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Gene: Gnao1 MGI:95775

Gene Summary

Name:

guanine nucleotide binding protein, alpha O

Synonyms:

Galphao, Go alpha, alphaO

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating creatinine level	Gnao1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.48×10^-05
abnormal bone structure	Gnao1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.04×10^-06
decreased fasting circulating glucose level	Gnao1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.36×10^-12
increased circulating amylase level	Gnao1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.26×10^-09
decreased respiratory quotient	Gnao1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.79×10^-07
hyperactivity	Gnao1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.33×10^-06
decreased red blood cell distribution width	Gnao1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.88×10^-05
decreased bone mineral content	Gnao1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.58×10^-07
decreased eosinophil cell number	Gnao1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.35×10^-05
impaired righting response	Gnao1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.47×10^-06
decreased anxiety-related response	Gnao1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.02×10^-05
preweaning lethality, complete penetrance	Gnao1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased blood urea nitrogen level	Gnao1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.53×10^-05
decreased circulating iron level	Gnao1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	9.07×10^-05
decreased circulating serum albumin level	Gnao1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.85×10^-05
increased circulating triglyceride level	Gnao1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	9.40×10^-10
increased mean corpuscular hemoglobin	Gnao1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.13×10^-05
decreased erythrocyte cell number	Gnao1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.03×10^-05

Download data as: TSV XLS

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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	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
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%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
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	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

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 Whole Body Lateral Orientation

11 Images

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Adult LacZ

LacZ Images Wholemount

21 Images

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Echo

M-Mode Images

24 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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MicroCT E18.5

Embryo reconstruction

3 Images

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Immunophenotyping

Panel A FCS file(s)

9 Images

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Immunophenotyping

Panel B FCS file(s)

9 Images

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Auditory Brain Stem Response

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

4 Images

View 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.

Human diseases associated with Gnao1 (3 diseases)
Human diseases predicted to be associated with Gnao1 (1292 diseases)

The table below shows human diseases associated to Gnao1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Developmental And Epileptic Encephalopathy 17	Inability to walk, Chorea, Focal tonic seizure, Athetosis, Generalized tonic seizure	OMIM:615473
Neurodevelopmental Disorder With Involuntary Movements	Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Athetosis, Hyper...	OMIM:617493
Early Infantile Epileptic Encephalopathy	Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Focal-onset seizure...	ORPHA:1934

