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
thrombocytopenia Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 2.63×10-06
increased circulating phosphate level Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 1.20×10-06
tremors Elmod1tm1b(EUCOMM)Hmgu HOM   Early adult 6.18×10-05
abnormal gait Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 2.85×10-10
trunk curl Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 8.46×10-16
decreased circulating HDL cholesterol level Elmod1tm1a(EUCOMM)Hmgu HOM   Early adult 2.63×10-07
decreased circulating glycerol level Elmod1tm1a(EUCOMM)Hmgu HOM   Early adult 7.73×10-05
decreased lymphocyte cell number Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 4.30×10-07
decreased total body fat amount Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 9.95×10-07
increased blood urea nitrogen level Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 9.54×10-07
increased kidney weight Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 7.22×10-06
abnormal behavior Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal ear morphology Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 2.23×10-20
decreased leukocyte cell number Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 2.77×10-06
decreased prepulse inhibition Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 2.46×10-07
abnormal locomotor activation Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 1.22×10-07
decreased leukocyte cell number Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 2.44×10-07
decreased anxiety-related response Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 1.68×10-44
decreased circulating cholesterol level Elmod1tm1a(EUCOMM)Hmgu HOM   Early adult 9.48×10-06
decreased monocyte cell number Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 6.74×10-09
hyperactivity Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased thigmotaxis Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased large unstained cell number Elmod1tm1b(EUCOMM)Hmgu HOM   Early adult 5.93×10-05
head bobbing Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 8.58×10-23
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
shortened PR interval Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 5.28×10-08
decreased spleen weight Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 7.83×10-05
tremors Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 2.28×10-09
abnormal auditory brainstem response Elmod1tm1b(EUCOMM)Hmgu HOM   Early adult 1.24×10-06
decreased grip strength Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 1.40×10-05
increased circulating alkaline phosphatase level Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 4.29×10-13
cardiovascular system phenotype Elmod1tm1b(EUCOMM)Hmgu HOM   Early adult 8.42×10-09
increased red blood cell distribution width Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 3.68×10-08
decreased B cell number Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 9.72×10-06
abnormal behavior Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 1.92×10-13
abnormal locomotor behavior Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 6.00×10-20
increased circulating chloride level Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 9.19×10-07
increased blood urea nitrogen level Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 7.51×10-06
decreased locomotor activity Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 1.50×10-41
increased mean corpuscular hemoglobin Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 6.96×10-07
trunk curl Elmod1tm1a(EUCOMM)Hmgu HOM   Early adult 5.42×10-06
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 lean body mass Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 1.56×10-06
increased startle reflex Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 0.00
abnormal startle reflex Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 7.31×10-19
increased heart rate variability Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 1.66×10-15
decreased startle reflex Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 2.71×10-05
abnormal glucose homeostasis Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 1.07×10-05
abnormal startle reflex Elmod1tm1a(EUCOMM)Hmgu HOM Early adult 1.98×10-19
increased heart weight Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 6.99×10-05
increased eosinophil cell number Elmod1tm1b(EUCOMM)Hmgu HOM   Early adult 2.08×10-05
abnormal gait Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 1.39×10-18
decreased grip strength Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 6.81×10-10
increased mean corpuscular volume Elmod1tm1b(EUCOMM)Hmgu HOM Early adult 4.54×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.0% (0 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 Not available
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 0.0% (0 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 0.71% (4 of 564)
aorta 0.18% (1 of 557)
bone 0.0%
brain 0.87% (5 of 574)
brainstem 0.36% (2 of 556)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 561)
cerebellum 0.54% (3 of 554)
cerebral cortex 0.18% (1 of 560)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 564)
hippocampus 0.36% (2 of 558)
hypothalamus 0.35% (2 of 565)
kidney 4.61% (26 of 564)
large intestine 5.58% (31 of 556)
liver 0.0%
lower urinary tract 0.18% (1 of 560)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 557)
mammary gland 0.0%
olfactory lobe 0.36% (2 of 554)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.87% (5 of 574)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 569)
peyers patch 0.0%
pituitary gland 0.18% (1 of 558)
prostate gland 1.96% (11 of 561)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 5.65% (31 of 549)
spinal cord 0.36% (2 of 558)
spleen 0.36% (2 of 550)
stomach 3.74% (21 of 561)
striatum 0.53% (3 of 563)
testis 1.08% (6 of 553)
thymus 0.18% (1 of 553)
thyroid gland 3.18% (18 of 566)
trachea 0.54% (3 of 557)
uterus 0.35% (2 of 566)
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 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

