, Dysmetria, Microcephaly, ... ORPHA:135
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Hypertrophic cardiomyopathy OMIM:615418
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Ventriculome... OMIM:616900
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Delayed myelinati... ORPHA:2148
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Truncal obesity, Diabetes mellitus, Failure to thrive, Hypertension ORPHA:189427
Late-Infantile/Juvenile Krabbe Disease
Tremor, Impaired tactile sensation, Difficulty walking, Gait disturbance, Ataxia, Acroparesthesia... ORPHA:206443
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpho... ORPHA:565624
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Microcephaly, Dilati... OMIM:617751
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Hypoplasia of the corpus callosum, Microcephaly, Delayed CNS myelination, Choroid plexus cyst OMIM:619076
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Ventriculomegaly, Abnormal CNS myelination OMIM:611555
Developmental And Epileptic Encephalopathy 87
Cerebral atrophy, Delayed CNS myelination OMIM:618916
Aicardi-Goutieres Syndrome 1
Dystonia, Cerebral atrophy, Microcephaly, Basal ganglia calcification, Leukoencephalopathy, Morph... OMIM:225750
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Corticospinal tract hypoplasia, Aqueductal... OMIM:307000
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Dystonia, Choreoathetosis OMIM:614932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Leukodystrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Agyria, Cere... OMIM:616538
Insulinoma
Palpitations, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Nonketot... ORPHA:97279
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Overweight, Aortic regurgitation, Renovascular hypertension, Type II diabet... ORPHA:401923
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Leukodystrophy, Dystonia, Delayed myelination, Hypoplasia of the corpus callosum, Abnormal cerebr... OMIM:615471
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Abnormal periventricular white matter morphology, Difficulty walking, Gait dis... ORPHA:139396
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Dy... ORPHA:70474
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypoplasia of the corpus callosum, Gait disturbance, Ventriculomegaly, Ataxia, Cerebral cortical ... ORPHA:268261
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Autosomal Recessive Cutis Laxa Type 2A
Inability to walk, Dystonia, Pachygyria, Thick cerebral cortex, Ataxia, Primary microcephaly, Dys... ORPHA:357058
Slc35A2-Cdg
Inability to walk, Delayed myelination, Cerebral white matter atrophy, Hypoplasia of the corpus c... ORPHA:356961
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology OMIM:615280
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Leukodystrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Agyria ORPHA:370997
Primary Lipodystrophy
Insulin resistance, Angina pectoris, Lipodystrophy, Lipoatrophy, Hypertension, Congestive heart f... ORPHA:90970
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Mitral regurgitation, Aortic regurgitation, Obesity OMIM:614651
Malan Overgrowth Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Episodic ataxia, Dilation of lateral ventricles ORPHA:420179
Developmental And Epileptic Encephalopathy 84
Dystonia, Delayed CNS myelination, Chorea, Ventriculomegaly, Opisthotonus, Microcephaly OMIM:618792
Short Syndrome
Glucose intolerance, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Inguinal he... OMIM:269880
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Obesity OMIM:610628
Combined Oxidative Phosphorylation Deficiency 4
Opisthotonus, Polymicrogyria, Microcephaly, Leukodystrophy OMIM:610678
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypoplasia of the corpus callosum, Primary microcephaly, Cerebral hypomyelination, Hyperactivity,... ORPHA:447997
Mehmo Syndrome
Diabetes mellitus, Obesity ORPHA:85282
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Leukodystrophy, Lethargy, Ataxia OMIM:614299
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Delayed myelination, Dilation of lateral ventricles ORPHA:85290
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gait ataxia, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral hypomyelin... ORPHA:513456
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Rhizomelic Chondrodysplasia Punctata, Type 1
Cerebral cortical atrophy, Microcephaly, Delayed CNS myelination OMIM:215100
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Hypointensity of cerebral white matter on MRI, Abnormal periv... ORPHA:83597
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Hypoplas... ORPHA:2822
