Gene Summary

Name:
aldo-keto reductase family 1, member C14
Synonyms:
9030611N15Rik

IMPC Data Collections

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.

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 50% (1 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (1 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 100% (2 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 50% (1 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 100% (2 of 2)
Jejunum N/A heterozygote 50% (1 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vagina N/A heterozygote 50% (1 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

53 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Human diseases caused by Akr1c14 mutations

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

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

The table below shows human diseases associated to Akr1c14 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
46,Xy Sex Reversal 8
OMIM:614279

The table below shows human diseases predicted to be associated to Akr1c14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... OMIM:608636
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608631
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Null Syndrome
CNS hypomyelination, Difficulty walking, Inability to walk, Peripheral demyelination, Demyelinati... ORPHA:280234
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Reduced social reciprocity OMIM:606053
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination, Ataxia ORPHA:88637
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness OMIM:618221
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:607373
Autism
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:209850
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Ataxia, Cavitating leukodystrophy OMIM:619061
Leukoencephalopathy With Vanishing White Matter 1
Emotional lability, Cerebral hypomyelination, Gait disturbance, CNS demyelination, Gliosis, Unste... OMIM:603896
Charcot-Marie-Tooth Disease, Type 4A
CNS hypomyelination, Basal lamina onion bulb formation, Distal sensory impairment, Decreased numb... OMIM:214400
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, CNS hypomyelination, Inability to walk, Aggressive behavior, Hyperactivi... OMIM:620023
Pelizaeus-Merzbacher Disease
Broad-based gait, Depression, CNS hypomyelination, Sudanophilic leukodystrophy, Inability to walk... OMIM:312080
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Gliosis, Emotional blunting, Mot... OMIM:172700
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Delayed CNS myelination, Demyelinating peripheral neuropathy, Impaired distal propriocept... OMIM:619742
Leukodystrophy, Hypomyelinating, 11
CNS hypomyelination, Leukodystrophy, Ataxia OMIM:616494
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Leukodystrophy, Childhood-Onset, Remitting
Gait disturbance, Leukodystrophy, Irritability OMIM:619864
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
CNS hypomyelination, Inability to walk, Recurrent hand flapping, Gait ataxia, Emotional lability,... OMIM:619580
Developmental And Epileptic Encephalopathy 78
Inability to walk, Chorea, CNS hypomyelination OMIM:618557
Progressive Multifocal Leukoencephalopathy
Somatic sensory dysfunction, Abnormal astrocyte morphology, Paresthesia, Gait ataxia, Dysmetria, ... ORPHA:217260
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Truncal ataxia, Limb ataxia, CNS hypomyelination, Leukodystrophy OMIM:617560
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
CNS hypomyelination, Ataxia OMIM:619688
Developmental And Epileptic Encephalopathy 58
Inability to walk, Delayed myelination, Motor stereotypy OMIM:617830
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
CNS hypomyelination, Irritability, Ataxia OMIM:615281
Leukodystrophy, Hypomyelinating, 15
CNS hypomyelination, Leukodystrophy, Loss of ambulation, Ataxia, Athetosis, Dysphagia OMIM:617951
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Bruxism, Inappropriate laughter, Chorea, Aggressive behavior, Ataxia, Motor stereotypy OMIM:619150
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
CNS hypomyelination, Leukodystrophy, Dysmetria, Loss of ambulation, Ataxia, Dysphagia OMIM:607694
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Reduced social reciprocity OMIM:618103
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, CNS hypomyelination, Somatic sensory dysfunction, Ataxia ORPHA:320401
Folinic Acid-Responsive Seizures
Broad-based gait, Difficulty walking, Chorea, Irritability, Cerebral hypomyelination, Ataxia, Del... ORPHA:79097
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Leukodystrophy, Ataxia OMIM:614561
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Cerebral hypomyelination, CNS hypomyelination, Hyperactivity ORPHA:369939
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Astrocytosis, Disinhibition, Irritability, Aggressi... ORPHA:275864
Adenylosuccinase Deficiency
CNS hypomyelination, Inability to walk, Inappropriate laughter, Gait ataxia, Self-mutilation, Agg... OMIM:103050
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Difficulty walking, CNS hypomyelination, Leukodystrophy, Ataxia ORPHA:527497
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Shuffling gait, Depression, Somatic sensory dysfunction, Gait disturbance, CNS demyelination, Gli... OMIM:221820
Giant Axonal Neuropathy
CNS hypomyelination, Falls, Difficulty walking, Distal sensory impairment, Unsteady gait ORPHA:643