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

Echo

M-Mode Images

17 Images

X-ray

XRay Images Hind Leg and Hip

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

Embryo LacZ

LacZ images wholemount

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

17 Images

Adult LacZ

LacZ Images Wholemount

9 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, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Episodic Ataxia, Type 1
Babinski sign, Elevated circulating creatine kinase concentration, Tremor, Incoordination, Spasti... OMIM:160120
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Intention tremor, Myoclonus, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersp... OMIM:610539
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Optic Atrophy 2
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Splenomegaly, Sinus tachycard... OMIM:232300
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Elevated circulating creatine kinase concentration, Difficulty walking OMIM:615048
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal p... OMIM:619565
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Hypocalcemia, Laryngeal dystonia, Depression, Anxiety, Myoclo... ORPHA:36913
Neuroleptic Malignant Syndrome
Extrapyramidal muscular rigidity, Chorea, Tremor, Proteinuria, Hyperuricemia, Oculogyric crisis, ... ORPHA:94093
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Abnormality of the liver, Neutropenia, Lowe... ORPHA:2169
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance OMIM:300660
Loeffler Endocarditis
Right bundle branch block, Pericarditis, Weight loss, Myocardial fibrosis, Abnormal morphology of... ORPHA:75566
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Respiratory paralysis, Transient hypophosphatemia, Palpitat... ORPHA:79102
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia OMIM:131400
Aceruloplasminemia
Increased circulating ferritin concentration, Ataxia, Retinal degeneration, Limb ataxia, Macular ... ORPHA:48818
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Laryngeal dystonia, Depression, Anxiety, Myoclonic spasms, Enamel hypoplasia, Hypoc... ORPHA:94089
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Ravine Syndrome
Ataxia, Spasticity, Abnormal auditory evoked potentials ORPHA:99852
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Histiocytoid Cardiomyopathy
Hemiplegia, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Failure to thrive, Hepa... ORPHA:137675
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Anxiety, Spasticity, Unsteady gait OMIM:618092
Pseudohypoparathyroidism Type 2
Hypocalcemia, Laryngeal dystonia, Myoclonic spasms, Hypocalcemic tetany, Hyperphosphatemia, Prolo... ORPHA:94090
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... ORPHA:320401
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Spastic ataxia, Hypomethioninemia, Methy... OMIM:277410
Glut1 Deficiency Syndrome 2
Ataxia, EEG abnormality, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptogl... OMIM:612126
Autism, Susceptibility To, X-Linked 3
Motor stereotypy, EEG abnormality OMIM:300496
Autism, Susceptibility To, X-Linked 1
Motor stereotypy, EEG abnormality OMIM:300425
Autism
Motor stereotypy, EEG abnormality OMIM:209850
Autism, Susceptibility To, 8
Motor stereotypy, EEG abnormality OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, EEG abnormality OMIM:608636
Myopathy, Spheroid Body
Broad-based gait, Tremor, Elevated circulating creatine kinase concentration, Waddling gait OMIM:182920
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Cellulitis, Abnormally low T cell receptor excision circle level, Hepat... OMIM:618986
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Spastic diplegia, Motor stereotypy, Hypsarrhythmia OMIM:617830
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Ankle clonus, Babinski sign, Spasticity, Spastic tetraplegia, A... OMIM:616657
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia, Tremor, Spasticit... OMIM:615924
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Inability to walk, Atrial septal de... OMIM:620066
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor OMIM:264070
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... ORPHA:521406
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... ORPHA:454887
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Papilledema, Anemia, Eosinop... OMIM:607115
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Elevated circulating creatine kinase concentration, Limb fasciculations, Tremo... ORPHA:90117
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Atrial septal defect, Persistence of hemogl... OMIM:612561
Hyperlysinemia, Type I
Anemia, Hyperlysinemia, Hyperactivity OMIM:238700
