Gene Summary

Name:
ELMO/CED-12 domain containing 1
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
cardiovascular system phenotype Elmod1tm1b(EUCOMM)Hmgu HOM   Early adult 8.42×10-09
abnormal auditory brainstem response Elmod1tm1b(EUCOMM)Hmgu HOM   Early adult 9.15×10-07
decreased spleen weight Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 7.54×10-05
decreased grip strength Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 1.40×10-05
tremors Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 2.28×10-09
abnormal gait Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 1.01×10-18
abnormal behavior Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 1.92×10-13
increased mean corpuscular volume Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 4.54×10-08
hyperactivity Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased thigmotaxis Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal startle reflex Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 7.28×10-19
decreased B cell number Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 9.72×10-06
increased circulating chloride level Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 9.19×10-07
decreased circulating cholesterol level Elmod1tm1a(EUCOMM)Hmgu HOM   Early adult 9.48×10-06
head bobbing Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 8.33×10-23
decreased large unstained cell number Elmod1tm1b(EUCOMM)Hmgu HOM   Early adult 5.93×10-05
decreased locomotor activity Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 1.60×10-42
increased blood urea nitrogen level Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 7.70×10-06
increased heart weight Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 6.99×10-05
increased startle reflex Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 0.00
decreased leukocyte cell number Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 2.77×10-06
decreased prepulse inhibition Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 2.30×10-20
shortened PQ interval Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 1.77×10-07
increased mean corpuscular hemoglobin Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 6.96×10-07
decreased leukocyte cell number Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 2.44×10-07
increased eosinophil cell number Elmod1tm1b(EUCOMM)Hmgu HOM   Early adult 2.08×10-05
abnormal startle reflex Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 1.98×10-19
decreased prepulse inhibition Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 2.46×10-07
abnormal ear morphology Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 2.17×10-20
abnormal locomotor behavior Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 3.57×10-20
trunk curl Elmod1tm1a(EUCOMM)Hmgu HOM   Early adult 5.42×10-06
trunk curl Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 8.27×10-16
increased circulating alkaline phosphatase level Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 4.29×10-13
decreased circulating glycerol level Elmod1tm1a(EUCOMM)Hmgu HOM   Early adult 7.73×10-05
thrombocytopenia Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 2.63×10-06
tremors Elmod1tm1b(EUCOMM)Hmgu HOM   Early adult 6.14×10-05
increased circulating phosphate level Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 2.28×10-06
decreased total body fat amount Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 9.95×10-07
abnormal gait Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 2.85×10-10
decreased grip strength Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 6.81×10-10
shortened PR interval Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 5.28×10-08
increased heart rate variability Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 1.66×10-15
increased kidney weight Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 7.22×10-06
decreased lymphocyte cell number Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 4.30×10-07
abnormal glucose homeostasis Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 1.07×10-05
decreased startle reflex Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 2.71×10-05
decreased circulating HDL cholesterol level Elmod1tm1a(EUCOMM)Hmgu HOM   Early adult 2.63×10-07
decreased anxiety-related response Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 3.85×10-25
increased blood urea nitrogen level Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 9.54×10-07
increased lean body mass Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 5.94×10-07
impaired pupillary reflex Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 2.25×10-10
abnormal response to tactile stimuli Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 5.98×10-06
increased red blood cell distribution width Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 3.68×10-08
abnormal behavior Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal locomotor activation Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 1.22×10-07
decreased monocyte cell number Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 6.74×10-09

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem 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)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung 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)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid 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 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote Ambiguous
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system 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 50% (1 of 2)
Brain N/A homozygote 66.67% (2 of 3)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 3)
Embryo N/A heterozygote 50% (1 of 2)
Embryo N/A homozygote 66.67% (2 of 3)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 3)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 3)
Forebrain N/A heterozygote 50% (1 of 2)
Forebrain N/A homozygote 66.67% (2 of 3)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 3)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 3)
Head N/A heterozygote 50% (1 of 2)
Head N/A homozygote 66.67% (2 of 3)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 3)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 3)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 3)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 3)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 3)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 3)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 3)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 3)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 3)

