Gene Summary

Name:
guanine nucleotide binding protein, alpha O
Synonyms:
Galphao,  Go alpha,  alphaO

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating triglyceride level Gnao1tm1b(EUCOMM)Hmgu HET Early adult 9.40×10-10
hyperactivity Gnao1tm1b(EUCOMM)Hmgu HET   Early adult 1.33×10-06
increased circulating creatinine level Gnao1tm1b(EUCOMM)Hmgu HET   Early adult 4.53×10-05
decreased circulating serum albumin level Gnao1tm1b(EUCOMM)Hmgu HET Early adult 3.88×10-05
abnormal bone structure Gnao1tm1b(EUCOMM)Hmgu HET Early adult 1.04×10-06
decreased bone mineral content Gnao1tm1b(EUCOMM)Hmgu HET Early adult 2.58×10-07
preweaning lethality, complete penetrance Gnao1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased eosinophil cell number Gnao1tm1b(EUCOMM)Hmgu HET Early adult 1.35×10-05
increased blood urea nitrogen level Gnao1tm1b(EUCOMM)Hmgu HET Early adult 2.59×10-05
decreased fasting circulating glucose level Gnao1tm1b(EUCOMM)Hmgu HET Early adult 6.36×10-12
increased circulating amylase level Gnao1tm1b(EUCOMM)Hmgu HET Early adult 5.31×10-09
decreased respiratory quotient Gnao1tm1b(EUCOMM)Hmgu HET   Early adult 1.79×10-07
decreased anxiety-related response Gnao1tm1b(EUCOMM)Hmgu HET   Early adult 4.02×10-05
decreased red blood cell distribution width Gnao1tm1b(EUCOMM)Hmgu HET Early adult 5.88×10-05
impaired righting response Gnao1tm1b(EUCOMM)Hmgu HET Early adult 4.47×10-06
decreased erythrocyte cell number Gnao1tm1b(EUCOMM)Hmgu HET   Early adult 2.03×10-05
decreased circulating iron level Gnao1tm1b(EUCOMM)Hmgu HET   Early adult 7.92×10-05
increased mean corpuscular hemoglobin Gnao1tm1b(EUCOMM)Hmgu HET   Early adult 1.13×10-05

Download data as:  TSV  XLS

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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  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 50% (1 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

21 Images

MicroCT E18.5

Embryo reconstruction

3 Images

Echo

M-Mode Images

24 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

MicroCT E14.5-E15.5

Embryo reconstruction

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Immunophenotyping

Panel B FCS file(s)

9 Images

Immunophenotyping

Panel A FCS file(s)

9 Images

Human diseases caused by Gnao1 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 Gnao1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Involuntary Movements
Chorea, Spasticity, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Involuntary... OMIM:617493
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:1934
Developmental And Epileptic Encephalopathy 17
Chorea, Athetosis, Dystonia OMIM:615473