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Glycogen Storage Disease Due To Acid Maltase Deficiency
Failure to thrive, Inability to walk, Transient ischemic attack, Hepatomegaly, Flexion contractur... ORPHA:365
Malaria
Gait imbalance, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Retino... ORPHA:673
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... OMIM:613673
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Hepatomegaly, Oligosacchariduria, Left ventricular outflow tract obstruction, ... ORPHA:308552
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Impulsivity, Irritability, Depression, Focal dystonia, Abnorm... ORPHA:216873
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Clumsiness, Flexion contracture, Eosinophilia, Elevated circulating creatine kinase concentration... OMIM:253600
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Cortical myoclonus, Hypocalcemia, Depression, Anxiety, Fatigable weakness, Arrhyt... ORPHA:428
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Elevated circulating creatine kinase concentration, Fasciculations, Gait distu... ORPHA:276435
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Stepp... OMIM:618387
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... OMIM:616689
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Scarring, Increased blood urea nitrogen, Hepatomegal... ORPHA:90321
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Paroxysmal dyskinesia, Dyst... OMIM:619150
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... ORPHA:86841
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Myoclonus, Elevated circulating creatine kinase concentration, Tremor... OMIM:614018
Hypobetalipoproteinemia, Familial, 1
Ataxia, Retinal degeneration, Rod-cone dystrophy, Steatorrhea, Decreased HDL cholesterol concentr... OMIM:615558
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Arrhythmia, Oliguria, Difficulty walking, Hype... ORPHA:99845
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Omenn Syndrome
Failure to thrive, Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the t... OMIM:603554
Thrombotic Thrombocytopenic Purpura, Hereditary
Transient ischemic attack, Increased blood urea nitrogen, Abnormal renal physiology, Schistocytos... OMIM:274150
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Incr... ORPHA:98870
Basal Ganglia Calcification, Idiopathic, 1
Abnormal circulating calcium concentration, Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal ... OMIM:213600
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Abnormality of iron homeostasis, Jaundice, Failu... ORPHA:231226
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:616860
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Pgm3-Cdg
Ataxia, Abnormal proportion of CD8-positive T cells, Vasculitis in the skin, Bone marrow hypocell... ORPHA:443811
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Huntington Disease-Like 1
EEG abnormality, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, Depression, S... ORPHA:157941
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Hematuria, Elevated circulating creatinine concentr... ORPHA:340
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hemiplegia/hemiparesis, Hyperammonemia, Chorea, Optic atrophy, Choreoathetosis, Neutropenia, Anem... ORPHA:289916
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Glutathionuria
Tremor OMIM:231950
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Failure to thrive, Hepatocellular necrosis, Hepatomegaly, Tetr... OMIM:618278
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Ataxia, Hyperammonemia, Leukopenia, Tetraparesis, Macrocytic anemia, Optic atrophy, ... ORPHA:27
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Postural tremor, Thrombocytopenia OMIM:254900
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Irritability, Chvostek sign, Hyperphosphatemia, Nephrocalcinosis, Hypocalcemic seiz... OMIM:146200
Folate Malabsorption, Hereditary
Ataxia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Maternal Uniparental Disomy Of Chromosome 4
Ataxia, Dysmetria, Rod-cone dystrophy, Abetalipoproteinemia, Elevated circulating creatine kinase... ORPHA:96180
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Hemiplegia, Ataxia, Upper motor neuron dysfunctio... ORPHA:206443
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hypertonia, Failure to thrive, Hepatomegaly, Aminoaciduria, Flexion contracture, Anisocytosis, Ca... OMIM:604273
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Abnormal macular m... OMIM:607616
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... ORPHA:98764
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ataxia, Abnormal pyramidal sign, Optic atrophy, Tremor, Ventricul... OMIM:614947
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Immunodeficiency 7
