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 3.59×10-06
increased circulating creatinine level Wnt1tm1b(EUCOMM)Wtsi HET   Early adult 5.88×10-05
preweaning lethality, incomplete penetrance Wnt1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
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)
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)
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)
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 0.68% (3 of 443)
aorta 0.0%
blood 0.0%
bone marrow 0.0%
brain 1.13% (5 of 443)
brainstem 0.46% (2 of 437)
brown adipose tissue 0.0%
cartilage tissue 0.23% (1 of 436)
cecum 4.84% (14 of 289)
cerebellum 0.7% (3 of 430)
cerebral cortex 0.22% (1 of 451)
chest bone Unavailable
colon 13.89% (15 of 108)
diaphragm 0.0%
duodenum 3.06% (3 of 98)
epididymis 13.68% (16 of 117)
esophagus 1.63% (5 of 307)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.96% (1 of 104)
heart 0.0%
hindlimb 0.0%
hippocampus 0.46% (2 of 436)
hypothalamus 0.23% (1 of 436)
ileum 16.19% (17 of 105)
jejunum 8.82% (9 of 102)
kidney 4.98% (22 of 442)
large intestine 4.92% (21 of 427)
liver 0.0%
lower urinary tract 0.0%
lung 0.45% (2 of 443)
lymph node 0.23% (1 of 426)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.42% (1 of 240)
midbrain 0.0%
olfactory lobe 0.22% (1 of 446)
ovary 0.0%
oviduct 0.0%
pancreas 0.92% (4 of 437)
parathyroid gland 0.23% (1 of 432)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.23% (1 of 444)
peyers patch 0.0%
pituitary gland 0.24% (1 of 416)
prostate gland 1.85% (8 of 433)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 4.73% (21 of 444)
spinal cord 0.66% (3 of 453)
spleen 0.46% (2 of 434)
stomach 3.87% (17 of 439)
stomach pyloric region 0.0%
striatum 0.46% (2 of 438)
sublingual gland 0.0%
submandibular gland 0.96% (1 of 104)
testis 1.12% (5 of 446)
thymus 0.23% (1 of 440)
thyroid gland 2.51% (11 of 438)
tongue 5.49% (5 of 91)
trachea 0.46% (2 of 433)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.44% (2 of 459)
vagina 0.0%
vas deferens 4.66% (13 of 279)
vascular system 0.0%
vesicular gland 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)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

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

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Adult LacZ

LacZ Images Section

4 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
Hypoplasia of the pons, Cerebellar hypoplasia 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
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk, Generalized hypotonia, Hypotonia OMIM:209100
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Ataxia, Inability to walk, Generalized hypotonia, Cerebellar hypoplasia, Spastic tetraplegia, Hyp... OMIM:618174
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Azotemia, Familial
Azotemia OMIM:109160
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Generalized hypotonia, Cerebellar hypoplasia, Tremor, Hypotonia OMIM:213000
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Appendicular hypotonia, Ataxia, Inability to walk, Cerebellar atrophy, Hypotonia OMIM:619333
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia, Hypotonia ORPHA:1397
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Generalized hypotonia, Cere... ORPHA:94122
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Autosomal Spastic Paraplegia Type 30
Ataxia, Diffuse cerebellar atrophy, Babinski sign, Distal sensory impairment, Somatic sensory dys... ORPHA:101010
Spinocerebellar Ataxia Type 5
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy ORPHA:98766
Spinocerebellar Ataxia 41
Ataxia, Cerebellar atrophy, Unsteady gait OMIM:616410
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy OMIM:605388
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617769
Spinocerebellar Ataxia Type 30
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia ORPHA:211017
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal p... OMIM:619565
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... OMIM:617018
Cerebellar Ataxia And Albinism
Ataxia, Head tremor, Olivopontocerebellar atrophy OMIM:258300
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Limb ataxia, Generalized hypotonia, Truncal ataxia, Difficulty walking ORPHA:363432
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Autosomal Recessive Spastic Paraplegia Type 32
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Babinski sign, Progres... ORPHA:171622
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle, Truncal ataxia, Partial absence of cerebellar vermis, Ag... OMIM:220200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Babinski sign, Frequent falls, Impaired distal vibration sensation, Spasticity, Cerebella... OMIM:619742
Spinocerebellar Ataxia 37
Ataxia, Frequent falls, Tremor, Cerebellar atrophy, Unsteady gait OMIM:615945
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Cerebellar atrophy, Gait ataxia, Limb ataxia OMIM:617133
Hydrocephalus With Cerebellar Agenesis