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Palpitations, Increas... ORPHA:1501
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Gait ataxia, Delayed CNS myelination, Akinesia, Limb ataxia, Ataxia, P... OMIM:607454
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Obesity, Cardiogenic shock, Syncope, Decreased QR... ORPHA:66529
Metachromatic Leukodystrophy, Late Infantile Form
Leukodystrophy, Dystonia, Gait ataxia, Punctate periventricular T2 hyperintense foci, Progressive... ORPHA:309256
Hyperphosphatasia-Intellectual Disability Syndrome
Gait disturbance, Cerebral hypomyelination, Ataxia ORPHA:247262
Central Precocious Puberty
Overgrowth, Increased body weight, Obesity ORPHA:759
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Metachromatic Leukodystrophy, Juvenile Form
Leukodystrophy, Dystonia, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia,... ORPHA:309263
Childhood-Onset Spasticity With Hyperglycinemia
Loss of ability to walk in early childhood, Unsteady gait, Leukodystrophy, Ataxia ORPHA:401866
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Obesity ORPHA:254531
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Obesity OMIM:609734
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Hyperinsulinemia, Keloids, Type II diabetes mellitus ORPHA:3085
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Simplified gyral pattern, Communicating hydrocephalus, Lissencephaly OMIM:615219
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Hypoplasia of the corpus callosum, Delayed CNS myelination, Thick corpus callosum OMIM:618672
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly OMIM:618619
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, Insulin-resistant diabete... ORPHA:66628
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperglycemia, Diabetes mel... OMIM:609069
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Severe f... OMIM:246200
Temple Syndrome
Recurrent hypoglycemia, Small for gestational age, Type II diabetes mellitus, Obesity ORPHA:254516
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Hypoplasia of the corpus callosum, Microcephaly, Temporal cortical atrophy, Delayed CNS myelination OMIM:618862
Multiple Sclerosis, Susceptibility To
CNS demyelination, Paresthesia OMIM:126200
Autosomal Dominant Cerebellar Ataxia
Postural tremor, Tremor, Dystonia, Impaired vibratory sensation, Akinesia, Chorea, Gait disturban... ORPHA:99
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Microcephaly, Delayed CNS myelination, Hyperactivity OMIM:619239
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Peripheral hypomyelination, Demyelinating peripheral neuropathy, Ataxia... OMIM:609136
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, Insulin-resistant diabete... ORPHA:179494
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Arrhythmia, Type II diabetes mellitus, Obesity ORPHA:3191
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Necrotizing Enterocolitis
Hypotension, Small for gestational age, Shock, Hyperglycemia, Bradycardia, Abnormal glucose homeo... ORPHA:391673
Mental Retardation With Language Impairment And With Or Without Autistic Features
Delayed CNS myelination, Attention deficit hyperactivity disorder OMIM:613670
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, CNS demyelination, Ataxia, Peripheral demyelination OMIM:220111
Combined Oxidative Phosphorylation Defect Type 23
Leukodystrophy, Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal intensity ORPHA:444013
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome
Delayed CNS myelination, Hypoplasia of the corpus callosum, Ventriculomegaly, Primary microcephal... ORPHA:404473
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Leptin Receptor Deficiency
Diabetes mellitus, Obesity OMIM:614963
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Umbilical hernia, Inguinal hernia, Joint contracture of the hand, Hyperglyc... OMIM:175700
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index, Omphalocele OMIM:614450
Cog5-Cdg
Truncal ataxia, Cerebral white matter atrophy, Delayed myelination, Microcephaly, Diffuse cerebra... ORPHA:263487
Metachromatic Leukodystrophy, Adult Form
Leukodystrophy, Dystonia, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia,... ORPHA:309271
Rere-Related Neurodevelopmental Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, CNS demyelination, Attention deficit hyperac... ORPHA:494344
Combined Oxidative Phosphorylation Deficiency 43
Delayed CNS myelination OMIM:618851
Recombinant Chromosome 8 Syndrome
Secondary microcephaly, Ventriculomegaly, Cerebral atrophy, Delayed CNS myelination OMIM:179613
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Abnormal globus pallidus morphology, Lethargy, Delayed CNS myelination OMIM:251000
