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
abnormal skin morphology Vps4atm1b(EUCOMM)Hmgu HET Early adult 0.00
unresponsive to tactile stimuli Vps4atm1b(EUCOMM)Hmgu HET E18.5 0.00
abnormal embryo size Vps4atm1b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal lens morphology Vps4atm1b(EUCOMM)Hmgu HET   Early adult 2.47×10-05
preweaning lethality, complete penetrance Vps4atm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal body wall morphology Vps4atm1b(EUCOMM)Hmgu HOM E18.5 0.00
protruding tongue Vps4atm1b(EUCOMM)Hmgu HOM E18.5 0.00
increased spleen weight Vps4atm1b(EUCOMM)Hmgu HET Early adult 3.94×10-10
enlarged spleen Vps4atm1b(EUCOMM)Hmgu HET Early adult 0.00
unresponsive to tactile stimuli Vps4atm1b(EUCOMM)Hmgu HOM E18.5 0.00
cataract Vps4atm1b(EUCOMM)Hmgu HET   Early adult 4.84×10-05
tremors Vps4atm1b(EUCOMM)Hmgu HET   Early adult 5.46×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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 0.71% (4 of 563)
aorta 0.18% (1 of 567)
bone 0.0%
brain 0.71% (4 of 563)
brainstem 0.36% (2 of 554)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 565)
cecum 3.08% (11 of 357)
cerebellum 0.54% (3 of 557)
cerebral cortex 0.18% (1 of 561)
esophagus 1.54% (6 of 390)
eye 0.0%
gall bladder 0.0%
heart 0.36% (2 of 557)
hippocampus 0.54% (3 of 558)
hypothalamus 0.36% (2 of 559)
kidney 3.76% (21 of 558)
large intestine 1.63% (9 of 553)
liver 0.0%
lower urinary tract 0.18% (1 of 548)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 559)
mammary gland 0.0%
olfactory lobe 0.36% (2 of 563)
oral epithelium 0.0%
ovary 0.18% (1 of 556)
oviduct 0.0%
pancreas 0.91% (5 of 550)
parathyroid gland 0.18% (1 of 543)
peripheral nervous system 0.36% (2 of 559)
peyers patch 0.0%
pituitary gland 0.18% (1 of 546)
prostate gland 1.97% (11 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 552)
small intestine 1.58% (9 of 570)
spinal cord 0.54% (3 of 558)
spleen 0.53% (3 of 563)
stomach 2.17% (12 of 553)
striatum 0.54% (3 of 556)
testis 1.08% (6 of 557)
thymus 0.18% (1 of 546)
thyroid gland 3.03% (17 of 561)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens 3.26% (12 of 368)
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 2.56% (1 of 39)
axial skeleton 2.17% (1 of 46)
brain 1.05% (4 of 382)
central nervous system ganglion 1.85% (1 of 54)
cranium 2.04% (1 of 49)
dorsal root ganglion 2.08% (1 of 48)
ear 0.25% (1 of 395)
embryo 0.0%
external ear 1.79% (1 of 56)
eye 0.27% (1 of 375)
femur pre-cartilage condensation 0.0%
footplate 0.26% (1 of 378)
forearm 0.0%
forebrain 0.26% (1 of 388)
forelimb 0.28% (1 of 358)
fronto-nasal process 0.0%
gut 2.38% (1 of 42)
handplate 0.0%
head 1.05% (4 of 381)
head mesenchyme 1.92% (1 of 52)
heart 0.0%
heart ventricle 2.17% (1 of 46)
hindbrain 1.37% (5 of 365)
hindlimb 0.26% (1 of 384)
humerus pre-cartilage condensation 2.17% (1 of 46)
inner ear 1.92% (1 of 52)
intestine 2.63% (1 of 38)
liver 0.27% (1 of 377)
lower leg 0.0%
lung 0.27% (1 of 369)
mandibular process 0.0%
maxillary process 0.0%
mesonephros of female 2.5% (1 of 40)
mesonephros of male 2.56% (1 of 39)
metanephros 0.0%
midbrain 0.27% (1 of 365)
nasal septum 2.27% (1 of 44)
nose 1.64% (1 of 61)
notochord 2.13% (1 of 47)
oral cavity 0.26% (1 of 379)
outflow tract 2.38% (1 of 42)
pancreas 2.56% (1 of 39)
pericardium 2.27% (1 of 44)
pharynx 0.0%
radius-ulna pre cartilage condensation 2.13% (1 of 47)
rib pre-cartilage condensation 0.0%
skeleton 1.56% (1 of 64)
skin 0.0%
spinal cord 1.75% (1 of 57)
stomach 2.44% (1 of 41)
tail 0.27% (1 of 370)
tail somite group 0.27% (1 of 368)
thoracic vertebral cartilage condensation 2.44% (1 of 41)
tongue 2.13% (1 of 47)
trachea 0.0%
trunk mesenchyme 0.0%
umbilical artery embryonic part 2.22% (1 of 45)
umbilical vein embryonic part 2.17% (1 of 46)
upper arm 0.43% (1 of 232)
upper leg 0.42% (1 of 238)
urinary system 2.13% (1 of 47)
vibrissa 1.82% (1 of 55)