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination ORPHA:85163
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Tremor-Ataxia-Central Hypomyelination Syndrome
CNS hypomyelination, Leukodystrophy, Impaired vibration sensation in the lower limbs, Positive Ro... ORPHA:447896
N-Acetylaspartate Deficiency
Broad-based gait, Self-mutilation, Truncal ataxia, Unsteady gait, Motor stereotypy OMIM:614063
Spastic Paraplegia 44, Autosomal Recessive
CNS hypomyelination, Dysmetria, Distal sensory impairment, Ataxia, Spastic gait OMIM:613206
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Dystonic gait, Cerebral hypomyelination, Gliosis, Ataxia, ... ORPHA:280210
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
CNS hypomyelination, Leukodystrophy, Gait ataxia, Dysmetria, Cerebral hypomyelination, Ataxia, Dy... OMIM:614381
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
4H Leukodystrophy
Dysmetria, Progressive gait ataxia, Cerebral hypomyelination, Ataxia, Dysphagia, Dysdiadochokinesis ORPHA:289494
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Gait disturbance, Leukodystrophy OMIM:616859
Retinal Dystrophy With Leukodystrophy
Falls, CNS hypomyelination, Dysmetria, Waddling gait OMIM:618863
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy, Reduced social reciprocity, Inability to walk OMIM:617820
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Astrocytosis, Disinhibition, Aggressive behavior, Gait disturbance, Restl... OMIM:600795
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Inability to walk, Broad-based gait, Delayed CNS myelination, CNS hypomyelination OMIM:616158
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Emotional lability, Agitation OMIM:617171
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy OMIM:617862
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Delayed CNS myelination, Hyperactivity OMIM:619031
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, CNS demyeli... OMIM:610245
Kaya-Barakat-Masson Syndrome
CNS hypomyelination, Irritability OMIM:619125
Leukodystrophy, Hypomyelinating, 22
Inability to walk, CNS hypomyelination OMIM:619328
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Obsessive-comp... ORPHA:66624
Neurodevelopmental Disorder With Language Delay And Seizures
Attention deficit hyperactivity disorder, CNS hypomyelination, Obsessive-compulsive trait OMIM:619908
Leukodystrophy, Hypomyelinating, 6
Cerebral hypomyelination, Choreoathetosis, Leukodystrophy, Ataxia OMIM:612438
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Leukodystrophy, Ataxia OMIM:619196
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Developmental And Epileptic Encephalopathy 93
Inability to walk, Gait disturbance, CNS hypomyelination OMIM:618012
Developmental And Epileptic Encephalopathy 86
CNS hypomyelination OMIM:618910
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Inability to walk, Delayed CNS myelination, CNS hypomyelination OMIM:616577
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Pseudobulbar paralysis, Difficulty walking, Dysmetria, Cerebral hypomyelination, Ataxia ORPHA:438114
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
CNS hypomyelination OMIM:620425
Foxg1 Syndrome
Difficulty walking, Bruxism, Inability to walk, Reduced social reciprocity, Stereotypical hand wr... ORPHA:561854
Hereditary Methemoglobinemia
Cerebral hypomyelination, Athetosis, Delayed myelination ORPHA:621
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Cerebral hypomyelination, Ataxia, Demyelinating motor neuropathy, Choreoathetosis OMIM:608804
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
CNS hypomyelination, Difficulty walking, Inability to walk, Irritability, Aggressive behavior, At... ORPHA:481152
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Delayed CNS myelination, Motor stereotypy, Irritability OMIM:617393
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
CNS hypomyelination, Leukodystrophy, Inability to walk, Dysmetria, Ataxia, Dysphagia OMIM:619576
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Leukodystrophy, Hypomyelinating, 5
Loss of ambulation, CNS hypomyelination, Onion bulb formation, Leukodystrophy OMIM:610532
Huppke-Brendel Syndrome
Inability to walk, CNS hypomyelination OMIM:614482
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy OMIM:616370
Developmental And Epileptic Encephalopathy 71
CNS demyelination, Gliosis OMIM:618328
Neurodegeneration With Brain Iron Accumulation 7
Leukodystrophy, Dysmetria, Loss of ambulation, Ataxia, Dysphagia OMIM:617916
Developmental And Epileptic Encephalopathy 79
CNS hypomyelination OMIM:618559
Juvenile Amyotrophic Lateral Sclerosis
CNS hypomyelination, Tip-toe gait, Difficulty walking, Inability to walk, Chorea, Ataxia, Dysphagia ORPHA:300605
Pelizaeus-Merzbacher Disease In Female Carriers
Difficulty walking, Gait disturbance, CNS hypomyelination, Inability to walk ORPHA:280229
Lissencephaly 8
Cerebral hypomyelination, Delayed early-childhood social milestone development OMIM:617255
Spinocerebellar Ataxia, Autosomal Recessive 27
Depression, Gait imbalance, Gait ataxia, Aggressive behavior, Spastic ataxia, Gait disturbance, G... OMIM:618369
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy OMIM:616763
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Delayed myelination, Motor stereotypy OMIM:613886
Leukodystrophy, Hypomyelinating, 10
Inability to walk, CNS hypomyelination, Leukodystrophy OMIM:616420