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

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

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

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

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

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

17 Images

Echo

M-Mode Images

17 Images

Adult LacZ

LacZ Images Wholemount

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

X-ray

XRay Images Hind Leg and Hip

7 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Elmod1 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Elmod1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Elevated circulating creatine kinas... OMIM:160120
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Anemia, Hypersplenism, Myoclonus, Hypocholesterolemia, Thrombocytopenia, Intention ... OMIM:610539
Optic Atrophy 2
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... OMIM:601369
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Glycogen Storage Disease Ii
Urinary incontinence, Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, In... OMIM:232300
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Difficulty walking, Elevated circulating creatine kinase concentration OMIM:615048
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Dystonia 31
Abnormal posturing, Parkinsonism, Writer's cramp, Leg dystonia, Craniofacial dystonia, Difficulty... OMIM:619565
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Abnormal repetitive mannerisms, Torsion dystonia, Fo... ORPHA:98807
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment, Optic atrophy OMIM:258700
Neuroleptic Malignant Syndrome
Hypotension, Abnormal autonomic nervous system physiology, Elevated circulating creatine kinase c... ORPHA:94093
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Elevated circulating creatine kinase concentration, Focal dystonia, Trem... ORPHA:309169
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Hepatomegaly, Eosinophilia, Impaired oxid... OMIM:226990
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Myoclonic spasms, Ventricular arrhythmia, Calciu... ORPHA:36913
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... OMIM:614561
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Glomerulopathy, Abnormality of the liver, Hyperhomocystinemia, Hyperte... ORPHA:2169
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Combined Oxidative Phosphorylation Deficiency 15
Abnormal pyramidal sign, Ventricular septal defect, Optic atrophy, Optic disc pallor, Wolff-Parki... OMIM:614947
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Abnormality of peripheral nerve conduction, Respiratory paralysis, Shortene... ORPHA:79102
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... ORPHA:75566
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... ORPHA:232
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Eosinophilia, Familial
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor OMIM:617018
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Spasticity, Abnormally low T cell receptor excision circle level, Eosinophilia, Anxiety, Unsteady... OMIM:618092
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Eosinophilia, Hepa... OMIM:607685
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Cardiomyopathy, Familial Hypertrophic, 6
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... OMIM:600858
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Limb dystonia, Upper motor neuron dysfunction, Violent behavior, Frequent falls, D... ORPHA:216873
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Aceruloplasminemia
Blepharospasm, Akinesia, Decreased circulating ceruloplasmin concentration, Decreased serum iron,... ORPHA:48818
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, Enlarged kidney, EEG with burst suppression, ST segment depression... OMIM:261740
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis OMIM:158580
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Cholelithiasis, Conge... ORPHA:3202
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Optic atrophy... ORPHA:137675
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Ataxia, Babinski sign OMIM:611105
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Eyelid myoclonus, Jaundice, Ataxia, Pancytopenia, Hepatomegaly, Increased m... OMIM:613839
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Corticobasal Syndrome
Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, G... ORPHA:454887
Hyperphenylalaninemia, Bh4-Deficient, D
Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia, Hypertonia OMIM:264070
Myopathy, spheroid body
Waddling gait, Tremor, Broad-based gait, Elevated circulating creatine kinase concentration OMIM:182920
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Resting tremor, Akinesia, Rigidity, Inabili... ORPHA:391411
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Acute Myelomonocytic Leukemia
Anemia, Weight loss, Leukocytosis, Eosinophilia, Thrombocytopenia ORPHA:517
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Hypertriglyceridemi... OMIM:615924