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

Disease	Matching phenotypes	Source
Myoclonic Epilepsy, Hartung Type	Generalized myoclonic seizure	OMIM:159600
Intellectual Developmental Disorder, X-Linked 89	Generalized myoclonic seizure	OMIM:300848
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
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, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, 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	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Epilepsy, Familial Temporal Lobe, 8	Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se...	OMIM:616461
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
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	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	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	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Familial Alzheimer-Like Prion Disease	Deficit in phonologic short-term memory, Depression, Jaw pain, Cognitive impairment, Attention de...	ORPHA:280397
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura	OMIM:611630
Spinocerebellar Ataxia Type 4	Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d...	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
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder, Depression	OMIM:613003
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Epilepsy, Familial Temporal Lobe, 4	Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features	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
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, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Generalized Epilepsy With Febrile Seizures Plus, Type 10	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab...	OMIM:618482
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi...	OMIM:300088
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
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, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s...	OMIM:609446
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Ataxia-Oculomotor Apraxia Type 1	Ataxia, Gait disturbance	ORPHA:1168
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Juvenile Myoclonic Epilepsy	Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s...	ORPHA:307
Epilepsy, Idiopathic Generalized, Susceptibility To, 16	Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure	OMIM:618596
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Developmental And Epileptic Encephalopathy 19	Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai...	OMIM:615744
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
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a...	OMIM:615369
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Dravet Syndrome	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in...	OMIM:607208
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa...	OMIM:614417
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ...	OMIM:620115
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu...	OMIM:617831
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Developmental And Epileptic Encephalopathy 24	Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen...	OMIM:615871
Female Restricted Epilepsy With Intellectual Disability	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-...	ORPHA:101039
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty	ORPHA:314802
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617080
Developmental And Epileptic Encephalopathy 57	Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure	OMIM:617771
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,...	OMIM:607682
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:300388
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:600176
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Chorea, Benign Hereditary	Chorea, Dementia, Gait disturbance	OMIM:118700
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Schizophrenia 15	Hyperactivity	OMIM:613950
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:619491
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Reduced circulating gr...	OMIM:262400
Continuous Spikes And Waves During Sleep	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se...	ORPHA:725
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic...	OMIM:616346
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:611364
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Epilepsy, Familial Temporal Lobe, 6	Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept...	OMIM:615697
Hyperinsulinism-Hyperammonemia Syndrome	Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia	ORPHA:35878
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Myoclonic-Atonic Epilepsy	Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure,...	OMIM:616421
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia	ORPHA:401840
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea...	ORPHA:79084
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin...	ORPHA:276608
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab...	ORPHA:324575
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Lennox-Gastaut Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General...	ORPHA:2382
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Lissencephaly 10	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:618873
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,...	ORPHA:276580
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:121210
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609253
Spinocerebellar Ataxia 37	Tremor, Unsteady gait, Frequent falls, Ataxia	OMIM:615945
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Short Stature Due To Ghsr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty	ORPHA:314811
Developmental And Epileptic Encephalopathy 43	Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At...	OMIM:617113
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton...	OMIM:618587
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure	OMIM:616409
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	ORPHA:79137
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene...	OMIM:617350
X-Linked Spinocerebellar Ataxia Type 4	Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking	ORPHA:85292
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me...	ORPHA:276575
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
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus	DECIPHER:47
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Increased LDL cholesterol concent...	OMIM:610947
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Generalized non-motor (absence) seizure	ORPHA:370943
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Obesity And Hypopigmentation	Hepatic steatosis, Hyperinsulinemia	OMIM:620195
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Large for gestational age, Aggressive behavior, Bruxism, Spasticity	ORPHA:356996
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Encopresis, Depression, Irritability, Arth...	ORPHA:66624
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Focal-onset seizure, Generalized-onset seizure, Focal sensory seizure, Infantile spasms	OMIM:602066
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Jeavons Syndrome	Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua...	ORPHA:139431
Myoclonic Epilepsy Of Unverricht And Lundborg	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus	OMIM:254800
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608631
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia	ORPHA:329249
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen...	ORPHA:86909
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Dystonia	OMIM:615924
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l...	ORPHA:94124
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Epilepsy, Progressive Myoclonic, 12	Ataxia, Dysmetria, Depression, Difficulty walking, Attention deficit hyperactivity disorder, Ment...	OMIM:619191
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Hydroxylysinuria	Generalized myoclonic seizure	OMIM:236900
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha...	OMIM:603552
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren...	OMIM:262700
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia	OMIM:232700
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Distal sensory impairment, ...	OMIM:607250
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta...	OMIM:614018
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea n...	OMIM:617872
Episodic Ataxia, Type 5	Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb...	OMIM:613855
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ...	OMIM:608636
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m...	ORPHA:36387
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo...	OMIM:619157
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os...	ORPHA:232
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Aggressive behavior, Overfriendliness	OMIM:618010
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Cataracts, Spastic Paraparesis, And Speech Delay	Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:619338
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinemia, Hyperlysinuria, Anemia	OMIM:238700
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Inability to walk, Irritability, Hyperactivity	OMIM:616657
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure	OMIM:611092
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Hartnup Disorder	Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Spinocerebellar Ataxia Type 38	Tremor, Difficulty walking, Gait ataxia	ORPHA:423296
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet...	ORPHA:79644
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo...	OMIM:614418
Epilepsy, Familial Adult Myoclonic, 5	Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur...	OMIM:615400
Carnosinemia	Generalized myoclonic seizure	OMIM:212200
Landau-Kleffner Syndrome	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize...	ORPHA:98818
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Immunodeficiency 27A	Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia...	OMIM:209950
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis	OMIM:261650
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge...	OMIM:620085
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:607373
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno...	OMIM:616860
Developmental And Epileptic Encephalopathy 56	Generalized non-motor (absence) seizure, Focal motor seizure, Myoclonic seizure, Seizure, Status ...	OMIM:617665
Stxbp1-Related Encephalopathy	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo...	ORPHA:599373
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic...	OMIM:262190
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Developmental And Epileptic Encephalopathy 99	Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl...	OMIM:619606
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Anemia, Leukopenia, Hypoalb...	ORPHA:507
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus...	ORPHA:280356
Diarrhea 13	Recurrent hypoglycemia, Hypoalbuminemia	OMIM:620357
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp...	ORPHA:276556
Glycosylphosphatidylinositol Biosynthesis Defect 1	Atonic seizure, Generalized non-motor (absence) seizure	OMIM:610293
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:210571
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia	OMIM:619175
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:307500
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit...	OMIM:616050
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia	OMIM:245900
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia	OMIM:607398
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Impaired di...	OMIM:208920
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T...	ORPHA:314978
Intellectual Developmental Disorder, Autosomal Dominant 5	Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure	OMIM:612621
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Fatigue, Gait disturbance, Anorexia	ORPHA:79283
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Obesity, Hyperphagia, And Developmental Delay	Seizure, Generalized non-motor (absence) seizure	OMIM:613886