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

Eye Morphology

VIP of left fundus

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

X-ray

XRay Images Forepaw

4 Images

Eye Morphology

VIP of right eye

14 Images

Adult LacZ

LacZ Images Wholemount

23 Images

Eye Morphology

VIP of left eye

14 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Skull Lateral Orientation

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

4 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Vps4a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Developmental cataract, Dystonia, Ataxia, Hepat... 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
Cataract, Membranous cataract OMIM:116100
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
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
Spastic Paraparesis And Deafness
Cataract, Spastic paraparesis, Tremor OMIM:312910
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly, Ataxia ORPHA:2274
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Poirier-Bienvenu Neurodevelopmental Syndrome
Open mouth, Protruding tongue, Downturned corners of mouth, Smooth philtrum OMIM:618732
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Aniridia 3
Cataract OMIM:617142
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Limb ataxia, Cataract, Spastic gait OMIM:617133
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Optic Atrophy 3, Autosomal Dominant
Cataract, Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Chorea, Remitting, With Nystagmus And Cataract
Cataract, Chorea OMIM:601372
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract 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
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Autosomal Recessive Spastic Paraplegia Type 69
Progressive spastic paraplegia, Hand tremor, Spastic dysarthria, Cataract, Lower limb spasticity ORPHA:401830
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Dysequilibrium Syndrome
Cataract, Ataxia, Cerebral palsy ORPHA:1766
Tremor, Hereditary Essential, 6
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor OMIM:616736
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
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
Cataract, Chorea, Hypertonia OMIM:610623
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Nathalie Syndrome
Cataract ORPHA:2663
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Hand tremor, Resting tremor, Focal dystonia, Blepharospasm, Limb dystonia, Prot... ORPHA:53351
Spastic Paraparesis-Deafness Syndrome
Hemiplegia/hemiparesis, Cataract, Spastic paraparesis, Ataxia ORPHA:2815
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Abnormality of extrapyramidal ... OMIM:614561
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Trichomegaly
Cataract OMIM:190330
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Glutathionuria
Tremor OMIM:231950
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Splenomegaly, Ataxia, Hepatomegaly, Gait ataxia, Spasticity, Hepatic fibrosis, Tr... OMIM:616719
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Congenital Disorder Of Glycosylation, Type Ii
Cataract, Hepatomegaly OMIM:607906
X-Linked Retinoschisis
Cataract ORPHA:792
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Galactose Epimerase Deficiency
Cataract, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract, Spastic tetraplegia OMIM:615412
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Hepatomegaly, Myoclonus, Splenomegaly ORPHA:139406
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor OMIM:617018
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor 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
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Xeroderma Pigmentosum, Complementation Group G
Cataract, Spasticity, Ataxia, Tremor OMIM:278780
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Glossoptosis, Cleft palate ORPHA:3104
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Combined Saposin Deficiency
Fasciculations, Splenomegaly, Hepatomegaly, Babinski sign, Hyperkinetic movements, Myoclonus OMIM:611721
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Ataxia, Hepatomegaly, Spasticity, Myoclonus, Tremor OMIM:615924
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... ORPHA:101110
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Cataract-Ataxia-Deafness Syndrome
Developmental cataract, Tremor, Ataxia, Hypertonia ORPHA:1368
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Intrauterine growth retardation, Macroglossia, Umbilical hernia, Protruding tongue, ... OMIM:612938
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor OMIM:300660
