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
increased circulating phosphate level Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 2.28×10-06
thrombocytopenia Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 2.63×10-06
trunk curl Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 8.27×10-16
increased blood urea nitrogen level Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 9.54×10-07
tremors Elmod1tm1b(EUCOMM)Hmgu HOM   Early adult 6.14×10-05
abnormal glucose homeostasis Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 1.07×10-05
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
decreased circulating glycerol level Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 7.73×10-05
abnormal gait Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 2.85×10-10
abnormal locomotor activation Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 1.22×10-07
abnormal startle reflex Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 1.98×10-19
increased heart rate variability Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 1.66×10-15
abnormal behavior Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased startle reflex Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 2.71×10-05
increased heart weight Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 6.99×10-05
increased startle reflex Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 0.00
increased red blood cell distribution width Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 3.68×10-08
abnormal startle reflex Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 7.28×10-19
abnormal behavior Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 1.92×10-13
increased lean body mass Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 5.94×10-07
decreased locomotor activity Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 1.60×10-42
increased circulating chloride level Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 9.19×10-07
decreased total body fat amount Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 9.95×10-07
decreased circulating HDL cholesterol level Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 2.63×10-07
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
increased mean corpuscular volume Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 4.54×10-08
trunk curl Elmod1tm1a(EUCOMM)Hmgu HOM   Early adult 5.42×10-06
decreased spleen weight Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 7.54×10-05
tremors Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 2.28×10-09
decreased thigmotaxis Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal locomotor behavior Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 3.57×10-20
abnormal response to tactile stimuli Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 5.98×10-06
abnormal gait Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 1.01×10-18
decreased monocyte cell number Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 6.74×10-09
increased eosinophil cell number Elmod1tm1b(EUCOMM)Hmgu HOM   Early adult 2.08×10-05
increased circulating alkaline phosphatase level Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 4.29×10-13
decreased grip strength Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 1.40×10-05
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
abnormal ear morphology Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 2.17×10-20
decreased prepulse inhibition Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 2.46×10-07
shortened PQ interval Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 1.77×10-07
impaired pupillary reflex Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 2.25×10-10
increased mean corpuscular hemoglobin Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 6.96×10-07
decreased large unstained cell number Elmod1tm1b(EUCOMM)Hmgu HOM   Early adult 5.93×10-05
head bobbing Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 8.33×10-23
hyperactivity Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased kidney weight Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 7.22×10-06
decreased leukocyte cell number Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 2.44×10-07
decreased circulating cholesterol level Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 9.48×10-06
decreased lymphocyte cell number Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 4.30×10-07
increased blood urea nitrogen level Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 7.70×10-06
abnormal iris morphology Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 6.02×10-05
decreased anxiety-related response Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 3.85×10-25
decreased B cell number Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 9.72×10-06

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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

