Gene Summary

Name:
vacuolar protein sorting 4A
Synonyms:
4930589C15Rik

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
protruding tongue Vps4atm1b(EUCOMM)Hmgu HOM E18.5 0.00
enlarged spleen Vps4atm1b(EUCOMM)Hmgu HET Early adult 0.00
unresponsive to tactile stimuli Vps4atm1b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal skin morphology Vps4atm1b(EUCOMM)Hmgu HET Early adult 0.00
tremors Vps4atm1b(EUCOMM)Hmgu HET   Early adult 4.56×10-05
cataract Vps4atm1b(EUCOMM)Hmgu HET   Early adult 4.77×10-05
abnormal lens morphology Vps4atm1b(EUCOMM)Hmgu HET   Early adult 2.43×10-05
unresponsive to tactile stimuli Vps4atm1b(EUCOMM)Hmgu HET E18.5 0.00
abnormal body wall morphology Vps4atm1b(EUCOMM)Hmgu HOM E18.5 0.00
increased spleen weight Vps4atm1b(EUCOMM)Hmgu HET Early adult 3.94×10-10
preweaning lethality, complete penetrance Vps4atm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal embryo size Vps4atm1b(EUCOMM)Hmgu HOM E18.5 0.00

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
Adrenal gland  Wholemount images heterozygote 0.0% (0 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote Ambiguous
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 50% (1 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote Ambiguous
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote Not available
Skeletal muscle  Wholemount images heterozygote 0.0% (0 of 2)
Skin  Wholemount images heterozygote Ambiguous
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 0.0% (0 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Trigeminal V nerve  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Liver 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)
Peyer's patch 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)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland 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
Heart atrium N/A heterozygote 100% (2 of 2)
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 100% (2 of 2)
Mesonephros of male N/A heterozygote 100% (2 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
Pharynx N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
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)
atrium 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 511)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 511)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 511)
heart ventricle 1.67% (1 of 60)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 506)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 511)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 506)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

4 Images

MicroCT E18.5

Embryo reconstruction

6 Images

Eye Morphology

VIP of right eye

14 Images

Eye Morphology

VIP of left eye

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

4 Images

Adult LacZ

LacZ Images Wholemount

23 Images

X-ray

XRay Images Skull Lateral Orientation

4 Images

Eye Morphology

VIP of left fundus

14 Images

Eye Morphology

VIP of right fundus

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

X-ray

XRay Images Forepaw

4 Images

Embryo LacZ

LacZ images wholemount

4 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Vps4a 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.

The table below shows human diseases associated to Vps4a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cimdag Syndrome
Chorea, Spasticity, Microvesicular hepatic steatosis, Developmental cataract, Ataxia, Hepatomegal... OMIM:619273