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral hypomyelination OMIM:300475
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Peripheral demyelination, Gait ataxia, Loss of ambulation, CNS demyelination, Dysphagia OMIM:249900
Pelizaeus-Merzbacher Disease, Classic Form
Difficulty walking, Dystonic gait, Cerebral hypomyelination, Ataxia, Athetosis ORPHA:280219
Developmental And Epileptic Encephalopathy 4
Cerebral hypomyelination, Delayed CNS myelination, Choreoathetosis OMIM:612164
Developmental And Epileptic Encephalopathy 5
CNS hypomyelination OMIM:613477
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Delayed CNS myelination, Ataxia OMIM:616421
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Leukoencephalopathy, Cystic, Without Megalencephaly
Abnormal CNS myelination, Athetosis, Ataxia OMIM:612951
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity OMIM:619470
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Delayed CNS myelination, CNS hypomyelination, Ataxia OMIM:619260
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Inability to walk, Chorea, Gait ataxia, Stereotypical hand wringing, Com... OMIM:618917
Combined Oxidative Phosphorylation Deficiency 24
CNS hypomyelination, Gliosis OMIM:616239
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
CNS hypomyelination OMIM:615760
Atypical Rett Syndrome
Restrictive behavior, Impaired pain sensation, Inability to walk, Bruxism, Inappropriate laughter... ORPHA:3095
Multiple Sclerosis, Susceptibility To
Depression, Paresthesia, CNS demyelination, Emotional lability OMIM:126200
11Q22.2Q22.3 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Delayed myelination, Abnormal soc... ORPHA:444002
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Depression, Leukodystrophy, Pseudobulbar paralysis, Gliosis, Ataxia, Symmetric peripheral demyeli... OMIM:169500
Intellectual Developmental Disorder, Autosomal Recessive 79
Delayed CNS myelination, Broad-based gait, Tongue thrusting, Gait ataxia OMIM:620393
Hsd10 Disease
Gait disturbance, Ataxia, Dysphagia, Choreoathetosis, Abnormal social behavior ORPHA:391417
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Peroxisome Biogenesis Disorder 11A (Zellweger)
CNS hypomyelination OMIM:614883
Pyruvate Carboxylase Deficiency
Ataxia, Abnormal temper tantrums, CNS hypomyelination, Tip-toe gait, Recurrent hand flapping, Ano... ORPHA:3008
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Inability to walk, CNS hypomyelination, Gliosis, Ataxia OMIM:617193
Developmental And Epileptic Encephalopathy 17
Inability to walk, Chorea, Delayed CNS myelination, Athetosis OMIM:615473
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Shuffling gait, Leukodystrophy, Gait ataxia, Dysmetria, Delayed CNS myelination... OMIM:617964
Ddost-Cdg
CNS hypomyelination ORPHA:300536
Alg2-Cdg
Cerebral hypomyelination ORPHA:79326
Orofaciodigital Syndrome Xvii
CNS hypomyelination OMIM:617926
Developmental And Epileptic Encephalopathy 29
Chorea, CNS hypomyelination OMIM:616339
Baker-Gordon Syndrome
Self-injurious behavior, Inability to walk, Ataxia, Motor stereotypy, Choreoathetosis OMIM:618218
Allan-Herndon-Dudley Syndrome
Leukodystrophy, Inability to walk, Irritability, Delayed CNS myelination, Ataxia, Athetosis OMIM:300523
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Leukodystrophy, Ataxia OMIM:618242
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
CNS hypomyelination, Dysmetria, Ataxia OMIM:618527
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
CNS hypomyelination OMIM:619286
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Late-Infantile/Juvenile Krabbe Disease
Neuromuscular dysphagia, Acroparesthesia, Difficulty walking, Emotional lability, Impaired tactil... ORPHA:206443
Developmental And Epileptic Encephalopathy 75
CNS hypomyelination OMIM:618437
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608049
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Multiple Mitochondrial Dysfunctions Syndrome 5
Delayed myelination, Leukodystrophy OMIM:617613
Tremor, Hereditary Essential, 6
Leukodystrophy OMIM:618866
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Falls, Irritability, Leukodystrophy, Ataxia OMIM:619224
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Gait disturbance, CNS demyelination, Disinhibition OMIM:618193
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
CNS hypomyelination, Difficulty walking, Inability to walk, Chorea, Ataxia, Truncal ataxia, Athet... OMIM:615356
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Reduced social rec... ORPHA:544254
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, At... OMIM:617695
Microcephaly-Capillary Malformation Syndrome
CNS hypomyelination, Delayed myelination OMIM:614261
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Chorea, Attention deficit hyperactivity disorder, Delayed CNS myelination, Motor tics, Ataxia, Mo... OMIM:619725
Glutamine Deficiency, Congenital
CNS hypomyelination OMIM:610015
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Reduced social reciprocity ORPHA:329249
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Childhood-Onset Spasticity With Hyperglycinemia
Leukodystrophy, Irritability, Loss of ability to walk in early childhood, Ataxia, Unsteady gait ORPHA:401866
Peroxisome Biogenesis Disorder 8B
Tip-toe gait, Leukodystrophy, Peripheral demyelination, Gait ataxia, Dysmetria, Loss of ambulatio... OMIM:614877
