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
tremors Vps4atm1b(EUCOMM)Hmgu HET   Early adult 4.79×10-05
unresponsive to tactile stimuli Vps4atm1b(EUCOMM)Hmgu HOM E18.5 0.00
cataract Vps4atm1b(EUCOMM)Hmgu HET   Early adult 4.77×10-05
abnormal lens morphology Vps4atm1b(EUCOMM)Hmgu HET   Early adult 2.43×10-05
abnormal embryo size Vps4atm1b(EUCOMM)Hmgu HOM E18.5 0.00
preweaning lethality, complete penetrance Vps4atm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal skin morphology Vps4atm1b(EUCOMM)Hmgu HET Early adult 0.00
protruding tongue Vps4atm1b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal body wall morphology Vps4atm1b(EUCOMM)Hmgu HOM E18.5 0.00
unresponsive to tactile stimuli Vps4atm1b(EUCOMM)Hmgu HET E18.5 0.00
enlarged spleen Vps4atm1b(EUCOMM)Hmgu HET Early adult 0.00
increased spleen weight Vps4atm1b(EUCOMM)Hmgu HET Early adult 3.94×10-10

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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 1.18% (6 of 510)
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 510)
embryo 0.39% (2 of 511)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 510)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 510)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 510)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
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 505)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
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 510)
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 505)
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 510)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
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.

Eye Morphology

VIP of right fundus

14 Images

MicroCT E18.5

Embryo reconstruction

6 Images

Adult LacZ

LacZ Images Wholemount

23 Images

X-ray

XRay Images Whole Body Lateral Orientation

4 Images

Eye Morphology

VIP of right eye

14 Images

Eye Morphology

VIP of left fundus

14 Images

Eye Morphology

VIP of left eye

14 Images

X-ray

XRay Images Forepaw

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Skull Lateral Orientation

4 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B 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
Cholelithiasis, Ataxia, Microvesicular hepatic steatosis, Hepatomegaly, Chorea, Developmental cat... OMIM:619273