The table below shows human diseases predicted to be associated to Vps4a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Spastic Paraparesis And Deafness
Spastic paraparesis, Cataract, Tremor OMIM:312910
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Ataxia, Splenomegaly, Hepatomegaly ORPHA:2274
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Poirier-Bienvenu Neurodevelopmental Syndrome
Open mouth, Downturned corners of mouth, Protruding tongue, Smooth philtrum OMIM:618732
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Cataract, Limb ataxia, Spastic gait OMIM:617133
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Aniridia 3
Cataract OMIM:617142
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Chorea, Remitting, With Nystagmus And Cataract
Chorea, Cataract OMIM:601372
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Cataract, Tremor OMIM:165300
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Cataract 11, Multiple Types
Chorea, Cataract, Developmental cataract, Hypertonia OMIM:610623
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Autosomal Recessive Spastic Paraplegia Type 69
Progressive spastic paraplegia, Spastic dysarthria, Hand tremor, Cataract, Lower limb spasticity ORPHA:401830
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Cataract 42
Cataract, Developmental cataract OMIM:115900
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Dysequilibrium Syndrome
Ataxia, Cataract, Cerebral palsy ORPHA:1766
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract, Spastic tetraplegia OMIM:615412
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Cataract, Hemiplegia/hemiparesis, Ataxia ORPHA:2815
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Hemipl... OMIM:614561
Nathalie Syndrome
Cataract ORPHA:2663
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Trichomegaly
Cataract OMIM:190330
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Limb dystonia, Hand tremor, Torsion dystonia, Focal dystonia, Prot... ORPHA:53351
Pierre Robin Syndrome
Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:261800
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Dystonia, Splenomegaly, Hepatomegaly ORPHA:139406
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor OMIM:617018
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
X-Linked Retinoschisis
Cataract ORPHA:792
Combined Saposin Deficiency
Myoclonus, Babinski sign, Hepatomegaly, Hyperkinetic movements, Splenomegaly, Fasciculations OMIM:611721
Galactose Epimerase Deficiency
Jaundice, Cataract, Splenomegaly, Hepatomegaly ORPHA:79238
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Ataxia, Babinski sign OMIM:611105
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Cataract, Tremor, Ataxia OMIM:278780
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Pierre Robin Sequence With Facial And Digital Anomalies
Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:311895
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... OMIM:616053
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Submucous cleft hard palate, Inguinal hernia, Protruding tongue, Dental ... OMIM:618106
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations ORPHA:309169
Cataract-Ataxia-Deafness Syndrome
Ataxia, Tremor, Developmental cataract, Hypertonia ORPHA:1368
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Torticollis, Myoclonus, Astigmatism, Tremor, Craniofacial dystonia, Lary... OMIM:617284
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Protruding tongue, Alveolar ridge overgrowth, Thin vermilion border, Cleft palate, I... OMIM:612938
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Hepatomegaly, Dystonia OMIM:615924
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements OMIM:616921
Down Syndrome
Narrow palate, Thick lower lip vermilion, Microdontia, Aganglionic megacolon, Macroglossia, Anal ... ORPHA:870
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Choreoathetosis, Reticulocytosis, Ataxia, Tremor, Dystonia, Splenomegaly OMIM:612126
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... OMIM:128230
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Rigidity, Iris hypoperfus... OMIM:177650
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Tremor, Hereditary Essential, 4
Action tremor, Postural tremor OMIM:614782
Spinocerebellar Ataxia, Autosomal Recessive 21
Gait ataxia, Hepatic fibrosis, Spasticity, Limb ataxia, Hepatic bridging fibrosis, Tremor, Freque... OMIM:616719
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Acrocallosal Syndrome
Everted upper lip vermilion, Bifid uvula, Abnormal oral frenulum morphology, Smooth philtrum, Cle... OMIM:200990
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Abnormality of the liver, Hemiparesis, Ataxia, Cataract, Tremor, Intention tremor OMIM:614307
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Rigidity, Tremor, Hepatomegaly, Thrombocytopenia, Dystonia, Splenomegaly OMIM:615010