Failure to thrive, Lymphadenopathy, Hypereosinophilia OMIM:615387
Immunodeficiency 23
Sensorineural hearing impairment, Conductive hearing impairment, Ataxia, Cortical myoclonus, Lymp... OMIM:615816
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Head tremor, Spastic dysarthria, Optic atrophy, Gait ataxia, Cochl... ORPHA:95433
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Parkinso... ORPHA:3077
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, EEG abnormality, Involuntary movements, Spasticity, Dystonia OMIM:617820
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Pseudohypoparathyroidism Type 1A
Sensorineural hearing impairment, Hypocalcemia, Laryngeal dystonia, Depression, Anxiety, Myocloni... ORPHA:79443
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Hepatomegaly, Enlarged kidney, Optic atrophy, Thrombocytopenia, Proteinuria, B... OMIM:617303
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Rigidity, Hemolytic anemia, Tremor, Dystonia OMIM:615010
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... ORPHA:169154
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Biventricular hypertrophy, Bradycardia, Cardiomyopathy, Cardi... OMIM:261740
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidity, Parkinsonism, Pos... OMIM:619911
Roifman Syndrome
Hip contracture, Hepatomegaly, Splenomegaly, Eosinophilia, Ventricular septal defect, Noncompacti... OMIM:616651
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Immunodeficiency 40
Lymphopenia OMIM:616433
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Rigidity, Elevated circulating creatine kinase concentration, Hypotension, Myoglobin... OMIM:145600
Cherubism
Optic neuropathy, Macular scar, Marcus Gunn pupil OMIM:118400
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Progressive sensorineural... OMIM:125250
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Myoclonus, Membr... ORPHA:251004
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of Fallot, Macrocytic... OMIM:612562
Hyperprolinemia, Type I
Motor stereotypy, Hydroxyprolinuria, Ataxia, EEG abnormality, Hyperactivity, Hyperglycinuria, Pro... OMIM:239500
Immunodeficiency 88
Eosinophilia OMIM:619630
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Depression, Myoclonus, Anxiety, Parkinsonism, Inappropriate behavior, Rigidity, Chorea, T... ORPHA:401901
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Hyperphenylalaninemia, Dystonia OMIM:261630
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Optic at... OMIM:270500
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Elevated circulating C-reactive protein concentrati... ORPHA:97214
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Tremor, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... ORPHA:363710
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, EEG abnormality, Dystonia, Chorea OMIM:618760
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Broad-based gait, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior, El... OMIM:619470
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... ORPHA:251282
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Failure to thrive, Hypokalemia, Hepatosplenomegaly, Hemolytic ... OMIM:611590
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Eosinophilic Granulomatosis With Polyangiitis
Hemiplegia/hemiparesis, Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Eos... ORPHA:183
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Loss of ambulation, Blepharospasm, Freezing of gait, Spastic dysarthria... ORPHA:240094
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Neutropenia, Dysmetria, Acute myelomonocytic leukemia, Ankle clonus, ... OMIM:159550
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Aplastic anemia, Macrocytic anemia, Pancreatic h... ORPHA:811
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Atrial septal defect, Inguinal hernia, Elevated circulating propionylcarnitine... OMIM:614857
Roifman Syndrome
Hip contracture, Eosinophilia, Hepatosplenomegaly, Noncompaction cardiomyopathy, Lymphadenopathy ORPHA:353298
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Halothane Hepatitis
Viral hepatitis, Eosinophilia, Hepatitis, Obesity, Jaundice OMIM:234350
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hyperammonemia, Optic atrophy, Choreoathetosis, Neutropenia, Anemia, Thrombocytopen... ORPHA:79312
Omenn Syndrome
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Ab... ORPHA:39041
Exercise-Induced Malignant Hyperthermia
Ataxia, Hypocalcemia, Abnormal pulse pressure, Abnormal T-wave, ST segment depression, Elevated c... ORPHA:466650
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Dysmetria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, ... OMIM:619405