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Dysmetria, Delayed CNS myelination, Leukodystrophy, Ataxia OMIM:618688
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Inability to walk, Reduced social reciprocity, Attention deficit hyperactivity ... OMIM:617854
Gastrointestinal Defects And Immunodeficiency Syndrome 2
CNS hypomyelination, Leukodystrophy, Dysmetria, Ataxia, Dysphagia OMIM:619708
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Peroxisomal Acyl-Coa Oxidase Deficiency
Dysphagia, CNS demyelination, Leukodystrophy, Irritability OMIM:264470
Neuropathy, Congenital Hypomyelinating, 3
CNS hypomyelination OMIM:618186
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Abnormal CNS myelination, Difficulty walking, Broad-based gait ORPHA:477673
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Attention deficit hyperactivity disorder, Reduced social reciprocity, Ataxia ORPHA:137831
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
CNS hypomyelination OMIM:618622
Severe Intellectual Disability And Progressive Spastic Paraplegia
Difficulty walking, Motor stereotypy, Excessive shyness, Waddling gait ORPHA:280763
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Leukodystrophy, Irritability OMIM:615010
Leigh Syndrome, Nuclear
Emotional lability, CNS demyelination, Gliosis, Ataxia OMIM:256000
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Reduced social reciprocity, Aggressive behavior, Ataxia, Dysphagia OMIM:619738
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Cerebral hypomyelination, Motor stereotypy, Inability to walk ORPHA:457351
Immunodeficiency 26 With Or Without Neurologic Abnormalities
CNS hypomyelination OMIM:615966
Sandhoff Disease
Impaired temperature sensation, CNS hypomyelination, Ataxia OMIM:268800
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Intellectual Developmental Disorder, Autosomal Dominant 7
Inappropriate laughter, Stereotypical hand wringing, Gait disturbance, Hyperactivity, Ataxia, Mot... OMIM:614104
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior ORPHA:530983
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
CNS hypomyelination, Dysphagia, Self-mutilation OMIM:618922
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Combined Oxidative Phosphorylation Deficiency 11
CNS hypomyelination, Delayed myelination OMIM:614922
Xq28 (MECP2) duplication
Depression, Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy DECIPHER:45
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Limb ataxia, Gait ataxia, Dysmetria, Reduced social reciprocity, Aggressive behavior,... OMIM:615157
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Dysphagia, Emotional lability, Disinhibition OMIM:612069
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Self-mutilation, Gait disturbance, Gliosis, Motor stereotypy ORPHA:457240
Marchiafava-Bignami Disease
Depression, Abnormal emotion, Gait ataxia, Aggressive behavior, Addictive alcohol use, Gait distu... ORPHA:221074
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebral hypomyelination, Motor stereotypy, Dysphagia, Ataxia ORPHA:496641
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Difficulty walking, Gait ataxia, Delayed CNS myelination, Motor stereotypy OMIM:617807
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Chorea, Ataxia, Motor stereotypy, Choreoathetosis OMIM:619317
Rett Syndrome, Congenital Variant
Bruxism, Chorea, Reduced social reciprocity, Irritability, Motor stereotypy, Tongue thrusting, At... OMIM:613454
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Delayed CNS myelination, Motor stereotypy OMIM:619877
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Cerebral hypomyelination, Athetosis, Delayed myelination, Irritability ORPHA:79351
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Inability to walk, Bruxism, Chorea, Delayed CNS myelination, Motor stere... OMIM:618004
Leukodystrophy, Hypomyelinating, 12
Cerebral hypomyelination, Delayed myelination OMIM:616683
Childhood Disintegrative Disorder
Abnormal emotion, Motor stereotypy, Reduced social reciprocity ORPHA:168782
Christianson Syndrome
Inappropriate laughter, Gait ataxia, Dysphagia, Truncal ataxia, Motor stereotypy ORPHA:85278
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Paroxysmal bursts o... ORPHA:228402
Combined Oxidative Phosphorylation Deficiency 53
CNS hypomyelination OMIM:619423
Dpagt1-Cdg
CNS hypomyelination, Head-banging, Inability to walk, Stereotypical body rocking, Akinesia, Aggre... ORPHA:86309
S-Adenosylhomocysteine Hydrolase Deficiency
CNS hypomyelination, Delayed myelination ORPHA:88618
Sandhoff Disease, Infantile Form
CNS hypomyelination ORPHA:309155
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Lopes-Maciel-Rodan Syndrome
Bruxism, Dysphagia, Unsteady gait, Motor stereotypy, Agitation OMIM:617435
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Leukodystrophy OMIM:618006
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
CNS hypomyelination, Irritability, Cerebral hypomyelination, Delayed CNS myelination, Dysphagia OMIM:618367
Mitochondrial Complex I Deficiency, Nuclear Type 15
CNS demyelination, Irritability OMIM:618237
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Leukodystrophy, Gait ataxia, Emotional lability, Progressive gait ataxia, Abnormal ... ORPHA:309256
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Aggressive behavior, Attention deficit hyperactivity disorder, Delayed CNS myelinatio... OMIM:620242
Shukla-Vernon Syndrome