Angelman Syndrome
Wide mouth, Widely spaced teeth, Macroglossia, Protruding tongue, Limb tremor OMIM:105830
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Dystonia, Frequent falls OMIM:619647
Mevalonic Aciduria
Cataract, Splenomegaly, Ataxia ORPHA:29
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Hemiparesis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune he... ORPHA:444463
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... ORPHA:79262
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Hemiballismus, Frequent falls ORPHA:494526
Congenital Disorder Of Glycosylation, Type Iia
Wide mouth, Diastema, Everted lower lip vermilion, Protruding tongue, Thin vermilion border, Open... OMIM:212066
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Juvenile Sialidosis Type 2
Inguinal hernia, Protruding tongue, Gingival overgrowth, Umbilical hernia ORPHA:93399
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Protruding tongue, Wide mouth, Widely spaced teeth ORPHA:98795
Icf Syndrome
Malabsorption, Protruding tongue, Macroglossia, Umbilical hernia ORPHA:2268
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Cataract, Hepatomegaly OMIM:614876
Spastic Paraplegia 46, Autosomal Recessive
Ankle clonus, Spastic gait, Upper limb spasticity, Hand tremor, Babinski sign, Spastic paraplegia... OMIM:614409
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, U... ORPHA:216873
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Malabsorption, Protruding tongue, Macroglossia OMIM:242860
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Developmental And Epileptic Encephalopathy 80
High palate, Long philtrum, Wide mouth, Protruding tongue, Smooth philtrum, Tented upper lip verm... OMIM:618580
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Ritscher-Schinzel Syndrome 2
Protruding tongue, Short philtrum OMIM:300963
Kleefstra Syndrome 1
Natal tooth, Macroglossia, Everted lower lip vermilion, Protruding tongue, Persistence of primary... OMIM:610253
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Neurodevelopmental Disorder With Variable Motor And Language Impairment
High palate, Everted lower lip vermilion, Protruding tongue, Smooth philtrum, Open mouth, Dystonia OMIM:617804
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... ORPHA:98762
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia OMIM:600116
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Protruding tongue, Wide mouth, Widely spaced teeth ORPHA:98794
Pitt-Hopkins-Like Syndrome 2
Protruding tongue, Wide mouth OMIM:614325
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Myoclonus, Intention tremor, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:610539
Angelman Syndrome Due To A Point Mutation
Protruding tongue, Wide mouth, Widely spaced teeth ORPHA:411511
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Marshall-Smith Syndrome
Open mouth, Protruding tongue, Gingival overgrowth ORPHA:561
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Everted lower lip vermilion, Protruding tongue, Smooth philtrum ORPHA:324410
Congenital Sialidosis Type 2
Inguinal hernia, Protruding tongue, Gingival overgrowth, Umbilical hernia ORPHA:93400
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Protruding tongue, Gingival overgrowth, Wide mouth OMIM:618797
Nathalie Syndrome
Cataract OMIM:255990
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Corneal opacity, Hepatomegaly ORPHA:79292
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor OMIM:615768
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Corticobasal Syndrome
Limb myoclonus, Speech apraxia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, Tremor, Inv... ORPHA:454887
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Ankle clonus, Tortuosity of conjunctival vessels, Truncal ataxia, Progressive gait ataxia, Limb a... ORPHA:284289
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Oromandibular dyston... ORPHA:521406
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Involuntary movements, Gener... ORPHA:99657
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar ataxia associated with quadrupedal gait, Gait ataxia, Dysdiadochokinesis, Truncal atax... OMIM:224050
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Everted lower lip vermilion, Inguinal hernia, Downturned corners of mouth, Protrudi... ORPHA:96147
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... OMIM:607671
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Heterochromia iridis ORPHA:66633
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Robin Sequence-Oligodactyly Syndrome
Cleft palate, Glossoptosis, Abnormality of the dentition ORPHA:3104
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Spastic paraplegia,... ORPHA:251282
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Cataract 47