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Down Syndrome
Narrow mouth, Open mouth, Microdontia, Aganglionic megacolon, Thick lower lip vermilion, Anal atr... ORPHA:870
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
3-Methylglutaconic Aciduria, Type Viib
Abnormal pyramidal sign, Cataract, Neutropenia, Spasticity, Abnormality of extrapyramidal motor f... OMIM:616271
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Postural ... OMIM:128230
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Spinocerebellar Ataxia 37
Frequent falls, Ataxia, Tremor OMIM:615945
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Chorea, Tremor ORPHA:494526
Angelman Syndrome
Drooling, Widely spaced teeth, Macroglossia, Limb tremor, Protruding tongue, Wide mouth OMIM:105830
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:168100
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Hemipar... ORPHA:444463
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract, Spasticity OMIM:212540
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Ataxia, Spasticity, Tremor OMIM:615889
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Pitt-Hopkins-Like Syndrome 2
Protruding tongue, Drooling, Wide mouth OMIM:614325
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Mevalonic Aciduria
Cataract, Splenomegaly, Ataxia ORPHA:29
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Spasticity, Tremor OMIM:615528
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Congenital Disorder Of Glycosylation, Type Iia
Macrodontia, Open mouth, Everted lower lip vermilion, Abnormality of the dentition, Protruding to... OMIM:212066
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor OMIM:616187
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... ORPHA:216873
Icf Syndrome
Umbilical hernia, Protruding tongue, Malabsorption, Macroglossia ORPHA:2268
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Hepatomegaly, Jaundice OMIM:614876
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Juvenile Sialidosis Type 2
Umbilical hernia, Protruding tongue, Inguinal hernia, Gingival overgrowth ORPHA:93399
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Protruding tongue, Widely spaced teeth, Wide mouth ORPHA:98795
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Splenomegaly, Ataxia, Jaundice, Hepatomegaly, Spasticity, Hemolytic anemia, Hypertonia OMIM:608885
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Drooling, Widely spaced teeth, Wide mouth, Protruding tongue, Tremor ORPHA:98794
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Angelman Syndrome Due To A Point Mutation
Protruding tongue, Widely spaced teeth, Drooling, Wide mouth ORPHA:411511
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Developmental And Epileptic Encephalopathy 80
High palate, Long philtrum, Tented upper lip vermilion, Smooth philtrum, Protruding tongue, Wide ... OMIM:618580
Kleefstra Syndrome 1
Everted lower lip vermilion, U-Shaped upper lip vermilion, Macroglossia, Natal tooth, Protruding ... OMIM:610253
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Protruding tongue, Malabsorption, Macroglossia OMIM:242860
Urocanase Deficiency
Blue irides, Ataxia, Tremor OMIM:276880
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity... ORPHA:251282
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Ritscher-Schinzel Syndrome 2
Short philtrum, Protruding tongue OMIM:300963
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Tremor OMIM:615362
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Tre... ORPHA:98762
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:600116
Burning Mouth Syndrome
Tongue pain, Parageusia, Smooth tongue, Abnormality of taste sensation, Burning mouth, Strawberry... ORPHA:353253
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Upper limb spasticity, Cataract, Upper limb dysmetria, Spastic paraplegia, Head tre... OMIM:614409
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia, Myoclonus OMIM:610539
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Long philtrum, Macroglossia, Dental crowding, Protruding tongue OMIM:141750
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Protruding tongue, Everted lower lip vermilion, Smooth philtrum ORPHA:324410
Marshall-Smith Syndrome
Open mouth, Protruding tongue, Gingival overgrowth ORPHA:561
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Protruding tongue, Gingival overgrowth, Wide mouth OMIM:618797
Down Syndrome
Aganglionic megacolon, Anal atresia, Macroglossia, Duodenal stenosis, Protruding tongue OMIM:190685
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Oromandibular dys... OMIM:613135
Aicardi-Goutieres Syndrome 6
Rigidity, Dystonia, Hemolytic anemia, Tremor OMIM:615010
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Postural tremor, Rigidity, Babinski sign, Parkinsonism with favorable res... ORPHA:314632
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Glossoptosis, Mandibular condyle hypoplasia, Mandibular condyle ap... OMIM:614669
Congenital Sialidosis Type 2
Umbilical hernia, Protruding tongue, Inguinal hernia, Gingival overgrowth ORPHA:93400
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Fish-Eye Disease
Lymphadenopathy, Corneal opacity, Splenomegaly, Hepatomegaly ORPHA:79292
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Spasticity, Limb ataxia, Truncal ataxia, Babinski sign, Tremor OMIM:615768
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Ankl... OMIM:270500
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Kleefstra Syndrome Due To 9Q34 Microdeletion
Everted lower lip vermilion, Macroglossia, Inguinal hernia, Protruding tongue, Downturned corners... ORPHA:96147
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysmetria, Intention tremor, Cataract, Gait ataxia, Dysdiadochokinesis, Truncal ataxia OMIM:224050
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Myoclonus, Tremor OMIM:608105
Ceroid Lipofuscinosis, Neuronal, 3
Parkinsonism, Vacuolated lymphocytes, Cataract, Abnormality of extrapyramidal motor function, Myo... OMIM:204200
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Parkinsonism, Dystonia, Oromandibular dystonia, Bradykinesia, Scissor gait, Spastic... ORPHA:521406
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor OMIM:615048
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Tremor ORPHA:66633
Nathalie Syndrome
Cataract OMIM:255990
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Microcephaly 26, Primary, Autosomal Dominant
Protruding tongue, Long philtrum, Gingival overgrowth OMIM:619179
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... OMIM:607671
Ring Chromosome 22 Syndrome
Protruding tongue, Thick vermilion border ORPHA:1446
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Spastic Paraplegia 5A, Autosomal Recessive
Spastic gait, Cataract, Lower limb spasticity, Spastic paraplegia, Paraplegia, Limb dysmetria, Ba... OMIM:270800
Raine Syndrome
Narrow mouth, High palate, Enamel hypoplasia, Microdontia, Natal tooth, Protruding tongue, Cleft ... OMIM:259775
Cataract 47
Microcornea, Cataract OMIM:612018
Developmental And Epileptic Encephalopathy 35
Cataract, Limb tremor OMIM:616647
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Dysmetria, Intention tremor, Cataract, Fasciculations, Progressive cerebellar ataxia, Truncal ata... ORPHA:284289
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb apraxia, Limb dystonia, Speech ... ORPHA:454887
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Myoclonus, Hypertonia OMIM:261630
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Ataxia, Tremor OMIM:614307
Lichtenstein-Knorr Syndrome
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor OMIM:612126
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Cataract, Spastic paraplegia, Tetraplegia, Spasticity, Babinski sign, Tremor OMIM:616586
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Intrauterine growth retardation, Smooth philtrum, Protruding tongue, Thick vermilio... OMIM:608779
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
U-Shaped upper lip vermilion, Thick lower lip vermilion, Macroglossia, Widely-spaced maxillary ce... OMIM:301040
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Cataract, Progressive spasticity ORPHA:2528
Spinocerebellar Ataxia 18
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Galactose Mutarotase Deficiency
Cataract, Hepatomegaly, Cholestasis ORPHA:570422
Hurler-Scheie Syndrome
Abnormal pyramidal sign, Corneal opacity, Splenomegaly, Hepatomegaly, Abnormality of the tonsils ORPHA:93476
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Tremor OMIM:619561
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsiness, Tremor OMIM:612953
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Spasticity, Hepatomegaly OMIM:613730
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Tremor OMIM:616710
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue, Opisthotonus, Drooling OMIM:619580
Sialidosis Type 2
Corneal opacity, Splenomegaly, Ataxia, Hepatomegaly, Ascites, Tremor ORPHA:87876
X-Linked Immunoneurologic Disorder
Cataract, Hemiplegia/hemiparesis, Hypertonia ORPHA:2571
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Cataract, Tremor, Neutropenia, Hypertonia OMIM:617248
Leber Congenital Amaurosis 1
Eye poking, Keratoconus, Cataract, Hepatomegaly OMIM:204000
Hartnup Disorder
Glossitis OMIM:234500
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Dysdiadochokinesis, Limb dysmetria, Truncal ataxia, Myoclonus, Tremor ORPHA:363710
Sandhoff Disease
Hepatomegaly, Splenomegaly, Ataxia ORPHA:796
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Spastic Paraplegia 26, Autosomal Recessive
Frequent falls, Dysmetria, Dystonia, Spastic gait, Cataract, Spastic paraplegia, Ataxia, Lower li... OMIM:609195
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Angelman Syndrome
Drooling, Widely spaced teeth, Wide mouth, Protruding tongue, Tremor ORPHA:72
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Tremor OMIM:616421
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb spasticity, Spastic paraplegia, Clonus, Babinski sign, Tremor OMIM:600363
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Spinocerebellar Ataxia 23
Dysmetria, Gait ataxia, Limb ataxia, Babinski sign, Tremor OMIM:610245
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Spinocerebellar Ataxia Type 14
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myoclonus, Tremor ORPHA:98763
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Tremor OMIM:614203
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Gaucher Disease Type 2
Spasticity, Dystonia, Hepatomegaly, Splenomegaly ORPHA:77260
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Limb dystonia, Vocal tremor, Torticollis, Upper limb postural tremor,... ORPHA:420485
Leukocyte Adhesion Deficiency Type Ii
Intrauterine growth retardation, Deep philtrum, Severe periodontitis, Premature loss of teeth, Um... ORPHA:99843
Spinocerebellar Ataxia, Autosomal Recessive 17
Truncal ataxia, Dysmetria, Tremor OMIM:616127
3-Methylglutaconic Aciduria Type 4
Cataract, Spasticity, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Rigidity, Hypertonia OMIM:261640
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Gait ataxia, Spasticity, Limb ataxia, Tremor OMIM:213200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Torticollis, Tremor OMIM:128235
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality, Tremor ORPHA:79234
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Behr Syndrome
Dysmetria, Ataxia, Progressive spasticity, Babinski sign, Tremor OMIM:210000
Neuraminidase Deficiency
Dysmetria, Vacuolated lymphocytes, Cataract, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, ... OMIM:256550
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Spasticity, Chorea, Babinski sign, Abnormality of extra... OMIM:164500
Congenital Rubella Syndrome
Cataract, Corneal opacity, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Aplasia/Hypoplasia of th... ORPHA:290
Joubert Syndrome 1
Triangular-shaped open mouth, Protruding tongue, Occipital myelomeningocele, Macroglossia OMIM:213300
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly, Ataxia ORPHA:98293
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Ataxia, Tremor OMIM:617917
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Juvenile cataract, Spastic gait, Dystonia, Resting tremor, Parkinsonism, Choreoathetosis, Apraxia... OMIM:300055
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Protruding tongue, High, narrow palate, Macroglossia OMIM:214100
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Abnormality of extrapyramida... OMIM:300894
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Babinski sign, Tremor OMIM:618093
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Cataract, Hepatomegaly, Chorea, Truncal ataxia ORPHA:369840
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Blepharospasm, Bradykinesia, Leg dystonia, Rigidity, Postural tremor, Parkinsonis... OMIM:606324
Gaucher Disease, Type Iii
Pancytopenia, Spastic paraparesis, Splenomegaly, Ataxia, Hepatomegaly, Thrombocytopenia, Myoclonus OMIM:231000
4H Leukodystrophy
Dysmetria, Dystonia, Cataract, Ataxia, Upper motor neuron dysfunction, Progressive gait ataxia, D... ORPHA:289494
Retinitis Pigmentosa 40
Cataract OMIM:613801
Leber Congenital Amaurosis 2
Eye poking, Keratoconus, Cataract OMIM:204100
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Cataract, Ataxia, Short Stature, And Mental Retardation
Postural tremor, Ataxia, Posterior subcapsular cataract OMIM:300619
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis OMIM:271500
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopath... ORPHA:79477
Autosomal Spastic Paraplegia Type 58
Abnormal pyramidal sign, Frequent falls, Dysmetria, Intention tremor, Fasciculations, Gait ataxia... ORPHA:397946
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Free Sialic Acid Storage Disease
Abnormal pyramidal sign, Athetosis, Ataxia, Splenomegaly, Hepatomegaly, Spasticity, Iris hypopigm... ORPHA:834
Aicardi-Goutieres Syndrome 4
Pancytopenia, Dystonia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Spasticity, Thrombocytopenia OMIM:610333
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Proximal Myotonic Myopathy
Cataract ORPHA:606
Combined Oxidative Phosphorylation Deficiency 31
Cataract, Hypertonia OMIM:617228
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Myoclonus, Tremor OMIM:612016
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Aniridia 2
Cataract, Aniridia OMIM:617141
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:610293
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Laryngeal dystonia,... OMIM:606159
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Whistling Face Syndrome, Recessive Form
Narrow mouth, High palate, Long philtrum, Microglossia, Inguinal hernia, Whistling appearance OMIM:277720
Lipoid Proteinosis
Tongue nodules, High palate, Dystonia, Abnormal oral mucosa morphology, Thick lower lip vermilion... ORPHA:530
Combined Oxidative Phosphorylation Deficiency 13
Cataract, Dystonia, Choreoathetosis OMIM:614932
Hypermanganesemia With Dystonia 1
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Hepatomegaly, Rigidity, Poor fine moto... OMIM:613280
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Tremor OMIM:619099
Autosomal Recessive Spastic Paraplegia Type 26
Dystonia, Cataract, Lower limb spasticity, Babinski sign, Pseudobulbar paralysis ORPHA:101006
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal pyramidal sign, Upper limb spasticity, Spastic dysarthria, Cataract, Head tremor, Lower ... ORPHA:320391
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Rigidity, Chorea, Dysdi... OMIM:213600
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Retinitis Pigmentosa 84
Cataract OMIM:618220
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Ataxia, Gait ataxia, Limb ataxia, Dysdiadochokinesi... OMIM:617145
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Ataxia, Spasticity, Oculomotor apraxia, Tremor OMIM:612716
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Dystonia 7, Torsion
Torsion dystonia, Hand tremor, Blepharospasm, Torticollis, Clumsiness, Writer's cramp, Oromandibu... OMIM:602124
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Long philtrum, Cleft palate ORPHA:166100
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Cataract, Hepatic fibrosis, Cholestasis OMIM:609313
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Senior-Loken Syndrome
Cataract, Congenital hepatic fibrosis, Ataxia ORPHA:3156
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Open mouth, Protruding tongue, Impaired mastication, Macroglossia ORPHA:258
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bradykinesia, Ataxia, Rigidity, Tremor OMIM:617836
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Tremor OMIM:612438
Usher Syndrome Type 3
Cataract, Astigmatism, Ataxia, Iris hypopigmentation ORPHA:231183
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Ataxia, Tremor OMIM:301840
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Ataxia, Abnormali... ORPHA:2585
Coproporphyria, Hereditary
Respiratory paralysis, Splenomegaly, Hepatomegaly, Jaundice OMIM:121300
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Myoclonus, Tremor OMIM:619028
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Lopes-Maciel-Rodan Syndrome
Abnormal pyramidal sign, Hypertonia, Dystonia, Bradykinesia, Tremor, Spasticity, Ankle clonus OMIM:617435
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor OMIM:618587
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Aicardi-Goutieres Syndrome 7
Spastic tetraparesis, Dystonia, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:615846
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia, Myoclonus, Tremor ORPHA:139485
Epilepsy, Progressive Myoclonic, 6
Ataxia, Myoclonus, Tremor OMIM:614018
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia, Cataract OMIM:257790
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Jaberi-Elahi Syndrome
Dysmetria, Dystonia, Choreoathetosis, Cataract, Gait ataxia, Spasticity, Tremor OMIM:617988
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Infantile Neuronal Ceroid Lipofuscinosis
Dysmetria, Dystonia, Myoclonic spasms, Ataxia, Spasticity, Chorea, Clumsiness, Poor fine motor co... ORPHA:79263
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Tetraplegia, Clonus, Spasticity, Cardiomegaly ORPHA:3137
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Neuroectodermal Melanolysosomal Disease
Tremor, Ataxia, Rigidity, Spasticity, Hypertonia ORPHA:33445
Galactosemia
Action tremor, Dystonia, Cataract, Ataxia, Jaundice, Speech apraxia, Hepatomegaly, Postural tremo... ORPHA:352
Amoebic Keratitis