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Laryngeal dystonia, Depression, Anxiety, Myoclonic spasms, Enamel hypoplasia, Hypoc... ORPHA:79444
Saccharopinuria
Hyperlysinemia, Hyperammonemia, Spastic diplegia, Tremor, Abnormality of circulating enzyme level... ORPHA:3124
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Eosinophilia OMIM:248100
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Ataxia, Tremor, Low-set ears, Cardiac arrest OMIM:618951
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Blackfan-Diamond Anemia
Ventricular septal defect, Horseshoe kidney, Reticulocytopenia, Abnormal heart morphology, Increa... ORPHA:124
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait OMIM:615768
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Sensorineural hearing impairment, Hypertonia, Abnormal mitral valve morphology, Nephrotic syndrom... ORPHA:1192
Immunodeficiency 49
Lymphopenia, Eosinophilia, Spastic tetraplegia, Umbilical hernia, Posteriorly rotated ears OMIM:617237
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Failure to thrive, Flexion contracture, Difficulty walking, Spasticity, Irritab... OMIM:617393
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Retinal degeneration, Macular deg... ORPHA:99
Alveolar Echinococcosis
Cutaneous abscess, Abnormality of bladder morphology, Ataxia, Budd-Chiari syndrome, Abnormal peri... ORPHA:284
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hemolytic-uremic syndrome, Hematuria, Elevated circulating creatin... OMIM:612925
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Aicardi-Goutieres Syndrome 3
Dystonia, Hepatosplenomegaly, Thrombocytopenia, Spasticity OMIM:610329
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Polycythemia, Abnormality of ext... OMIM:613280
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... ORPHA:206594
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Elevated circulating creatine kinase concentration, Trun... OMIM:208920
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Chronic neutropenia, Spastic tetraplegia, Thrombocytopenia, Dystonia OMIM:619301
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, S... OMIM:224120
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Rod-cone dystrophy, Intention tremor, Hemiparesis, Pigmentary retinopathy, Tremor, Elevat... OMIM:614307
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, EEG abnormality, Hyperkinetic movements, Choreoathetosis, Involuntary m... OMIM:618218
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Chronic neutropenia, Spastic tetraplegia, Anemia, Thrombocytopenia, Dystonia OMIM:619302
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Palpitations, Abnormal mean corpuscular volume, Re... ORPHA:86839
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hematochezia, ... ORPHA:2070
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance, Optic atrophy OMIM:210000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hemolytic-uremic syndrome, Hematuria, Elevated circulating creatin... OMIM:612922
Dopa-Responsive Dystonia
Agoraphobia, Inability to walk, Tremor, Difficulty walking, Emotional lability, Dystonia, Slurred... ORPHA:255
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptifo... ORPHA:88616
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Abnormal circulating histidine concentra... ORPHA:210128
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Cellulitis, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia... ORPHA:486
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... OMIM:614470
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Opisthotonus, Tip-toe gait, Rod-cone dystrophy, Pigmentary retinopathy, Freque... ORPHA:216866
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Depression, Myoclonus, Babinski sign, Tremor, Emotional lability, Abnormality of extrapyr... OMIM:615362
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatomegaly, Eosinophilia, Hepatosplenome... ORPHA:331206
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, High-output c... ORPHA:231222
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Scleroderma
Brachial plexus neuropathy, Myocarditis, Transient ischemic attack, Pericarditis, Flexion contrac... ORPHA:801
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Hemiparesis, Schistocytosis, Anuria, Elevated circ... OMIM:235400
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hemolytic-uremic syndrome, Hematuria, Elevated circulating creatin... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hemolytic-uremic syndrome, Hematuria, Elevated circulating creatin... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hemolytic-uremic syndrome, Hematuria, Elevated circulating creatin... OMIM:612926
