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
preweaning lethality, complete penetrance Vps4atm1b(EUCOMM)Hmgu HOM   Early adult 0.00
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
cataract Vps4atm1b(EUCOMM)Hmgu HET   Early adult 4.77×10-05
abnormal skin morphology Vps4atm1b(EUCOMM)Hmgu HET Early adult 0.00
tremors Vps4atm1b(EUCOMM)Hmgu HET   Early adult 5.43×10-05
unresponsive to tactile stimuli Vps4atm1b(EUCOMM)Hmgu HOM 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
abnormal embryo size Vps4atm1b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal body wall morphology 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.

Eye Morphology

VIP of left eye

14 Images

Adult LacZ

LacZ Images Wholemount

23 Images

Eye Morphology

VIP of right eye

14 Images

Eye Morphology

VIP of left fundus

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

MicroCT E18.5

Embryo reconstruction

6 Images

Eye Morphology

VIP of right fundus

14 Images

X-ray

XRay Images Skull Lateral Orientation

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

4 Images

X-ray

XRay Images Forepaw

4 Images

Embryo LacZ

LacZ images wholemount

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
Hepatomegaly, Ataxia, Microvesicular hepatic steatosis, Chorea, Developmental cataract, Dystonia,... 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
Splenomegaly, Cataract OMIM:619813
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Spastic Paraparesis And Deafness
Tremor, Cataract, Spastic paraparesis 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
Splenomegaly, Hepatomegaly, Ataxia ORPHA:2274
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Optic Atrophy 3, Autosomal Dominant
Tremor, Cataract, Abnormality of extrapyramidal motor function OMIM:165300
Chorea, Remitting, With Nystagmus And Cataract
Chorea, Cataract OMIM:601372
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Cataract 11, Multiple Types
Hypertonia, Chorea, Cataract, Developmental cataract OMIM:610623
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Cataract, Hand tremor, Spastic dysarthria, Progressive spastic paraplegia ORPHA:401830
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Cataract 42
Cataract, Developmental cataract OMIM:115900
Dysequilibrium Syndrome
Cerebral palsy, Cataract, Ataxia ORPHA:1766
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
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
Hemiplegia/hemiparesis, Cataract, Ataxia, Spastic paraparesis ORPHA:2815
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
Nathalie Syndrome
Cataract ORPHA:2663
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Trichomegaly
Cataract OMIM:190330
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
X-Linked Dystonia-Parkinsonism
Resting tremor, Protruding tongue, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, ... ORPHA:53351
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly, Myoclonus, Dystonia ORPHA:139406
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia OMIM:617018
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations OMIM:611721
X-Linked Retinoschisis
Cataract ORPHA:792
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Cataract ORPHA:79238
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Cataract, Ataxia OMIM:278780
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Astigmatism, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spast... OMIM:617284
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Intellectual Developmental Disorder, Autosomal Dominant 58
Inguinal hernia, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Hig... OMIM:618106
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasticity OMIM:615924
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia, Developmental cataract ORPHA:1368
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Umbilical hern... OMIM:612938
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Gait ataxia ORPHA:217012
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Down Syndrome
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... ORPHA:870
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Rigidity, Anisocoria, Pseudoexfoliation, Pigment deposition i... OMIM:177650
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia OMIM:612126
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Frequ... OMIM:616719
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... OMIM:200990
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Ataxia, Tremor, Hemiparesis, Abnormality of the liver, Spasticity, Intention tremor OMIM:614307
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Rigidity, Dystonia, Thrombocytopenia OMIM:615010
Angelman Syndrome
Protruding tongue, Limb tremor, Wide mouth, Macroglossia, Widely spaced teeth OMIM:105830
Mevalonic Aciduria
Splenomegaly, Cataract, Ataxia ORPHA:29
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Juvenile Sialidosis Type 2
Umbilical hernia, Inguinal hernia, Gingival overgrowth, Protruding tongue ORPHA:93399
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Widely spaced teeth, Protruding tongue ORPHA:98795
Icf Syndrome
Macroglossia, Malabsorption, Umbilical hernia, Protruding tongue ORPHA:2268
Spastic Paraplegia 46, Autosomal Recessive
Lower limb spasticity, Cataract, Babinski sign, Spastic paraplegia, Hand tremor, Ankle clonus, Up... OMIM:614409
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... ORPHA:216873
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Cataract OMIM:614876
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Protruding tongue, Everted lower lip vermilion, High palate, Dystonia, Open mouth, Smooth philtrum OMIM:617804