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia...	ORPHA:363710
Intellectual Developmental Disorder With Seizures And Language Delay	Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure	OMIM:619000
Benign Adult Familial Myoclonic Epilepsy	Focal-onset seizure, Generalized-onset seizure, Myoclonus	ORPHA:86814
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Seizures, Benign Familial Infantile, 1	Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic...	OMIM:601764
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen...	OMIM:619326
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype...	OMIM:613845
Mahvash Disease	Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel...	OMIM:619290
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia	OMIM:616033
Myoclonic Epilepsy, Familial Infantile	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G...	OMIM:605021
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Aggressive behavior, Chorea, Poor coordination, Bruxism, Inappropriate laughter, Dystonia...	OMIM:619150
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls	OMIM:619647
Epilepsy, Progressive Myoclonic 7	Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus	OMIM:616187
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or...	ORPHA:454887
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Craniosynostosis	ORPHA:88643
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i...	ORPHA:552
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, H...	ORPHA:2070
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o...	OMIM:619317
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Developmental And Epileptic Encephalopathy 18	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-...	OMIM:615476
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Dystonia, Ataxia, Elevated circulating creatine kinase concentration...	ORPHA:64753
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ...	OMIM:615703
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Generalized non-motor (absence) seizure	OMIM:618992
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Death in childhood, Cardiomyopathy, Myoclonus, Dystonia	OMIM:619651
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit...	ORPHA:247585
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Generalized myoclonic seizure	ORPHA:79156
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,...	ORPHA:423275
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr...	OMIM:603553
Arthrogryposis, Impaired Intellectual Development, And Seizures	Generalized non-motor (absence) seizure, Focal motor seizure	OMIM:615553
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:609016
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Recurrent singultus	OMIM:605899
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia	OMIM:613752
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre...	ORPHA:293964
Chylomicron Retention Disease	Impaired vibratory sensation, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrh...	OMIM:246700
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia	ORPHA:369873
Developmental And Epileptic Encephalopathy 109	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,...	OMIM:620145
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Typical abs...	ORPHA:2590
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration...	OMIM:620366
Atypical Pantothenate Kinase-Associated Neurodegeneration	Violent behavior, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, D...	ORPHA:216873
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxy...	OMIM:239500
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking	OMIM:615048
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure	ORPHA:46532
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia	OMIM:619013
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia	OMIM:620270
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl...	ORPHA:306692
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se...	OMIM:617711
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ...	OMIM:604367
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Neutral Lipid Storage Disease With Myopathy	Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:610717
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Autosomal Dominant Striatal Neurodegeneration	Bradykinesia, Dysdiadochokinesis, Gait disturbance	ORPHA:228169
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Adiposis Dolorosa	Fatigue, Arthralgia, Chronic pain, Depression	OMIM:103200
Bilateral Frontoparietal Polymicrogyria	Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Generali...	ORPHA:101070
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ...	OMIM:604326
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Migraine, Familial Hemiplegic, 1	Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia	OMIM:141500
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circulating ferritin...	OMIM:300635
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Spinocerebellar Ataxia, X-Linked 1	Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor	OMIM:302500
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Dravet Syndrome	Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,...	ORPHA:33069
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi...	ORPHA:521406
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hy...	OMIM:612526
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Irrit...	ORPHA:292
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Microcytic anemia	OMIM:618805
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens...	ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs...	OMIM:619616
Rolandic Epilepsy	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei...	ORPHA:1945
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,...	ORPHA:208447
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r...	OMIM:617270
Reni Syndrome	Hypertriglyceridemia, Ataxia, Hypoglycemia, Hypoalbuminemia, Lymphopenia	OMIM:617575
Succinic Semialdehyde Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Status epilepti...	OMIM:271980
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Developmental Delay And Seizures With Or Without Movement Abnormalities	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure	OMIM:617836
Tremor, Hereditary Essential, 2	Kinetic tremor, Upper limb postural tremor	OMIM:602134
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Intellectual Developmental Disorder With Autism And Speech Delay	Abnormal repetitive mannerisms, Impaired social interactions	OMIM:606053
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Hypoalbuminemia, Paroxysmal bursts of laughter	OMIM:618347
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ...	OMIM:615362
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi...	OMIM:274150
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor	OMIM:601068
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Lipoid Proteinosis Of Urbach And Wiethe	Seizure, Generalized non-motor (absence) seizure	OMIM:247100
Paroxysmal Exertion-Induced Dyskinesia	Seizure, Generalized non-motor (absence) seizure	ORPHA:98811
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Involuntary movements, Aggressive behavior	OMIM:617171
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ...	OMIM:615558
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Immunodeficiency 43	Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi...	OMIM:241600
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells	OMIM:620282
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors	OMIM:301107
Preeclampsia	Type I diabetes mellitus, Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Insulin resistance, Hyperinsulinemia, Gait a...	ORPHA:363400
Hereditary Geniospasm	Abnormal social behavior, Chin myoclonus, Intention tremor	ORPHA:53372
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoa...	OMIM:616267
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia	OMIM:608104
Aceruloplasminemia	Torticollis, Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin conc...	OMIM:604290
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d...	OMIM:300423
Developmental And Epileptic Encephalopathy 32	Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3...	OMIM:616366
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Hypercalcemia, Craniosynostosis, Increased blood urea nitrogen, Episodic hemo...	ORPHA:251004
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat...	ORPHA:251282
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Glycosuria, Pancreatic islet-cell hyperplasia, Fas...	ORPHA:263455
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Ataxia	OMIM:613402
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Involuntary movements, Self-injurious behavior, Impaired social interactions, Dystonia, Spasticit...	OMIM:617820
Developmental And Epileptic Encephalopathy 42	Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei...	OMIM:617106
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hypertriglyceridemia	OMIM:614480
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:613608
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Anorexia	ORPHA:2494
Developmental And Epileptic Encephalopathy 97	Tremor, Seizure, Epileptic spasm	OMIM:619561
Seizures, Benign Familial Infantile, 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a...	OMIM:607745
Glycosylphosphatidylinositol Biosynthesis Defect 15	Atonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myocloni...	OMIM:617810
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Intellectual Developmental Disorder, Autosomal Recessive 47	Focal impaired awareness seizure	OMIM:616193
Wolcott-Rallison Syndrome	Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi...	ORPHA:1667
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis	ORPHA:75563
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ...	OMIM:619854
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro...	OMIM:612736
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Speech apraxia, Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavi...	OMIM:613670
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Progressive cereb...	ORPHA:248111
Developmental And Epileptic Encephalopathy 103	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus, General...	OMIM:619913
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:791
N-Acetylaspartate Deficiency	Decreased body weight, Abnormal repetitive mannerisms, Self-mutilation, Truncal ataxia	OMIM:614063
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Dysphagia, Thr...	OMIM:254900
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:436182
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration, Ataxia	ORPHA:79320
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal...	ORPHA:540
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Methemoglobinemia, Beta Type	Cyanosis, Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis, Methemoglobinemia	OMIM:617973
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder	OMIM:618709
Wilson Disease	Limb dystonia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia,...	OMIM:277900
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Seizure, Focal im...	ORPHA:330050
Lipase Deficiency, Combined	Hypertriglyceridemia, Type II diabetes mellitus	OMIM:246650
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased...	OMIM:618620
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Interstitial Nephritis, Karyomegalic	Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms	OMIM:617862
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki...	OMIM:300908
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Congestive heart failure, Chorea, Dilated cardiomyopathy, ...	OMIM:606703
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to...	OMIM:616710
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Upper motor n...	ORPHA:276435
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst...	ORPHA:397946
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S...	OMIM:224120
Pyridoxine-Dependent Epilepsy	Early onset absence seizures, Epileptic spasm, Focal-onset seizure, Seizure, Status epilepticus, ...	ORPHA:3006
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Hypoglycemia	OMIM:615158
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Seizure, Ataxia, Cardiac arrest	OMIM:618951