Waardenburg Syndrome, Type 4A
Leukodystrophy, Ataxia OMIM:277580
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Delayed CNS myelination, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, A... OMIM:618659
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Microcephaly, Agenesis of corpus callosum, Decreased resp... OMIM:609053
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Leukodystrophy, Tremor, Dystonia, Ataxia, Cerebral calcification, Leukoencephalopathy, Morphologi... OMIM:612199
Cockayne Syndrome Type 2
Difficulty walking, Gait disturbance, Ataxia, Patchy demyelination of subcortical white matter, S... ORPHA:90322
Trigeminal Neuralgia
Paresthesia, Allodynia, Somatic sensory dysfunction, Peripheral demyelination, CNS demyelination ORPHA:221091
Congenital Analbuminemia
Hypercholesterolemia, Lipodystrophy, Small for gestational age, Low pulse pressure, Hyperlipidemi... ORPHA:86816
Microcephaly 26, Primary, Autosomal Dominant
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Simp... OMIM:619179
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Type II diabetes mellitus, Obesity ORPHA:2234
Wiedemann-Rautenstrauch Syndrome
Leukodystrophy, Tremor, Truncal ataxia, Hydrocephalus, Action tremor, Ataxia, Polymicrogyria, Inc... ORPHA:3455
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Limb ataxia, Ventriculomegaly, Truncal ataxia, Leukodystrophy OMIM:619051
Peroxisome Biogenesis Disorder 12A (Zellweger)
Microcephaly, CNS demyelination, Cerebral atrophy, Hydrocephalus OMIM:614886
Sandestig-Stefanova Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Delayed CNS myelination, Primary microcephaly OMIM:618804
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young, Truncal obesity, Small for gestationa... ORPHA:96184
Isolated Sedoheptulokinase Deficiency
Subcortical cerebral atrophy, Ventriculomegaly, Abnormal CNS myelination ORPHA:440713
Abetalipoproteinemia
CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Niemann-Pick Disease Type C
Leukodystrophy, Tremor, Dystonia, Axial dystonia, Frontal cortical atrophy, Progressive gait atax... ORPHA:646
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Overweight, Hypoketotic hypoglycemia, Ventricular tachycardia, Atrioventricular block... ORPHA:26793
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Lipodystrophy, Ventricular escape rhythm, Achilles tendon contractur... ORPHA:98855
Succinic Semialdehyde Dehydrogenase Deficiency
Delayed CNS myelination, Ataxia, Hyperactivity OMIM:271980
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, Glycosuria, Hypertr... ORPHA:2088
Leigh Syndrome
Leukodystrophy, Focal T2 hyperintense basal ganglia lesion, Dystonia, Hypoplasia of the corpus ca... ORPHA:506
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Chorea, Ventriculomegaly, Cerebral calcificatio... ORPHA:1855
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed myelination, Hypoplasia of the corpus callosum, Severe demyelination of the white matter,... ORPHA:391408
Heart And Brain Malformation Syndrome
Aplasia/Hypoplasia of the corpus callosum, Delayed CNS myelination, Hypoplasia of the corpus call... OMIM:616920
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles OMIM:619278
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Lipodystrophy, Ventricular escape rhythm, Achilles tendon contractur... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Lipodystrophy, Ventricular escape rhythm, Achilles tendon contractur... ORPHA:98853
Secondary Syringomyelia
Sensory ataxia, Paresthesia, Difficulty walking, Somatic sensory dysfunction, Progressive cerebel... ORPHA:99857
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoketotic hypoglyc... ORPHA:71212
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Dysplastic corpus callosum, Microcephaly, Attention deficit hyperactivity d... OMIM:619103
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Thick corpus callosum... ORPHA:544488
Symptomatic Form Of Hemochromatosis Type 1
Arrhythmia, Weight loss, Congestive heart failure, Portal hypertension, Elevated jugular venous p... ORPHA:465508
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Inability to walk, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly OMIM:618651
Joubert Syndrome 32
Large for gestational age, Tall stature, Hypertrophic cardiomyopathy OMIM:617757
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Inability to walk, Impaired pain sensation, Hypoplasia of the corpus callosum, Cerebral white mat... ORPHA:261552
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Neonatal death OMIM:618810
Cerebrofacioarticular Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Dysplastic corpus callosum, Microcep... ORPHA:314679