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular outflow tract obstruction, Flexion contracture, Fatigable weakness of respirator... ORPHA:365
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Hypermanganesemia, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, L... ORPHA:521406
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... OMIM:619041
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Failure to thrive, Hepatomegaly, Extramedullary hematopoiesi... OMIM:615285
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Gait disturbance, Upper motor neuron dysfunction, Elevated circulating creatin... ORPHA:276435
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Inability to walk, Truncal atax... OMIM:620066
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Hemolytic anemia, EEG abnormality, Choreoathetosis, Ataxia, Reticulocy... OMIM:612126
Intrinsic Factor Deficiency
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... OMIM:261000
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Spasticity, Ankle clonus, Hyperactivity, Inability to walk, Spastic tetraplegia, Babinski sign, A... OMIM:616657
Cinca Syndrome
Anemia, Progressive sensorineural hearing impairment, Hepatosplenomegaly, Lymphadenopathy, Elevat... OMIM:607115
Acute Zonal Occult Outer Retinopathy
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... ORPHA:284454
Malaria
Anemia, Retinopathy, Gait imbalance, Hyperbilirubinemia, Elevated circulating C-reactive protein ... ORPHA:673
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... OMIM:612561
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Spastic ataxia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethionine... OMIM:277410
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Elevated ... ORPHA:308552
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hypertrophic cardiomyopathy... OMIM:613673
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys... OMIM:616053
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal glucose homeostasis, Inability to walk, Fatiguable weakness of proximal limb muscles, El... ORPHA:90117
Huntington Disease-Like 1
Poor fine motor coordination, Gait ataxia, Chorea, Abnormal posturing, Weight loss, EEG abnormali... ORPHA:157941
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Rigidity, Loss of ambulation, Tremor, Thrombocytopenia, Dystonia, Splenomegaly OMIM:615010
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor, Difficulty walking ORPHA:423296
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Elevated proportion of CD4-negativ... OMIM:603909
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Leukopenia, Anemia, Hyperuricemia, Renal salt wasting, Pancytope... OMIM:613845
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hepatic steatosis, Failure to thrive, Increased blood urea nitrogen, Congenital sen... OMIM:617872
Autosomal Dominant Hypocalcemia
Hypotension, Cortical myoclonus, Hyperphosphatemia, Optic atrophy, Anxiety, Writer's cramp, Fatig... ORPHA:428
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Ataxia, Elevated circulating creatine kinase concentration, Loss of ambulation, Tremor... OMIM:614018
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... OMIM:616689
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Cirrhosis, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Persistence of hemoglobin F, Macrocytic anemia, Increase... OMIM:300946
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Flexion contracture, Clumsiness, Elevated circulating creatine kinase concentration, Difficulty w... OMIM:253600
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... OMIM:128230
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine ... ORPHA:99845
Hemorrhagic Fever-Renal Syndrome
Hypotension, Decreased body weight, Acute tubulointerstitial nephritis, Shock, Glomerulonephritis... ORPHA:340
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Basal Ganglia Calcification, Idiopathic, 1
Abnormal circulating calcium concentration, Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, ... OMIM:213600
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Cockayne Syndrome Type 1
Enamel hypoplasia, Anemia, Foot joint contracture, Abnormality of peripheral nerve conduction, Ma... ORPHA:90321
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatosplenomegaly, Splenomegaly, High... ORPHA:231226
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Chorea, Anemia, Optic atrophy, Choreoathetosis, Hemiplegia/hemiparesis, Hyperammonemia, Thrombocy... ORPHA:289916
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait OMIM:616921
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration, Ataxia, Steato... OMIM:615558
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Stepp... OMIM:618387
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Oculomotor apraxia, Spastic dysarthria,... ORPHA:240094
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia, Cerebral ischemia, Vasculitis ORPHA:26137
Drug-Induced Lupus Erythematosus
Anemia, Pericardial effusion, Hematuria, Elevated circulating creatine kinase concentration, Peri... ORPHA:231111
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Pgm3-Cdg