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab...	OMIM:609425
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:3085
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h...	OMIM:615516
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B...	ORPHA:240094
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:600363
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu...	ORPHA:2298
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia,...	OMIM:618093
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia	OMIM:177000
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Intellectual Developmental Disorder, Autosomal Dominant 39	Focal impaired awareness seizure, Generalized non-motor (absence) seizure	OMIM:616521
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Hepatoportal Sclerosis	Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A...	ORPHA:64743
Atypical Rett Syndrome	Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Tongue th...	ORPHA:3095
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Hypoalbuminemia	OMIM:614441
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Infantile spasms, Generalized non-motor (absence) seizure, Focal impaired awareness seizure, Myoc...	ORPHA:411986
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Impaired pain sensation, Self hugging, Head-banging, Onychot...	OMIM:182290
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:616281
Primary Intestinal Lymphangiectasia	Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia...	ORPHA:90362
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:615637
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Reticulocytosis, Impaired vibratory sensatio...	ORPHA:14
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Hypertonia, Hyperkinetic mo...	OMIM:619738
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia...	OMIM:612716
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia	OMIM:605909
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,...	OMIM:201400
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior	OMIM:619470
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Abnormali...	ORPHA:382
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Mepan Syndrome	Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Gait disturbance, Myoclonus, Limb dystoni...	ORPHA:508093
Clcn4-Related X-Linked Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ...	ORPHA:485350
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Thrombo...	ORPHA:158048
Mitochondrial Complex I Deficiency, Nuclear Type 21	Generalized non-motor (absence) seizure	OMIM:618242
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial...	ORPHA:71517
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Osteoporosis, Hepatosplenomegaly, Irritability, Hypoalbuminemia, Dystonia, Self...	OMIM:619487
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231226
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Perlman Syndrome	Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia	ORPHA:2849
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Self-mutilation, Inappropriate laughter, Aggressive behavior	OMIM:616269
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Exercise intolerance, Fatigue, Ataxia, Gait ataxia, Depression, Dysphagia	OMIM:613077
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Foxg1 Syndrome	Bruxism, Choreoathetosis, Hyperkinetic movements, Myoclonus, Impaired social interactions, Dyston...	ORPHA:561854
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity	OMIM:300983
Cholesteryl Ester Storage Disease	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition...	OMIM:600795
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	OMIM:604250
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus	OMIM:619028
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly	ORPHA:79237
Hjv Or Hamp-Related Hemochromatosis	Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,...	ORPHA:79230
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst...	OMIM:619911
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Hemochromatosis, Type 4	Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev...	OMIM:606069
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Hsd10 Disease	Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Myoclonus, Spastic paraparesis, Abnormal so...	ORPHA:391417
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr...	ORPHA:98764
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Babin...	OMIM:615157
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Cln5 Disease	Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot...	ORPHA:228360
Lipodystrophy, Familial Partial, Type 4	Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia	OMIM:613877
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Nephronophthisis-Like Nephropathy 2	Polydipsia, Elevated circulating creatinine concentration	OMIM:619468
Fanconi Renotubular Syndrome 3	Glycosuria, Aminoaciduria, Elevated circulating creatinine concentration, Rickets	OMIM:615605
Donohue Syndrome	Precocious puberty, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperp...	OMIM:246200
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Choreoathetosis, Self-injurious behavior, Hyperkinetic movements, ...	OMIM:618218
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation	OMIM:617916
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci...	OMIM:300539
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia	ORPHA:446
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Dysphagia, Depression, Anemia, Decreased serum zinc, Hypoalbuminemia, Decre...	ORPHA:89842
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized ami...	OMIM:251880
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, S...	ORPHA:79240
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia	OMIM:608600
Hemochromatosis, Type 2B	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr...	OMIM:613313
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance	ORPHA:101075
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mine...	OMIM:277700
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Myoclonic-Astatic Epilepsy	Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Simple febrile seizure, F...	ORPHA:1942
Diffuse Alveolar Hemorrhage	Leukocytosis, Elevated circulating creatinine concentration, Hypoxemia, Anemia, Thrombocytopenia	ORPHA:90060
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Spasticity, Abnormal repetitive manneris...	OMIM:618718
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def...	OMIM:261600
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Increased LDL cholesterol conce...	OMIM:277460
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia	ORPHA:306669
Optic Atrophy 5	Abnormality of pattern visual evoked potentials	OMIM:610708
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu...	OMIM:602124
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, A...	ORPHA:275864
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Tremor, Hypocystinemia	OMIM:617744
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Status epilepticus, Spasticity, Intent...	OMIM:614307
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s...	OMIM:615962
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Osteomalacia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Attention deficit hyperactivity disorder	OMIM:617028
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait	OMIM:618387
Iron Overload, Susceptibility To	Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati...	OMIM:620121
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Chorea, Abnormal pyrami...	ORPHA:500180
Fanconi-Bickel Syndrome	Osteopenia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Rickets, General...	ORPHA:2088
Lopes-Maciel-Rodan Syndrome	Tremor, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia, Ankle clonus, Hypertonia, Agit...	OMIM:617435
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hyperactivity, Spastic tetraparesis, Aggressive behavior, Impulsivity, Cryptorchidism, Hemiparesi...	OMIM:604317
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Impaired proprioception, Steatorrhea, Hypocholesterolemia	ORPHA:71
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine conc...	ORPHA:470
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int...	OMIM:610185
Mpi-Cdg	Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ...	OMIM:603358
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
Intellectual Developmental Disorder, Autosomal Dominant 45	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal...	OMIM:617600
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia	ORPHA:411515
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen	ORPHA:94059
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Bone cyst, Hyperinsulinemia, Hyperch...	ORPHA:528
Cyanosis, Transient Neonatal	Reticulocytosis, Cyanosis, Methemoglobinemia, Anemia	OMIM:613977
Familial Renal Glucosuria	Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm...	ORPHA:69076
Glycogen Storage Disease Ixc	Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat...	ORPHA:300373
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance	ORPHA:101078
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cryptorchidism, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, Spa...	OMIM:618917
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ...	ORPHA:264580
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of...	ORPHA:231222
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu...	ORPHA:420492
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Abscess, Elevated circulating creatinine conc...	ORPHA:36234
Mal De Débarquement	Fatigue, Unsteady gait, Confusion, Gait imbalance	ORPHA:210272
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo...	ORPHA:37042
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei...	OMIM:618170
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Ataxia, Tremor, Dysmetria, Hypoalbuminemia, Steatorrhea, Thrombocytosis, Hypocholeste...	OMIM:212065
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Neutropenia, Thrombocytopenia	OMIM:617303
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera...	OMIM:612016
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy...	OMIM:242150
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia	OMIM:617093
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia	ORPHA:67
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign...	ORPHA:52368
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Autoimmune thr...	ORPHA:77293
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Hypertonia, Abnormal repetitive mannerisms, Spastic tetraplegia	OMIM:615282
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ...	ORPHA:64280
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Genetic Steroid-Resistant Nephrotic Syndrome	Irritability, Hypoalbuminemia	ORPHA:656
Intellectual Developmental Disorder, X-Linked 30	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300558
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se...	OMIM:619835
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Tremor, Distal sensory...	ORPHA:90117
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Restlessness, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para...	OMIM:300055
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Hand tremor, Distal sensory impairment, Hyperglycemia, Mildly elevated creatine k...	OMIM:604484
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo...	OMIM:618877
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Hypoglycemia, Elevated circulating creatine kinase concentration, H...	ORPHA:99826
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve...	OMIM:202200
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl...	ORPHA:79263
Severe Intellectual Disability And Progressive Spastic Paraplegia	Shyness, Overweight, Babinski sign, Spastic dysarthria, Dystonia, Spasticity, Abnormal repetitive...	ORPHA:280763
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia	OMIM:619724
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Incoordination, Ataxia, Dystonia, Dysmetria, Gait ataxia, Hemiparesis, Bradykinesia, Undetectable...	OMIM:601338
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Orthostatic Hypotension 1	Hypomagnesemia, Neonatal hypoglycemia, Increased blood urea nitrogen	OMIM:223360