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy... OMIM:301029
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy OMIM:619690
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Cerebral hypomyelination OMIM:612949
Spinocerebellar Ataxia 21
Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Delayed CNS myelination, Ataxia, Impulsi... OMIM:607454
Intellectual Developmental Disorder, Autosomal Recessive 6
Reduced social reciprocity OMIM:611092
Combined Saposin Deficiency
CNS demyelination OMIM:611721
Peroxisome Biogenesis Disorder 6B
Impaired vibratory sensation, Leukodystrophy, Limb ataxia, Gait ataxia, Distal sensory impairment... OMIM:614871
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Reduced s... ORPHA:449291
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Cerebral hypomyelination, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:447997
Leukodystrophy, Hypomyelinating, 9
Ataxia, Dysmetria, Leukodystrophy, Pseudobulbar paralysis OMIM:616140
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Gait ataxia, Overfriendliness, Delayed CNS myelination, Motor stereotypy OMIM:616579
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Leukodystrophy OMIM:614932
L-2-Hydroxyglutaric Aciduria
Severe demyelination of the white matter, Gliosis, Ataxia OMIM:236792
Trigeminal Neuralgia
Depression, Somatic sensory dysfunction, Peripheral demyelination, Paresthesia, CNS demyelination ORPHA:221091
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, CNS hypomyelination, Stereotypical hand wringing, Aggressive behavior, Gait dis... ORPHA:268261
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dysphagia, Irritability, Leukodystrophy, Ataxia OMIM:618226
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Inability to walk, Delayed CNS myelination, CNS demyelination, Choreoathetosis OMIM:619653
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Gait ataxia, Motor stereotypy, Impaired tactile sensation OMIM:619092
Secondary Syringomyelia
Somatic sensory dysfunction, Pseudobulbar paralysis, Difficulty walking, Paresthesia, CNS demyeli... ORPHA:99857
Hyperphosphatasia-Intellectual Disability Syndrome
Cerebral hypomyelination, Gait disturbance, Ataxia ORPHA:247262
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Self-injurious behavior, Delayed CNS myelination, Agitation OMIM:618339
Marbach-Rustad Progeroid Syndrome
CNS hypomyelination OMIM:619322
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination, Ataxia OMIM:200100
Leukodystrophy, Hypomyelinating, 13
Delayed CNS myelination, Irritability, Leukodystrophy, Ataxia OMIM:616881
Schilder Disease
CNS demyelination, Ataxia ORPHA:59298
Autism Spectrum Disorder Due To Auts2 Deficiency
Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity, Compulsi... ORPHA:352490
Mitochondrial Complex I Deficiency, Nuclear Type 4
Leukodystrophy, Ataxia OMIM:618225
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Abnormal CNS myelination ORPHA:521390
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Depression, Hostility, Inability to walk, Bruxism, Chorea, Repetitive compuls... OMIM:300260
Neurodegeneration With Brain Iron Accumulation 2A
Unsteady gait, Gliosis, Reduced social reciprocity, Ataxia OMIM:256600
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivit... OMIM:300352
Gaba-Transaminase Deficiency
Leukodystrophy OMIM:613163
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Obsessive-compulsive trait, Aggressive behavior, Attention deficit hyperactiv... OMIM:618825
Myoclonic-Astatic Epilepsy
Abnormal emotion, Reduced social reciprocity, Attention deficit hyperactivity disorder, Hyperacti... ORPHA:1942
Hengel-Maroofian-Schols Syndrome
Abnormal CNS myelination, Gait imbalance, Inability to walk OMIM:619641
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Delayed CNS myelination, Motor stereotypy, Ataxia OMIM:619428
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Abnormal CNS myelination OMIM:611555
Adult Krabbe Disease
Broad-based gait, Acroparesthesia, Somatic sensory dysfunction, Peripheral demyelination, Impaire... ORPHA:206448
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Abnormal social behavior, Agitation, Disinhibition ORPHA:1020
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Fucosidosis
Spastic gait, CNS hypomyelination OMIM:230000
Metachromatic Leukodystrophy, Adult Form
Depression, Leukodystrophy, Difficulty walking, Chorea, Emotional lability, Progressive gait atax... ORPHA:309271
Waardenburg Syndrome, Type 4A
Leukodystrophy, Ataxia OMIM:277580
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Pain insensitivity, Stereotypical hand wringing, Skin-picking, Aggressiv... OMIM:600430
Pyruvate Carboxylase Deficiency
Athetosis, Leukodystrophy OMIM:266150
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Progressive gait ataxia, Emotional lability, Leukodystrophy ORPHA:309263
Chromosome 8Q21.11 Deletion Syndrome
CNS hypomyelination OMIM:614230
Potocki-Lupski Syndrome
Delayed myelination, Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia OMIM:610883
Leukodystrophy, Hypomyelinating, 4
Choreoathetosis, Leukodystrophy OMIM:612233
Smith-Magenis Syndrome
Pain insensitivity, Head-banging, Impaired pain sensation, Onychotillomania, Self-mutilation, Hyp... OMIM:182290
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperact... OMIM:300986
Aicardi-Goutieres Syndrome 5
Leukodystrophy, Irritability OMIM:612952
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Stereotypical body rocking, Gait ataxia, Cerebral hypomyelination, Repetitive c... ORPHA:513456
