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Gene: Chn1 MGI:1915674

Gene Summary

Name:

chimerin 1

Synonyms:

ARHGAP2, alpha1 chimaerin, 1700112L09Rik, 2900046J01Rik, 0610007I19Rik, 0710001E19Rik, alpha2 chimaerin

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
decreased grip strength	Chn1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	4.92×10^-05
hyperactivity	Chn1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.36×10^-24
increased hematocrit	Chn1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	8.73×10^-08
decreased circulating iron level	Chn1^em1(IMPC)J	HET	Early adult	3.18×10^-15
increased hemoglobin content	Chn1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	5.59×10^-05
preweaning lethality, incomplete penetrance	Chn1^em1(IMPC)J	HOM	Early adult	0.00
increased mean corpuscular volume	Chn1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.45×10^-13
decreased circulating glucose level	Chn1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	7.33×10^-09
decreased circulating chloride level	Chn1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.49×10^-05
decreased circulating glucose level	Chn1^em1(IMPC)J	HET	Early adult	3.72×10^-14
increased mean corpuscular hemoglobin	Chn1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.39×10^-10
increased circulating alkaline phosphatase level	Chn1^em1(IMPC)J	HET	Early adult	3.68×10^-08
decreased circulating free fatty acids level	Chn1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	6.66×10^-06
increased circulating alkaline phosphatase level	Chn1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	5.08×10^-05
increased circulating sodium level	Chn1^em1(IMPC)J	HET	Early adult	7.53×10^-06
increased lean body mass	Chn1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.75×10^-05
abnormal sleep behavior	Chn1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.67×10^-05
increased circulating sodium level	Chn1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	6.36×10^-06
decreased total body fat amount	Chn1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.79×10^-07

Download data as: TSV XLS

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Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Section images	heterozygote	50% (1 of 2)
Bone marrow	Section images	heterozygote	100% (2 of 2)
Bone	Section images	heterozygote	100% (2 of 2)
Brain	Section images	heterozygote	100% (2 of 2)
Brainstem	Section images	heterozygote	100% (2 of 2)
Cerebellum	Section images	heterozygote	50% (1 of 2)
Cerebral cortex	Section images	heterozygote	100% (2 of 2)
Esophagus	Section images	heterozygote	50% (1 of 2)
Eye	Section images	heterozygote	50% (1 of 2)
Heart	Section images	heterozygote	50% (1 of 2)
Hippocampus	Section images	heterozygote	50% (1 of 2)
Hypothalamus	Section images	heterozygote	50% (1 of 2)
Kidney	Section images	heterozygote	100% (2 of 2)
Large intestine	Section images	heterozygote	50% (1 of 2)
Lung	Section images	heterozygote	50% (1 of 2)
Midbrain	Section images	heterozygote	100% (2 of 2)
Olfactory lobe	Section images	heterozygote	50% (1 of 2)
Ovary	Section images	heterozygote	50% (1 of 2)
Oviduct	Section images	heterozygote	50% (1 of 2)
Pancreas	Section images	heterozygote	50% (1 of 2)
Pituitary gland	Section images	heterozygote	50% (1 of 2)
Skin	Section images	heterozygote	50% (1 of 2)
Small intestine	Section images	heterozygote	50% (1 of 2)
Spinal cord	Section images	heterozygote	100% (2 of 2)
Spleen	Section images	heterozygote	50% (1 of 2)
Stomach	Section images	heterozygote	50% (1 of 2)
Striatum	Section images	heterozygote	50% (1 of 2)
Submandibular gland	Section images	heterozygote	50% (1 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Thalamus	Section images	heterozygote	50% (1 of 2)
Thymus	Section images	heterozygote	50% (1 of 2)
Thyroid gland	Section images	heterozygote	50% (1 of 2)
Trachea	Section images	heterozygote	100% (2 of 2)
Uterus	Section images	heterozygote	50% (1 of 2)
Vascular system	Section images	heterozygote	50% (1 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	50% (1 of 2)
Epididymis	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Vesicular gland	N/A	heterozygote	Not available
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
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	Ambiguous
Brain	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	homozygote	Ambiguous
Dorsal root ganglion	N/A	heterozygote	0.0% (0 of 1)
Dorsal root ganglion	N/A	homozygote	Ambiguous
Ear	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	homozygote	Ambiguous
Eye	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	homozygote	Ambiguous
Footplate	N/A	heterozygote	100% (2 of 2)
Footplate	N/A	homozygote	Ambiguous
Forebrain	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	homozygote	Ambiguous
Forelimb	N/A	heterozygote	50% (1 of 2)
Forelimb	N/A	homozygote	Ambiguous
Fronto-nasal process	N/A	heterozygote	0.0% (0 of 1)
Fronto-nasal process	N/A	homozygote	Ambiguous
Handplate	N/A	heterozygote	100% (2 of 2)
Handplate	N/A	homozygote	Ambiguous
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	Ambiguous
Heart	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	homozygote	Ambiguous
Hindbrain	N/A	heterozygote	0.0% (0 of 2)
Hindbrain	N/A	homozygote	Ambiguous
Hindlimb	N/A	heterozygote	50% (1 of 2)
Hindlimb	N/A	homozygote	Ambiguous
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	Ambiguous
Lung	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	homozygote	Ambiguous
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	homozygote	Ambiguous
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	homozygote	Ambiguous
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	homozygote	Ambiguous
Nose	N/A	heterozygote	0.0% (0 of 1)
Nose	N/A	homozygote	Ambiguous
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	homozygote	Ambiguous
Skin	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	homozygote	Ambiguous
Spinal cord	N/A	heterozygote	0.0% (0 of 1)
Spinal cord	N/A	homozygote	Ambiguous
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	homozygote	Not available
Tail	N/A	heterozygote	0.0% (0 of 2)
Tail	N/A	homozygote	Not available