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hypoglycemia, Hyperlipidemia, Osteoporosis, Irritability	ORPHA:369
Autosomal Recessive Spastic Paraplegia Type 44	Abnormality of visual evoked potentials, Lower limb spasticity, Ataxia, Difficulty walking	ORPHA:320401
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin con...	ORPHA:100924
Acute Interstitial Pneumonia	Cyanosis, Elevated circulating C-reactive protein concentration, Elevated circulating creatinine ...	ORPHA:79126
Liver Failure, Infantile, Transient	Irritability, Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Dysphagia, Choreoathetosis, Br...	OMIM:261640
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin resistance, Ins...	ORPHA:79083
Spinocerebellar Ataxia Type 1	Abnormal flash visual evoked potentials, Postural tremor, Chorea, Slurred speech, Dysmetria, Brad...	ORPHA:98755
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Steatorrhea	OMIM:602579
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Osteoporosis	OMIM:615381
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni...	OMIM:614736
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:619428
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic gait	OMIM:616795
Lafora Disease	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	ORPHA:501
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegal...	OMIM:613327
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Argininosuccinic aciduria, Hyperargininemia, Elevated plasm...	OMIM:603471
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g...	OMIM:617013
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen...	ORPHA:300298
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis	ORPHA:329284
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Sneddon Syndrome	Tremor, Chorea, Hemiparesis, Seizure, Intracranial hemorrhage, Hypertension	ORPHA:820
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbuminemia, Dysphagia, A...	ORPHA:85443
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperprot...	ORPHA:29073
Nicolaides-Baraitser Syndrome	Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure	ORPHA:3051
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc...	ORPHA:90041
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Syngap1-Related Developmental And Epileptic Encephalopathy	Generalized-onset seizure, Myoclonic absence seizure, Eating-induced seizure	ORPHA:544254
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking	ORPHA:477673
Liang-Wang Syndrome	Status epilepticus, Generalized non-motor (absence) seizure	OMIM:618729
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Alg12-Cdg	Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia, B lymphocytopenia, Abnormal bone ossificat...	ORPHA:79324
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re...	ORPHA:2457
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonism, Action tremor, Im...	OMIM:300623
Aceruloplasminemia	Refractory anemia, Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circ...	ORPHA:48818
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Tubulinopathy-Associated Dysgyria	Startle-induced seizure, Generalized non-motor (absence) seizure, Infantile spasms	ORPHA:467166
Behr Syndrome	Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity...	OMIM:210000
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Incoordination, Ataxia, Small for gestational age, Failure to thrive in infancy, I...	OMIM:614104
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia,...	OMIM:619055
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Spinocerebellar Ataxia, Autosomal Recessive 30	Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Muscular Dystrophy, Congenital, With Or Without Seizures	Focal-onset seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure, Myocloni...	OMIM:620166
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ...	OMIM:231100
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi...	ORPHA:95619
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Ab...	ORPHA:760
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Emotional lability, Acrocyanosis, Elevated circulating creatinine concentration, Increased blood ...	OMIM:223900
Senior-Loken Syndrome 1	Polydipsia, Elevated circulating creatinine concentration, Anemia	OMIM:266900
Blue Diaper Syndrome	Decreased circulating T4 concentration, Recurrent hypoglycemia, Elevated circulating thyroid-stim...	ORPHA:94086
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Cerebral palsy, Small for gestational age, Cryptorchidism, Repetitive compulsive b...	ORPHA:352490
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,...	OMIM:612164
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Dysto...	ORPHA:542310
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Ataxia, Somatic ...	ORPHA:167
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Satb2-Associated Syndrome Due To A Pathogenic Variant	Seizure, Typical absence seizure	ORPHA:576283
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Tip-toe gait, Gait di...	OMIM:302800
Propionic Acidemia	Hepatomegaly, Hypoglycemia	ORPHA:35
Developmental And Epileptic Encephalopathy 110	Generalized non-motor (absence) seizure, Focal impaired awareness hemiclonic seizure	OMIM:620149
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized-onset seizure, Tremor, Tongue fasciculations, Myoclonus, Generalized myoclonic seizur...	OMIM:159950
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Pontocerebellar Hypoplasia, Type 11	Ataxia, Poor coordination, Limb ataxia, Self-injurious behavior, Attention deficit hyperactivity ...	OMIM:617695
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young	OMIM:616222
Seckel Syndrome 10	Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired glucose tolerance, Ins...	OMIM:617253
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Anorexia, Elevated circulating C-reactive protein concentration, Elevated circ...	ORPHA:49041
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia	OMIM:612126
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Paraparesis, Ataxia, Gait disturbance	ORPHA:99014
Usmani-Riazuddin Syndrome, Autosomal Dominant	Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors	OMIM:619467
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Dystonia, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decr...	OMIM:618278
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi...	ORPHA:79086
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior	OMIM:620023
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Pancytopenia, Hypoglycemia, Rickets, Reduced bone mineral density, Anemia, Hypoalbumi...	OMIM:613658
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure, Eyelid myoclonus	OMIM:613839
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Neuronal Intranuclear Inclusion Disease	Ataxia, Tremor, Rigidity, Seizure, Syncope	OMIM:603472
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Seizure, Dystonia, Limb hypert...	ORPHA:70594
11Q22.2Q22.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal social behavior, Obesity, Compulsive behaviors	ORPHA:444002
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Late Infantile Neuronal Ceroid Lipofuscinosis	Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, Focal tonic seizure...	ORPHA:168491
Periventricular Nodular Heterotopia 7	Seizure, Generalized non-motor (absence) seizure, Infantile spasms	OMIM:617201
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hyperactivity, Ataxia, Elevated circulating creatine kinase c...	OMIM:615673
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hypoglycemia	ORPHA:664
Developmental And Epileptic Encephalopathy 17	Inability to walk, Chorea, Focal tonic seizure, Athetosis, Generalized tonic seizure	OMIM:615473
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren...	ORPHA:199296
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Aicardi-Goutieres Syndrome 6	Tremor, Loss of ambulation, Rigidity, Dystonia	OMIM:615010
Lipe-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Elevated circulati...	ORPHA:435660
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia	OMIM:261750
Christianson Syndrome	Cachexia, Truncal ataxia, Dysphagia, Gait ataxia, Inappropriate laughter, Dystonia, Abnormal repe...	ORPHA:85278
Crigler-Najjar Syndrome Type 1	Tremor, Seizure	ORPHA:79234
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Self-mutilation, Elevated circulating creatinine concentration, Hyperuricemia, Dystonia	ORPHA:79233
Cockayne Syndrome Type 1	Tremor, Ataxia, Anemia, Increased blood urea nitrogen	ORPHA:90321
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms	OMIM:612069
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin conce...	ORPHA:79277
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys...	ORPHA:254881
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Diabetes mellitus, Perianal abscess, Hyperlipidemia, Depression, Hepatosple...	ORPHA:444490
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil...	OMIM:607483
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia,...	ORPHA:71212
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Ataxia, Inability to walk, Unsteady gait, Abnormality of pattern visual evoked potentials, Spasti...	ORPHA:1947
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Death in early adulthood, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Seizure, Dys...	OMIM:607694
Glycogen Storage Disease Iii	Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:232400
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,...	ORPHA:101
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Hypertonia, Agitation, Myoclonus, Disinhibition, Apraxia, Oculomotor apraxi...	ORPHA:1020
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors...	OMIM:128100
Lissencephaly Due To Lis1 Mutation	Infantile spasms, Focal motor seizure, Seizure, Focal impaired awareness seizure, Atypical absenc...	ORPHA:95232
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Spinocerebellar Ataxia 2	Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Unsteady gait, Dysmetria, Limb at...	OMIM:183090
Smith-Magenis Syndrome	Hypertriglyceridemia, Impaired pain sensation, Self-injurious behavior, Attention deficit hyperac...	ORPHA:819
Familial Partial Lipodystrophy, Dunnigan Type	Diabetes mellitus, Splenomegaly, Insulin resistance, Hypertriglyceridemia	ORPHA:2348
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis...	OMIM:616113
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Hyperprolinemia Type 2	Early onset absence seizures, Generalized-onset seizure, Seizure, Status epilepticus, Febrile sei...	ORPHA:79101
Neutral Lipid Storage Disease With Ichthyosis	Abnormal granulocyte morphology, Hypertriglyceridemia, Ataxia, Abnormal circulating creatine kina...	ORPHA:98907
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia	ORPHA:6
Akt2-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia	ORPHA:79085
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Abnormal repetiti...	OMIM:619092
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Harel-Yoon Syndrome	Generalized non-motor (absence) seizure	OMIM:617183
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Irritability, Glycosuria, Postprandial hyperglycemia	ORPHA:2089
4H Leukodystrophy	Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysmetria, Dysphagia, Progressive gait ataxia, Dys...	ORPHA:289494
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls	OMIM:616719
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma...	ORPHA:530983
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperglycemia, Hyperinsulinemia	OMIM:608612
Cystathioninuria	Tremor, Seizure	ORPHA:212
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypoalbuminemia, Hypoglycemia	OMIM:618329
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Babinski sign, Slurred speech, Unsteady gait, Clumsiness, Poor fine motor...	ORPHA:137898
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Decreased fertility, Fasciculations, Dysphagia, Testicular atrophy	OMIM:313200
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis...	ORPHA:79259
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Houge-Janssens Syndrome 3	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz...	OMIM:618354
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc...	OMIM:619381