17 Images

X-ray

XRay Images Hind Leg and Hip

7 Images

Adult LacZ

LacZ Images Wholemount

9 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

Echo

M-Mode Images

17 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
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Elevated circulating creati... OMIM:160120
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300425
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Intention tremor, Thrombocytopenia, Splenomegaly, Myoclonus, Hypocholesterolemia, Hypersp... OMIM:610539
Optic Atrophy 2
Optic atrophy, Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Autism
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:209850
Autism, Susceptibility To, 8
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:607373
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Glycogen Storage Disease Ii
Difficulty walking, Wolff-Parkinson-White syndrome, Increased circulating NT-proBNP concentration... OMIM:232300
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer... OMIM:619802
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, Tremor, Ataxia, Slurred speech OMIM:613227
Dystonia 31
Abnormal posturing, Difficulty walking, Leg dystonia, Writer's cramp, Craniofacial dystonia, Arm ... OMIM:619565
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Elevated circulating creatine kinase concentration, Gait atax... ORPHA:309169
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Neuroleptic Malignant Syndrome
Urinary incontinence, Oculogyric crisis, Bradycardia, Myoglobinuria, Chorea, Hypertension, Extrap... ORPHA:94093
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Depression, Myoclonic s... ORPHA:36913
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomeg... OMIM:226990
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Ataxia, Myoclonus, Babinski sign, Depression, Anisocytosis, Weight loss, Dysmetria, Increased ery... OMIM:301310
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Action tremor, Focal dystoni... ORPHA:98807
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Hematuria, Increased mean corpuscular volume, Hypertension, Ventricular septal defect, Pu... OMIM:617021
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpus... ORPHA:2169
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy, Inguinal hernia, I... OMIM:614947
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Aceruloplasminemia
Chorea, Gait ataxia, Aceruloplasminemia, Rigidity, Ataxia, Decreased circulating iron concentrati... ORPHA:48818
Histiocytoid Cardiomyopathy
Corneal opacity, Congenital aphakia, Cardiomegaly, Hemiplegia, Optic atrophy, Failure to thrive, ... ORPHA:137675
Spinocerebellar Ataxia 43
Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Enlarged kidney, Cardiomegaly, Bradycardia, EEG with burst suppression,... OMIM:261740
Loeffler Endocarditis
Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard... ORPHA:75566
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Pseudohypoparathyroidism Type 1B
Irritability, Hypocalcemic seizures, Prolonged QT interval, Low urinary cyclic AMP response to PT... ORPHA:94089
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Thyrotoxic Periodic Paralysis
Hyperkalemia, Paralysis, Transient hypophosphatemia, Prolonged QT interval, Respiratory paralysis... ORPHA:79102
Eosinophilia, Familial
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Thrombocytopenia, Eosinophilia OMIM:131400
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Cellul... OMIM:618986
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, T... OMIM:615924
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigable weakness of respiratory muscles, Difficulty walking, Hepatomegaly, Inability to walk, L... ORPHA:365
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Hyperphenylalaninemia, Tremor, Transient hyperphenylalaninemia OMIM:264070
Cinca Syndrome
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hea... OMIM:607115
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Congenital hem... ORPHA:3202
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megalo... OMIM:613839
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Agitation, Motor stereotypy, Aggressive behavior OMIM:617171
Malaria
Anemia, Gait imbalance, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia... ORPHA:673
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Limb dystonia, Impulsivity, Rigidity, Dysphagia, Clumsiness, Optic atrophy, Irritability,... ORPHA:216873
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Myoclonic spasms, Hypocalcemic tetany... ORPHA:94090
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia ORPHA:517
Cockayne Syndrome Type 1
Hypertension, Ataxia, Optic atrophy, Difficulty walking, Tremor, Hearing impairment, Failure to t... ORPHA:90321
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Inability to walk, Cardiomegaly, Truncal ataxia, ... OMIM:620066
Acute Zonal Occult Outer Retinopathy
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... ORPHA:284454
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Hypertrophic cardiomyopathy, Hearing impairment, Obesity, A... OMIM:620270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Elevated circulating creatine k... ORPHA:276435
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Homocystinuria, M... OMIM:277410
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L... OMIM:603909
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hypertension, Epistaxi... ORPHA:340
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