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%
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	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%
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	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%
submandibular gland	0.0%
testis	0.0%
thalamus	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
urinary bladder
uterus	0.0%
vascular system	0.0%
vesicular gland	Unavailable
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%
dorsal root ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
fronto-nasal process	Ambiguous
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%
nose	Ambiguous
oral cavity	0.0%
skin	0.0%
spinal cord	Ambiguous
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.

Embryo LacZ

LacZ images wholemount

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

21 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

21 Images

View images

Adult LacZ

LacZ Images Section

44 Images

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Sleep Wake

Wake state (bmp file)

18 Images

View images

X-ray

XRay Images Skull Lateral Orientation

21 Images

View images

X-ray

XRay Images Forepaw

21 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

View images

Eye Morphology

Images Slit Lamp

1 Images

View images

Auditory Brain Stem Response

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

16 Images

View images

Electroretinography 2

Rod and cone PDF

4 Images

View images

Human diseases caused by Chn1 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 Chn1 (2 diseases)
Human diseases predicted to be associated with Chn1 (542 diseases)

The table below shows human diseases associated to Chn1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Duane Retraction Syndrome		Seizure, Spina bifida occulta	ORPHA:233
Duane Retraction Syndrome 2			OMIM:604356

The table below shows human diseases predicted to be associated to Chn1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Iron Overload, Susceptibility To	Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati...	OMIM:620121
Autosomal Dominant Spastic Paraplegia Type 41	Abnormal lower-limb motor evoked potentials, Spastic gait, Spinal cord lesion, Degeneration of th...	ORPHA:320355
Spastic Paraplegia 2, X-Linked	Degeneration of the lateral corticospinal tracts, Dysmetria, Spinocerebellar tract degeneration, ...	OMIM:312920
Spastic Paraplegia 25, Autosomal Recessive	Spinal cord compression	OMIM:608220
Autosomal Dominant Spastic Paraplegia Type 37	Abnormal lower-limb motor evoked potentials, Degeneration of the lateral corticospinal tracts, Sp...	ORPHA:171612
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology, Spastic gait	OMIM:611637
Autosomal Dominant Spastic Paraplegia Type 8	Abnormal lower-limb motor evoked potentials, Degeneration of the lateral corticospinal tracts, Sp...	ORPHA:100989
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Autosomal Dominant Spastic Paraplegia Type 42	Abnormal lower-limb motor evoked potentials, Spastic gait, Spinal cord lesion, Degeneration of th...	ORPHA:171863
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, Truncal ataxia, Abn...	OMIM:608636
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus	ORPHA:22
Myoclonic Epilepsy, Familial Infantile	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t...	OMIM:605021
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive...	OMIM:300088
Autosomal Dominant Spastic Paraplegia Type 19	Abnormal lower-limb motor evoked potentials, Degeneration of the lateral corticospinal tracts, Sp...	ORPHA:100999
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz...	OMIM:615006
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Hydrocephalus, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive man...	OMIM:618709
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Unsteady gait, Limb ataxia, Gait ataxia, Progressive cere...	ORPHA:95434
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Autism, Susceptibility To, X-Linked 3	Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior	OMIM:300425
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance	ORPHA:247604
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Focal motor status epilepticus, Aggressive behavior, Focal-onset seizure, Seizure, Falls,...	OMIM:619150
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Dorsal column degeneration, Progressive cerebellar ataxia, Ataxia, Spinocerebellar tract degenera...	ORPHA:3177
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Amyotrophic Lateral Sclerosis 19	Loss of ambulation, Amyotrophic lateral sclerosis	OMIM:615515
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Craniofacial Conodysplasia	Spinal cord compression	ORPHA:85168
Autism, Susceptibility To, 8	Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior	OMIM:607373
Autism	Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior	OMIM:209850
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Bilateral tonic-clonic seizure, Gait ataxia, Dysphagia, Recurrent hand flapping...	OMIM:617862
Developmental And Epileptic Encephalopathy 104	Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se...	OMIM:619970
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Developmental And Epileptic Encephalopathy 59	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Self-...	OMIM:617904
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ...	OMIM:214700
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology	DECIPHER:29
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Bilateral tonic-clonic seizure, Aggressive behavior, Agitation, Status epilepticus, Abnormal repe...	OMIM:617171