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Abnormal cerebral white matter morphology, Ataxia, Abnormal corpus callo... ORPHA:457279
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Lipodystrophy, Ventricular escape rhythm, Achilles tendon contractur... ORPHA:98863
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Polymicrogyria, Pachygyria ORPHA:2328
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Microcephaly, Dandy-Walker malformation, Dilation of lateral ventricles ORPHA:3078
Isolated Complex I Deficiency
Leukodystrophy, Lethargy, Ataxia, Leukoencephalopathy, Microcephaly ORPHA:2609
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lewy bodies, Dilation of lateral ventricles, Neurofibrillary tangles OMIM:607485
Wieacker-Wolff Syndrome, Female-Restricted
Inability to walk, Microcephaly, Ventriculomegaly, Delayed CNS myelination OMIM:301041
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Dysdiadochokinesis, Dystonia, Delayed CNS myelination, Hypoplasia of the corpus callosum, Cerebra... OMIM:618891
Progressive Multifocal Leukoencephalopathy
Gait ataxia, Paresthesia, Somatic sensory dysfunction, Dysmetria, CNS demyelination ORPHA:217260
Megalocornea-Mental Retardation Syndrome
Cerebral cortical atrophy, Microcephaly, Delayed CNS myelination, Ataxia OMIM:249310
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcephaly, Periventricular l... ORPHA:293725
Beta-Ketothiolase Deficiency
Hypotension, Weight loss, Hypertension, Hypoglycemia, Hyperglycemia ORPHA:134
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Delayed CNS myelination, Cerebral atrophy, Communicating hydrocephalus, Ataxia OMIM:616084
Combined Oxidative Phosphorylation Deficiency 29
Microcephaly, Dystonia, Delayed CNS myelination, Subependymal cysts OMIM:616811
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Impaired glucose tolerance, Hypertension, Abdominal obesity, Obesity OMIM:219090
Chromosome 18Q Deletion Syndrome
Tremor, Delayed CNS myelination, Chorea, Abnormal cerebral white matter morphology, Ventriculomeg... OMIM:601808
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Angina pectoris, Hypertriglyceridemia, Diabetes mellitus, Obesity ORPHA:412
Mitochondrial Complex I Deficiency, Nuclear Type 1
Leukodystrophy, Lethargy, Ataxia, Leukoencephalopathy, Microcephaly, Cerebral edema OMIM:252010
Malonyl-Coa Decarboxylase Deficiency
Pachygyria, Delayed CNS myelination OMIM:248360
Sjogren-Larsson Syndrome
CNS demyelination OMIM:270200
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Metachromatic leukodystrophy variant OMIM:156310
Intellectual Disability-Strabismus Syndrome
Delayed myelination, Hypoplasia of the corpus callosum, Gait disturbance, Diffuse demyelination o... ORPHA:363528
Beta-Ureidopropionase Deficiency
Microcephaly, Dystonia, Delayed CNS myelination OMIM:613161
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Delayed CNS myelination, Enlarged sylvian cistern, Hypoplasia of the corpus callosum, Cerebral at... OMIM:615802
Congenital Disorder Of Glycosylation, Type Il
Microcephaly, Delayed CNS myelination OMIM:608776
Hermansky-Pudlak Syndrome 10
Microcephaly, Dystonia, Cerebral atrophy, Delayed CNS myelination OMIM:617050
Dermatoleukodystrophy
Leukodystrophy OMIM:221790
Aicardi-Goutières Syndrome
Leukodystrophy, Tremor, Porencephalic cyst, Dystonia, Difficulty walking, Hypoplasia of the corpu... ORPHA:51
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Hypovolemia, Contractures of the joints of the lower limbs, W... ORPHA:99885
Phelan-Mcdermid Syndrome
Abnormal periventricular white matter morphology, Delayed CNS myelination, Ventriculomegaly, Unst... OMIM:606232
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Obesity OMIM:600151
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Dandy-Walker malformation, Abnormal c... ORPHA:397715
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:618914
Fanconi Anemia, Complementation Group B
Hypoplasia of the corpus callosum, Ventriculomegaly, Hydrocephalus, Delayed CNS myelination OMIM:300514
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Cavum septum pellucidum, Difficulty walking, Hypoplasia of the corpus callosum... ORPHA:464738
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Umbilical hernia, Overgrowth, Small for gestational age, Large for gestational age ORPHA:254534
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia, Increased body we... ORPHA:264580
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
16Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly ORPHA:261250
Developmental And Epileptic Encephalopathy 95
Inability to walk, Delayed CNS myelination, Gait disturbance, Cerebral atrophy, Ataxia, Cerebral ... OMIM:618143