Cataract, Microcornea OMIM:612018
Ring Chromosome 22 Syndrome
Protruding tongue, Thick vermilion border ORPHA:1446
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor OMIM:607458
Microcephaly 26, Primary, Autosomal Dominant
Protruding tongue, Gingival overgrowth, Long philtrum OMIM:619179
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Tremor, Limb dysmetr... OMIM:213600
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... OMIM:613135
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkinsonism with favor... ORPHA:240103
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
X-Linked Immunoneurologic Disorder
Cataract, Hemiplegia/hemiparesis, Hypertonia ORPHA:2571
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Galactose Mutarotase Deficiency
Cataract, Cholestasis, Hepatomegaly ORPHA:570422
Spastic Paraplegia 5A, Autosomal Recessive
Spastic gait, Postural tremor, Upper limb spasticity, Babinski sign, Spastic paraplegia, Cataract... OMIM:270800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Thick lower lip vermilion, Macroglossia, Diastema, Protruding tongue, Widely-spaced maxillary cen... OMIM:301040
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel rigidity, Limb dysmetria ORPHA:363710
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly OMIM:608971
Hurler-Scheie Syndrome
Abnormal pyramidal sign, Corneal opacity, Abnormality of the tonsils, Hepatomegaly, Splenomegaly ORPHA:93476
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Resting tremor OMIM:616710
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Opisthotonus, Choreoathetosis, Protruding tongue OMIM:619580
Free Sialic Acid Storage Disease
Spasticity, Abnormal pyramidal sign, Iris hypopigmentation, Oculomotor apraxia, Ataxia, Hepatomeg... ORPHA:834
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Protruding tongue, Smooth philtrum, Intrauterine growth retardation, Thick vermilio... OMIM:608779
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Narrow mouth, Gingival overgrowth OMIM:230600
Sialidosis Type 2
Ataxia, Tremor, Corneal opacity, Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus OMIM:600363
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia OMIM:261630
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Tremor OMIM:615400
Raine Syndrome
Enamel hypoplasia, High palate, Wide mouth, Natal tooth, Microdontia, Narrow mouth, Protruding to... OMIM:259775
Spinocerebellar Ataxia Type 14
Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia ORPHA:98763
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Limb dystonia, Torticollis, Myoclonus, Hand tremor, Upper limb postural tremor, Or... ORPHA:420485
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Tremor OMIM:615362
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopen... OMIM:603552
Parkinson Disease 17
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia OMIM:614203
Angelman Syndrome
Tremor, Protruding tongue, Wide mouth, Widely spaced teeth ORPHA:72
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Spasticity, Cataract OMIM:610156
Gaucher Disease Type 2
Spasticity, Dystonia, Splenomegaly, Hepatomegaly ORPHA:77260
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Spasticity, Ataxia, Babinski sign, Intention tremor, Cataract, Dysmetria, Subcapsular cataract OMIM:612674
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Eyelid myoclonus, Clumsiness, Myoclonus, Hepatosplenomegaly, Tremor, Frequent falls ORPHA:2590
Peroxisome Biogenesis Disorder 8B
Gait ataxia, Spasticity, Ankle clonus, Limb tremor, Rigidity, Ataxia, Babinski sign, Spastic para... OMIM:614877
Dystonia 24
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia OMIM:615034
Leukocyte Adhesion Deficiency Type Ii
Narrow palate, Deep philtrum, Severe periodontitis, Protruding tongue, Long upper lip, Premature ... ORPHA:99843
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
3-Methylglutaconic Aciduria Type 4
Spasticity, Iris hypopigmentation, Cataract, Thrombocytopenia ORPHA:67048
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia ORPHA:228312
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
Spinocerebellar Ataxia 7
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... OMIM:164500
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Aniridia 2
Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Neuraminidase Deficiency
Myoclonus, Cataract, Dysmetria, Slurred speech, Bone-marrow foam cells, Hepatomegaly, Cardiomegal... OMIM:256550
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:116200
Dystonia 12
Parkinsonism, Torticollis, Tremor, Dystonia, Bradykinesia OMIM:128235
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia OMIM:618093
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Burning Mouth Syndrome
Abnormality of taste sensation, Strawberry tongue, Tongue pain, Parageusia, Xerostomia, Smooth to... ORPHA:353253
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis OMIM:269600