Cerebellar agenesis, Hydrocephalus OMIM:307010
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... ORPHA:284332
Spinocerebellar Ataxia 38
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:615957
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Cerebellar atrophy OMIM:615268
Spinocerebellar Ataxia 31
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:117210
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Clumsiness, Dysmetria, Intention tremor, Generalized hypotonia, Gait ataxia, Spasticity, ... OMIM:608029
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait, Cerebellar atrophy, Hypotonia OMIM:617917
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Spinocerebellar Ataxia, Autosomal Recessive 29
Ataxia, Inability to walk, Cerebellar vermis atrophy, Iron accumulation in substantia nigra, Cere... OMIM:619389
Spinocerebellar Ataxia 35
Torticollis, Loss of ambulation, Ataxia, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Spinocerebellar Ataxia 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... OMIM:616053
Joubert Syndrome 25
Ataxia, Generalized hypotonia, Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI OMIM:616781
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... ORPHA:423275
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia, Absent mesencephalon OMIM:601374
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Cere... OMIM:616948
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus ... OMIM:604213
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Ataxia, Inability to walk, Death in childhood, Death in adolescence, Cerebellar hypoplasia, Ventr... OMIM:616486
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Alexander Disease
Hydrocephalus, Ataxia, Dysmetria, Death in childhood, Babinski sign, Death in adolescence, Abnorm... OMIM:203450
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Dysmetria, Babinski sign, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:615771
Ataxia-Tapetoretinal Degeneration Syndrome
Gait disturbance, Ataxia, Aplasia/Hypoplasia of the cerebellum, Hypotonia ORPHA:1178
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Action tremor, Intention tremor, Nonprogressive cerebellar ataxia, Cerebellar hypopla... ORPHA:314978
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Dystonia With Cerebellar Atrophy
Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia, Cerebellar atrophy, Dystonia OMIM:611694
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Appendicular hypotonia, Ataxia, Clumsiness, Limb ataxia, Dysmetria, Intention t... OMIM:616127
Spinocerebellar Ataxia 29
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Dysm... OMIM:117360
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Neonatal hypotonia, Intention tremor, Cerebellar atrophy OMIM:302500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Generalized hypotonia, Atrophy/Degeneration affecting the brainstem, Tr... OMIM:617862
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Ataxia, Inability to walk, Generalized hypotonia, Cerebellar hypoplasia, Unsteady gait, Oculomoto... OMIM:618273
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Generalized hypotonia, Simulta... ORPHA:157941
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Generalized hy... OMIM:128100
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Limb ataxia, Babinski sign, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:614322
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy OMIM:616291
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cerebellar vermis morphology, Cerebellar hypoplasia ORPHA:2703
Pineocytoma
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia ORPHA:251912
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Generalized hypotonia, Cerebellar hypoplasia, Tremor, Gait ataxia... OMIM:213200
Meckel Syndrome 13
Ataxia, Cerebellar hypoplasia, Oculomotor apraxia, Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Cerebellar vermis hypoplasia, Cerebellar atrophy OMIM:618876
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Infantile muscular hypotonia, Dysmetria, Oculomotor apraxia, Intention tremor, Nonpro... ORPHA:453521
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Cerebellar hypoplasia, Truncal ataxia, Tremor, Spastici... OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 15
Ataxia, Gait ataxia, Cerebellar atrophy, Unsteady gait OMIM:615705
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Broad-based gait, Dysmetria, Intention tremor, Dysdiadochokinesis, Generalized hypotonia, Truncal... OMIM:224050
Intellectual Developmental Disorder, Autosomal Recessive 69
Ataxia, Facial hypotonia, Cerebellar hypoplasia OMIM:618383
Neurodegeneration With Brain Iron Accumulation 7
Loss of ambulation, Ataxia, Dysmetria, Generalized hypotonia, Spasticity, Cerebellar atrophy OMIM:617916
Spinocerebellar Ataxia 23
Dysmetria, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Tremor, G... OMIM:610245
Adult Krabbe Disease
Hemiplegia, Broad-based gait, Abnormal pons morphology, Ataxia, Acroparesthesia, Clumsiness, Hoff... ORPHA:206448