The table below shows human diseases predicted to be associated to Gnao1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myoclonic Epilepsy, Progressive
Generalized myoclonic seizure OMIM:310370
Myoclonic Epilepsy, Hartung Type
Generalized myoclonic seizure OMIM:159600
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a... OMIM:616461
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... OMIM:616685
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604233
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen... OMIM:617924
Intellectual Developmental Disorder, X-Linked 89
Generalized myoclonic seizure OMIM:300848
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
Epilepsy, Familial Temporal Lobe, 3
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal impaired awareness seizure OMIM:611630
Spinocerebellar Ataxia Type 4
Motor deterioration, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired proprioceptio... ORPHA:98765
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto... OMIM:254770
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613863
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:616172
Epilepsy, Familial Temporal Lobe, 4
Focal sensory seizure with visual features, Focal aware seizure, Focal impaired awareness seizure OMIM:611631
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Jaw pain, Deficit in phonologic short-term memory, Emotional lability, Atte... ORPHA:280397
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... OMIM:600512
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... OMIM:300088
Basal Ganglia Calcification, Idiopathic, 4
Bipolar affective disorder, Attention deficit hyperactivity disorder, Dementia, Depression OMIM:615007
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic seizure, Atypical absence seizure, Myoclonic absence seizure OMIM:618596
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized non-motor (ab... OMIM:618482
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon... ORPHA:1941
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Status ... ORPHA:307
Developmental And Epileptic Encephalopathy 19
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Status epilepti... OMIM:615744
Severe Primary Trimethylaminuria
Aggressive behavior, Fish odor, Anxiety, Emotional lability, Low self esteem, Depression, Negativ... ORPHA:468726
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Sta... OMIM:615369
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Dravet Syndrome
Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure... OMIM:607208
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awareness seizure, Visually-i... OMIM:614417
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... OMIM:618357
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Aggressive behavior, Attention deficit hyperactivity disorder, Inability to walk OMIM:620038
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... OMIM:620115
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... ORPHA:411593
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Atonic seizure, ... OMIM:616056
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic... OMIM:618396
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... ORPHA:306
Developmental And Epileptic Encephalopathy 57
Seizure, Generalized myoclonic seizure, Tonic seizure, Epileptic spasm, Atypical absence seizure OMIM:617771
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Focal ... OMIM:617831
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... OMIM:607682
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Developmental And Epileptic Encephalopathy 24
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... OMIM:615871
Chorea, Benign Hereditary
Chorea, Gait disturbance, Dementia, Anxiety OMIM:118700
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Prolonged neonatal jaundice, Decr... OMIM:262400
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys... OMIM:616053
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:101039
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... OMIM:614561
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... OMIM:615697
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Atonic seizure, Genera... OMIM:616421
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... ORPHA:79084
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity ORPHA:401840
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Continuous Spikes And Waves During Sleep
Typical absence seizure, Seizure, Focal motor seizure, Focal-onset seizure, Focal aware seizure, ... ORPHA:725
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Maternal diabetes, Neonatal hyp... ORPHA:324575
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactiv... ORPHA:276608
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis OMIM:158580
Developmental And Epileptic Encephalopathy 13
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... OMIM:614558
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... ORPHA:276580
Epilepsy, Progressive Myoclonic, 12
Anxiety, Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking, Depress... OMIM:619191
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Short Stature Due To Ghsr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314811
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609253
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Myoclonus, Generalized myoclonic-atonic seizure, Bilateral... OMIM:618587
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... ORPHA:276575
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:79137
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... OMIM:617350
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
RCAD (renal cysts and diabetes)
Diabetes mellitus, Abnormality of the liver DECIPHER:47
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Type II diabetes mellitus, Osteoporosis, Increased LDL cholesterol co... OMIM:610947
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor ORPHA:85292
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Myoclonus, Generalized myoclonic seizure, Bilater... ORPHA:2382
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia OMIM:608898
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait OMIM:616921
Lissencephaly 10
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... OMIM:618873
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Infantile spasms, Atypical abs... OMIM:617113
Developmental And Epileptic Encephalopathy 67
Generalized myoclonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic se... OMIM:618141
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal aware seizure, Bilateral ton... OMIM:608096
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Hyperactivity, Delayed speech and language development, Large for gestational age, Br... ORPHA:356996
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal-onset seizure, Focal sensory seizure, Generalized-onset seizure, Infantile spasms OMIM:602066
Schizophrenia 15
Hyperactivity OMIM:613950
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor OMIM:617018
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure OMIM:254800
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Impaired vibration sensation in the lower limbs, Ataxia, Pain insensitivity, Hypercholesterolemia... ORPHA:94124