Conductive hearing impairment, T lymphocytopenia, Bone marrow hypocellularity, Eosinophilia, Decr... ORPHA:443811
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Optic atrophy, Paraparesis, Choreoathetosis, Ataxia, Tetraparesis, Hyperammon... ORPHA:27
Spinocerebellar Ataxia Type 27
Gait ataxia, Akinesia, Truncal ataxia, Hand tremor, Limb ataxia, Gait disturbance, Tremor, Diffic... ORPHA:98764
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia ORPHA:157991
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Transient ischemic attack, Microangiopath... OMIM:274150
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH... ORPHA:79443
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Abnormal macular morphology, Increased LDL cholesterol concentrat... OMIM:607616
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... OMIM:618849
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH... ORPHA:94089
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration, Ca... ORPHA:94090
Macrosomia Adiposa Congenita
Obesity, Polyphagia, Large for gestational age, Eosinophilia OMIM:248100
Late-Infantile/Juvenile Krabbe Disease
Upper motor neuron dysfunction, Frequent falls, Difficulty walking, Neuromuscular dysphagia, Spas... ORPHA:206443
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necro... OMIM:618278
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Migraine, Familial Hemiplegic, 1
Hemiparesis, Ataxia, Agitation, Hemiplegia, Tremor, Anxiety OMIM:141500
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Postural tremor, Resting tremor, Parkinsonism, Clumsiness, Rigidity, Akinesia, Freezing of gait, ... OMIM:619911
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Folate Malabsorption, Hereditary
Leukopenia, Neutropenia, Ataxia, Thrombocytopenia, Athetosis, Folate-responsive megaloblastic anemia OMIM:229050
Immunodeficiency 23
Cortical myoclonus, Conductive hearing impairment, Sensorineural hearing impairment, Hemolytic an... OMIM:615816
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Spastic gait, Optic atrophy, Type I ... ORPHA:96180
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Spastic paraplegia,... ORPHA:251282
Guanidinoacetate Methyltransferase Deficiency
Chorea, Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal head movements, Abn... ORPHA:382
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Cirrhosis, Hepatic necrosis, Ataxia, Lymphopenia, Bone marrow hypocellularity... OMIM:127550
Parkinson Disease 17
Resting tremor, Parkinsonism, Rigidity, Akinesia, Tremor, Bradykinesia OMIM:614203
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Chvostek sign, Hypocalcemic seizures, Nephrocalcinosis, Hypocalcemia, Irritabi... OMIM:146200
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Acute myeloid leukemia, Splenomegaly, Myeloid leukemia, Increased basophil count, Ch... ORPHA:98849
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Myoclonus, Hypertension, Membranoproliferative glomerulonephritis, Episodic hemo... ORPHA:251004
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Hyperchloremia, Hyperkalemia OMIM:614492
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Flexion contracture, Camptodactyly, Lacticaciduria, A... OMIM:604273
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Neurodegeneration With Brain Iron Accumulation 7
Increased circulating very long-chain fatty acid concentration, Ataxia, Dysmetria, Tremor, Loss o... OMIM:617916
Roifman Syndrome
Hip contracture, Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Hepato... OMIM:616651
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Choreoathetosis, Hyperphenylalaninemia, Tremor, Hypertonia, Dystonia OMIM:261630
Cherubism
Macular scar, Optic neuropathy, Marcus Gunn pupil OMIM:118400
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor, Optic atrophy, Optic disc pallor OMIM:165300
Eosinophilic Granulomatosis With Polyangiitis
Tubulointerstitial nephritis, Glomerulopathy, Endocarditis, Abnormal pericardium morphology, Weig... ORPHA:183
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Flexion contracture, Inability to walk, Optic atrophy, Hypertrophic cardio... OMIM:617303
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Anemia, Spastic tetraplegia, Hypertonia, Thrombocytopenia, Dystonia OMIM:619302
Eosinophilic Gastroenteritis
Anemia, Weight loss, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... ORPHA:2070
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Spinocerebellar Ataxia Type 37
Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturbance, Tremor, Cogwheel rigidity... ORPHA:363710
Immunodeficiency 88
Eosinophilia OMIM:619630
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH... ORPHA:79444
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Spastic tetraplegia, Hypertonia, Thrombocytopenia, Dystonia OMIM:619301
Diamond-Blackfan Anemia 7
Vesicoureteral reflux, Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fal... OMIM:612562
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Rigidity, Hyperkalemia, Elevated circulating creatine kinase conc... OMIM:145600
Autosomal Dominant Cerebellar Ataxia