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni...	OMIM:615751
Autosomal Dominant Spastic Paraplegia Type 73	Abnormal lower-limb motor evoked potentials, Spastic gait, Difficulty walking, Degeneration of th...	ORPHA:444099
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa...	OMIM:614417
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen...	OMIM:616346
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno...	OMIM:616860
Gerstmann-Straussler-Scheinker Syndrome	Abnormal pyramidal tract morphology, Gait ataxia	ORPHA:356
Amyotrophic Lateral Sclerosis 16, Juvenile	Loss of ambulation, Amyotrophic lateral sclerosis	OMIM:614373
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, Abnormal pyramidal trac...	ORPHA:206448
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Congenital Isolated Acth Deficiency	Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures	ORPHA:199296
N-Acetylaspartate Deficiency	Broad-based gait, Unsteady gait, Seizure, Truncal ataxia, Abnormal repetitive mannerisms, Self-mu...	OMIM:614063
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic...	OMIM:616540
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c...	OMIM:105400
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia	ORPHA:446
Autosomal Dominant Spastic Paraplegia Type 38	Abnormal lower-limb motor evoked potentials, Spastic gait, Spinal cord lesion, Degeneration of th...	ORPHA:171617
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Impulsivity, Myoclonic s...	OMIM:617113
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Intellectual Developmental Disorder, X-Linked 72	Seizure, Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Autosomal Dominant Spastic Paraplegia Type 12	Abnormal lower-limb motor evoked potentials, Degeneration of the lateral corticospinal tracts, Sp...	ORPHA:100993
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonic seizur...	OMIM:617831
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinemia, Anemia	OMIM:238700
Dravet Syndrome	Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis...	OMIM:607208
Neuropathy, Ataxia, And Retinitis Pigmentosa	Corticospinal tract atrophy, Ataxia	OMIM:551500
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait	OMIM:611067
Epilepsy, Progressive Myoclonic, 8	Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls,...	OMIM:616230
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Aggressive behavior, Hydrocephalus, Seizure, Abnormal repetitive...	OMIM:619470
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive	OMIM:613090
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia	OMIM:616949
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv...	ORPHA:101039
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal pyramidal tract morphology, Tip-toe gait, Gait disturbance	ORPHA:83629
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Developmental And Epileptic Encephalopathy 58	Inability to walk, Seizure, Abnormal repetitive mannerisms, Status epilepticus	OMIM:617830
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, A...	ORPHA:3008
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonus, Diffi...	OMIM:614018
Lennox-Gastaut Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Falls, M...	ORPHA:2382
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypernatremia	OMIM:125800
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms	OMIM:606053
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypernatremia	OMIM:304800
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Gait disturbance	OMIM:608030
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Developmental And Epileptic Encephalopathy 24	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto...	OMIM:615871
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:610600
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Loss of ambulation, Decreased compound muscle action pote...	OMIM:606353
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Dys...	ORPHA:94093
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (...	OMIM:607682
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mann...	OMIM:239500
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Erythrocytosis, Familial, 2	Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin	OMIM:263400
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem...	ORPHA:90041
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Inability to ...	OMIM:618917
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Epilepsy, Progressive Myoclonic, 12	Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking	OMIM:619191
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum...	OMIM:611590
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron	OMIM:603358
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:614736
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Developmental And Epileptic Encephalopathy 107	Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure	OMIM:620033
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype...	OMIM:613845
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia	OMIM:232700
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Orthostatic hypotension, Gait disturbance, Neurogenic bla...	OMIM:263570
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Spastic Paraplegia 11, Autosomal Recessive	Ataxia, Degeneration of the lateral corticospinal tracts, Obesity, Tip-toe gait, Agenesis of corp...	OMIM:604360
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul...	ORPHA:2169
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Aplasia/Hypoplasia of the pyramidal tract	OMIM:619602