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Malabsorption, Protruding tongue OMIM:242860
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Developmental And Epileptic Encephalopathy 80
Tented upper lip vermilion, Protruding tongue, Wide mouth, High palate, Long philtrum, Smooth phi... OMIM:618580
Congenital Disorder Of Glycosylation, Type Iia
Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, Thin vermilion border,... OMIM:212066
Kleefstra Syndrome 1
Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia, Everted lower lip ver... OMIM:610253
Leukoencephalopathy With Vanishing White Matter 2
Spasticity, Cataract OMIM:620312
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Wide mouth, Widely spaced teeth, Tremor, Protruding tongue ORPHA:98794
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Angelman Syndrome Due To A Point Mutation
Wide mouth, Widely spaced teeth, Protruding tongue ORPHA:411511
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Myoclonus, Thrombocytopenia, Intention tremor OMIM:610539
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebellar ataxia associate... OMIM:224050
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Everted lower lip vermilion, Smooth philtrum, Protruding tongue ORPHA:324410
Marshall-Smith Syndrome
Open mouth, Gingival overgrowth, Protruding tongue ORPHA:561
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Wide mouth, Gingival overgrowth, Protruding tongue OMIM:618797
Developmental And Epileptic Encephalopathy 31B
Opisthotonus, Gingival overgrowth, Protruding tongue OMIM:620352
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Congenital Sialidosis Type 2
Umbilical hernia, Inguinal hernia, Gingival overgrowth, Protruding tongue ORPHA:93400
Nathalie Syndrome
Cataract OMIM:255990
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Protruding tongue, Downturned corners of mouth, Macroglossia, Everted lower lip ... ORPHA:96147
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Slurred speech, Tortuosity of conjunctival vessels, Dysmetria, Limb ataxia, Ankle clonu... ORPHA:284289
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Ring Chromosome 22 Syndrome
Thick vermilion border, Protruding tongue ORPHA:1446
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Gingival overgrowth, Protruding tongue OMIM:619179
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Heterochromia iridis ORPHA:66633
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Cataract 47
Microcornea, Cataract OMIM:612018
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Cholestasis ORPHA:570422
X-Linked Immunoneurologic Disorder
Hypertonia, Hemiplegia/hemiparesis, Cataract ORPHA:2571
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Choreoathetosis, Opisthotonus, Protruding tongue OMIM:619580
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Splenomegaly, Abnormal pyramidal sign ORPHA:93476
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria ORPHA:363710
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb spasticity, Cataract, Postural tremor, Babinski sign, Spastic paraplegia, Upper limb s... OMIM:270800
Sialidosis Type 2
Hepatomegaly, Corneal opacity, Ataxia, Tremor, Splenomegaly, Ascites ORPHA:87876
Free Sialic Acid Storage Disease
Hepatomegaly, Ataxia, Splenomegaly, Abnormal pyramidal sign, Athetosis, Oculomotor apraxia, Spast... ORPHA:834
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced maxillary central incisors,... OMIM:301040
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Dystonia 12
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia OMIM:128235
Congenital Disorder Of Glycosylation, Type Iie
Protruding tongue, Thick vermilion border, Narrow mouth, Intrauterine growth retardation, Smooth ... OMIM:608779
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Spasticity, Cataract OMIM:610156
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:98763
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Gingival overgrowth, Narrow mouth OMIM:230600
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait OMIM:600363
Angelman Syndrome
Wide mouth, Widely spaced teeth, Tremor, Protruding tongue ORPHA:72
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Ritscher-Schinzel Syndrome 2
Intestinal malrotation, High palate, Short philtrum, Protruding tongue OMIM:300963
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Conjunctivitis, Hemophag... OMIM:603552
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly, Spasticity, Dystonia ORPHA:77260
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Clumsiness, Eyelid myoclonus, Hepatosplenomegaly, Myoclonus, Limb myoclonus, Frequent falls ORPHA:2590
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Raine Syndrome
Natal tooth, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, High palate, Narro... OMIM:259775
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Ataxia, Babinski sign, Dysmetria, Spasticity, Subcapsular cataract, Intention tremor OMIM:612674
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Peroxisome Biogenesis Disorder 8B
Lower limb spasticity, Cataract, Ataxia, Clonus, Rigidity, Babinski sign, Limb tremor, Dysmetria,... OMIM:614877
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Protruding tongue, Deep philtrum, Premature loss of teeth, Gingival overgro... ORPHA:99843
3-Methylglutaconic Aciduria Type 4
Spasticity, Cataract, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Crigler-Najjar Syndrome Type 1
Tremor, Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice ORPHA:79234
Neuraminidase Deficiency
Hepatomegaly, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocyte... OMIM:256550
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Auriculocondylar Syndrome 2A