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Elevated circulating creatinine concentration, Depression, Irritability, Normo...	ORPHA:247691
Alstrom Syndrome	Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrea...	OMIM:203800
Trichohepatoenteric Syndrome 1	Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hypermethion...	OMIM:222470
Riboflavin Transporter Deficiency	Ataxia, Cachexia, Aggressive behavior, Tremor, Hypogonadism, Myoclonus, Dysphagia	ORPHA:97229
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormality of coordination, Ataxia, Involuntary movements, Impulsivity, Tremor, Rigidity, Myoclo...	ORPHA:442835
Gerstmann-Straussler Disease	Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weig...	OMIM:137440
Chromosome Xp11.23-P11.22 Duplication Syndrome	Generalized non-motor (absence) seizure	OMIM:300801
Xp21 Deletion Syndrome	Hypertriglyceridemia, Osteoporosis, Elevated circulating creatine kinase concentration, Reduced b...	ORPHA:261476
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231214
Anterior Cutaneous Nerve Entrapment Syndrome	Somatic sensory dysfunction, Anorexia, Impaired tactile sensation, Hyperesthesia, Decreased body ...	ORPHA:51890
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Hypertonia, Attention deficit hyperactivity disorder, Failure to thrive	OMIM:619556
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia	OMIM:617243
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608049
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ...	OMIM:151660
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi...	OMIM:617156
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Methemoglobinemia, Polycythemia, Opisthotonus	OMIM:250800
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso...	OMIM:311510
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials	ORPHA:1389
Perry Syndrome	Parkinsonism, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disinhibition,...	OMIM:168605
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Depre...	ORPHA:171
Hereditary Methemoglobinemia	Athetosis, Cyanosis, Methemoglobinemia, Limb dystonia	ORPHA:621
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Cryptorchidism, Polyphagia, Self-injurious behavior, Abnormal repetitive m...	ORPHA:228402
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Impaired social interactions, Attention deficit hyper...	OMIM:610042
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Hypoalbuminemia, Craniosynostosis	ORPHA:79396
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Anisocytosis	OMIM:604273
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater...	ORPHA:98795
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Coronal craniosynostosis, Hypoalbuminemia	OMIM:235510
Bile Acid Synthesis Defect, Congenital, 5	Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile...	OMIM:616278
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	OMIM:300894
H Syndrome	Hypertriglyceridemia, Diabetes mellitus, Microcytic anemia, Osteolysis, Hepatosplenomegaly, Histi...	ORPHA:168569
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo...	OMIM:618885
Tangier Disease	Hypertriglyceridemia, Impaired temperature sensation, Hepatosplenomegaly, Anemia, Hypocholesterol...	ORPHA:31150
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl...	OMIM:615980
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Bruxism, De...	OMIM:618342
Complex Regional Pain Syndrome	Somatic sensory dysfunction, Involuntary movements, Dysesthesia, Trophic changes related to pain,...	ORPHA:83452
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Nipah Virus Disease	Tremor, Seizure, Myoclonus, Hypotension	ORPHA:99825
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Ocul...	ORPHA:529665
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s...	OMIM:301091
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome	OMIM:201910
Developmental And Epileptic Encephalopathy 46	Tremor, Seizure, Generalized-onset seizure, Limb hypertonia	OMIM:617162
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat...	OMIM:608836
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Thrombocytopenia	ORPHA:505248
Spontaneous Periodic Hypothermia	Tremor, Seizure, Arrhythmia, Ataxia	ORPHA:29822
X-Linked Adrenoleukodystrophy	Hyperactivity, Aggressive behavior, Dementia, Gait disturbance, Disinhibition, Attention deficit ...	ORPHA:43
2,4-Dienoyl-Coa Reductase Deficiency	Seizure, Myoclonic absence seizure	OMIM:616034
Lead Poisoning	Decreased HDL cholesterol concentration, Somatic sensory dysfunction, Anorexia, Cranial hyperosto...	ORPHA:330015
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch...	OMIM:615812
Rabson-Mendenhall Syndrome	Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast...	ORPHA:769
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc...	ORPHA:90363
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Optic Atrophy 8	Abnormality of pattern visual evoked potentials	OMIM:616648
Lipodystrophy, Congenital Generalized, Type 2	Cystic angiomatosis of bone, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Hyperin...	OMIM:269700
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Osteopo...	ORPHA:186
Metachromatic Leukodystrophy, Late Infantile Form	Babinski sign, Clumsiness, Gait ataxia, Progressive gait ataxia, Tip-toe gait, Decerebrate rigidi...	ORPHA:309256
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia	ORPHA:79477
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai...	ORPHA:35069
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98855
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici...	OMIM:620242
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia	OMIM:618838
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Sneddon Syndrome	Cerebral hemorrhage, Tremor, Seizure, Hypertension, Ischemic stroke, Hemiplegia	OMIM:182410
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Pelizaeus-Merzbacher Disease	Ataxia, Choreoathetosis, Gait disturbance, Dystonia, Abnormality of visual evoked potentials, Spa...	ORPHA:702
48,Xxyy Syndrome	Hypergonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Obesity, Azoospermia, Infertility...	ORPHA:10
Hemochromatosis, Type 2A	Splenomegaly, Increased circulating ferritin concentration, Increased serum iron	OMIM:602390
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit...	OMIM:312080
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Xq28 (MECP2) duplication	Gait ataxia, Progressive spasticity, Dysphagia, Failure to thrive, Abnormal repetitive mannerisms	DECIPHER:45
Neurodegeneration With Brain Iron Accumulation 2A	Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Abnormality of visual evoked...	OMIM:256600
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased LDL choles...	OMIM:615947
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials	OMIM:609304
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:435651
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Juvenile Polyposis Of Infancy	Refractory anemia, Hypoalbuminemia, Anemia	ORPHA:79076
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obesity, Inappropriate...	ORPHA:98794
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98853
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Seizure, Status epilepticus, Generalized non-motor (absence) seizure, Tonic seizure	OMIM:300260
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Steppage gait, Myoclonus, Inte...	OMIM:616505
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Hypoadrenocorticism, Familial	Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Hemochromatosis, Type 1	Diabetes mellitus, Splenomegaly, Increased circulating ferritin concentration, Osteoporosis, Gluc...	OMIM:235200
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168600
Optic Atrophy 11	Hyperactivity, Ataxia, Splenomegaly, Dysmetria, Athetosis, Stereotypical body rocking, Attention ...	OMIM:617302
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Hypotension	ORPHA:178509
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity	OMIM:616840
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia, Anemia	OMIM:174000
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Seizure, Athetosis, Hyperton...	OMIM:617710
Metachromatic Leukodystrophy, Juvenile Form	Babinski sign, Clumsiness, Progressive gait ataxia, Decerebrate rigidity, Dystonia, Abnormality o...	ORPHA:309263
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia, Self-mutilation	ORPHA:52503
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi...	ORPHA:411634
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap...	OMIM:618060
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait...	OMIM:168601
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, I...	ORPHA:280365
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Low frustration tolerance, Abno...	ORPHA:163681
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Overweight, Self-mutilation, Hyperkinetic movements, Upper limb spasticity, Abnormal repe...	ORPHA:457240
Griscelli Syndrome Type 1	Hyperlipidemia, Ataxia	ORPHA:79476
Young-Onset Parkinson Disease	Restless legs, Impulsivity, Tremor, Rigidity, Spasticity, Bradykinesia, Male sexual dysfunction, ...	ORPHA:2828
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Ataxia, Impulsivity, Aggressive behavior, Tongue thrusting, Opisthotonus, Choreoathetosis, Gait a...	OMIM:619580
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,...	OMIM:616586
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal ataxia, Recurrent hand...	OMIM:617101
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, D...	OMIM:614381
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Hypoglycemia, Insulin resistance, Osteoporosis, Attention deficit hyperactivity di...	ORPHA:73272
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypoxemia, Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injuriou...	ORPHA:449291
Graves Disease, Susceptibility To, 1	Irritability, Hyperactivity, Polyphagia	OMIM:275000
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Ataxia, Tongue thrusting, Pica, Hypertonia, Tics, Stereotypical body rocking, Prog...	OMIM:617865
Saccharopinuria	Tremor, Seizure, Spastic diplegia, Gait ataxia	ORPHA:3124
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Lipodystrophy, Congenital Generalized, Type 1	Cystic angiomatosis of bone, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Hyperinsuline...	OMIM:608594
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, General...	ORPHA:79351
Den Hoed-De Boer-Voisin Syndrome	Generalized clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Nocturn...	OMIM:619229
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu...	OMIM:614207
Aapoaiv Amyloidosis	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration	ORPHA:439232
Spastic Paraplegia 29, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Clonus, Babinski sign, Spasti...	OMIM:609727
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Ataxia, Dystonia	OMIM:251300
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Increased LDL c...	ORPHA:412
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Pain insensitivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-pi...	OMIM:600430
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Delayed puberty, A...	ORPHA:95496
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hypertriglyceridemia, Hypoglycemia, Neonatal hypoglycemia, Splenomegaly, Polysp...	OMIM:619418
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes...	ORPHA:275761
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto...	ORPHA:765
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Metachromatic Leukodystrophy, Adult Form	Chorea, Babinski sign, Clumsiness, Progressive spastic quadriplegia, Progressive gait ataxia, Dec...	ORPHA:309271
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Increased hepatic echogenicity, Fasting hypoglycemia, Impaired glucon...	OMIM:261680
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur...	ORPHA:457351
Pancreatic Agenesis 2	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic aplasia	OMIM:615935
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Intellectual Developmental Disorder, Autosomal Dominant 42	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic seizure, Focal-...	OMIM:616973
Neurodegeneration With Brain Iron Accumulation 2B	Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys...	OMIM:610217