Akinesia, Pseudobulbar paralysis, Macular degeneration, Choreoathetosis, Upper motor neuron dysfu... ORPHA:99
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Optic atrophy, Choreoathetosis, Hyperammonemia, Thrombocytopenia, Neutropenia, Dystonia, ... ORPHA:79312
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Aggressive behavior, Abnormal fear/anxiety-related behavior, Shuffling gait, Resti... ORPHA:3077
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Eisenmenger Syndrome
Atrioventricular canal defect, Brain abscess, Aortopulmonary window, Ventricular arrhythmia, Supr... ORPHA:97214
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona... ORPHA:75565
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Hypokalemia, Isothenuria, Distal renal tubular acidosis, Hepatosplenomegaly, Re... OMIM:611590
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Spasticity, Rod-cone dystrophy, Elevated circulating phytanic acid concen... OMIM:614307
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Ankle clonus, Ataxia, Babinski sign, Pancytopenia, Dysmetr... OMIM:159550
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Abnormal posturing, Neutropenia, Methylmalonic acidemia, Hyperho... OMIM:614857
Kufor-Rakeb Syndrome
Spasticity, Akinesia, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism with favorab... OMIM:606693
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
Saccharopinuria
Gait ataxia, Hyperlysinemia, Spastic diplegia, Abnormality of circulating enzyme level, Hyperammo... ORPHA:3124
Cln3 Disease
Aggressive behavior, Urinary bladder sphincter dysfunction, Shuffling gait, Optic atrophy, T-wave... ORPHA:228346
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hepat... OMIM:617610
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Flexion contracture, High-frequency sensorineural hearing impairment, Sensorineur... ORPHA:2590
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... ORPHA:79262
Spinocerebellar Ataxia, Autosomal Recessive 30
Titubation, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Increa... OMIM:619405
Halothane Hepatitis
Hepatitis, Jaundice, Viral hepatitis, Eosinophilia, Obesity OMIM:234350
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Gait disturbance, Mildly elevated creatine kinase, Hyperlipidemia, Tetraplegia, Hype... OMIM:604484
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Myoclonus, Tremor, Depression, Anxiety, Agoraphobia, Alcoholism, Pan... OMIM:159900
Dopa-Responsive Dystonia
Inability to walk, Upper motor neuron dysfunction, Difficulty walking, Arm dystonia, Lethargy, Co... ORPHA:255
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Hypoamylasemia, Impaired neutrophil chemotaxis, Bone marrow hypocellulari... ORPHA:811
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Agitation, Failure to thrive, Tremor, Anxiety, Dystonia, Cardiomyopathy OMIM:619651
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy, Eosinophilia ORPHA:353298
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait OMIM:615768
Omenn Syndrome
Anemia, Nephrotic syndrome, Failure to thrive, Lymphadenopathy, Eosinophilia, Hepatomegaly, Leuko... ORPHA:39041
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Aicardi-Goutieres Syndrome 3
Spasticity, Thrombocytopenia, Dystonia, Hepatosplenomegaly OMIM:610329
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia OMIM:620085
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Chorea, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Ataxia, Elevated circulatin... OMIM:208920
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... ORPHA:98762
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal T-wave, Hyperphosphatemia, Acute kidney injury, Sinus tachycardia, Abnormal... ORPHA:466650
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa... OMIM:617284
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Failure to thrive, Hepatomegaly,... OMIM:615387
Blackfan-Diamond Anemia
Acute myeloid leukemia, Thrombocytopenia, Lethargy, Normochromic anemia, Ventricular septal defec... ORPHA:124
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... OMIM:617519
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Cellulitis, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Mono... ORPHA:486
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Rod-cone dystrophy, Tip-toe gait, Abnormal posturing, Inability to walk, Optic disc p... ORPHA:216866
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, M... OMIM:612925
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Small for gestational age, Hyperbilirubinemia, Erythroid hyperplasia, Reticuloc... OMIM:224120
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Hypermanganesemia With Dystonia 1
Poor fine motor coordination, Hypermanganesemia, Increased total iron binding capacity, Parkinson... OMIM:613280
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Cholelithiasis, Proximal tubulopathy, Cirrhosis, Abnormality of ... ORPHA:231222
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Immunodeficiency 49
T lymphocytopenia, Spastic tetraplegia, Decreased proportion of naive CD4 T cells, Lymphopenia, A... OMIM:617237