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Posterior subcapsular cataract, Ataxia, Postural tremor OMIM:300619
Developmental And Epileptic Encephalopathy 100
Enamel hypoplasia, High palate, Microdontia, Choreoathetosis, Protruding tongue, Tented upper lip... OMIM:619777
Spinocerebellar Ataxia 23
Gait ataxia, Limb ataxia, Babinski sign, Dysmetria, Tremor OMIM:610245
Joubert Syndrome 33
Oculomotor apraxia, Splenomegaly, Ataxia OMIM:617767
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Protruding tongue, High, narrow palate, Macroglossia OMIM:214100
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Hodgkin Lymphoma
Ataxia, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... OMIM:606324
Auriculocondylar Syndrome 2
Dental malocclusion, Mandibular condyle hypoplasia, Dental crowding, Narrow mouth, Microglossia, ... OMIM:614669
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Tremor, Abnormality of the liver, Biliary tract abnormality ORPHA:79234
Retinitis Pigmentosa 40
Cataract OMIM:613801
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Joubert Syndrome 1
Triangular-shaped open mouth, Protruding tongue, Occipital myelomeningocele, Macroglossia OMIM:213300
Congenital Rubella Syndrome
Anemia, Spastic diplegia, Aplasia/Hypoplasia of the iris, Jaundice, Cataract, Corneal opacity, He... ORPHA:290
4H Leukodystrophy
Dysdiadochokinesis, Progressive gait ataxia, Abnormality of extrapyramidal motor function, Upper ... ORPHA:289494
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Titu... ORPHA:397946
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Gaucher Disease, Type Iii
Myoclonus, Pancytopenia, Ataxia, Spastic paraparesis, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:231000
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Griscelli Syndrome Type 2
Iris hypopigmentation, Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, H... ORPHA:79477
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Autosomal Recessive Spastic Paraplegia Type 26
Pseudobulbar paralysis, Babinski sign, Cataract, Lower limb spasticity, Dystonia ORPHA:101006
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... OMIM:606159
Aicardi-Goutieres Syndrome 4
Spasticity, Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Dystonia, Splenomegaly OMIM:610333
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Ataxia... OMIM:617145
Proximal Myotonic Myopathy
Cataract ORPHA:606
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism, Ataxia ORPHA:231183
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor OMIM:618587
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Dystonia 7, Torsion
Blepharospasm, Writer's cramp, Clumsiness, Torticollis, Hand tremor, Torsion dystonia, Oromandibu... OMIM:602124
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Okur-Chung Neurodevelopmental Syndrome
High palate, Inguinal hernia, Thin upper lip vermilion, Protruding tongue, Umbilical hernia OMIM:617062
Senior-Loken Syndrome
Cataract, Ataxia, Congenital hepatic fibrosis ORPHA:3156
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity OMIM:619028
Hypermanganesemia With Dystonia 1
Poor fine motor coordination, Cirrhosis, Parkinsonism, Rigidity, Abnormality of extrapyramidal mo... OMIM:613280
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic tetraplegia, Spastic gait, Resting tremor, Parkinsonism, Apraxia, Choreoathetosis, Ataxia... OMIM:300055
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... ORPHA:2585
Alpha-Thalassemia
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... ORPHA:846
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia OMIM:617917
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612716
Autosomal Dominant Keratitis
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... ORPHA:2334
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia OMIM:617836
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract OMIM:601547
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly OMIM:620010
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... OMIM:614470
Catel-Manzke Syndrome
Cleft palate, Oral synechia, Glossoptosis ORPHA:1388
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... OMIM:615157
Parkinsonism-Dystonia 2, Infantile-Onset
Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Tremor, Dystonia OMIM:618049
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Spasticity, Myoclonic spasms, Clumsiness, Myoclonus, Ataxia... ORPHA:79263
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Abnormal pyramidal sign, Myoclonus, Dysmetria, Cataract, Involuntary movements OMIM:619780
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100024
Alpha-N-Acetylgalactosaminidase Deficiency
Spasticity, Clonus, Cataract, Tetraplegia, Cardiomegaly ORPHA:3137
Spastic Paraplegia 9B, Autosomal Recessive
Spasticity, Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Cataract, Tremor, Tetraplegia OMIM:616586
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... OMIM:617514
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Open mouth, Protruding tongue, Macroglossia ORPHA:258
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor OMIM:213200
Joubert Syndrome 9
Hepatic fibrosis, Astigmatism, Cataract, Oculomotor apraxia OMIM:612285
Leukodystrophy, Hypomyelinating, 24
Tongue fasciculations, Cataract, B lymphocytopenia OMIM:619851
Sialidosis Type 1
Myoclonus, Ataxia, Cataract, Slurred speech, Tremor, Corneal opacity, Splenomegaly ORPHA:812
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh... ORPHA:363654
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Spasticity, Cataract, Hepatomegaly OMIM:613730
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... OMIM:615513
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Hepatomegaly,... ORPHA:79301
Achondrogenesis, Type Ia
Protruding tongue OMIM:200600
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Cirrhosis, Spasticity, Abnormal pyramidal sign, Limb dystonia, Myoclonus, Poor motor... ORPHA:363400
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly ORPHA:100025
Hartnup Disorder
Glossitis OMIM:234500
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Hemiparesis, Tremor, Dystonia, Bradykinesia ORPHA:306669
Lipoid Proteinosis
High palate, Tongue nodules, Thick lower lip vermilion, Abnormal oral mucosa morphology, Microglo... ORPHA:530
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Cerebral Creatine Deficiency Syndrome 2
Rigidity, Paraparesis, Myoclonus, Ataxia, Tremor, Progressive extrapyramidal movement disorder, H... OMIM:612736
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Blepharospasm, Torsion dystonia, Tremor OMIM:224500
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Galactokinase Deficiency
Hepatosplenomegaly, Cataract, Nuclear cataract, Hepatomegaly, Speech apraxia ORPHA:79237
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia ORPHA:329284
Griscelli Syndrome
Leukopenia, Spasticity, Hepatitis, Iris hypopigmentation, Jaundice, Ataxia, Abnormality of neutro... ORPHA:381
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy OMIM:613435
Hemifacial Atrophy, Progressive
Dental malocclusion, Short mandibular rami, Tongue atrophy, Delayed eruption of teeth OMIM:141300
Scheie Syndrome
Cerebral palsy, Spastic paraparesis, Corneal opacity, Hepatomegaly, Splenomegaly ORPHA:93474
Hyperphenylalaninemia, Bh4-Deficient, A
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Tremor, Hypertonia, Dystonia, B... OMIM:261640
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Cleft palate, Long philtrum, Glossoptosis ORPHA:166100
Cataract 5, Multiple Types
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Cataract 48
Cataract OMIM:618415
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Hyperkinetic movements, Dystonia OMIM:619738
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gait ataxia, Spasticity, Hemiballismus, Parkinsonism, Truncal ataxia, Rigidity, Myoclonus, Choreo... OMIM:618877
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor, Spasticit... ORPHA:99
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Follicular Lymphoma
Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum, Mediastinal lymphadenopathy ORPHA:545
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Splenomegaly OMIM:619658
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Hepatomegaly, Splenomegaly OMIM:613313
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Peroxisome Biogenesis Disorder 9B
Cataract, Ataxia OMIM:614879
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Myopathy With Extrapyramidal Signs
Chorea, Clumsiness, Abnormality of extrapyramidal motor function, Choreoathetosis, Ataxia, Tremor... OMIM:615673
Blomstrand Lethal Chondrodysplasia
Protruding tongue, Long philtrum, Natal tooth ORPHA:50945
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly OMIM:613101
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism with favorable respons... OMIM:606693
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Fontaine Progeroid Syndrome
Long philtrum, Microdontia, Oligodontia, Everted lower lip vermilion, Thin upper lip vermilion, A... OMIM:612289
Immunodeficiency, Common Variable, 2
Conjunctivitis, Lymphadenopathy, Follicular hyperplasia, Hepatomegaly, Splenomegaly OMIM:240500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Choreoathetosis, Hepatomegaly, Thrombocytopenia, Neutropenia, Dystonia, Spl... ORPHA:79312
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Ataxia, Cholecystitis, Impaired neutrophi... OMIM:613470
Leukodystrophy, Hypomyelinating, 11
Ataxia, Spasticity, Tremor, Myoclonus OMIM:616494
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Spasticity, Hemolytic anemia, Jaundice, Ataxia, Cataract, Nuclear cataract, Hepat... OMIM:608885