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ...	OMIM:248370
Combined Oxidative Phosphorylation Deficiency 32	Death in infancy, Tremor, Choreoathetosis, Seizure, Dystonia, Spasticity	OMIM:617664
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Migraine, Familial Hemiplegic, 2	Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,...	OMIM:602481
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure	OMIM:615398
Autosomal Dominant Optic Atrophy Plus Syndrome	Abnormality of visual evoked potentials, Spastic paraplegia, Ataxia	ORPHA:1215
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor...	OMIM:614298
Peroxisomal Acyl-Coa Oxidase Deficiency	Abnormality of visual evoked potentials, Hypertonia, Gait disturbance	ORPHA:2971
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
Cholestasis-Lymphedema Syndrome	Splenomegaly, Hyperlipidemia, Reduced bone mineral density	ORPHA:1414
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Obesity, Compulsive behaviors, Spa...	OMIM:618430
Progressive Supranuclear Palsy	Impulsivity, Tremor, Rigidity, Dysphagia, Abnormal synaptic transmission, Blepharospasm, Bradykin...	ORPHA:683
Methanol Poisoning	Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus	ORPHA:31825
3P25.3 Microdeletion Syndrome	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	ORPHA:435638
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Splenomegaly, Increased circulating ferritin concentration, Elevated transferr...	ORPHA:465508
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Adenylosuccinase Deficiency	Hyperactivity, Aggressive behavior, Opisthotonus, Gait ataxia, Myoclonus, Inappropriate laughter,...	OMIM:103050
Intellectual Developmental Disorder, X-Linked 98	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Generalized non-motor (absence) ...	OMIM:300912
Neurodevelopmental Disorder With Involuntary Movements	Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Athetosis, Hyper...	OMIM:617493
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P...	OMIM:131100
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Diabetes mellitus, Abnormal erythrocyte enzyme leve...	ORPHA:101330
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Chorea, Bruxism, Hemiparesis, Self-injurious behavior, Dystonia, Abnormal re...	OMIM:618004
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
X-Linked Cerebral Adrenoleukodystrophy	Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Dysmetria, Gait distur...	ORPHA:139396
Carnitine Palmitoyltransferase I Deficiency	Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Hyp...	OMIM:255120
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Generalized non-motor (absence) seizure	ORPHA:363686
Charcot-Marie-Tooth Disease, Type 4D	Abnormality of visual evoked potentials, Unsteady gait, Frequent falls, Gait disturbance	OMIM:601455
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Canavan Disease	Abnormality of visual evoked potentials	ORPHA:141
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi...	OMIM:618056
Proximal 16P11.2 Microdeletion Syndrome	Speech apraxia, Obesity, Choreoathetosis, Impaired social interactions, Dystonia, Attention defic...	ORPHA:261197
Stargardt Disease	Abnormality of visual evoked potentials	ORPHA:827
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Sei...	ORPHA:395
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo...	ORPHA:2126
Dpm1-Cdg	Early onset absence seizures, Seizure, Generalized myoclonic seizure, Atonic seizure, Generalized...	ORPHA:79322
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Hypertonia, Compulsive b...	OMIM:300986
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Abnormality of visual evoked potentials, Ataxia	ORPHA:1933
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia	OMIM:618314
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Dystonia, Abnormal blood inorganic cation concentration, Action tremor, Splenomegaly, Dysdiadocho...	ORPHA:309854
Intellectual Developmental Disorder, Autosomal Dominant 22	Seizure, Generalized non-motor (absence) seizure	OMIM:612337
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Smith-Lemli-Opitz Syndrome	Hyperactivity, Aggressive behavior, Splenomegaly, Epiphyseal stippling, Hypoalbuminemia, Elevated...	OMIM:270400
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Death in infancy, Clonus, Left ventricular noncompaction cardiomyopathy, Tremor, Cardiogenic shoc...	OMIM:619424
Glycogen Storage Disease Ib	Hypoglycemia, Splenomegaly, Hyperlipidemia, Osteoporosis, Xanthelasma, Hyperuricemia, Neutropenia	OMIM:232220
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Microtriplication 11Q24.1	Hyperlipidemia, Bruxism	ORPHA:289522
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Attention defic...	OMIM:619121
Glycerol Kinase Deficiency	Hypertriglyceridemia, Osteoporosis, Hyperglycerolemia, Hypoglycemia	OMIM:307030
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Kleefstra Syndrome Due To 9Q34 Microdeletion	Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure	ORPHA:96147
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Reduced b...	OMIM:617052
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep...	OMIM:606002
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype...	ORPHA:340
Cerebral Creatine Deficiency Syndrome 1	Speech apraxia, Dystonia, Aggressive behavior, Hypertonia, Poor hand-eye coordination, Impaired s...	OMIM:300352
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Hemiparesis, Pseudobulbar paralysis, Gait disturbance, Abnormality of visual evoked potentials	OMIM:125310
Leprechaunism	Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, R...	ORPHA:508
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention defici...	OMIM:619680
Rett Syndrome, Congenital Variant	Chorea, Tongue thrusting, Bruxism, Athetosis, Impaired social interactions, Dystonia, Spasticity,...	OMIM:613454
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Seizure, Cardiomyo...	OMIM:105210
Angelman Syndrome	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Tongue thrusting, Obesity, Self-injurious beh...	ORPHA:72
Early Infantile Epileptic Encephalopathy	Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Focal-onset seizure...	ORPHA:1934
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ...	OMIM:176270
Classic Phenylketonuria	Tremor, Paraplegia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder...	ORPHA:79254
48,Xxxy Syndrome	Tremor, Cryptorchidism, Obesity, Azoospermia, Hypogonadism, Infertility, Attention deficit hypera...	ORPHA:96263
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Seizure, Generalized non-motor (absence) seizure	OMIM:617360
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Dietary Iron Overload Disease	Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,...	ORPHA:139507
47,Xyy Syndrome	Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Impai...	ORPHA:8
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Diabetes mellitus, Hypertriglyceridemia, Impaired temperature sensation	ORPHA:536532
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance	ORPHA:83629
Infantile Liver Failure Syndrome 2	Jaundice, Hypoglycemia	OMIM:616483
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Abnormality of visual evoked potentials, Vocal cord paresis, Steppage gait	OMIM:601152
Friedreich Ataxia	Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Abnormality of visual evoked potentials	OMIM:229300
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Steatorrhea, Persistence of hemoglobin F,...	OMIM:260400
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteolytic defects of the phalanges of...	OMIM:619127
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Infantile spasms	OMIM:620224
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Rigidity, Chorea, Subdural h...	ORPHA:25
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive...	ORPHA:512
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:615802
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Acquired Methemoglobinemia	Hypoxemia, Cyanosis, Methemoglobinemia	ORPHA:464453
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis	ORPHA:369837
Intellectual Developmental Disorder, Autosomal Dominant 53	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:617798
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Chorea, Compulsive behaviors, Limb dystonia, ...	ORPHA:2388
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Osteo...	ORPHA:189427
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Alternating Hemiplegia Of Childhood	Bilateral tonic-clonic seizure, Ataxia, Cardiac conduction abnormality, Tremor, Rigidity, Chorea,...	ORPHA:2131
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs...	OMIM:619777
Tetanus	Tachycardia, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Bradycardia, Spasticity of...	ORPHA:3299
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Ataxia, Tremor, Seizure, Hypertension, Arrhythmia, Death in childhood, Neonatal death, Hypertroph...	OMIM:614052
Hyperlysinemia	Hyperactivity, Craniosynostosis, Tremor, Argininuria, Hyperammonemia, Cystinuria, Dysmetria, Opis...	ORPHA:2203
Oligomeganephronia	Polydipsia, Elevated circulating creatinine concentration	ORPHA:2260
Brain-Lung-Thyroid Syndrome	Hyperactivity, Dystonia, Ataxia, Incoordination, Involuntary movements, Abnormal eating behavior,...	ORPHA:209905
Gracile Syndrome	Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ...	ORPHA:53693
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms, Impaired social interactions	ORPHA:168782
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Dysmetria, Gait ataxia, Dis...	OMIM:606721
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Urinary incontinence, Akinesia, Phonic tics, Depression, Choreoathetosis, ...	OMIM:234200
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials	OMIM:618195
Mercury Poisoning	Tachycardia, Tremor, Seizure, Hypertension, Hypotension, Dystonia	ORPHA:330021
Glycogen Storage Disease Ia	Hypoglycemia, Hyperlipidemia, Osteoporosis, Xanthelasma, Hyperuricemia, Fasting hypoglycemia	OMIM:232200
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Goodpasture Syndrome	Cyanosis, Anemia, Increased blood urea nitrogen	OMIM:233450
Serotonin Syndrome	Tachycardia, Clonus, Tremor, Rigidity, Seizure, Hypertension, Hypertonia, Myoclonus, Hypotension	ORPHA:43116
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials	OMIM:617523
Oculocutaneous Albinism Type 1	Abnormality of visual evoked potentials	ORPHA:352731
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Abnormality of visual evoked potentials, Spastic tetraplegia, Limb hypertonia	OMIM:614457
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Diabetes mellitus, Hypoglycemia, Glycosuria	OMIM:616026
Argininemia	Hyperactivity, Anorexia, Hyperammonemia, Irritability, Diaminoaciduria, Hyperargininemia	OMIM:207800
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Elevated cir...	OMIM:137920
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Dystonia, Tremor, Typical absence seizure, Dysmetri...	ORPHA:845
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Diabetes mellitus, ...	ORPHA:79474
19P13.12 Microdeletion Syndrome	Hyperactivity, Self-injurious behavior, Hyperlipidemia, Craniosynostosis	ORPHA:254346
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Cardiogenic Shock	Hypoxemia, Elevated circulating creatinine concentration	ORPHA:97292
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Rett Syndrome	Limb apraxia, Bradykinesia, Agitation, Dystonia, Failure to thrive, Abnormal repetitive mannerism...	ORPHA:778
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Insulin resistance, Osteolysis, Osteolytic defects of the distal phal...	ORPHA:90154
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Elevated circulating creatinine concentration	OMIM:617478
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ...	ORPHA:1830
Microcephaly 29, Primary, Autosomal Recessive	Emotional lability, Hyperactivity, Ataxia	OMIM:620047
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Impaired glucose tolerance, Elevat...	OMIM:256040
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyp...	ORPHA:98784
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compulsive behaviors, Limb dyst...	ORPHA:646
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase...	ORPHA:786