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Abnormal circulating histidine concentration,... ORPHA:210128
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... ORPHA:314978
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Peroxisome Biogenesis Disorder 3B
Rod-cone dystrophy, Elevated circulating phytanic acid concentration, Retinal dystrophy, Ataxia, ... OMIM:266510
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Retinal hemorrhage, Acute myeloid leukemia, Abnormal ... ORPHA:86839
Proximal Myopathy With Extrapyramidal Signs
Chorea, Resting tremor, Optic atrophy, Ataxia, Mildly elevated creatine kinase, Progressive extra... ORPHA:401768
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... OMIM:612926
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Dilated cardiomyopathy, Optic nerve hypoplasia, Mitral regurgitation, ... ORPHA:261250
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Babinski sign,... OMIM:128100
Intellectual Developmental Disorder, Autosomal Recessive 48
Aggressive behavior, Macrotia, Inability to walk, Emotional lability, Tremor, Inappropriate laugh... OMIM:616269
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Decreased proportion of CD3-positive T cells, ... ORPHA:331206
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, F... OMIM:603554
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicular ... OMIM:614470
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Elevated circulating creatine kinase concentration, Tremor, Frequent falls, Difficulty... OMIM:159950
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop... OMIM:603552
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Sensorineural hearing impairment, Abnormal mitral valve morphology, Nephrotic syndrome, G... ORPHA:1192
Dystonia 12
Anxiety, Parkinsonism, Torticollis, Emotional lability, Tremor, Depression, Dysphagia, Unsteady g... OMIM:128235
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Renal interstitial fibrosis, Enlarged kidney, Hypersplenism, Jaundice, Hepatocellular ... OMIM:619902
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Spinocerebellar Ataxia Type 21
Gait ataxia, Akinesia, Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressiv... ORPHA:98773
Alveolar Echinococcosis
Pancreatic cysts, Abnormal pericardium morphology, Anemia, Biliary cirrhosis, Weight loss, Hemipa... ORPHA:284
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Hemoglobinuria, Jaundice, Fava bean-induced hemoly... OMIM:300908
Spinocerebellar Ataxia 21
Gait ataxia, Postural tremor, Parkinsonism, Akinesia, Abnormality of extrapyramidal motor functio... OMIM:607454
Atypical Rett Syndrome
Gait ataxia, Spasticity, Limb myoclonus, Inability to walk, EEG abnormality, Apraxia, Inappropria... ORPHA:3095
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia OMIM:600116
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology ORPHA:3319
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... OMIM:612924
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Abnormality of somatosensory evoked potentials, Decreased motor nerve con... ORPHA:206594
Combined Oxidative Phosphorylation Deficiency 45
Cardiac arrest, Ataxia, Failure to thrive, Tremor, Low-set ears OMIM:618951
Beta-Thalassemia Major
Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Sple... ORPHA:231214
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady gait OMIM:617917
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Apathy, Ataxia, Irritability ORPHA:71518
Adult-Onset Autosomal Dominant Leukodystrophy
Flexion contracture, Abnormal auditory evoked potentials, Abnormal autonomic nervous system physi... ORPHA:99027
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Nephrotic syndrome, Lymphocytosis, Decreased propo... ORPHA:911
Scleroderma
Flexion contracture, Fasciitis, Elevated circulating creatine kinase concentration, Pericarditis,... ORPHA:801
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemiparesis, Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, S... OMIM:235400
Hypermanganesemia With Dystonia 2
Hypermanganesemia, Spasticity, Ankle clonus, Tip-toe gait, Inability to walk, Parkinsonism, Limb ... OMIM:617013
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Fraxe Intellectual Disability
Prominent ear helix, Recurrent hand flapping, Stereotypical body rocking, Compulsive behaviors ORPHA:100973
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Decreased glomerular filtratio... OMIM:601198
Rh Deficiency Syndrome
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticu... ORPHA:71275
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... OMIM:108950
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatitis, Lymphopenia, Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T ... ORPHA:169160
Familial Pseudohyperkalemia
Stomatocytosis, Hyperkalemia, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased... ORPHA:90044
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Cerebral Creatine Deficiency Syndrome 2
Rigidity, Paraparesis, Myoclonus, Decreased serum creatinine, Ataxia, Elevated circulating guanid... OMIM:612736
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Blepharospasm, Falls, Akinesia, Parkinsonism, Gait imbalance, Parkinsoni... ORPHA:240071