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Scissor gait, Spastic g... OMIM:619121
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Obsessive-compulsive trait, Low frustration tolerance, Aggressive behavior, Ga... ORPHA:168491
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Motor s... OMIM:617600
2,4-Dienoyl-Coa Reductase Deficiency
Delayed CNS myelination, Choreoathetosis, Leukodystrophy, Ataxia OMIM:616034
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Bruxism, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor ster... OMIM:618342
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Emotional lability, Loss of ambulation, Dysphagia, Motor stereotypy ORPHA:79264
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Chorea, Inappropriate behavior ORPHA:309246
X-Linked Cerebral Adrenoleukodystrophy
Difficulty walking, Inability to walk, Dysmetria, Diffuse demyelination of the cerebral white mat... ORPHA:139396
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Reduced social reciprocity... OMIM:300912
Hijazi-Reis Syndrome
Gait disturbance, Motor stereotypy OMIM:301094
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
CNS hypomyelination OMIM:619306
Houge-Janssens Syndrome 3
Self-injurious behavior, Attention deficit hyperactivity disorder, Delayed CNS myelination, Motor... OMIM:618354
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:620292
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Motor stereotypy OMIM:613443
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Emotional lability, Agitation, Ataxia ORPHA:927
Dermatoleukodystrophy
Leukodystrophy OMIM:221790
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Bruxism, Reduced social reciprocity, Aggressive behavi... OMIM:606232
Galloway-Mowat Syndrome 6
Paroxysmal bursts of laughter, Motor stereotypy OMIM:618347
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
CNS hypomyelination OMIM:614501
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Irritability, Delayed CNS myelination, Hyperactivity, Pica, Motor ste... OMIM:617796
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Motor stereotypy ORPHA:411986
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Motor stereotypy OMIM:618430
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Truncal ataxia, Limb ataxia, Leukodystrophy OMIM:619051
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Aggressive behavior, Reduced social reciprocity OMIM:616083
Frontal Encephalocele
Leukodystrophy ORPHA:1931
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Broad-based gait, Motor stereotypy OMIM:616351
Cerebrooculofacioskeletal Syndrome 1
Delayed myelination, CNS demyelination, Gliosis OMIM:214150
Multiple Mitochondrial Dysfunctions Syndrome 3
Leukodystrophy, Irritability OMIM:615330
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Depression, Motor stereotypy, Ataxia ORPHA:10
Ritscher-Schinzel Syndrome 4
Chorea, Aggressive behavior, Dysphagia, Ataxia, Athetosis, Motor stereotypy, Impulsivity OMIM:619435
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste... ORPHA:313892
Rett Syndrome
Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Gait disturbance, Mo... ORPHA:778
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Unsteady gait, Broad-based gait OMIM:618205
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Motor stereotypy OMIM:618067
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Delayed CNS myelination, Leukodystrophy OMIM:620269
Cri-Du-Chat Syndrome
Difficulty walking, Oppositional defiant disorder, Self-mutilation, Overfriendliness, Aggressive ... OMIM:123450
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Irritability ORPHA:391307
Pontocerebellar Hypoplasia, Type 8
Gait ataxia, Chorea, Dysphagia, Reduced social reciprocity OMIM:614961
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Restlessness, Agitation ORPHA:100924
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Low frustration tolerance, Self-mutilation, Hyperactivity, Motor stereotypy OMIM:300486
White-Sutton Syndrome
Self-injurious behavior, Overfriendliness, Irritability, Aggressive behavior, Delayed CNS myelina... OMIM:616364
Young-Onset Parkinson Disease
Depression, Gait imbalance, Restless legs, Agitation, Reduced social reciprocity, Impulsivity ORPHA:2828
Niemann-Pick Disease Type C
Depression, Abnormal CNS myelination, Leukodystrophy, Chorea, Low frustration tolerance, Disinhib... ORPHA:646
Inverted Duplicated Chromosome 15 Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Self-biting ORPHA:3306
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617808
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Reduced social reciprocity OMIM:617051
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
Chromosome 15Q11.2 Deletion Syndrome
Reduced social reciprocity, Attention deficit hyperactivity disorder, Ataxia, Compulsive behavior... OMIM:615656
Wagro Syndrome
Emotional lability, Low frustration tolerance, Reduced social reciprocity, Polyphagia, Aggressive... OMIM:612469
Alg11-Cdg
Delayed myelination, Reduced social reciprocity, Ataxia ORPHA:280071
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia ORPHA:208447
Leukodystrophy, Hypomyelinating, 3
Leukodystrophy, Sudanophilic leukodystrophy OMIM:260600
Radio-Tartaglia Syndrome
Gait imbalance, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Ataxia,... OMIM:619312
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