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Developmental And Epileptic Encephalopathy 30	Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se...	OMIM:616341
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnorma...	ORPHA:100924
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye...	OMIM:618357
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,...	OMIM:619317
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology	OMIM:607641
Unilateral Hemispheric Polymicrogyria	Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Late...	ORPHA:101071
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls, Ventriculomegaly	OMIM:203740
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617270
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a...	OMIM:615369
Episodic Ataxia, Type 5	Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz...	OMIM:613855
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia, Failu...	OMIM:602522
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Nephrogenic Diabetes Insipidus	Failure to thrive, Polydipsia, Hypernatremia, Anorexia	ORPHA:223
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
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
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604352
Spastic Paraplegia 8, Autosomal Dominant	Spastic gait, Degeneration of the lateral corticospinal tracts	OMIM:603563
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Spastic Paraplegia 6, Autosomal Dominant	Spastic gait, Degeneration of the lateral corticospinal tracts	OMIM:600363
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ...	OMIM:231100
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener...	OMIM:619157
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen...	ORPHA:300298
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatosplenomegaly, Decr...	OMIM:609628
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Infantile spasms, Tonic seizure, Focal-onset seizure, Seizure, Difficulty walking, Abnormal repet...	OMIM:617393
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational age, Hyp...	OMIM:601678
Ossification Of The Posterior Longitudinal Ligament Of Spine	Spinal cord compression, Myelopathy	OMIM:602475
Spastic Paraplegia 3, Autosomal Dominant	Spastic gait, Degeneration of the lateral corticospinal tracts	OMIM:182600
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Persisten...	OMIM:617052
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increase...	ORPHA:89938
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Autism, Susceptibility To, X-Linked 2	Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior	OMIM:300495
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Seizure, Self-injurio...	ORPHA:382
Central Diabetes Insipidus	Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive	ORPHA:178029
X-Linked Sideroblastic Anemia	Glucose intolerance, Abnormality of iron homeostasis	ORPHA:75563
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Hjv Or Hamp-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Diabetes mellitus,...	ORPHA:79230
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypochloremia, Hyp...	OMIM:241200
Spastic Paraplegia 7, Autosomal Recessive	Waddling gait, Spastic ataxia, Degeneration of the lateral corticospinal tracts, Dysmetria, Gait ...	OMIM:607259
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Inability to walk...	OMIM:611890
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Myxopapillary Ependymoma	Unsteady gait, Abnormal conus terminalis morphology	ORPHA:251643
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Progressive cerebellar ataxia, Degeneration of the latera...	ORPHA:275872
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Abnormal upper motor neuron m...	ORPHA:35689
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ...	OMIM:617350
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype...	ORPHA:35878
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
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Seizure, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617820
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal spinal cord morphology, Gait disturbance	ORPHA:139578
Webb-Dattani Syndrome	Hypernatremia	OMIM:615926
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Oral-pharyngeal dysp...	ORPHA:208447
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Decreased circulating cortisol level, Hypogly...	ORPHA:199299
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	OMIM:603553
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration, Anemia, Atypical scarring of skin	ORPHA:79273
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia	OMIM:264350
Diarrhea 13	Recurrent hypoglycemia, Hypoalbuminemia	OMIM:620357
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Motor neuron atrophy, Falls, Shuffling gait, Spinocerebellar tract degeneration, Short stepped sh...	ORPHA:412066
Foxg1 Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to walk, Choreoa...	ORPHA:561854
Alg8-Cdg	Hyponatremia, Abnormality of subcutaneous fat tissue, Small for gestational age, Anemia, Camptoda...	ORPHA:79325
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ...	ORPHA:231222
Spastic Paraplegia 4, Autosomal Dominant	Spastic gait, Degeneration of the lateral corticospinal tracts	OMIM:182601
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Clonic seizure, Self-injurious behavior, Seizure, Abnormal repetitive mannerisms	OMIM:615282
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Narp Syndrome	Progressive gait ataxia, Corticospinal tract atrophy, Ataxia	ORPHA:644