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d...	ORPHA:476126
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Cryptorchidism, Gait ataxia, Spasticity, Abnormal repetitive mannerisms, Self-muti...	OMIM:300486
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Weaver Syndrome	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:277590
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Spasticity, Abnormal repetitive mannerisms, Involuntary movements, Dysphagia	ORPHA:572013
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Methemoglobinemia	OMIM:250790
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ...	ORPHA:91500
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Tachycardia, Periodic paralysis	OMIM:613239
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ...	ORPHA:90790
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hy...	OMIM:615356
Neutral Lipid Storage Myopathy	Diabetes mellitus, Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98908
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Infantile spasms, Focal tonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Genera...	ORPHA:404454
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation	ORPHA:424
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Bilateral tonic-clonic seizure, Involuntary movements, Prolon...	ORPHA:90068
Trigeminal Neuralgia	Somatic sensory dysfunction, Paresthesia, Allodynia	ORPHA:221091
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Seizure, Lower limb hypertoni...	ORPHA:447753
Infantile Krabbe Disease	Lower limb spasticity, Spastic diplegia, Opisthotonus, Ankle clonus, Myoclonus, Decerebrate rigid...	ORPHA:206436
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Pauci-Immune Glomerulonephritis	Granulomatosis, Elevated circulating creatinine concentration	ORPHA:93126
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Abnormality of visual evoked potentials, Dystonia, Limb hypertonia	OMIM:616875
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormality of visual evoked potentials, Dystonic gait, Limb hypertonia	ORPHA:480898
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenome...	OMIM:619534
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Focal-onset seizure, Seizure, Generalized non-motor (absence) seizure	ORPHA:258
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Hypoesthesia, Distal sensory impairment, Weight loss, Dysphagia, Slender build, Allodynia	OMIM:603041
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Kinsship Syndrome	Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo...	OMIM:619297
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Achalasia-Addisonianism-Alacrima Syndrome	Abnormality of visual evoked potentials, Babinski sign, Ataxia	OMIM:231550
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, Insulin resistance, Osteolysis, Osteolytic defects of the distal phalanges of the...	ORPHA:90153
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se...	ORPHA:466943
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Glycogen Storage Disease Ic	Hypoglycemia, Cyclic neutropenia, Hyperlipidemia, Xanthelasma, Hyperuricemia	OMIM:232240
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga...	OMIM:601104
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Clonus, Tremor, Seizure, Hypertonia, Bradycardia, Dystonia, Neonatal death	OMIM:617248
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal...	OMIM:614947
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Seizure, Typical absence seizure	OMIM:618343
Tropical Endomyocardial Fibrosis	Splenomegaly, Hypoalbuminemia, Eosinophilia	ORPHA:75565
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme...	ORPHA:522077
Xq12-Q13.3 Duplication Syndrome	Abnormality of visual evoked potentials	ORPHA:314389
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Abnormal hemoglobin, Anemia, Depression	ORPHA:847
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Hand tremor, Weight loss	ORPHA:99819
Aromatase Deficiency	Osteopenia, Hyperlipidemia, Delayed epiphyseal ossification, Osteoporosis, Insulin resistance, Ty...	ORPHA:91
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Aggressive behavior, Abnormal pyramidal sign, Dysmetria, Positive Romberg sign, Nonprogre...	ORPHA:314647
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Turner Syndrome Due To Structural X Chromosome Anomalies	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99413
Mosaic Monosomy X	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99228
Monosomy X	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99226
Turner Syndrome	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:881
Ruvalcaba Syndrome	Abnormality of visual evoked potentials	ORPHA:3121
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Cyanosis, Aggressive behavior, Impaired pain sensation, Hyperlipidemia, Hyperkalemi...	ORPHA:293987
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Ataxia-Telangiectasia	Female hypogonadism, Ataxia, Tremor, Slurred speech, Abnormal spermatogenesis, Choreoathetosis, P...	OMIM:208900
Primary Triglyceride Deposit Cardiomyovasculopathy	Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidem...	ORPHA:565612
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia	OMIM:146500
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Obesity, Head-banging, Compulsive behaviors, Attention deficit hyp...	ORPHA:177907
Scorpion Envenomation	Bundle branch block, Hemifacial spasm, Tachycardia, Ataxia, Cardiac conduction abnormality, Tremo...	ORPHA:466677
Fg Syndrome Type 1	Cryptorchidism, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social b...	ORPHA:93932
Tyrosinemia Type 2	Tremor, Seizure, Ataxia	ORPHA:28378
Igg4-Related Kidney Disease	Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le...	ORPHA:449395
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Oculocutaneous Albinism Type 1A	Abnormality of visual evoked potentials	ORPHA:79431
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Fabry Disease	Anorexia, Hyperlipidemia, Reduced bone mineral density, Depression, Abnormal circulating lipid co...	ORPHA:324
Pmm2-Cdg	Osteopenia, Ataxia, Reduced thyroxin-binding globulin, Insulin resistance, Osteoporosis, Hyperins...	ORPHA:79318
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ...	OMIM:616393
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia	ORPHA:199276
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Transketolase Deficiency	Secondary amenorrhea, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsi...	ORPHA:488618
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormality of visual evoked potentials	ORPHA:485421
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Abnormal repetitive mannerisms, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic m...	OMIM:301040
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure	ORPHA:466950
Cerebrotendinous Xanthomatosis	Resting tremor, Dystonia, Ataxia, Parkinsonism, Paraparesis, Babinski sign, Abnormal pyramidal si...	ORPHA:909
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Generalized non-motor (absence) seizure	ORPHA:293978
Niemann-Pick Disease, Type C2	Ataxia, Dysphagia, Dystonia, Cataplexy, Spasticity, Abnormal repetitive mannerisms	OMIM:607625
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Dysphagia, Hypoplasia of the thymus, Truncal ataxia, Intention tremor	OMIM:264090
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo...	ORPHA:84064
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Hypertonia, Myoclonic spasms, Dysphag...	ORPHA:447997
Neurotrophic Keratopathy	Allodynia, Hyperesthesia	ORPHA:137596
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Bilateral tonic-clonic seizure, Typical absence seizure, Seizure, Generalized myoclonic seizure, ...	ORPHA:268261
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia	OMIM:118450
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se...	ORPHA:513456
Mend Syndrome	Hyperactivity, Failure to thrive, Aggressive behavior, Cryptorchidism, Abnormal social behavior, ...	ORPHA:401973
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Hypertriglyceridemia, Ataxia, Tremor, Type II diabetes mellitus, Truncal ataxia, Acti...	ORPHA:3455
Liver Disease, Severe Congenital	Hepatomegaly, Biliary hyperplasia, Abnormal circulating thyroid hormone concentration, Jaundice, ...	OMIM:619991
Van Esch-O'Driscoll Syndrome	Hypogonadotropic hypogonadism, Impulsivity, Shyness, Unilateral vocal cord paralysis, Attention d...	OMIM:301030
Nmda Receptor Encephalitis	Dystonia, Involuntary movements, Oculogyric crisis, Rigidity, Hypersexuality, Chorea, Opisthotonu...	ORPHA:217253
Micro Syndrome	Abnormality of visual evoked potentials	ORPHA:2510
Helsmoortel-Van Der Aa Syndrome	Seizure, Typical absence seizure, Tonic seizure	OMIM:615873
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Seizure, Typical absence seizure	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Seizure, Typical absence seizure	ORPHA:352665
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid conc...	ORPHA:567983
White-Sutton Syndrome	Waddling gait, Abnormality of visual evoked potentials	OMIM:616364
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure	ORPHA:2636
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:612474
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis, Abnormality of visual evoked potentials	OMIM:203700
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:620330
Mogs-Cdg	Abnormality of visual evoked potentials, Dystonia	ORPHA:79330
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Focal-onset seizure, Typical absence seizure, Atonic seizure	OMIM:617157
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Self-injurious b...	ORPHA:805
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Generalized-onset seizure, Generalized non-motor (absence) seizure	ORPHA:500150
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Small for gestational age, Testicular neoplasm, Cryptorchidism, Inappropriate lau...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Small for gestational age, Testicular neoplasm, Cryptorchidism, Inappropriate lau...	ORPHA:363958
Woodhouse-Sakati Syndrome	Choreoathetosis, Hyperlipidemia, Diabetes mellitus, Dystonia	OMIM:241080
Carpenter Syndrome 2	Generalized non-motor (absence) seizure	OMIM:614976
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Cockayne Syndrome A	Tremor, Ataxia, Gait disturbance, Abnormality of visual evoked potentials	OMIM:216400
Sotos Syndrome	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Focal impaired ...	ORPHA:821
Cockayne Syndrome B	Tremor, Ataxia, Abnormality of visual evoked potentials	OMIM:133540
Hermansky-Pudlak Syndrome	Abnormality of visual evoked potentials	ORPHA:79430
Leukocyte Adhesion Deficiency	Peritonitis, Hyperinsulinemic hypoglycemia	ORPHA:2968
Williams Syndrome	Hypogonadotropic hypogonadism, Involuntary movements, Ataxia, Failure to thrive in infancy, Tremo...	ORPHA:904
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353281
Autosomal Recessive Malignant Osteopetrosis	Tremor, Abnormality of visual evoked potentials	ORPHA:667
Dihydropyrimidine Dehydrogenase Deficiency	Hypertonia, Abnormal social behavior	ORPHA:1675
Benign Schwannoma	Allodynia	ORPHA:252164
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353277
Mowat-Wilson Syndrome	Focal-onset seizure, Seizure, Status epilepticus, Atypical absence seizure	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Focal-onset seizure, Seizure, Atypical absence seizure	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Focal-onset seizure, Seizure, Atypical absence seizure	ORPHA:261552
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gnao1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gnao1.

No publications found that use IMPC mice or data for Gnao1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Gnao1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Gnao1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Gnao1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Gnao1 MGI:95775

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Adult LacZ

Echo

Embryo LacZ

X-ray

MicroCT E14.5-E15.5

X-ray

MicroCT E18.5

Immunophenotyping

Immunophenotyping

Auditory Brain Stem Response

Human diseases caused by Gnao1 mutations

Histopathology

IMPC related publications

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