Hydroxylysinuria
Generalized myoclonic seizure OMIM:236900
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:607616
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Ataxia, Babinski sign OMIM:611105
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ... OMIM:262700
Glycogen Storage Disease Vi
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemophagocytosis, Thr... OMIM:603552
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Distal sensory impairment, Ataxia, Hypercholesterolemia OMIM:607250
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Atonic seizure, Generali... OMIM:614018
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine concentration, Pancy... OMIM:617872
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor, Involuntary movements OMIM:611092
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Epileptic spasm OMIM:616409
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure OMIM:613886
Episodic Ataxia, Type 5
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Myoclonus... OMIM:613855
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Dystonia 23
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbance, Head tremor, Axial dystonia OMIM:614860
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... ORPHA:139431
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Hypoxemia, Reticulocytosis, Persistence of hem... ORPHA:232
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... ORPHA:71526
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Hypertriglyceridemia, Increased VLDL cholesterol c... OMIM:267700
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia OMIM:600116
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... OMIM:601764
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Aggressive behavior, Overfriendliness OMIM:618010
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Myoclonus, Focal impaired awareness seizure, Bilatera... OMIM:615400
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Hypertriglyceridemia, Dystonia OMIM:615924
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Myo... ORPHA:86909
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor, Difficulty walking ORPHA:423296
Carnosinemia
Generalized myoclonic seizure OMIM:212200
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Pyknoachondrogenesis
Stillbirth OMIM:265880
Spinocerebellar Ataxia 14
Gait ataxia, Dysmetria, Attention deficit hyperactivity disorder, Depression, Mental deterioratio... OMIM:605361
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety OMIM:619031
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Type II diabetes mellitus, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corp... OMIM:616860
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc... OMIM:262190
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia OMIM:234500
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-... OMIM:619157
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Focal-o... ORPHA:36387
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Gait disturbance, Resting tremor OMIM:616710
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Developmental And Epileptic Encephalopathy 99
Focal-onset seizure, Eyelid myoclonus, Status epilepticus, Focal hemiclonic seizure, Tonic seizur... OMIM:619606
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Irritability, Inability to walk OMIM:616657
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... ORPHA:280356
Huntington Disease-Like 1
Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety, Unsteady gait, Restlessness OMIM:603218
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom... OMIM:619868
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hy... ORPHA:276556
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Tremor, Hereditary Essential, 4
Action tremor, Postural tremor OMIM:614782
Hyperlysinemia, Type I
Hyperlysinemia, Anemia, Hyperlysinuria, Hyperactivity OMIM:238700
Dystonia 16
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait... ORPHA:210571
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Pancytopenia, Increased circulating ferritin concentra... OMIM:616050
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... OMIM:226990
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly OMIM:619175
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Parkinson Disease 17
Resting tremor, Parkinsonism, Rigidity, Akinesia, Tremor, Bradykinesia OMIM:614203
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... ORPHA:99657
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism OMIM:307500
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hemolytic anemia, Normochromic anemia OMIM:245900
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Chorea, Impaired distal vibration sensation, Truncal ataxia, Distal sensory impairme... OMIM:208920
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Polyphagia, Hyper... OMIM:620085
Glucocorticoid Deficiency 2
Increased circulating ACTH level, Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:607398
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Insulin resistance OMIM:617885
Refractory Celiac Disease
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... ORPHA:398063
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... ORPHA:314978
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... ORPHA:98762
Spinocerebellar Ataxia Type 37
Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturbance, Tremor, Cogwheel rigidity... ORPHA:363710
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Seizure, Focal motor seizure, Status epilepticus, Generalized non-motor (absen... OMIM:617665
Landau-Kleffner Syndrome
Generalized clonic seizure, Seizure, Focal motor seizure, Non-convulsive status epilepticus witho... ORPHA:98818
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations ORPHA:309169
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Increased circulating ferritin concentration, Hemophagocytosis, Throm... OMIM:613101
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, I... OMIM:246700
Insulinoma
Hyperhidrosis, Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cel... ORPHA:97279
Mahvash Disease
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus ORPHA:86814
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen... OMIM:613845
Corticobasal Syndrome
Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, G... ORPHA:454887
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Focal-onset seizure, Myoclonus, Status epilepticus without prominent motor sym... OMIM:619317
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Diabetes mellitus, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Hypoalbuminemia ORPHA:88643
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Tremor, Seizure OMIM:615127
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly, Hypoalbumi... OMIM:209950
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor OMIM:616187
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Myoclonic Epilepsy, Familial Infantile
Gait ataxia, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset ... OMIM:605021
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... OMIM:128230
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, A... ORPHA:552