Intellectual Developmental Disorder, Autosomal Recessive 58
Pica, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:617270
Glut1 Deficiency Syndrome 2
Irritability, Reduced haptoglobin level, Tremor, Reticulocytosis, Dystonia, Ataxia, Splenomegaly,... OMIM:612126
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Unsteady gai... OMIM:616053
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Gait ataxia ORPHA:423296
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia, Spasticity, Unsteady gait OMIM:618092
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu... OMIM:613673
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular outflow tract obstruction, Low-output congestive heart failure, El... ORPHA:308552
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem... OMIM:612561
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Transient hyperphenylalaninemia, Restin... OMIM:128230
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypoglycemia, Pancy... OMIM:617872
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Elevated circulating creatine kinase concentration, Loss of ambulatio... OMIM:614018
Chromosome 15Q11-Q13 Duplication Syndrome
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:608636
Huntington Disease-Like 1
Abnormal posturing, Jerky head movements, Bradykinesia, Depression, Chorea, Incoordination, Poor ... ORPHA:157941
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Pancytopenia, Hyperuricemia, Pulmonary arterial hypertensio... OMIM:613845
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Spasticity, Impulsivity, Gait ataxia, Rigidity, Dystonia, Dysphagia, Clumsiness OMIM:620448
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Epis... OMIM:616216
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Bone Marrow Failure Syndrome 3
Aplastic anemia, Amelogenesis imperfecta, Astigmatism, Anemia, Acute myeloid leukemia, Hyperechog... OMIM:617052
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Anemia, Chorea, Hyperammonemia, Hemiplegia/hemiparesis, Dystonia, Thrombocytopenia... ORPHA:289916
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Inability to walk, Abnormal glucose homeostasis, Tremor, Elevated circulatin... ORPHA:90117
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Difficulty walking, Exercise-induced myoglobinuria, Recurrent ... ORPHA:99845
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Athetosis, Tremor, Gait disturbance, Rigidity, Dystonia... OMIM:213600
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia, Motor stereotypy OMIM:617830
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia, Loss of ambulation, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Gait ataxia, Upper limb postural tremor, A... ORPHA:98769
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Gait ataxia ORPHA:217012
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hepatomegaly, Anemia, Jaundice, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Dominant Beta-Thalassemia
Splenomegaly, Decreased mean corpuscular volume, High-output congestive heart failure, Irritabili... ORPHA:231226
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300495
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Difficulty walking, Facial palsy, Elevated circulating creatine kinase concentration, Flexion con... OMIM:253600
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Hepatomegaly, Jaundice, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Anemia, Jaundice, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Sensorineural hearing impairm... ORPHA:443811
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hypocalcemic seizures, Hypocalcemia, Chvostek sign, Nephrocalcinosis, Cataract, Hyp... OMIM:146200
Stxbp1-Related Encephalopathy
Inability to walk, Hyperactivity, Hypsarrhythmia, Spasticity, Tremor, EEG with focal epileptiform... ORPHA:599373
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Congestive heart failure, Focal EEG discharges with secondary generalizat... ORPHA:3077
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Sensorineural hearing impairment, Hypertension, Irritability, Hypocalcemia... ORPHA:79443
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest... OMIM:615558
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Gait disturbance, Gait ataxia,... ORPHA:98764
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Anorexia, Isothenuria, Hypokalemia, Distal renal tubular acidosis, Reticulocytosis, Failure to th... OMIM:611590
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Tremor, Elevated circulating creatine kinase concentration, Gait ataxia, Ataxia, D... OMIM:618387
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Anemia, Macrocytic anemia, Paraparesis, Hyperammonemia, Ataxia, Thrombocytopenia, ... ORPHA:27
Autosomal Dominant Hypocalcemia
Optic atrophy, Congestive heart failure, Writer's cramp, Fatigable weakness, Cortical myoclonus, ... ORPHA:428
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Melena, Increased mean corpuscular volume, Hyperbi... ORPHA:98870
Late-Infantile/Juvenile Krabbe Disease
Tetraplegia, Ataxia, Clumsiness, Hemiplegia, Irritability, Difficulty walking, Decreased nerve co... ORPHA:206443
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Abnormal dental enamel morphology, Hypertension, Polyphagia, Episodic hemolytic ... ORPHA:251004
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hyperactivity, Tremor, Motor stereotypy, Aggressive behavior OMIM:619470
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Failure to thrive secondary to recurrent infections, Decreased proportion of CD3-positi... ORPHA:169160