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Atrophy/Degeneration affecting t... OMIM:616230
Camos Syndrome
Ataxia, Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramidal movement disorder, Spast... ORPHA:83472
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... OMIM:611302
Gómez-López-Hernández Syndrome
Hydrocephalus, Abnormal cerebellum morphology, Ataxia, Abnormal brainstem morphology, Cerebellar ... ORPHA:1532
Spastic Ataxia-Corneal Dystrophy Syndrome
Ataxia, Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Spastic a... ORPHA:2572
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Atrophy of the dentate nucleus, Dystonia OMIM:125370
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Lissencephaly 3
Ataxia, Generalized hypotonia, Cerebellar vermis hypoplasia, Spastic tetraplegia, Hypotonia, Agen... OMIM:611603
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia, Cerebellar atrophy OMIM:616187
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Generalized hypotonia, Rigidity, Gait disturbance, Tremor, Cerebell... OMIM:618090
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Cerebellar atrophy, Spastic g... OMIM:610357
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Cerebellar... OMIM:614860
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Gait disturbance, Progressive spasticity, Tremor, Cerebellar at... OMIM:210000
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... OMIM:613728
Spinocerebellar Ataxia 46
Dysmetria, Limb ataxia, Positive Romberg sign, Gait ataxia, Cerebellar atrophy OMIM:617770
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Death ... OMIM:619302
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Generalized hypotonia, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Hy... OMIM:612016
Atypical Teratoid Rhabdoid Tumor
Cerebral palsy, Hydrocephalus, Hemiplegia/hemiparesis, Ataxia ORPHA:99966
Spinocerebellar Ataxia Type 12
Ataxia, Abnormal cerebellum morphology, Action tremor, Poor fine motor coordination, Bradykinesia... ORPHA:98762
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Spinocerebellar Ataxia Type 14
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Generalized hyp... ORPHA:98763
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Gait disturbance, Tremor, Kinetic tremor, Ventriculomegaly OMIM:611808
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Cerebellar vermis atrophy, Dysmetria, Chorea, Gait ataxia, Axial hypot... OMIM:618501
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Spinocerebellar Ataxia, Autosomal Recessive 18
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... OMIM:616204
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Severe muscular hypotonia, Ataxia, Generalized hypotonia, Cerebellar hypoplasia OMIM:616917
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormal cerebellum morphology, Myoclonus, Babinski sign, Tremor, Cerebellar atrophy, Abn... OMIM:615362
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Unsteady gait, Cerebellar atrophy ORPHA:284271
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Ataxia, Generalized hypotonia, Cerebellar vermis hypoplas... OMIM:609583
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle... OMIM:270500
Papilloma Of Choroid Plexus
Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis, Choroid plexus papilloma ORPHA:2807
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:1538
Spinocerebellar Ataxia, Autosomal Recessive 26
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... OMIM:617633
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Ataxia, Dilated fourth ventricle, Abnormal brainstem morp... ORPHA:370022
Spastic Paraplegia, Ataxia, And Mental Retardation
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... OMIM:607565
Joubert Syndrome 24
Ataxia, Dysmetria, Generalized hypotonia, Cerebellar hypoplasia, Gait disturbance, Spasticity, Hy... OMIM:616654
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Hydrocephalus, Ventriculomegaly, Ataxia OMIM:618709
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Joubert Syndrome 31
Oculomotor apraxia, Truncal ataxia, Molar tooth sign on MRI, Ventriculomegaly OMIM:617761
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Intention tremor, Infa... ORPHA:512260
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... OMIM:614831
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Cerebellar atrophy, Steppage gait OMIM:618387
Spinocerebellar Ataxia, Autosomal Recessive 8
Ataxia, Dysmetria, Limb ataxia, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:610743
Joubert Syndrome 27
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI OMIM:617120
Spinocerebellar Ataxia 5
Dysmetria, Limb ataxia, Impaired vibratory sensation, Intention tremor, Dysdiadochokinesis, Gener... OMIM:600224
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Progressive cerebellar ataxia, Dysmetria, Cerebellar hypoplasia, Spastic dysarthria, Gait ataxia,... ORPHA:314603