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait OMIM:615768
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure OMIM:612621
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady gait OMIM:617917
Eosinophilic Gastroenteritis
Anemia, Steatorrhea, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... ORPHA:2070
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Glucose... OMIM:615363
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Hypertriglyceridemia, Pancytopenia, Hepatosplenome... OMIM:603553
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly,... ORPHA:507
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating ferritin ... ORPHA:158061
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Generalized myoclonic seizure ORPHA:79156
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Increased LDL cholesterol concentration, Decreased... OMIM:615703
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Broad-based gait, Spastic paraparesis, Dysmetria, Unsteady gait,... ORPHA:423275
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Frequent falls, Dystonia, Cardiomyopathy OMIM:619647
Adiposis Dolorosa
Arthralgia, Chronic pain, Depression, Anxiety, Fatigue OMIM:103200
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... OMIM:308240
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Neonatal hypoglycemia, Increased hepatic glyco... ORPHA:293964
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Postural tremor, Choreoathetosis, Ataxia, Elevated circulating creat... ORPHA:64753
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... OMIM:206200
Developmental And Epileptic Encephalopathy 18
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... OMIM:615476
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Delayed speech and language development, Hyperactivity, Abnormal social behavior ORPHA:436151
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Papular Xanthoma
Histiocytosis, Hyperlipidemia ORPHA:158008
Glycogen Storage Disease Ixa1
Hyperuricemia, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly OMIM:306000
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Increased circulating creatine kinase MM isoform, Hypoalbuminemia OMIM:613752
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Citrullinemia Type Ii
Hypercholesterolemia, Hyperactivity, Aggressive behavior, Hypertriglyceridemia, Acute hyperammone... ORPHA:247585
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa... OMIM:617284
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M... ORPHA:99886
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Typical absence seizure, Seizure, Eyelid myoclonus, Myoclonus, Generalized myoclo... ORPHA:2590
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly OMIM:619013
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Recurrent singultus, Impulsivity, Irritability, Restlessness OMIM:605899
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevat... ORPHA:231111
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification ORPHA:3319
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Fasciculations OMIM:615048
Cyanide-Induced Parkinsonism-Dystonia
Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Falls, Short stepped shuffling gait, Brad... ORPHA:306692
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Focal impaired a... OMIM:607745
Neutral Lipid Storage Disease With Myopathy
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis ORPHA:228169
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... ORPHA:101046
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor, Death in childhood, Dystonia, Cardiomyopathy OMIM:619651
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... ORPHA:158057
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:619000
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, B... OMIM:620145
Fraxe Intellectual Disability
Hyperactivity, Delayed speech and language development, Recurrent hand flapping, Clumsiness, Agit... ORPHA:100973
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Paroxysmal dystonia, Writer's cramp, Myoclonus, Hand tremor, Bilateral tonic... OMIM:608105
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Cirrhosis, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, He... OMIM:604367
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612926
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Focal motor seizure, Status epilepticus, Tonic seizure, Bilateral ton... OMIM:617711
Urocanase Deficiency
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait OMIM:276880
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Hypogonadism OMIM:616113
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hyperprolinemia, Type I
Prolinuria, Hyperactivity, Aggressive behavior, Hydroxyprolinuria, Ataxia, Hyperprolinemia, Hyper... OMIM:239500
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612924
Pandas
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Arthralgia, Im... ORPHA:66624
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, U... ORPHA:216873
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... ORPHA:79262
Congenital Enterovirus Infection
Leukopenia, Anemia, Abnormal macrophage morphology, Irritability, Hyperammonemia, Leukocytosis, T... ORPHA:292
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, Hy... OMIM:300635
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Unsteady gait, Intention tremor OMIM:302500
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Seizure, Generalized myoclonic seizure, Atonic seizure, Bilateral tonic-... ORPHA:101070
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Diabetes mellitus, Hypercholesterolemia, Hypocalcemia, Hy... OMIM:612526
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Loss of ambulation, ... ORPHA:521406
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612925
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Anemia, Neutropenia, Hyperuricemia OMIM:617056
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hypoalbuminemia OMIM:618805
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Irritability, Abnormal hemoglobin, Spl... ORPHA:848
Spinocerebellar Ataxia Type 28
Gait ataxia, Spasticity, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia, Babinski sign, Head ... ORPHA:101109
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Delayed speech and language development, Recurrent hand flapping, Poor coordinatio... OMIM:309548
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms... OMIM:619616
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor OMIM:607458
Nephrotic Syndrome, Type 14
Ataxia, Lymphopenia, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Bilateral Generalized Polymicrogyria
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... ORPHA:208447
Dravet Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Epilep... ORPHA:33069
Migraine, Familial Hemiplegic, 1
Seizure, Hemiparesis, Ataxia, Hemiplegia, Tremor OMIM:141500
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Abnormal pyramidal sign, Shuffling gait, Limb hypertonia, Parkinsonism, Rigidity, Los... OMIM:615528
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:274150
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:235400
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Hyperphenylalaninemia, Bh4-Deficient, D