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh...	ORPHA:275864
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis	OMIM:612577
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
Microcephaly With Cervical Spine Fusion Anomalies	Spinal cord compression	OMIM:251250
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology, Ataxia, Gait ataxia	OMIM:215470
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia	ORPHA:6
Wolcott-Rallison Syndrome	Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi...	ORPHA:1667
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
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
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Salt craving, Hypoglycemia...	ORPHA:95409
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Pyruvate Dehydrogenase E1-Beta Deficiency	Corticospinal tract hypoplasia, Agenesis of corpus callosum, Ataxia, Decreased body weight	ORPHA:255138
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano...	OMIM:619381
Hemochromatosis, Type 4	Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev...	OMIM:606069
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,...	ORPHA:391673
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Myoclonus, Gait disturb...	OMIM:600795
Mirage Syndrome	Hyponatremia, Hypoglycemia, Thrombocytopenia, Hyperkalemia, Leukopenia, Decreased body weight, Hy...	OMIM:617053
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Loss of ambulation, Amyotrophic lateral sclerosis	OMIM:613435
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Inability to walk, Difficulty walking, Waddling gait	ORPHA:2590
Snakebite Envenomation	Hyponatremia, Pseudobulbar paralysis, Neuromuscular dysphagia, Thrombocytopenia	ORPHA:449285
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Seizures, Benign Familial Neonatal, 1	Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to...	OMIM:121200
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Inability to walk, Seizure, Self-injurious behavior, Bruxism, Abnormal repetitive ...	OMIM:618718
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Hypochloremia, Fai...	ORPHA:90794
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Hyperkalemia, Glycosuria, Failure to thrive, Anemia	ORPHA:97362
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Tonic seizure, Aggressive b...	OMIM:619580
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo...	ORPHA:848
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset...	OMIM:618067
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	OMIM:615637
Whipple Disease	Hyponatremia, Anorexia, Cachexia, Splenomegaly, Insulin resistance, Polydipsia, Anemia	ORPHA:3452
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Addison Disease	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Salt craving, Hypoglycemia...	ORPHA:85138
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Motor tics, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Attention deficit hyperactivity di...	OMIM:619725
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Obesity, Hyperphagia, And Developmental Delay	Seizure, Abnormal repetitive mannerisms, Polyphagia, Generalized non-motor (absence) seizure	OMIM:613886
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231214
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Seizure, Self-injurious behavior, Atten...	OMIM:617695
Adrenomyeloneuropathy	Atrophy/Degeneration involving the corticospinal tracts, Atrophy of the spinal cord, Abnormal spi...	ORPHA:139399
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia, Dysphagia	ORPHA:261250
Aceruloplasminemia	Increased circulating ferritin concentration, Diabetes mellitus, Aceruloplasminemia, Decreased se...	OMIM:604290
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset...	OMIM:610042
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent...	OMIM:615160
Propionic Acidemia	Hypoglycemia, Hyperammonemia	ORPHA:35
Lopes-Maciel-Rodan Syndrome	Unsteady gait, Dysphagia, Seizure, Agitation, Focal impaired awareness seizure, Bruxism, Abnormal...	OMIM:617435
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Focal-onset seizure, ...	ORPHA:168491
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Hyperammonemia	ORPHA:664
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Inability to walk, Seizure, Lateral ventricle dilatation, Abnormal repe...	OMIM:613443
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Focal impaired aware...	OMIM:620292
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron mo...	ORPHA:52430
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Hyperkalemia,...	ORPHA:361
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Hemochromatosis, Type 2B	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron	OMIM:613313
Shigellosis	Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Anorexia, Leukocytosis, Abnormal blood ...	ORPHA:810
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Hydrocephalus, Congenital, X-Linked	Corticospinal tract hypoplasia, Agenesis of corpus callosum	OMIM:307000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616437
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia	ORPHA:173
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Bilateral tonic-clonic seizure with generalized onset, Ataxia, Focal-onset seizure, Myoclonic sei...	OMIM:619092
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking	OMIM:613954
Porphyria Variegata	Hyponatremia, Abnormal circulating porphyrin concentration, Scarring, Anemia	ORPHA:79473
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat...	ORPHA:79096