Alazami Syndrome
Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing ORPHA:319671
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Gait ataxia, CNS demyelination, Gliosis, Ataxia OMIM:620451
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity... OMIM:617061
Leukodystrophy, Hypomyelinating, 24
Leukodystrophy OMIM:619851
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Inappropriate laughter, Delayed CNS myelination, Motor stereotypy OMIM:615802
Blepharophimosis-Impaired Intellectual Development Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Low frustration tolerance, Overfriend... OMIM:619293
X-Linked Intellectual Disability, Van Esch Type
Attention deficit hyperactivity disorder, Reduced social reciprocity ORPHA:163976
Waardenburg Syndrome, Type 2E
Cerebral hypomyelination OMIM:611584
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Motor stereotypy, Dysphagia OMIM:617802
Aicardi-Goutieres Syndrome 4
Leukodystrophy OMIM:610333
Coffin-Siris Syndrome 7
Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity OMIM:618027
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Reduced social... OMIM:156200
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Chorea, Self-mutilation, Repetitive compulsive behavior, Self-biting, Ataxia, Delayed myelination... ORPHA:522077
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Choreoathetosis, Reduced social recip... ORPHA:261197
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Nonprogressive cerebellar ataxia, Choreoathetosis, Leukodystrophy ORPHA:431361
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Leukodystrophy, Ataxia OMIM:614299
Rere-Related Neurodevelopmental Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, CNS demyelination ORPHA:494344
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Emotional lability, Reduced social reciprocity, Spastic ataxia, Motor stereoty... ORPHA:300570
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy OMIM:616393
Krabbe Disease
Peripheral demyelination, CNS demyelination OMIM:245200
Sjogren-Larsson Syndrome
CNS demyelination OMIM:270200
Smith-Magenis Syndrome
Self-injurious behavior, Impaired pain sensation, Attention deficit hyperactivity disorder, Gait ... ORPHA:819
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Low frustration tolerance, Aggressive behavior, Ataxia, Unsteady gait, ... ORPHA:457279
4Q21 Microdeletion Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:238750
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618504
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive or violent behavior, Abn... ORPHA:96263
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Hyperactivity OMIM:617751
Acute Disseminated Encephalomyelitis
Somatic sensory dysfunction, Irritability, Aggressive behavior, CNS demyelination, Ataxia ORPHA:83597
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Leukodystrophy, Delayed CNS myelination, Ataxia, Dysphagia, Choreoathetosis OMIM:615471
Wiedemann-Rautenstrauch Syndrome
Truncal ataxia, CNS hypomyelination, Leukodystrophy, Ataxia ORPHA:3455
Cystinosis
Polydipsia, Gait disturbance, Motor stereotypy ORPHA:213
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Aggressive behavior, Unsteady gait, Nonprogressive cerebellar ataxia, Abnormal... ORPHA:314647
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Motor stereotypy, Compulsive behaviors OMIM:613174
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Emotional lability, Low frustration tolerance, Reduced social reciprocity, Aggressive behavior, H... OMIM:309520
Fg Syndrome Type 1
Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behavior, Broad-b... ORPHA:93932
Joubert Syndrome 6
Motor stereotypy, Ataxia OMIM:610688
White-Sutton Syndrome
Self-injurious behavior, Aggressive behavior, Delayed CNS myelination, Hyperactivity, Compulsive ... ORPHA:468678
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Comp... ORPHA:476126
Beck-Fahrner Syndrome
Attention deficit hyperactivity disorder, Depression, Reduced social reciprocity OMIM:618798
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:397612
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Depression, Motor stereotypy ORPHA:98784
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Leukodystrophy, Peripheral demyelination, Emotional lability, Ataxia, Tics, Mot... OMIM:619475
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Abnormal CNS myelination OMIM:619053
Multiple Sulfatase Deficiency
Peripheral demyelination, CNS demyelination, Ataxia OMIM:272200
Aicardi-Goutieres Syndrome 1
Inability to walk, CNS demyelination, Self-mutilation OMIM:225750
Immunodeficiency 23
Abnormal CNS myelination, Somatic sensory dysfunction, Ataxia OMIM:615816
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia ORPHA:435638
Xeroderma Pigmentosum, Complementation Group B
Abnormal CNS myelination, Ataxia OMIM:610651
Combined Oxidative Phosphorylation Deficiency 59
Attention deficit hyperactivity disorder, CNS demyelination OMIM:620646
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy ORPHA:500159
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Leukodystrophy, Frequent temper tantrums, Attention defici... OMIM:619575
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Reduced social reciprocity ORPHA:254531
Alg8-Cdg
Leukodystrophy, Ataxia ORPHA:79325
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Reduced social reciprocity, Skin-picking, Attention defic... ORPHA:177907