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:614669
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Joubert Syndrome 1
Macroglossia, Occipital myelomeningocele, Triangular-shaped open mouth, Protruding tongue OMIM:213300
Peroxisome Biogenesis Disorder 1A (Zellweger)
Macroglossia, High, narrow palate, High palate, Protruding tongue OMIM:214100
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Spinocerebellar Ataxia 23
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia OMIM:610245
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, Choreoathetosis, High palate,... OMIM:619777
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Posterior subcapsular cataract, Ataxia OMIM:300619
Usher Syndrome Type 3
Cataract, Ataxia, Astigmatism, Iris hypopigmentation ORPHA:231183
Joubert Syndrome 33
Oculomotor apraxia, Splenomegaly, Ataxia OMIM:617767
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Congenital Rubella Syndrome
Hepatomegaly, Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly, Jaundice, Spastic dipleg... ORPHA:290
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
4H Leukodystrophy
Cataract, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of ... ORPHA:289494
Retinitis Pigmentosa 40
Cataract OMIM:613801
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Spastic paraparesis, Thrombocytopenia OMIM:231000
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hypertonia, Hemophagocytosis... ORPHA:79477
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Spasticity, Thrombocytopenia OMIM:610333
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Autosomal Recessive Spastic Paraplegia Type 26
Lower limb spasticity, Cataract, Babinski sign, Pseudobulbar paralysis, Dystonia ORPHA:101006
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Proximal Myotonic Myopathy
Cataract ORPHA:606
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Inguinal hernia, Protruding tongue, High palate, Umbilical hernia OMIM:617062
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Senior-Loken Syndrome
Congenital hepatic fibrosis, Cataract, Ataxia ORPHA:3156
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, A... ORPHA:2585
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Hypermanganesemia With Dystonia 1
Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordinatio... OMIM:613280
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia OMIM:618049
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Spastic Paraplegia 9B, Autosomal Recessive
Cataract, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity OMIM:616586
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis OMIM:620010
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... OMIM:615157
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic... ORPHA:79263
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Open mouth, Protruding tongue ORPHA:258
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus OMIM:619028
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus OMIM:619780
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Clonus, Cardiomegaly, Tetraplegia, Spasticity ORPHA:3137
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Hartnup Disorder
Glossitis OMIM:234500
Leukodystrophy, Hypomyelinating, 24
Cataract, B lymphocytopenia, Tongue fasciculations OMIM:619851
Joubert Syndrome 9
Oculomotor apraxia, Cataract, Hepatic fibrosis, Astigmatism OMIM:612285
Sialidosis Type 1
Cataract, Corneal opacity, Ataxia, Tremor, Splenomegaly, Slurred speech, Myoclonus ORPHA:812
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Spasticity, Cataract OMIM:613730
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoc... ORPHA:363400
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Achondrogenesis, Type Ia
Protruding tongue OMIM:200600
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia ORPHA:306669
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... ORPHA:530
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... ORPHA:240085
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Griscelli Syndrome
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopa... ORPHA:381
Galactokinase Deficiency
Speech apraxia, Hepatomegaly, Cataract, Hepatosplenomegaly, Nuclear cataract ORPHA:79237
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... OMIM:261640
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... OMIM:618877
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Scheie Syndrome
Hepatomegaly, Cerebral palsy, Corneal opacity, Splenomegaly, Spastic paraparesis ORPHA:93474
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Cataract 48
Cataract OMIM:618415
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Myopathy With Extrapyramidal Signs
Hepatomegaly, Ataxia, Clonus, Tremor, Splenomegaly, Leukocytosis, Chorea, Clumsiness, Choreoathet... OMIM:615673
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Cataract, Ataxia, Splenomegaly, Jaundice, Nuclear cataract, Stoma... OMIM:608885
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract, Spastic paraparesis OMIM:619338
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Dystonia, Splenomegaly, Anemia, Choreoathetosis, Neutropenia, Pancreatitis, Thrombo... ORPHA:79312
Fontaine Progeroid Syndrome
Thin upper lip vermilion, Protruding tongue, High, narrow palate, Anteriorly placed anus, Oligodo... OMIM:612289
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis OMIM:240500
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Aniridia 3
Aniridia, Cataract OMIM:617142
Blomstrand Lethal Chondrodysplasia
Natal tooth, Long philtrum, Protruding tongue ORPHA:50945
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594