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Chromosome 3Q29 Deletion Syndrome	Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:609425
Blue Diaper Syndrome	Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio	ORPHA:94086
Shukla-Vernon Syndrome	Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity diso...	OMIM:301029
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic...	OMIM:617600
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:618218
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia	OMIM:306000
Familial Infantile Myoclonic Epilepsy	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb...	ORPHA:352582
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Infantile spasms, Abnormal repetitive mannerisms, Inability to walk, Generalized non-motor (absen...	ORPHA:411986
Pituitary Apoplexy	Hyponatremia, Normochromic anemia, Increased circulating cortisol level, Hypoglycemia	ORPHA:95613
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia	OMIM:620157
Legionnaires Disease	Hyponatremia, Anorexia, Splenomegaly, Cellulitis, Lymphopenia	ORPHA:549
Autism, Susceptibility To, 3	Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior	OMIM:608049
Christianson Syndrome	Generalized-onset seizure, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Abnorm...	ORPHA:85278
Panhypophysitis	Hyponatremia, Normochromic anemia, Decreased circulating cortisol level, Polydipsia	ORPHA:95513
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Neonatal hypoglycemia	ORPHA:90791
Alg12-Cdg	Hyponatremia, Recurrent hypoglycemia, Camptodactyly, B lymphocytopenia, Hypoalbuminemia, Abnormal...	ORPHA:79324
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Ataxia, Seizure, Gait disturbance, Inappropriate laughter, Febrile seizure (within...	OMIM:614104
X-Linked Intellectual Disability, Cantagrel Type	Seizure, Abnormal repetitive mannerisms, Ventriculomegaly	ORPHA:85277
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l...	ORPHA:275761
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology	OMIM:607225
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Gait disturbance	OMIM:221770
Hartsfield Syndrome	Hypernatremia	OMIM:615465
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul...	ORPHA:167
Smith-Magenis Syndrome	Failure to thrive in infancy, Obesity, EEG abnormality, Gait disturbance, Corticospinal tract hyp...	ORPHA:819
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia, Hypoglycemia	ORPHA:90790
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Failure to thrive, ...	ORPHA:293978
Dentici-Novelli Neurodevelopmental Syndrome	Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Abnormal r...	OMIM:619877
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea n...	OMIM:617872
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Obesity, Normochromic anemia	ORPHA:91355
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Adenohypophysitis	Hyponatremia, Normochromic anemia, Decreased circulating cortisol level	ORPHA:95512
Gracile Syndrome	Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ...	ORPHA:53693
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron	OMIM:604250
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Failure to thrive	OMIM:300200
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:619428
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	ORPHA:766
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:616511
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Abnormal spinal cord morphology, Steppage gait, Inability to walk by childhood/adolescence	ORPHA:99947
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Ataxia, Tip-toe gait, Diff...	OMIM:205100
Xq28 (MECP2) duplication	Inability to walk, Gait ataxia, Seizure, Dysphagia, Abnormal repetitive mannerisms	DECIPHER:45
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia	OMIM:612069
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Glycogen Storage Disease Ixb	Hypoglycemia, Hyperuricemia	OMIM:261750
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg...	OMIM:618278
Zinc Deficiency, Transient Neonatal	Decreased serum zinc	OMIM:608118
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Generalized-onset seizure, Gait ataxia, Difficulty walking, Abnormal repetitive...	OMIM:617807
Houge-Janssens Syndrome 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	OMIM:618354
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi...	ORPHA:411634
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Infant Botulism	Hyponatremia, Anorexia, Dysphagia	ORPHA:178478
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology, Gait disturbance, Spastic gait, Gait ataxia	OMIM:601162
Developmental And Epileptic Encephalopathy 64	Inability to walk, Seizure, Self-injurious behavior, Status epilepticus, Bruxism, Abnormal repeti...	OMIM:618004
Amyotrophic Lateral Sclerosis 21	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron m...	OMIM:606070
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105550
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Castleman Disease	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Weight loss, Decreased m...	ORPHA:160
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Polyphagia, Seizure, Self-injurious behavior, Abnormal repetitive manneris...	ORPHA:228402
5Q14.3 Microdeletion Syndrome	Seizure, Abnormal repetitive mannerisms, Ventriculomegaly	ORPHA:228384
Snijders Blok-Campeau Syndrome	Broad-based gait, Infantile spasms, Unsteady gait, Myoclonic seizure, Attention deficit hyperacti...	OMIM:618205
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Abnormal spinal cord morphology, Gait ataxia, Gait disturbance, Abnormal sensory nerve co...	ORPHA:88628