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hemato... ORPHA:2070
Sickle Cell Anemia
Ischemic stroke, Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Incr... ORPHA:232
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, Bo... OMIM:607616
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Congestive heart failure, Glomerulopathy, Hematuria, Renal insufficiency, Vasculitis... ORPHA:183
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Inappropriate laughter, Dystonia, Motor stereotypy, EEG abnormality, Bruxism, Aggressive behavior OMIM:619150
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Clumsiness, Freezing of gait, Rigidity, Dystonia, Parkins... OMIM:619911
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Roifman Syndrome
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Noncompaction cardiomyopathy, Hip contract... OMIM:616651
Drug-Induced Lupus Erythematosus
Anemia, Hematuria, Elevated circulating C-reactive protein concentration, Prolonged QTc interval,... ORPHA:231111
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Immunodeficiency 23
Cortical myoclonus, Sensorineural hearing impairment, Myoclonus, Vasculitis in the skin, Conducti... OMIM:615816
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Neurodegeneration With Brain Iron Accumulation 7
Increased circulating very long-chain fatty acid concentration, Lower limb spasticity, Tremor, Dy... OMIM:617916
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Hyperphenylalaninemia, Tremor, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Developmental And Epileptic Encephalopathy 97
Hypsarrhythmia, Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Ravine Syndrome
Anorexia, Abnormal auditory evoked potentials ORPHA:99852
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Hemolytic-uremic syndrome, Tremor, Transient ischemic attack, Reticulocytosis, Increase... OMIM:274150
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Neutropenia, Optic atroph... OMIM:617303
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Conjunctivitis ORPHA:26137
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Low-set ears, Motor stereotypy, Self-injurious behavior, EEG abnormality, ... OMIM:618718
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Irritability, Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Tetrapleg... OMIM:618278
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Limb ataxia, Jerky head movements, Difficulty walking, Babinski sign, Hypertonia, S... ORPHA:251282
Maternal Uniparental Disomy Of Chromosome 4
Spastic gait, Optic atrophy, Chaddock reflex, Elevated circulating creatine kinase concentration,... ORPHA:96180
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Saccharopinuria
Elevated plasma citrulline, Tremor, Hypercystinemia, Hyperlysinemia, Gait ataxia, Hyperammonemia,... ORPHA:3124
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Akinesia, Spastic dysarthria, Gait imbalance, Oculomotor apraxia, Falls, Freezing of gait, Blepha... ORPHA:240094
Migraine, Familial Hemiplegic, 1
Hemiplegia, Hemiparesis, Tremor, Ataxia OMIM:141500
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Athetosis, Thrombocytopenia, Leukopenia, Ataxia, Neutropenia OMIM:229050
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, EEG abnormality, Dystonia, Motor stereotypy OMIM:617820
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hyperchloremia OMIM:614492
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Pseudohypoparathyroidism Type 1C
Irritability, Calcinosis, Hypocalcemic seizures, Prolonged QT interval, Low urinary cyclic AMP re... ORPHA:79444
16Q24.3 Microdeletion Syndrome
Chronic otitis media, Astigmatism, Increased mean corpuscular volume, Optic nerve hypoplasia, Hea... ORPHA:261250
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Tremor, Abnormality of extrapyramidal motor function, Optic disc pallor OMIM:165300
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Failure to th... OMIM:615387
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Hypertonia, Hepatomegaly, Camptodactyly, Renal hypoplasia, Anisocyto... OMIM:604273
Cherubism
Marcus Gunn pupil, Macular scar, Optic neuropathy OMIM:118400
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Anemia, Hyperammonemia, Dystonia, Thrombocytopenia, Splenomegaly, Choreoathetosis,... ORPHA:79312
Roifman Syndrome
Recurrent otitis media, Lymphadenopathy, Noncompaction cardiomyopathy, Hip contracture, Hepatospl... ORPHA:353298
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Anemia, Chronic neutropenia, Dystonia, Thrombocytopenia, Spastic tetraplegia OMIM:619302
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Gait disturbance, Cogwheel rigidity... ORPHA:363710
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear... OMIM:617519
Immunodeficiency 8 With Lymphoproliferation
Attention deficit hyperactivity disorder, Recurrent otitis media, Lymphopenia OMIM:615401
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Inguinal he... OMIM:614857
Diamond-Blackfan Anemia 7
Recurrent otitis media, Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral refl... OMIM:612562
Alpha-Methylacyl-Coa Racemase Deficiency
Increased circulating very long-chain fatty acid concentration, Spasticity, Tremor, Intention tre... OMIM:614307
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Emotional lability, Tremor, Waddling gait, Macrotia, Inappropriate laughter, S... OMIM:616269
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Torticollis, Spasticity, Tremor, Parkinsonism ... OMIM:606693