22Q11.2 Duplication Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:1727
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Self-mutilation, Attention deficit hyperactivity disorder, Delayed CNS m... OMIM:619005
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Reduced social reciprocity ORPHA:8
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Cerebrotendinous Xanthomatosis
Depression, Somatic sensory dysfunction, Aggressive behavior, Attention deficit hyperactivity dis... ORPHA:909
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Dysphagia ORPHA:572013
Developmental And Epileptic Encephalopathy 100
Chorea, Gait ataxia, Delayed CNS myelination, Dysphagia, Motor stereotypy, Choreoathetosis OMIM:619777
Leigh Syndrome
Leukodystrophy, Chorea, Gliosis, Ataxia, Athetosis, Dysphagia, Choreoathetosis ORPHA:506
Den Hoed-De Boer-Voisin Syndrome
Inability to walk, Stereotypical hand wringing, Dysphagia, Ataxia, Motor stereotypy, Agitation OMIM:619229
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Attention deficit hyperactivity disorder, Frequent temper tantrums, Head-banging, Motor stereotypy OMIM:619103
Congenital Disorder Of Glycosylation, Type Iia
Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Unsteady gait, Motor stereotypy OMIM:212066
Lead Poisoning
Depression, Somatic sensory dysfunction, Reduced social reciprocity, Attention deficit hyperactiv... ORPHA:330015
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Combined Oxidative Phosphorylation Deficiency 4
Leukodystrophy OMIM:610678
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Aggressive behavior, Attention deficit hyperactivity disorde... ORPHA:805
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Ataxia ORPHA:2479
Leukodystrophy, Progressive, Early Childhood-Onset
Leukodystrophy OMIM:617762
Orofaciodigital Syndrome Xiv
CNS hypomyelination OMIM:615948
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Dysmetria, Reduced social reciprocity, Aggressive behavior, Polyphagia, ... ORPHA:96121
Hemophagocytic Lymphohistiocytosis, Familial, 2
CNS demyelination, Irritability, Ataxia OMIM:603553
Canavan Disease
CNS demyelination OMIM:271900
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsiv... OMIM:620494
Hydroxykynureninuria
Motor stereotypy ORPHA:79155
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Pain insensitivity, Broad-based gait, Fixated interests, Emotional labil... OMIM:620330
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... ORPHA:488618
Niemann-Pick Disease, Type C2
Motor stereotypy, Dysphagia, Ataxia OMIM:607625
Developmental And Epileptic Encephalopathy 2
Inability to walk, Motor stereotypy OMIM:300672
2Q37 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:1001
Kleefstra Syndrome 1
Compulsive behaviors, Aggressive behavior, Motor stereotypy OMIM:610253
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, ... ORPHA:1675
Bainbridge-Ropers Syndrome
Self-injurious behavior, Motor stereotypy, Recurrent hand flapping, Inability to walk OMIM:615485
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Abnormal CNS myelination, Abnormal myelination, Gliosis, Inability to walk OMIM:620371
Rauch-Steindl Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619695
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy ORPHA:261144
Helsmoortel-Van Der Aa Syndrome
Bruxism, Reduced social reciprocity, Irritability, Polyphagia, Attention deficit hyperactivity di... OMIM:615873
Isolated Sedoheptulokinase Deficiency
Abnormal CNS myelination ORPHA:440713
Pitt-Hopkins Syndrome
Self-injurious behavior, Gait ataxia, Motor stereotypy OMIM:610954
Biliary, Renal, Neurologic, And Skeletal Syndrome
CNS hypomyelination OMIM:619534
Hypotonia, Ataxia, And Delayed Development Syndrome
Pain insensitivity, Broad-based gait, Gait ataxia, Dysmetria, Dysphagia, Ataxia, Truncal ataxia, ... OMIM:617330
Hyperglycinemia, Lactic Acidosis, And Seizures
Leukodystrophy OMIM:614462
Acute Transverse Myelitis
Impaired vibratory sensation, Somatic sensory dysfunction, Dissociated sensory loss, Paresthesia,... ORPHA:139417
Combined Oxidative Phosphorylation Defect Type 23
Leukodystrophy ORPHA:444013
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Frequent temper tantrums, Delayed CNS myelination, Hyperactivity, Compul... OMIM:619512
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Delayed CNS myelination, Motor stereotypy OMIM:618653
De Sanctis-Cacchione Syndrome
Scissor gait, Choreoathetosis, Leukodystrophy, Ataxia OMIM:278800
Bickerstaff Brainstem Encephalitis
Dysesthesia, Acute demyelinating polyneuropathy, CNS demyelination, Ataxia, Sensory ataxia, Impai... ORPHA:79138
Kleefstra Syndrome
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Self-mutilation ORPHA:261494
Peroxisome Biogenesis Disorder 12A (Zellweger)
CNS demyelination OMIM:614886
Glycogen Storage Disease Ii
Abnormal CNS myelination, Difficulty walking OMIM:232300
Congenital Disorder Of Deglycosylation 2
Dysphagia, Reduced social reciprocity OMIM:619775
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Isolated Complex I Deficiency
Leukodystrophy, Ataxia ORPHA:2609
Hurler Syndrome
Abnormal CNS myelination OMIM:607014
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Leukodystrophy ORPHA:370997
Trichothiodystrophy
Gait ataxia, Reduced social reciprocity, Cerebral dysmyelination ORPHA:33364
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Gait ataxia, Dysmetria, Aggressive behavior, Attention deficit hyperactivity di... OMIM:614756
Van Esch-O'Driscoll Syndrome