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abn... ORPHA:85451
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Abnormal pyramidal sign, Gait imbalance, Postural tremor, Oculomotor apraxia, Choreoathetosis, At... ORPHA:64753
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi... OMIM:303110
Spinocerebellar Ataxia 48
Gait ataxia, Urinary incontinence, Chorea, Anxiety, Parkinsonism, Cachexia, Ataxia, Babinski sign... OMIM:618093
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Cerebral vasculitis, Hemiplegia, Eosinophilia, Decreased propo... OMIM:243700
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... OMIM:615234
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Optic atrophy, Elbow flexion contracture, Spastic tetraparesi... OMIM:619470
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor OMIM:607458
Neuroectodermal Melanolysosomal Disease
Spasticity, Optic atrophy, Rigidity, Aplasia/Hypoplasia of the macula, Ataxia, Tremor, Hypertonia... ORPHA:33445
Sporadic Infantile Bilateral Striatal Necrosis
Gait ataxia, Chorea, Abnormal posturing, Resting tremor, Parkinsonism, Titubation, Gait disturban... ORPHA:225147
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Gait ataxia, Spasticity, Shuffling gait, Dysdiadochokinesis, Resting tremor, Parkinsonism, Rigidi... ORPHA:247234
Late-Onset Isolated Acth Deficiency
Hypotension, Hyperuricemia, Hyponatremia, Weight loss, Hepatitis, Normocytic anemia, Hyperkalemia... ORPHA:199299
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Pulmonary hemorrhage, Nephrotic syndrome, Neutrophilia, Membranoprolif... OMIM:619644
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephri... OMIM:304790
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Inability to walk, Optic atrophy, Hepatosplenomegaly, Hypertrophic cardiomyo... ORPHA:505248
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Tetraplegia, Increased VLDL cholesterol concentrat... OMIM:267700
Hyperprolinemia, Type I
Prolinuria, Hyperactivity, Aggressive behavior, EEG abnormality, Ataxia, Hydroxyprolinuria, Hyper... OMIM:239500
Myopathy With Extrapyramidal Signs
Chorea, Hyperlysinemia, Hyperactivity, Ventricular septal defect, Optic atrophy, Clumsiness, Abno... OMIM:615673
Blue Diaper Syndrome
Hyperphosphatemia, Blue urine, Hypercalcemia, Nephrocalcinosis, Increased body weight ORPHA:94086
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Corneal neovascularization, Autoimmune hemolytic anemia, Failure to thrive, El... OMIM:617388
Peroxisome Biogenesis Disorder 5B
Rod-cone dystrophy, Elevated circulating phytanic acid concentration, Oculomotor apraxia, Retinal... OMIM:614867
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... OMIM:602450
Spinocerebellar Ataxia 7
Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Macular degenera... OMIM:164500
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinuria, Hyperlysinemia, Anemia OMIM:238700
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Spasticity, Aggressive behavior, Optic atrophy, Ataxia, Tremor, Abnormal pinna mor... OMIM:300983
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Decreased serum iron, Reticulocytosis, Hemosiderinuria, Dysphagi... ORPHA:447
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Cholestatic liver disease, Weight loss, Splenic ... ORPHA:400
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Spasticity, Abnormal pyramidal sign, Hyperinsulinemia, Limb dystonia, Myoclonus, Ins... ORPHA:363400
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Weight loss, Nephrotic syndrome, Hepatitis, Cardiac arrest, Lymphoc... ORPHA:139402
Majeed Syndrome
Flexion contracture, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume... OMIM:609628
Eosinophilic Fasciitis
Weight loss, Cellulitis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Eosinophilia ORPHA:482
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor, Difficulty walking OMIM:613608
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hemiparesis, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune he... ORPHA:444463
Purine Nucleoside Phosphorylase Deficiency
Spastic diplegia, Recurrent urinary tract infections, Increased circulating inosine concentration... OMIM:613179
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Transient hyperphenylalaninemia, Tremor,... OMIM:612716
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Juvenile Huntington Disease
Gait ataxia, Chorea, Hyperactivity, Weight loss, Rigidity, Myoclonus, Ataxia, Depression, Progres... ORPHA:248111
Immunodeficiency 96
Conjunctival telangiectasia, Multicystic kidney dysplasia, Increased proportion of gamma-delta T ... OMIM:619774
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch... ORPHA:848
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... ORPHA:3261
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Rod-cone dystrophy, Spastic tetraplegia, Limb hypertonia, Optic atrophy, Ataxia, Dysmetria, Tremo... OMIM:617710
Branchiootic Syndrome 1
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... OMIM:602588
Bleeding Disorder, Platelet-Type, 9