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cataract ORPHA:1397
Spastic Paraparesis And Deafness
Tremor, Cataract, Spastic paraparesis OMIM:312910
Geographic And Fissured Tongue
Geographic tongue, Furrowed tongue OMIM:137400
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Ataxia, Hepatomegaly, Splenomegaly ORPHA:2274
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Protruding tongue, Smooth philtrum, Open mouth OMIM:618732
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Aniridia 3
Cataract OMIM:617142
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cataract, Limb ataxia OMIM:617133
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Optic Atrophy 3, Autosomal Dominant
Tremor, Cataract, Abnormality of extrapyramidal motor function OMIM:165300
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Chorea, Remitting, With Nystagmus And Cataract
Cataract, Chorea OMIM:601372
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Spastic dysarthria, Progressive spastic paraplegia, Cataract, Lower limb spasticity ORPHA:401830
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Cataract OMIM:273680
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Dysequilibrium Syndrome
Cerebral palsy, Ataxia, Cataract ORPHA:1766
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract, Spastic tetraplegia OMIM:615412
Spastic Paraparesis-Deafness Syndrome
Hemiplegia/hemiparesis, Ataxia, Cataract, Spastic paraparesis ORPHA:2815
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Cataract 11, Multiple Types
Hypertonia, Cataract, Chorea OMIM:610623
Nathalie Syndrome
Cataract ORPHA:2663
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... OMIM:614561
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Trichomegaly
Cataract OMIM:190330
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
X-Linked Dystonia-Parkinsonism
Blepharospasm, Torsion dystonia, Hand tremor, Resting tremor, Protruding tongue, Limb dystonia, F... ORPHA:53351
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Glutathionuria
Tremor OMIM:231950
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Hepatomegaly, Splenomegaly, Frequent falls, Tremor, Gait ataxia, Hepatic fibrosis, Spasti... OMIM:616719
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
X-Linked Retinoschisis
Cataract ORPHA:792
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Hepatomegaly, Dystonia, Splenomegaly ORPHA:139406
Galactose Epimerase Deficiency
Jaundice, Cataract, Hepatomegaly, Splenomegaly ORPHA:79238
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Cataract, Spasticity OMIM:278780
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly, Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations OMIM:611721
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Dental crowding, Inguinal hernia, Protruding tongue, Thick vermilion bor... OMIM:618106
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hepatomegaly, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia OMIM:615924
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Astigmatism, Cra... OMIM:617284
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Developmental cataract, Tremor ORPHA:1368
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Bifid uvula, Protruding tongue, U... OMIM:612938
Down Syndrome
Anal atresia, Narrow mouth, Narrow palate, Macroglossia, Abnormality of the dentition, Microdonti... ORPHA:870
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus OMIM:616921
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Glut1 Deficiency Syndrome 2
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reticulocytosis, Dystonia OMIM:612126
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Umbilical hernia, Open m... OMIM:200990
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Tremor, Hemiballismus, Chorea ORPHA:494526
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Intention tremor, Hemiparesis, Tremor, Cataract, Spasticity, Abnormality of the liver OMIM:614307
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Angelman Syndrome
Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue, Limb tremor OMIM:105830
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemiparesis, Hemolytic anemia, Hepatitis,... ORPHA:444463
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract, Spasticity OMIM:212540
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Mevalonic Aciduria
Ataxia, Cataract, Splenomegaly ORPHA:29
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Exfoliation Syndrome
Lens subluxation, Anisocoria, Rigidity, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pig... OMIM:177650
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Cataract, Hepatomegaly OMIM:614876
Juvenile Sialidosis Type 2
Gingival overgrowth, Protruding tongue, Inguinal hernia, Umbilical hernia ORPHA:93399
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Widely spaced teeth, Wide mouth, Protruding tongue ORPHA:98795
Congenital Disorder Of Glycosylation, Type Iia
Wide mouth, Gingival overgrowth, Everted lower lip vermilion, Thin vermilion border, Abnormality ... OMIM:212066
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Icf Syndrome
Malabsorption, Protruding tongue, Macroglossia, Umbilical hernia ORPHA:2268
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hypertonia, Ataxia, Hepatomegaly, Splenomegaly, Hemolytic anemia, Cataract, Spasticity, Jaundice OMIM:608885
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Malabsorption, Protruding tongue, Macroglossia OMIM:242860
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Developmental And Epileptic Encephalopathy 80
High palate, Wide mouth, Long philtrum, Protruding tongue, Tented upper lip vermilion, Smooth phi... OMIM:618580
Urocanase Deficiency
Tremor, Ataxia, Blue irides OMIM:276880
Ritscher-Schinzel Syndrome 2
Short philtrum, Protruding tongue OMIM:300963
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... ORPHA:251282
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Persistence of primary teeth, Macroglossia, Everted lower lip vermi... OMIM:610253
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Tremor, Protruding tongue, Wide mouth ORPHA:98794
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:600116
Spastic Paraplegia 46, Autosomal Recessive