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Bone... OMIM:127550
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Chronic neutropenia, Dystonia, Thrombocytopenia, Spastic tetraplegia OMIM:619301
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Diamond-Blackfan Anemia
Developmental glaucoma, Normochromic anemia, Microtia, Macrocytic dyserythropoietic anemia, Abnor... ORPHA:124
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Hypotension, Elevated circulating creatine kinase concentration, Rig... OMIM:145600
Ataxia-Pancytopenia Syndrome
Babinski sign, Anemia, Pancytopenia, Ankle clonus, Thrombocytopenia, Ataxia, Unsteady gait, Acute... OMIM:159550
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Jaundice, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Fasciculations, Tetraplegia, Hyperlipidemia, Gait disturbance, Hyperglycemia, Mildly elevated cre... OMIM:604484
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Tremor, Elevated circulating creatine kinase concentration, Titubation,... OMIM:619405
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Cachexia, Splenomegaly, Prolonged QRS ... ORPHA:75565
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Increased total iron binding capacity, Abnormality of extrapyramidal... OMIM:613280
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Abnormal posturing, Inability to walk, Spasticity, Gait disturbance, Optic disc pal... ORPHA:216866
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Unsteady gait, Ankle clonus OMIM:615768
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Eisenmenger Syndrome
Aortopulmonary window, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Right-to-lef... ORPHA:97214
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy... ORPHA:39041
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Dystonia, Hepatosplenomegaly, Spasticity OMIM:610329
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Intention tremor, Gait ataxia, Upper l... ORPHA:101110
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Truncal ataxia, Chorea, Tremor, Elevated circulating creatine ki... OMIM:208920
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Decreased serum creatinine, Progressive e... OMIM:612736
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... ORPHA:98762
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Vocal cord paralysis, Tremor OMIM:158580
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hepatosplenomegaly, Hyperechogenic ki... OMIM:617610
Late-Onset Isolated Acth Deficiency
Anorexia, Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Hyperuricemia, Hypotensi... ORPHA:199299
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Elevated circulating C-rea... OMIM:617388
Immunodeficiency 88
Eosinophilia OMIM:619630
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Agitation, Tremor, Cardiomyopathy, Compulsive behaviors, Failure to thrive, Dystonia, Myoclonus OMIM:619651
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Recurrent otitis media, Keratitis, Joint contracture of the hand OMIM:618523
Hyperprolinemia, Type I
Prolinuria, Hyperactivity, Hyperglycinuria, Ataxia, Hydroxyprolinuria, Motor stereotypy, EEG abno... OMIM:239500
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Acute kidney injury, Prolonged QT interval, Hypocalcemia, Sinus tachycardia, Abnorm... ORPHA:466650
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Cellulitis, Lymphopenia, E... ORPHA:486
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Myopathy With Extrapyramidal Signs
Optic atrophy, Hypervalinemia, Difficulty walking, Hepatomegaly, Hyperactivity, Chorea, Abnormali... OMIM:615673
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Chronic neutropenia, Bone marrow hypocellularity, Abnormal he... ORPHA:811
Urocanic Aciduria
Abnormal circulating histidine concentration, Broad-based gait, Truncal ataxia, Gait ataxia, Acti... ORPHA:210128
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Chorea, Abnormality of extrapyramidal motor function, Athetosis, Progressive extra... ORPHA:382
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Babinski sign, Hypertonia, Oromandibular dystonia, Inability to walk, Writer'... OMIM:128100
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Hypomagnesemia 3, Renal
Polydipsia, Hypertension, Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinin... OMIM:248250
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ... OMIM:224120
Cystinosis
Polydipsia, Hypokalemia, Corneal opacity, Nephropathy, Gait disturbance, Portal hypertension, Fai... ORPHA:213
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Umbilical hernia, ... OMIM:617237
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hand tremor, Recurrent hand flapping, Dysphagia, Motor stereotypy OMIM:617862
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Paroxysmal Nocturnal Hemoglobinuria
Conjunctival icterus, Hypertension, Abnormal erythrocyte enzyme concentration or activity, Reticu... ORPHA:447
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Macrotia, Posteriorly rotated ears, Motor stereotypy, Aggressive beh... OMIM:609425
Spinocerebellar Ataxia 21
Limb ataxia, Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor functio... OMIM:607454
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Increased circula... OMIM:603552
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increase... OMIM:612925
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Ga... ORPHA:98773