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Gait atax... OMIM:609425
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Babinski sign,... OMIM:128100
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Immunodeficiency 19
Failure to thrive, Lymphopenia OMIM:615617
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... ORPHA:231214
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia, Irritability OMIM:239350
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Clumsiness, Bradykinesia, Inability to walk, Opisthotonus, Tip-toe gait, ... OMIM:617013
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Hyperphenylala... OMIM:261640
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Intellectual Developmental Disorder, X-Linked 104
Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior, Spa... OMIM:300983
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Protruding ear, Optic nerve hypoplasia, Mitral regurgitation, ... ORPHA:261250
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Abnormality of extrapyramidal motor function, Cho... ORPHA:382
N-Acetylaspartate Deficiency
Motor stereotypy, Decreased body weight, Inguinal hernia, Self-mutilation, Truncal ataxia, Unstea... OMIM:614063
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Nephrotic syndrome, Lymphocytosis, Abnormality of the lymph nodes, Eosinophili... ORPHA:911
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Hand tremor, Gait disturbance, Mildly elevated creatine kinase, Fasciculations, T... OMIM:604484
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Hemiplegia, Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Decreased proportion of C... OMIM:243700
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Macrotia ORPHA:397933
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Hypertension, Retic... ORPHA:90044
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Hepatitis, Failure to thrive secondary to recurren... ORPHA:169160
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Ma... ORPHA:71275
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Abnormal autonomi... ORPHA:85451
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Anxiety, Tremor, Dystonia, Cardiomyopathy OMIM:619651
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Elevated circulating guanidinoacetic acid concentration, Myoclon... OMIM:612736
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Ataxia, Clumsiness, Hyperlysinemia, Hypervalinemia, Leukocyto... OMIM:615673
Dystonia 12
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional la... OMIM:128235
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyram... ORPHA:98773
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... ORPHA:401768
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Peroxisome Biogenesis Disorder 5B
Ataxia, Dysmetria, Rod-cone dystrophy, Retinal dystrophy, Tremor, Elevated levels of phytanic aci... OMIM:614867
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Progressive cerebellar ataxia, Limb ataxia, Intention tremor, Abnormality of ex... OMIM:607454
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemiparesis, Hemolytic anemia, Hepatitis,... ORPHA:444463
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... OMIM:601198
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Ataxia, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Spl... OMIM:613179
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Heparan sulfate excretion in urine, Enlarged kidney, Optic atrophy, Thrombocyt... ORPHA:505248
3-Methylglutaconic Aciduria, Type Viii
Sensorineural hearing impairment, Hypertonia, Tremor, 3-Methylglutaconic aciduria, Neutropenia, D... OMIM:617248
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Atypical Rett Syndrome
Loss of ambulation, EEG abnormality, Inability to walk, Inappropriate crying, Hand apraxia, Pill-... ORPHA:3095
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination OMIM:213200
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Depression,... ORPHA:248111
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Urinary re... ORPHA:99027
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Rigidity, Optic atrophy, Tremor, Spasticity, Aplasia/Hypoplasia of the macula... ORPHA:33445
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Neu... OMIM:619644
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, H... OMIM:304790
O'Sullivan-Mcleod Syndrome
Tremor, Eosinophilia, Fasciculations ORPHA:99965
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, EEG abnormality, Self-injurious behavior, Inability to walk, Hyperactivity, Tre... OMIM:618718
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine ORPHA:94086
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Ataxia, Reduced intraabdominal adipose tissue, Hyperactivity... ORPHA:363400