6Q Terminal Deletion Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Polymi... ORPHA:75857
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Choreoacanthocytosis
Head titubation, Decreased number of peripheral myelinated nerve fibers, Cerebral cortical atroph... ORPHA:2388
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Ventriculomegaly ORPHA:363444
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypoplasia of the corpus callosum, Microcephaly, Dysplastic corpus callosum OMIM:618569
Distal Monosomy 10Q
Cavum septum pellucidum, Ataxia, Unsteady gait, Microcephaly, Attention deficit hyperactivity dis... ORPHA:96148
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hypoplasia of the corpus callosum, Cerebral atrophy, Hydrocephalus, Delayed CNS myelination OMIM:618590
Waardenburg Syndrome, Type 2E
Cerebral hypomyelination OMIM:611584
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Absent septum pellucidum, Microcephaly, Agenesis of corpus callosum OMIM:309801
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Tremor, Ventriculomegaly, Ataxia, Secondary microcephaly, Microcephaly, Dilati... OMIM:619229
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Hypoplasia of the corpus callosum, Delayed CNS myelination OMIM:300232
Aicardi Syndrome
Cavum septum pellucidum, Pachygyria, Delayed CNS myelination, Choroid plexus cyst, Polymicrogyria... OMIM:304050
Canavan Disease
Opisthotonus, CNS demyelination OMIM:271900
Cerebrotendinous Xanthomatosis
Dystonia, Gait disturbance, Resting tremor, Ataxia, Hypermyelinated retinal nerve fibers, Somatic... ORPHA:909
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Aromatase Deficiency
Insulin resistance, Tall stature, Type II diabetes mellitus, Eunuchoid habitus, Hyperlipidemia, O... ORPHA:91
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Hyperinsulinemia, Type II diabetes mellitus, Obesity OMIM:619326
Triokinase And Fmn Cyclase Deficiency Syndrome
Delayed CNS myelination, Broad-based gait OMIM:618805
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Impaired glucose tolerance,... ORPHA:769
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Peripheral demyelination, Cerebral atrophy, Ataxia, Severe demyelination of the white m... ORPHA:79282
Congenital Insensitivity To Pain With Severe Intellectual Disability
Pain insensitivity, Delayed CNS myelination, Impaired tactile sensation ORPHA:453510
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Hypoglycemia, Obesity OMIM:608624
White-Sutton Syndrome
Delayed myelination, Delayed CNS myelination, Hypoplasia of the corpus callosum, Subcortical cere... ORPHA:468678
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Dysplastic corpus callosum, Polymicrogyria... OMIM:618820
Cockayne Syndrome A
Peripheral dysmyelination, Tremor, Normal pressure hydrocephalus, Gait disturbance, Cerebral atro... OMIM:216400
Immunodeficiency 23
Somatic sensory dysfunction, Abnormal CNS myelination, Ataxia OMIM:615816
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, T-wave invers... ORPHA:466677
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Microcephaly, Cerebral calcification, Delayed CNS myelination OMIM:617303
Cockayne Syndrome B
Peripheral dysmyelination, Tremor, Normal pressure hydrocephalus, Cerebral atrophy, Ataxia, Patch... OMIM:133540
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Colpocephaly, Cerebral white matter hypoplasia, Delayed myelin... ORPHA:477993
20Q13.33 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Delayed CNS myelination ORPHA:261311
9Q33.3Q34.11 Microdeletion Syndrome
Inability to walk, Microcephaly, Abnormal periventricular white matter morphology, Delayed CNS my... ORPHA:495818
Mosaic Trisomy 1
Polymicrogyria, Agenesis of corpus callosum, Dilation of lateral ventricles ORPHA:1692
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Chondrocalcinosis, Lipoatrophy, Insulin-resistant dia... ORPHA:79474
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Cerebral atrophy, Delayed CNS myelination OMIM:619036
Holoprosencephaly 13, X-Linked
Microcephaly, Septo-optic dysplasia, Colpocephaly, Agenesis of corpus callosum OMIM:301043
Lethal Ataxia With Deafness And Optic Atrophy
Spinal cord posterior columns myelin loss, Ataxia, Severe demyelination of the white matter ORPHA:1187
Thyrotoxic Periodic Paralysis
Palpitations, Postprandial hyperglycemia, Weight loss, Ventricular fibrillation, Shortened PR int... ORPHA:79102
Hurler Syndrome
Abnormal CNS myelination, Hydrocephalus OMIM:607014
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Abnormal CNS myelination OMIM:619053
Niemann-Pick Disease, Type A
Inability to walk, Athetosis, Delayed CNS myelination OMIM:257200
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Delayed CNS myelination OMIM:616728
Cockayne Syndrome