Upper limb spasticity, Upper limb dysmetria, Ankle clonus, Knee clonus, Babinski sign, Head tremo... OMIM:614409
Pellagra-Like Syndrome
Ataxia, Cataract OMIM:260650
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Intention tremor, Myoclonus, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Wide mouth, Protruding tongue ORPHA:411511
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Protruding tongue, Smooth philtrum, Everted lower lip vermilion ORPHA:324410
Marshall-Smith Syndrome
Gingival overgrowth, Protruding tongue, Open mouth ORPHA:561
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Wide mouth, Gingival overgrowth, Protruding tongue OMIM:618797
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Tremor, Rigidity, Dystonia OMIM:615010
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Congenital Sialidosis Type 2
Gingival overgrowth, Protruding tongue, Inguinal hernia, Umbilical hernia ORPHA:93400
Fish-Eye Disease
Corneal opacity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Macroglossia, Long philtrum, Protruding tongue, Dental crowding OMIM:141750
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Nathalie Syndrome
Cataract OMIM:255990
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti... OMIM:270500
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Gait ataxia, Cataract OMIM:224050
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Inguinal hernia, Everted lower lip vermilion, Downturned corners of mouth, Protrudi... ORPHA:96147
Martsolf Syndrome 2
Spastic diplegia, Cataract, Developmental cataract OMIM:619420
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... ORPHA:99657
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity OMIM:615768
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Heterochromia iridis ORPHA:66633
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... ORPHA:521406
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Ring Chromosome 22 Syndrome
Thick vermilion border, Protruding tongue ORPHA:1446
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Microcephaly 26, Primary, Autosomal Dominant
Gingival overgrowth, Protruding tongue, Long philtrum OMIM:619179
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Progressive cerebellar ataxia, Limb ataxia, Dysmetria, Intent... ORPHA:284289
Cataract 47
Cataract, Microcornea OMIM:612018
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr... ORPHA:454887
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Cataract, Spasticity, Tetraplegia OMIM:616586
Galactose Mutarotase Deficiency
Cataract, Hepatomegaly, Cholestasis ORPHA:570422
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cataract ORPHA:3233
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Protruding tongue, Thick vermilion border, Intrauterine growth retardation, Smooth ... OMIM:608779
Hurler-Scheie Syndrome
Corneal opacity, Hepatomegaly, Splenomegaly, Abnormal pyramidal sign, Abnormality of the tonsils ORPHA:93476
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Hepatomegaly, Spasticity OMIM:613730
Gm1-Gangliosidosis, Type Ii
Gingival overgrowth, Protruding tongue, Narrow mouth OMIM:230600
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
U-Shaped upper lip vermilion, Macroglossia, Diastema, Protruding tongue, Umbilical hernia, Thick ... OMIM:301040
Parkinson Disease 22, Autosomal Dominant
Tremor, Bradykinesia, Resting tremor OMIM:616710
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Choreoathetosis, Protruding tongue, Opisthotonus OMIM:619580
Sialidosis Type 2
Ataxia, Corneal opacity, Hepatomegaly, Splenomegaly, Tremor, Ascites ORPHA:87876
Sandhoff Disease
Ataxia, Hepatomegaly, Splenomegaly ORPHA:796
X-Linked Immunoneurologic Disorder
Hemiplegia/hemiparesis, Hypertonia, Cataract ORPHA:2571
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
3-Methylglutaconic Aciduria, Type Viii
Hypertonia, Tremor, Cataract, Neutropenia, Dystonia OMIM:617248
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity ORPHA:363710
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Hepatomegaly, Eye poking OMIM:204000
Spastic Paraplegia 5A, Autosomal Recessive
Upper limb spasticity, Babinski sign, Spastic paraplegia, Limb dysmetria, Cataract, Spastic gait,... OMIM:270800
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Spastic Paraplegia 26, Autosomal Recessive
Ataxia, Dysmetria, Babinski sign, Spastic paraplegia, Frequent falls, Cataract, Spastic gait, Low... OMIM:609195
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Free Sialic Acid Storage Disease
Ataxia, Hepatomegaly, Splenomegaly, Abnormal pyramidal sign, Athetosis, Iris hypopigmentation, Sp... ORPHA:834
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Mandibular ... OMIM:614669
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia OMIM:610245
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anem... OMIM:603552
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity OMIM:600363
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia OMIM:261630
Raine Syndrome
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Cleft palate, Microdontia, Enamel hyp... OMIM:259775
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia ORPHA:98763
Angelman Syndrome
Widely spaced teeth, Tremor, Protruding tongue, Wide mouth ORPHA:72
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Gaucher Disease Type 2
Dystonia, Hepatomegaly, Spasticity, Splenomegaly ORPHA:77260
Parkinson Disease 17
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Leukocyte Adhesion Deficiency Type Ii
Premature loss of teeth, Gingival overgrowth, Narrow palate, Long upper lip, Severe periodontitis... ORPHA:99843
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Incoordination OMIM:213200
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Thrombocytopenia, Cataract, Spasticity ORPHA:67048
Burning Mouth Syndrome
Parageusia, Xerostomia, Smooth tongue, Abnormality of taste sensation, Tongue pain, Strawberry to... ORPHA:353253
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Dysmetria, Splenomegaly, Myoclonus, Cataract, Bone-marrow f... OMIM:256550
Crigler-Najjar Syndrome Type 1
Tremor, Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice ORPHA:79234
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Ataxia, Dysmetria, Intention tremor, Babinski sign, Cataract, Spasticity OMIM:612674
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Dystonia OMIM:128235