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Aggressiv...	OMIM:300912
Hijazi-Reis Syndrome	Seizure, Abnormal repetitive mannerisms, Gait disturbance	OMIM:301094
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Aggressive behavior, Narcolepsy, Hyperlipidemia, Hyperkalemia, Obesity, Self-injuri...	ORPHA:293987
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia, Dysphagia	OMIM:617913
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphology, Anemia, Atypical...	ORPHA:534
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Seizure, Gait disturbance, Abnormal repetitive mannerisms, Self-m...	ORPHA:457240
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Neurogenic bladder, Infantile spasms, Myoclonic seizure, Dysphagia, Abnormal repetitive mannerisms	ORPHA:572013
Intellectual Developmental Disorder, Autosomal Dominant 34	Abnormal repetitive mannerisms, Broad-based gait, Bilateral tonic-clonic seizure, Bruxism	OMIM:616351
Cystinosis, Nephropathic	Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenom...	OMIM:219800
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Neurogenic bladder, Degeneration of anterior horn cells, ...	ORPHA:276244
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Failure to thrive, Flexion contracture, HbH hemoglobin, Microcytic anemia	ORPHA:98791
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero...	ORPHA:168558
Rabin-Pappas Syndrome	Hyponatremia, Failure to thrive in infancy, Obesity	OMIM:620155
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit...	OMIM:620141
Foix-Alajouanine Syndrome	Hyperintensity of MRI T2 signal of the spinal cord, Myelopathy, Unsteady gait, Spinal cord lesion...	ORPHA:79093
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero...	ORPHA:289548
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria	OMIM:616026
Bile Acid Synthesis Defect, Congenital, 5	Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia	OMIM:616278
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hypocalcemia, Thro...	ORPHA:544482
Japanese Encephalitis	Hyponatremia, Neutrophilia, Elbow flexion contracture, Anorexia	ORPHA:79139
Ritscher-Schinzel Syndrome 4	Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Aggressive behavior, Focal-onset seizure, Mi...	OMIM:619435
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici...	ORPHA:97214
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology	ORPHA:494
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a...	OMIM:619121
Developmental And Epileptic Encephalopathy 2	Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Seizure, Myo...	OMIM:300672
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping	OMIM:617101
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Ataxia, Tonic seizure, Repetitive compulsive behavior, Inability to walk, Generalized non-motor (...	OMIM:300260
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Attention deficit hyperactivity...	ORPHA:64280
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Ataxia, Aggressive behavior, Seizure, Self-injurious behavior, Gait disturbance, Compulsive behav...	OMIM:300986
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Holoprosencephaly	Hyponatremia, Omphalocele, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Congeni...	ORPHA:2162
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:610505
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Seizure, Abnormal temper tantrums, Abnormal repetitive mannerisms	ORPHA:530983
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Focal-onset seizure, Inability to walk, Seizure, Status epilepticus, Dysphagia, Abnormal repetiti...	OMIM:617802
Den Hoed-De Boer-Voisin Syndrome	Ventriculomegaly, Ataxia, Generalized clonic seizure, Focal-onset seizure, Inability to walk, Gen...	OMIM:619229
Rett Syndrome	Inability to walk, Seizure, Gait disturbance, Agitation, Difficulty walking, Abnormal repetitive ...	ORPHA:778
Infantile Liver Failure Syndrome 2	Hypoglycemia, Hyperammonemia	OMIM:616483
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin	ORPHA:423479
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Ataxia, Optic atrophy, Gait disturbance, Loss of ambulation	OMIM:614298
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons	OMIM:253310
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Anorexia, Imbalanced hemoglob...	ORPHA:330015
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia	OMIM:619769
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Agenesis of corpus callosum, Hypoplasia of the pyramidal tract	OMIM:253800
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote...	OMIM:617049
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ...	ORPHA:91500
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Attention deficit hyperactivity disor...	ORPHA:98784
Liver Disease, Severe Congenital	Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci...	OMIM:619991
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit...	ORPHA:247585
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T...	ORPHA:760
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Ventriculom...	OMIM:300486
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia	OMIM:618252
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c	OMIM:616113
Acute Intermittent Porphyria	Hyponatremia, Restlessness, Pseudobulbar paralysis	ORPHA:79276
Spinal Arteriovenous Metameric Syndrome	Abnormal spinal cord morphology, Spinal arteriovenous malformation	ORPHA:53721
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia	OMIM:618314
Familial Dysautonomia	Hyponatremia	ORPHA:1764
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Acute Disseminated Encephalomyelitis	Interictal EEG abnormality, Ataxia, Abnormal spinal cord morphology, EEG with focal slow activity...	ORPHA:83597
X-Linked Cerebral Adrenoleukodystrophy	Ataxia, Myelopathy, Abnormal spinal cord morphology, Inability to walk, Dysmetria, Gait disturban...	ORPHA:139396
Infantile-Onset X-Linked Spinal Muscular Atrophy	Degeneration of anterior horn cells, Abnormal anterior horn cell morphology	ORPHA:1145
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs...	OMIM:619777
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,...	ORPHA:465508
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Steatorrhea, Persistence of hemo...	OMIM:260400
Intellectual Developmental Disorder, Autosomal Recessive 71	Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Childhood Disintegrative Disorder	Seizure, Abnormal repetitive mannerisms	ORPHA:168782
Dietary Iron Overload Disease	Increased circulating ferritin concentration, Elevated transferrin saturation, Diabetes mellitus,...	ORPHA:139507
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Narcolepsy 7	Narcolepsy, Type II diabetes mellitus, Obesity	OMIM:614250
Solitary Bone Cyst	Abnormal spinal cord morphology	ORPHA:83468
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen...	ORPHA:457351
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia	OMIM:613986
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab...	OMIM:616393
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Di...	ORPHA:48818
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology	ORPHA:93941
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Abnormal temper tantrums, A...	ORPHA:449291
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr...	ORPHA:731
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Abnormal repetitive mannerisms, Ataxia	OMIM:610688
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia	ORPHA:99867
Superficial Siderosis	Ataxia, Atrophy of the spinal cord, Abnormal spinal cord morphology, Unsteady gait, Dysmetria, Li...	ORPHA:247245
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Flexion contracture, Abnormal hemoglobin, Anemia	ORPHA:847
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Head-banging, Seizure, Lateral ventricle dilatation, Self-injurious behavior, Atte...	OMIM:619575
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating cortisol level, Small for gestational age, Hypoglycemia, Hype...	OMIM:201750
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin, Umbilical hern...	OMIM:301040
Williams Syndrome	Failure to thrive in infancy, Ataxia, Atrophy/Degeneration involving the corticospinal tracts, Ob...	ORPHA:904
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non...	ORPHA:513456
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Glycosuria, Hypokalemia, Decreased ...	ORPHA:3337
Friedreich Ataxia 2	Abnormality of the spinocerebellar tracts, Abnormality of the dorsal column of the spinal cord, A...	OMIM:601992
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa...	ORPHA:309854
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Myoclonic spasms, ...	ORPHA:447997
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Narcolepsy, Type II diabetes mellitus	OMIM:604121
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Gen...	OMIM:614756
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology	ORPHA:100070
Trichohepatoenteric Syndrome 1	Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis	OMIM:222470
Narcolepsy 3	Narcolepsy	OMIM:609039
Narcolepsy 1	Narcolepsy	OMIM:161400
Niemann-Pick Disease Type C	Bone-marrow foam cells, Aggressive behavior, Splenomegaly, Narcolepsy, Hepatosplenomegaly, Disinh...	ORPHA:646
Nmda Receptor Encephalitis	Generalized-onset seizure, Focal-onset seizure, Hypersexuality, Choreoathetosis, Seizure, Status ...	ORPHA:217253
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Amoebiasis Due To Free-Living Amoebae	Abnormal spinal cord morphology, Ataxia	ORPHA:68
African Trypanosomiasis	Aggressive behavior, Splenomegaly, Narcolepsy, Hepatosplenomegaly, Weight loss, Abnormality of ci...	ORPHA:3385
Syndromic Diarrhea	Abnormality of iron homeostasis	ORPHA:84064
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Narcolepsy	ORPHA:314404
Mosaic Trisomy 20	Abnormal spinal cord morphology	ORPHA:1724
Limb Body Wall Complex	Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida	ORPHA:2369
Primary Sjögren Syndrome	Abnormal spinal cord morphology	ORPHA:289390
Tetrasomy 9P	Abnormal spinal cord morphology	ORPHA:3310
Duane Retraction Syndrome	Seizure, Spina bifida occulta	ORPHA:233
Duane Retraction Syndrome 2		OMIM:604356

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 Chn1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Chn1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.	PloS one (July 2017)	Chn1^{tm1.1(KOMP)Vlcg}	PMC5503261
Defining the transcriptomic landscape of the developing enteric nervous system and its cellular environment.	BMC genomics (April 2017)	Chn1^{tm1.1(KOMP)Vlcg}	PMC5389105

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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
Chn1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Chn1^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice
Chn1^em1(IMPC)J	Exon Deletion	Mice

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: Chn1 MGI:1915674

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Embryo LacZ

X-ray

X-ray

Adult LacZ

Sleep Wake

X-ray

X-ray

X-ray

Eye Morphology

Auditory Brain Stem Response

Electroretinography 2

Human diseases caused by Chn1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data