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Retinal dystrophy, Elevated circulating phytanic acid concentration, Ataxia, Hypocho... OMIM:266510
Phenylketonuria
Hyperphenylalaninemia, Ataxia, Tremor, Lower limb spasticity ORPHA:716
Alveolar Echinococcosis
Liver abscess, Anemia, Jaundice, Cholangitis, Abnormal bladder morphology, Abnormal spleen morpho... ORPHA:284
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Gai... ORPHA:99027
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Resting tremor, Progressive extrapyramidal muscular rigidity, ... ORPHA:401768
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Anemia, Sensorineural hearing impairment, Hypertension, Tremor, Gait disturbance, Nep... ORPHA:1192
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Failure to thrive, Thrombocytop... OMIM:304790
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Tongue fasciculations, Tremor, Elevated circulating creatine kinase concentra... OMIM:159950
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti... ORPHA:331206
Hypermanganesemia With Dystonia 2
Tip-toe gait, Babinski sign, Bradykinesia, Oromandibular dystonia, Inability to walk, Scissor gai... OMIM:617013
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increase... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increase... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increase... OMIM:612926
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Failure to thrive, Lymph node hypoplasia,... OMIM:602450
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Loss of ambulation, Ataxia, Dysmetria OMIM:617917
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Tubular luminal dilatation, Cirrhosis, Hepatocellular carcinoma, Hyper... OMIM:619902
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Low-set ears, Cardiac arrest, Failure to thrive, Ataxia OMIM:618951
Beta-Thalassemia Intermedia
Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Jaundice, Cholelithiasis, Proximal tubu... ORPHA:231222
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unco... OMIM:300908
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Atypical Rett Syndrome
Pill-rolling tremor, Agitation, Restrictive behavior, Inability to walk, Tongue thrusting, Apraxi... ORPHA:3095
Immunodeficiency 96
Recurrent otitis media, Increased mean corpuscular volume, Conjunctival telangiectasia, Increased... OMIM:619774
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, Abnormal pinna morphology, Tremor, Spasticity, Ataxia, Aggressive b... OMIM:300983
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Generalized lipodystrophy, Hepatomegaly, Hyperactivity, Tetrapar... ORPHA:363400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Hemiparesis, Thrombocytopenia, Mi... OMIM:235400
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin, Abnormal cardiac septum morphology ORPHA:3319
Rh Deficiency Syndrome
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy... ORPHA:71275
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypocalcemia, Hypercalciuria, Nephrolithiasis,... OMIM:601198
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Falls, Progressive extrapyramidal muscula... ORPHA:240071
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased distal sensory nerve action potential, Steppage gait, Difficulty walking, Decreased ner... ORPHA:206594
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo... ORPHA:911
Trichothiodystrophy 6, Nonphotosensitive
Broad-based gait, Microcornea, Bilateral sensorineural hearing impairment, Increased HbA2 hemoglo... OMIM:616943
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Depression, Tremor, Compulsive behaviors, Addictive alcohol use, Myo... OMIM:159900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increase... OMIM:612924
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Hemiparesis, Splenomegaly, ... ORPHA:444463
Beta-Thalassemia Major
Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, High-output con... ORPHA:231214
Pearson Syndrome
Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphology, Ataxia, ... ORPHA:699
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Bone marrow hypocellularity, Abnormal heart morphology, Leukopenia, Hernia, Opti... ORPHA:505248
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Akinesia, Lower limb spasticity, Truncal ataxia, Hyperalaninemia, Optic neuropathy... OMIM:618249
Pseudohypoparathyroidism, Type Ic
Low urinary cyclic AMP response to PTH administration, Hypocalcemia, Enamel hypoplasia, Obesity, ... OMIM:612462
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Resting tremor, Macular degeneration, ... ORPHA:247234
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Wrist flexion contracture, Spastic paraplegia, Ataxia, Bruxism, Babinski sign, Rest... OMIM:300055
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Spasticity, Compulsive behaviors, Cerebral palsy, Phonic tics, Dystonia, Unsteady ... OMIM:301107
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Babinski sign, Bradykinesia, Resting tremor, Progressive extrapyramidal muscu... ORPHA:225147
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hyperammonemia, Cardiomegaly, Elevated circulating creatin... OMIM:608836
Peroxisome Biogenesis Disorder 5B
Retinal dystrophy, Oculomotor apraxia, Tremor, Elevated circulating phytanic acid concentration, ... OMIM:614867
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Hypertonia, Decreased proportion of CD3-... ORPHA:760
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Tremor, Waddling gait, Shuffling gait, Elevated circulating creatine kinase conce... ORPHA:209335
Dystonia 12