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor OMIM:210000
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... OMIM:164500
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Protruding tongue, High, narrow palate, Macroglossia OMIM:214100
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hodgkin Lymphoma
Ataxia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Congenital Rubella Syndrome
Corneal opacity, Hepatomegaly, Splenomegaly, Spastic diplegia, Thrombocytopenia, Cataract, Anemia... ORPHA:290
Hartnup Disorder
Glossitis OMIM:234500
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia OMIM:618093
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Developmental And Epileptic Encephalopathy 100
High palate, Gingival overgrowth, Microdontia, Enamel hypoplasia, Choreoathetosis, Tented upper l... OMIM:619777
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Ch... OMIM:300055
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... OMIM:300894
4H Leukodystrophy
Ataxia, Dysmetria, Dysdiadochokinesis, Tremor, Cataract, Progressive gait ataxia, Dystonia, Upper... ORPHA:289494
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Choreoathetosis, Dystonia OMIM:261640
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Truncal ataxia, Chorea, Cataract, Hepatic steatosis ORPHA:369840
Joubert Syndrome 1
Occipital myelomeningocele, Triangular-shaped open mouth, Protruding tongue, Macroglossia OMIM:213300
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Gaucher Disease, Type Iii
Ataxia, Hepatomegaly, Spastic paraparesis, Splenomegaly, Myoclonus, Pancytopenia, Thrombocytopenia OMIM:231000
Leukodystrophy, Hypomyelinating, 24
Tongue fasciculations, Cataract, B lymphocytopenia OMIM:619851
Retinitis Pigmentosa 40
Cataract OMIM:613801
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Eye poking OMIM:204100
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Cataract, Ataxia, Short Stature, And Mental Retardation
Ataxia, Posterior subcapsular cataract, Postural tremor OMIM:300619
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Spasticity, Pancytopenia, Thrombocytopenia, Dystonia OMIM:610333
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Intention tremor, Babinski sign, Abnormal pyramidal si... ORPHA:397946
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Griscelli Syndrome Type 2
Hypertonia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Iris hypopigmentation, Ne... ORPHA:79477
Proximal Myotonic Myopathy
Cataract ORPHA:606
Autosomal Recessive Spastic Paraplegia Type 26
Pseudobulbar paralysis, Babinski sign, Cataract, Lower limb spasticity, Dystonia ORPHA:101006
Retinitis Pigmentosa 84
Cataract OMIM:618220
Hypermanganesemia With Dystonia 1
Hepatomegaly, Poor fine motor coordination, Spastic paraparesis, Bradykinesia, Polycythemia, Cirr... OMIM:613280
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait ataxia,... OMIM:617145
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Usher Syndrome Type 3
Iris hypopigmentation, Ataxia, Cataract, Astigmatism ORPHA:231183
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... OMIM:606159
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia OMIM:618587
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morp... ORPHA:2585
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia OMIM:617836
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity OMIM:619028
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Coproporphyria, Hereditary
Respiratory paralysis, Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia OMIM:617435
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly OMIM:620010
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia OMIM:257790
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia OMIM:612438
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Incoordination, Dystonia OMIM:618049
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia OMIM:612716
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... ORPHA:79263
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Protruding tongue, Macroglossia, Open mouth ORPHA:258
Galactosemia
Ataxia, Action tremor, Hepatomegaly, Cirrhosis, Abnormal erythrocyte enzyme level, Speech apraxia... ORPHA:352
Sialidosis Type 1
Corneal opacity, Ataxia, Splenomegaly, Myoclonus, Tremor, Cataract, Slurred speech ORPHA:812
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise... ORPHA:79301
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hepatomegaly, Cirrhosis, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Gait a... ORPHA:363400
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia ORPHA:139485
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
Achondrogenesis, Type Ia
Protruding tongue OMIM:200600
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... OMIM:612736
Joubert Syndrome 9
Oculomotor apraxia, Hepatic fibrosis, Cataract, Astigmatism OMIM:612285
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Eye poking OMIM:613835
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Rigidity, Spasticity, Oculomotor apraxia, Anemia, Thrombocytopenia OMIM:230900
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Lipoid Proteinosis
High palate, Abnormality of the gingiva, Abnormal oral mucosa morphology, Tongue nodules, Microgl... ORPHA:530
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Hemifacial Atrophy, Progressive
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Ataxia, Gait ataxia, Dysmetria OMIM:618387
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Tremor, ... ORPHA:240085
Isolated Aniridia
Peters anomaly, Cataract, Aniridia ORPHA:250923
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, Tremor, Athetosis OMIM:617106
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Dysmetria, Myoclonus, Abnormal pyramidal sign, Involuntary movements, Cataract OMIM:619780
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy OMIM:613435
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Long philtrum, Cleft palate ORPHA:166100
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Scheie Syndrome
Corneal opacity, Hepatomegaly, Spastic paraparesis, Splenomegaly, Cerebral palsy ORPHA:93474
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia ORPHA:329284
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum