Gene Summary

Name:
wingless-type MMTV integration site family, member 1
Synonyms:
Int-1,  Wnt-1

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
increased circulating cholesterol level Wnt1tm1b(EUCOMM)Wtsi HET Early adult 2.56×10-06
preweaning lethality, incomplete penetrance Wnt1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating creatinine level Wnt1tm1b(EUCOMM)Wtsi HET   Early adult 5.62×10-05
preweaning lethality, complete penetrance Wnt1tm1b(EUCOMM)Wtsi HOM Early adult 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 N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb 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)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Section

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Wnt1 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 Wnt1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Idiopathic Juvenile Osteoporosis
Gait disturbance ORPHA:85193
Osteogenesis Imperfecta, Type Xv
Cerebellar hypoplasia, Hypoplasia of the pons OMIM:615220

The table below shows human diseases predicted to be associated to Wnt1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Atonic-Astatic Syndrome Of Foerster
Generalized hypotonia, Inability to walk, Hypotonia, Abasia, Ataxia OMIM:209100
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Hypotonia, Appendicular hypotonia, Ataxia OMIM:619333
Hydrocephaly-Cerebellar Agenesis Syndrome
Hypotonia, Cerebellar agenesis, Ataxia ORPHA:1397
Cerebellar Ataxia, Cayman Type
Broad-based gait, Generalized hypotonia, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonp... ORPHA:94122
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... ORPHA:101010
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Spastic Paraplegia 88, Autosomal Dominant
Ventriculomegaly, Hypoplasia of the brainstem, Distal sensory impairment, Ankle clonus, Cerebella... OMIM:620106
Spinocerebellar Ataxia Type 5
Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech ORPHA:98766
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Hypotonia, Tremor, Ataxia OMIM:213000
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy OMIM:605388
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... OMIM:617018
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Generalized hypotonia, Cerebellar vermis atrophy, Difficulty walking, Limb ataxia, Truncal ataxia ORPHA:363432
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Parkins... OMIM:619565
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Pontocerebellar atrophy, ... OMIM:616053
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Cerebellar atrophy, Cerebellar ataxia associated with quadrupe... OMIM:615268
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... ORPHA:171622
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Impaired distal propri... OMIM:619742
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617133
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617769
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Broad-based gait, Cerebellar atrophy, Generalized hypotonia, Cerebellar vermis atroph... ORPHA:284332
Spastic Paraplegia 72A, Autosomal Dominant
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... OMIM:615625
Joubert Syndrome 25
Generalized hypotonia, Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:616781
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:117210
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag... OMIM:220200
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Generalized hypotonia, Hypotonia, Gait ataxia, Dysmetria, Clumsin... OMIM:608029
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Generalized dystonia, Cerebellar vermis atrophy, Inability to walk, Hypotonia... OMIM:619389
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Hypotonia, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon OMIM:601374
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Pontocerebellar atrophy, ... ORPHA:423275
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Ventriculomegaly, Hypoplasia of the brainstem, Inability to walk, Death in childhood, Cerebellar ... OMIM:616486
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Lower limb spasticity, Ataxia, Truncal at... OMIM:616948
Chudley-Mccullough Syndrome
Ventriculomegaly, Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus callosum, Hydroc... OMIM:604213
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia OMIM:617584
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe... OMIM:615957
Ataxia-Tapetoretinal Degeneration Syndrome
Hypotonia, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Ataxia ORPHA:1178
Spinocerebellar Ataxia 29
Diffuse cerebellar atrophy, Cerebellar vermis hypoplasia, Broad-based gait, Truncal titubation, C... OMIM:117360
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Neonatal hypotonia, Hypotonia, Action tremor, Abnormality of extrapyramidal m... OMIM:302500
Alexander Disease
Increased CSF protein concentration, Spasticity, Death in childhood, Dysmetria, Death in infancy,... OMIM:203450
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... ORPHA:363710
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Generalized neonatal hypotonia, Action tremor, Cerebellar hypoplasi... ORPHA:314978
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia OMIM:611694
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Hypotonia, Limb ataxia, Gait ... OMIM:616127
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Cerebellar atrophy, Abnormal posturing, Generalized dystonia, Generalized hypotoni... OMIM:128100
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Inferior cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Hypoplasia of the br... OMIM:224050
Intellectual Developmental Disorder, Autosomal Recessive 69
Spasticity, Hypotonia, Cerebellar hypoplasia, Ataxia, Facial hypotonia OMIM:618383
Nescav Syndrome
Spasticity, Cerebellar atrophy, Generalized hypotonia, Cerebellar vermis atrophy, Inability to wa... OMIM:614255
Huntington Disease-Like 1
Involuntary movements, Cerebellar atrophy, Abnormal posturing, Generalized hypotonia, Incoordinat... ORPHA:157941
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Hypoplasia of the brainstem, Death in infancy, Agenesis of corpus callosu... OMIM:619301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Pineocytoma
Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia ORPHA:251912
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Hydrocephalus ORPHA:2703
Meckel Syndrome 13
Occipital encephalocele, Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:617562
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Myoclonus, Rigidity, Ataxia, Intention tremor OMIM:618876
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Gait ataxia, Limb ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... OMIM:615768
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Impaired pain sensation, Abnormal brainstem morphology, Abnormal ce... ORPHA:1532
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Agenesis of corpus callosum, Dystonia, Babi... ORPHA:453521
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Atrophy/De... OMIM:616230
Spinocerebellar Ataxia, Autosomal Recessive 15
Gait ataxia, Unsteady gait, Cerebellar atrophy, Ataxia OMIM:615705
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Camos Syndrome
Spasticity, Hypotonia, Aplasia/Hypoplasia of the cerebellum, Ataxia, Progressive extrapyramidal m... ORPHA:83472
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Hypotonia, Gait ataxia, Cerebellar hypoplasia, Dystonia, At... OMIM:601238
Spastic Ataxia-Corneal Dystrophy Syndrome
Hemiplegia/hemiparesis, Spastic ataxia, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, A... ORPHA:2572
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Generalized hypotonia, Cerebellar vermis atrophy, Incoordination, Dilated fourth vent... OMIM:213200
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Death in infancy, Agenesis of corpus callosum, Cerebellar hypoplasia... OMIM:619302
Adult Krabbe Disease
Abnormal midbrain morphology, Increased CSF protein concentration, Broad-based gait, Abnormal med... ORPHA:206448
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Ceroid Lipofuscinosis, Neuronal, 8
Myoclonus, Cerebellar atrophy, Loss of ambulation, Ataxia OMIM:600143
Spinocerebellar Ataxia, Autosomal Recessive 12
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Babinski sig... OMIM:614322
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti... OMIM:610357
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Generalized hypotonia, Cerebellar vermis atrophy, Inability to walk, Chorea, Gait ataxia, Dysmetr... OMIM:618501
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Dystonia 23
Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dystonia, Gait disturbance, Tort... OMIM:614860
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria... ORPHA:98762
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Generalized hypotonia, Cerebellar vermis atrophy, Limb ataxia, Gait ... ORPHA:98763
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Cerebellar atrophy, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait, Intent... OMIM:615386
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Tremor, Gait disturbance, Normal pressure hydrocephalus, Kinetic tremor OMIM:611808
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Cerebellar vermis atrophy, Incoordination, Hypotonia, Gait ataxia, Dysmetria,... OMIM:616204
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis ORPHA:2807
Epilepsy, Progressive Myoclonic 7
Myoclonus, Cerebellar atrophy, Tremor, Ataxia OMIM:616187
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Hemiplegia/hemiparesis, Cerebral palsy, Ataxia ORPHA:99966
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Generalized hypotonia, Hypotonia, Elongated superior cerebellar ped... OMIM:609583
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Hypotonia, Positive Romberg sign, Dysmetria, Loss of ambulation, ... OMIM:618088
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Generalized hypotonia, Hypotonia, Gait imbalance, Myoclonus, Ataxia, Unsteady... OMIM:301020
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... OMIM:607565
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... ORPHA:101110
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Abnormal b... ORPHA:370022
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Inability to walk, Generalized hypoton... OMIM:618273
Joubert Syndrome 31
Truncal ataxia, Ventriculomegaly, Oculomotor apraxia, Molar tooth sign on MRI OMIM:617761
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Bab... OMIM:611302
Spinocerebellar Ataxia 12
Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiado... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... OMIM:614831
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Hypotonia, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Atax... OMIM:617916
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Abnormal cerebellum morphology, Positive Romberg sign, Gait ataxia, Babinski sign... OMIM:608984
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Parkinson... ORPHA:98759
Spinocerebellar Ataxia 49
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ... OMIM:619806
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Multiple Mitochondrial Dysfunctions Syndrome 6
Spasticity, Cerebellar atrophy, Inability to walk, Hypotonia, Dysmetria, Atrophy/Degeneration aff... OMIM:617954
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysdiadochokinesis, Generalized hypotonia, Cerebellar vermis atrophy, Gait at... ORPHA:208513
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Hypotonia, Li... OMIM:600224
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Cerebellar vermis atrophy, Dilated fourth ventricle, Hypotonia, Limb dystonia, Babinski sign, Tor... OMIM:619054
Spinocerebellar Ataxia 44
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus, Ataxia OMIM:618709
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria OMIM:617770
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hypoplasia of the brainstem, Inability to walk, Cerebellar hypoplasia, Hydrocephalus, Hypertonia,... OMIM:618174
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Abnormal posturing, Hemiplegia, Cho... ORPHA:225147
Joubert Syndrome 24
Spasticity, Hypotonia, Dysmetria, Cerebellar hypoplasia, Gait disturbance, Ataxia OMIM:616654
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr... OMIM:617145
Dystonia 22, Juvenile-Onset
Cerebellar atrophy, Dysdiadochokinesis, Generalized dystonia, Laryngeal dystonia, Dysmetria, Lowe... OMIM:620453
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, Cerebellar atrophy, Hypotonia, Limb ataxia, Limb dystonia, Abnormal pyramidal sign, H... OMIM:617560
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Limb ataxia, Babinski sign, Progressive gait ataxia, Truncal ataxia, Progress... ORPHA:101112
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... OMIM:617633
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dys... ORPHA:101070
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Joubert Syndrome 30
Ventriculomegaly, Cerebellar atrophy, Agenesis of corpus callosum, Molar tooth sign on MRI, Super... OMIM:617622
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar vermis hypoplasia, Spasticity, Impaired vibratory sensation, Cerebellar atrophy, Diffi... ORPHA:98
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Oral motor hypotonia, Chorea, My... ORPHA:248111
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Ventriculomegaly, Tetraparesis, Increased CSF lactate, Abnormal brainstem morphology, Abnormal CS... ORPHA:255182
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia OMIM:614229
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia... ORPHA:397946
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Hypoplasia of the brainstem, Dila... OMIM:610688
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Abnormal posturing, Generalized dystonia, Inability to walk, Opisthoton... ORPHA:216866
Coach Syndrome 2
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Oculomotor apraxia, Hydrocephalus, Mol... OMIM:619111
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Trun... OMIM:607346
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Cerebellar atrophy, Inability to walk, Hypotonia, Gait ataxia, Ataxia OMIM:617915
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,... ORPHA:98772
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Midline brainstem cleft, Agenesis of corpus callosum, Hemiparesis, Hydroc... OMIM:617542
Masa Syndrome
Spastic paraplegia, Shuffling gait, Ventriculomegaly, Paraplegia, Agenesis of corpus callosum, Lo... OMIM:303350
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Dilated fourth ventricle, Hypotonia, Gait ataxia, Cerebellar hypoplasia, Head t... OMIM:620208
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... OMIM:616795
Spinocerebellar Ataxia Type 2
Fasciculations, Abnormal substantia nigra morphology, Chorea, Postural tremor, Gait ataxia, Parki... ORPHA:98756
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation ORPHA:98771
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cere... OMIM:613153
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Cerebellar dentate nucleus calcification, Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyr... OMIM:618317
Spinocerebellar Ataxia 4
Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel... OMIM:600223
Fried Syndrome
Abnormal cerebellum morphology, Gait disturbance, Hydrocephalus, Spastic diplegia ORPHA:85335
Joubert Syndrome 32
Oculomotor apraxia, Abnormal cerebellum morphology, Molar tooth sign on MRI, Ataxia OMIM:617757
Corpus Callosum, Partial Agenesis Of, X-Linked
Inferior cerebellar vermis hypoplasia, Ventriculomegaly, Spasticity, Cerebellar hypoplasia, Hydro... OMIM:304100
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Cerebellar atrophy, Dysdiadochokinesis, Dysmetria, Progressive gait ataxia, Truncal a... ORPHA:352403
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Somatic sensory dysfunction, Hand tremor, Impaired pain sensation, ... ORPHA:99947
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Dysdiadochokinesis, Chorea, Hypotonia, Gait ataxia, Dysmetria, Dystonia, Lowe... OMIM:604391
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized hypotonia, Tremor, Rigidity, Chiari type I malformation, Dystonia, Ataxia, Bradykinesia OMIM:617836
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, ... OMIM:618093
2,4-Dienoyl-Coa Reductase Deficiency
Spasticity, Ventriculomegaly, Cerebellar atrophy, Incoordination, Increased CSF lactate, Death in... OMIM:616034
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Elo... OMIM:608629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Inability to walk, Cerebellar dysplasi... OMIM:613155
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Progressive spastic paraplegia, Babinski sign, Gait disturbance, Ataxia OMIM:612020
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cerebellar hypoplasia, Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem ORPHA:352682
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Paresthesia, Babinski sign, Hydrocepha... ORPHA:73256
Hydrolethalus Syndrome 2
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Molar tooth sign on MRI, Anencephaly OMIM:614120
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Limb myoclonus, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Ga... OMIM:619862
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Hol... OMIM:617967
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Cerebellar atrophy, Generalized hypotonia, Dilated fourth ventricle... ORPHA:251347
Spinocerebellar Ataxia 13
Spasticity, Cerebellar atrophy, Hypotonia, Limb ataxia, Limb dysmetria, Myoclonus, Gait ataxia, A... OMIM:605259
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Lissencephaly 5
Cerebellar vermis hypoplasia, Spastic paraplegia, Occipital encephalocele, Hypoplasia of the brai... OMIM:615191
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Generalized hypotonia, Hypotonia, Gait ataxia, Dysmetria, Ataxia OMIM:614306
Null Syndrome
Progressive spastic paraplegia, Difficulty walking, Inability to walk, Abnormal cerebellum morpho... ORPHA:280234
Spastic Ataxia 3, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Loss of ambula... OMIM:611390
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Progressive cerebellar ataxia, Cerebellar atroph... ORPHA:98755
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Difficulty walking, Head tremor, Hypotonia, Abnormality of extrapyramidal motor funct... ORPHA:280219
Joubert Syndrome 27
Hypotonia, Gait ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Axial hypotonia OMIM:617120
Congenital Disorder Of Glycosylation, Type Iii
Truncal ataxia, Hypotonia, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem OMIM:613612
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Spinocerebellar Ataxia 2
Spasticity, Action tremor, Parkinsonism, Ataxia, Unsteady gait, Bradykinesia, Progressive cerebel... OMIM:183090
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Abnormal pyramidal sign, Hydrocephalus, Ataxia, Palatal tremor ORPHA:363717
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Rhombencephalosynapsis, Ethmoidal encephalocele, Hypoplasia of the ... ORPHA:280195
Joubert Syndrome 33
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:617767
Joubert Syndrome 15
Exencephaly, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:614464
Spinocerebellar Ataxia 50
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, Action tremor,... OMIM:620158
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar ... ORPHA:98760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia,... OMIM:615181
Cerebellofaciodental Syndrome
Cerebellar hypoplasia, Hypoplasia of the midbrain, Hypoplasia of the pons, Cryptorchidism OMIM:616202
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Fasciculations, Axial hypotonia, Ankle clonus, Babinski sign, Abnormal pyrami... OMIM:618598
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Joubert Syndrome 16
Molar tooth sign on MRI, Oculomotor apraxia, Encephalocele, Dandy-Walker malformation OMIM:614465
Spinocerebellar Ataxia, Autosomal Recessive 28
Truncal titubation, Cerebellar vermis hypoplasia, Gait ataxia, Abnormal pyramidal sign, Poor fine... OMIM:618800
Spastic Ataxia, Charlevoix-Saguenay Type
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Falls, Cerebellar vermis atrophy, Pr... OMIM:270550
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Spastic ataxia, Oculom... OMIM:614487
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Generalized hypotonia, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxi... ORPHA:98768
Spinocerebellar Ataxia 34
Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Abnor... OMIM:133190
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Dystonia 37, Early-Onset, With Striatal Lesions
Generalized dystonia, Chorea, Hypotonia, Leg dystonia, Loss of ambulation, Oculomotor apraxia, At... OMIM:620427
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Ventriculomegaly, Hydrocephalus OMIM:614830
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Familial Paroxysmal Ataxia
Cerebellar vermis atrophy, Hemiplegia, Torticollis, Ataxia, Dystonia ORPHA:97
Ravine Syndrome
Abnormal brainstem morphology, Spasticity, Atrophy/Degeneration affecting the brainstem, Ataxia ORPHA:99852
Joubert Syndrome 28
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:617121
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:166024
Spinocerebellar Ataxia 36
Tongue fasciculations, Cerebellar atrophy, Fasciculations, Incoordination, Hypotonia, Limb ataxia... OMIM:614153
Joubert Syndrome 7
Hypoplasia of the brainstem, Brainstem dysplasia, Encephalocele, Oculomotor apraxia, Molar tooth ... OMIM:611560
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Papillary Tumor Of The Pineal Region
Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia ORPHA:251915
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Oculomotor apraxia, Molar t... OMIM:618161
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Spasticity, Cerebellar atrophy, Death in childhood, CSF lymphocytic pleiocytosi... OMIM:610333
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal... ORPHA:98773
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Cerebellar atrophy, Oculomotor apraxia, Abnormal pyramidal sign, Te... OMIM:616267
Chiari Malformation Type Ii
Cervical myelopathy, Chiari malformation, Myelomeningocele, Agenesis of corpus callosum, Opisthot... OMIM:207950
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Encephalocele, Tremor, Agenesis of corpus callosum, Oculomotor apra... ORPHA:220497
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Hypoplasia of the pons, Hypoplasia of the brainstem, A... ORPHA:370959
Band Heterotopia
Ventriculomegaly, Spasticity, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocep... OMIM:600348
Edinburgh Malformation Syndrome
Hydrocephalus, Death in infancy OMIM:129850
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Hypotonia, Cerebellar hypoplasia, Dystonic gait, Lower lim... ORPHA:280210
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Mohr-Tranebjaerg Syndrome
Dystonia, Spasticity, Abnormal posturing, Tremor OMIM:304700
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Spasticity, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenos... ORPHA:2182
Spinocerebellar Ataxia 6
Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of ambulation, Ataxia, Trunca... OMIM:183086
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the pons, Abnormal brainstem morpho... ORPHA:467166
Hydrocephalus, Congenital, X-Linked
Spastic paraplegia, Spasticity, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis OMIM:307000
Autosomal Recessive Spastic Paraplegia Type 75
Spastic paraplegia, Spasticity, Impaired vibratory sensation, Generalized hypotonia, Dysmetria, B... ORPHA:459056
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag... OMIM:220220
Coach Syndrome 3
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:619113
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hydrocephalus, Tremor, Spastic tetraparesis OMIM:619470
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Lateral ventricle dilatation, Abnormal brainstem morp... ORPHA:300573
Hemangioblastoma
Hydrocephalus, Dysesthesia, Cerebellar edema, Cerebellar hemangioblastoma ORPHA:252054
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired proprioception, Clumsiness, Gait d... OMIM:277460
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Acalvaria
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida ORPHA:945
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Joubert Syndrome 18
Agenesis of cerebellar vermis, Occipital encephalocele, Molar tooth sign on MRI, Agenesis of corp... OMIM:614815
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Meningocele, Agenesis of cerebellar vermis... OMIM:611134
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Abnormal cerebellum morphology, Loss of ambulation, Babinski sign, Abnormal p... OMIM:610532
Joubert Syndrome 2
Enlarged fossa interpeduncularis, Dysgenesis of the cerebellar vermis, Hypoplasia of the brainste... OMIM:608091
Joubert Syndrome 22
Agenesis of cerebellar vermis, Oculomotor apraxia, Molar tooth sign on MRI OMIM:615665
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Cerebellar malformation, Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia OMIM:613909
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Encephalocele, Tremor, Agenesis of corpus callosum, Oculomotor apra... ORPHA:220493
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Hypoplasia of the brainstem, Akinesia, Agenesis of corpus call... OMIM:225790
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Encephalocele, Hydrocephalus, Molar to... OMIM:614424
Joubert Syndrome 20
Inability to walk, Oculomotor apraxia, Molar tooth sign on MRI OMIM:614970
Distal 7Q11.23 Microduplication Syndrome
Chiari malformation, Hydrocephalus, Frontal encephalocele ORPHA:261102
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration OMIM:179830
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Dysmetria OMIM:300804
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Joubert Syndrome 9
Ventriculomegaly, Oculomotor apraxia, Encephalocele, Molar tooth sign on MRI OMIM:612285
Muscle-Eye-Brain Disease
Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Hydrocephalus, Hy... ORPHA:588
Gillespie Syndrome
Cerebellar atrophy, Generalized hypotonia, Postural tremor, Cerebellar hypoplasia, Ataxia, Slurre... OMIM:206700
Developmental And Epileptic Encephalopathy 36
Abnormal pyramidal sign, Hydrocephalus, Abnormality of extrapyramidal motor function OMIM:300884
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Slc35A2-Cdg
Abnormal midbrain morphology, Cerebellar atrophy, Lateral ventricle dilatation, Inability to walk... ORPHA:356961
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventriculomegaly, Spasticity, Death in infancy, Neonatal death, Cerebellar hypoplasia OMIM:613730
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Hydrocephalus ORPHA:26
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Pontocerebellar Hypoplasia, Type 7
Tongue fasciculations, Spasticity, Spastic paraplegia, Ventriculomegaly, Hypoplasia of the pons, ... OMIM:614969
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Death in infancy OMIM:258320
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Spasticity, Abnormal brainstem morphology, Paresthesia, Myoclonus, Hemiplegia/hemiparesis, Abnorm... ORPHA:79279
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Cerebellar atrophy, Abnormal cerebellum morphology, Gait ataxia, Dysmetria, T... OMIM:618056
Joubert Syndrome 40
Oculomotor apraxia, Molar tooth sign on MRI OMIM:619582
Orofaciodigital Syndrome Xvi
Ventriculomegaly, Inability to walk, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:617563
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
L1 Syndrome
Spasticity, Hemiplegia/hemiparesis, Gait disturbance, Hydrocephalus, Aqueductal stenosis ORPHA:275543
Meckel Syndrome, Type 10
Occipital encephalocele, Dilated fourth ventricle, Cerebellar hypoplasia, Molar tooth sign on MRI... OMIM:614175
1Q21.1 Microduplication Syndrome
Hydrocephalus, Hypertonia ORPHA:250994
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Japanese Encephalitis
Abnormal midbrain morphology, Increased CSF protein concentration, Pill-rolling tremor, Abnormal ... ORPHA:79139
Joubert Syndrome 39
Pain insensitivity, Cerebellar vermis hypoplasia, Occipital encephalocele, Oculomotor apraxia, Mo... OMIM:619562
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Dysgenesis of the cerebellar verm... OMIM:213300
Joubert Syndrome 17
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:614615
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, Parkinsonism, ... OMIM:619911
Joubert Syndrome 8
Ataxia, Occipital encephalocele, Oculomotor apraxia, Molar tooth sign on MRI, Hypertonia OMIM:612291
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal brainstem morphology, Hydrocephalus, Age... ORPHA:163961
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Ataxia ORPHA:2318
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Hydrocephalus OMIM:618302
Melanosis, Neurocutaneous
Death in infancy, Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Coach Syndrome 1
Cerebellar vermis hypoplasia, Spasticity, Occipital encephalocele, Encephalocele, Oculomotor apra... OMIM:216360
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Nasu-Hakola Disease
Ventriculomegaly, Spasticity, Chorea, Oculomotor apraxia, Hydrocephalus ORPHA:2770
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Spasticity, Hypertonia ORPHA:411493
Kleeblattschaedel
Hydrocephalus OMIM:148800
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Tyrosinosis
Hypertyrosinemia OMIM:276800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Babinski sign, Spasticity, Abnormal pyramidal sign, Hydrocephalus OMIM:615599
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Spasticity, Ventriculomegaly, Difficulty walking, Rigidity, Cerebellar hypoplasia, Chiari type I ... OMIM:618476
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Babinski sign, Spasticity, Abnormal pyramidal sign, Hydrocephalus ORPHA:397951
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Hypoplasia of the brainstem, Cerebellar dysplasia, Encephalocele, Death in infa... OMIM:613150
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Hypertonia, A... ORPHA:2720
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Pettigrew Syndrome
Cerebellar vermis hypoplasia, Spasticity, Ventriculomegaly, Gait ataxia, Hydrocephalus, Aqueducta... OMIM:304340
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia OMIM:235800
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Galactokinase Deficiency
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma ORPHA:79237
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hypoplasia of the pons, ... OMIM:613154
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Cerebellar h... OMIM:619306
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Lennox-Gastaut Syndrome
Myoclonus, Abnormal brainstem morphology, Falls ORPHA:2382
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cerebellar atrophy, Abnormal brainstem morphology, Positive Romberg sign, Myoclonus, Dysmetria, I... OMIM:301310
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Laron Syndrome
Hypercholesterolemia ORPHA:633
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Dysgenesis of the cerebe... ORPHA:397715
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI OMIM:619185
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Cerebellar hypoplasia, Limb hypertonia, Hydrocephalus, Retrocerebel... OMIM:614219
Postencephalitic Parkinsonism
Abnormal CSF protein concentration, Involuntary movements, Resting tremor, Abnormal substantia ni... ORPHA:97349
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Increased CSF protein concentration, Abnormal medulla oblongata mor... ORPHA:68
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Rhombencephalosynapsis
Ventriculomegaly, Fusion of the cerebellar hemispheres, Abnormal dentate nucleus morphology, Hydr... ORPHA:59315
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Houge-Janssens Syndrome 2
Ventriculomegaly, Inability to walk, Gait ataxia, Agenesis of corpus callosum, Hydrocephalus OMIM:616362
Joubert Syndrome 5
Occipital encephalocele, Oculomotor apraxia, Thickened superior cerebellar peduncle, Molar tooth ... OMIM:610188
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Craniofacial Dyssynostosis With Short Stature
Chiari type I malformation, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:218350
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology, Gait ataxia, Intention tremor, Dysmetr... ORPHA:93256
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Oxoglutaric Aciduria
Hydrocephalus, Hypertonia, Ataxia ORPHA:31
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Spasticity, Cerebellar atrophy, Hydrocepha... OMIM:272200
Familial Acute Necrotizing Encephalopathy
Increased CSF protein concentration, Spasticity, Abnormal brainstem morphology, Rigidity, Gait di... ORPHA:88619
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Medulloblastoma
Cerebellar ataxia associated with quadrupedal gait, Dysmetria, Hydrocephalus, Ataxia, Cerebellar ... ORPHA:616
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Inferior cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia... ORPHA:444072
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Abnormal substantia nigra morpholog... ORPHA:289560
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Spasticity, Ventriculomegaly, Facial-lingual fasciculations, Myoclo... OMIM:617281
Pallister-Hall-Like Syndrome
Chiari type I malformation, Occipital encephalocele, Hydrocephalus, Death in infancy OMIM:241800
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Muscular Dystrophy-D