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partial agenesis of ... OMIM:304100
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Abnormal cerebellum morphology, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkins... OMIM:618317
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Ataxia, Cerebellar hypoplasia, Hypotonia ORPHA:2246
Ataxia-Oculomotor Apraxia 4
Ataxia, Cerebellar atrophy, Oculomotor apraxia, Dystonia, Tetraplegia OMIM:616267
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Blepharospasm, Cerebellar Purkinje layer atrophy, Abnormal pyramidal sign, R... ORPHA:98759
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Spinocerebellar Ataxia 49
Loss of ambulation, Ataxia, Dysmetria, Dysdiadochokinesis, Babinski sign, Unsteady gait, Cerebell... OMIM:619806
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Spinocerebellar Ataxia Type 29
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Generalized h... ORPHA:208513
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Inability to walk, Abnormality of extrapyramidal motor function, Generalized hypotonia, A... OMIM:615159
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:617691
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... ORPHA:284324
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Cerebellar vermis atrophy, Babinski sign, Dilated fourth ventricle, Frequent... OMIM:619054
Ataxia-Oculomotor Apraxia 3
Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Cerebellar atrophy, Oculomotor apraxia OMIM:615217
Joubert Syndrome 33
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI OMIM:617767
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... OMIM:609270
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Spinocerebellar Ataxia Type 26
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Cerebellar atrophy, Pr... ORPHA:101112
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Spasticity OMIM:600348
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Infantile muscular hypotonia, Bradykine... ORPHA:225147
Juvenile Huntington Disease
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... ORPHA:248111
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Motor stereotypy, Ataxia, Dilated fourth ventricle, Enlar... OMIM:610688
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Babinski sign, Abnormal pyram... OMIM:617225
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Abnormal cerebellum morphology, Abnormal pyramidal sign, Hypoplasia of the pons, ... ORPHA:101070
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar at... OMIM:616719
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal CSF pyruvate family amino acid concentration, Abnormal cerebellum morphology, Increased ... ORPHA:255182
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Ataxia, Abnormal pons morphology, Progressive cerebellar ataxia, Abnormal cerebellum morphology, ... ORPHA:98
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Cerebellar atrophy, Lower limb spasticity, Impaired tandem ... OMIM:619028
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Torticollis, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Head titubation, Spasticity, C... OMIM:617560
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Dysmetria, Titubation, Tremor, Unsteady gait, Cerebellar atrophy OMIM:619405
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:615386
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Dysmetria, Dysdiadochokinesis, Myoclonus, Cerebellar atrophy OMIM:256731
Coach Syndrome 2
Hydrocephalus, Cerebellar vermis hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Agenesi... OMIM:619111
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Akinesia, Cerebellar hypoplasia, Ventriculomegaly, Hydranencephaly, Agenesis of co... OMIM:225790
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Joubert Syndrome 17
Oculomotor apraxia, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Ataxia OMIM:614615
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Ataxia, Impaired vibration sensation at ankles, Limb ataxia, Poor coordination,... ORPHA:98772
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Atrophy/Degeneration affecting the brainstem, Limb myoclo... OMIM:619862
Joubert Syndrome 32
Oculomotor apraxia, Abnormal cerebellum morphology, Molar tooth sign on MRI, Ataxia OMIM:617757
Polymicrogyria, Bilateral Frontoparietal
Broad-based gait, Hypertonia, Dysmetria, Ankle clonus, Babinski sign, Hypoplasia of the pons, Tru... OMIM:606854
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Masa Syndrome
Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling gait, Ventriculomegaly, Lower limb spast... OMIM:303350
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Spinocerebellar Ataxia 26
Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Incoordination OMIM:609306
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Death in childhood, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cer... OMIM:613153
Joubert Syndrome 30
Superior cerebellar dysplasia, Ventriculomegaly, Cerebellar atrophy, Molar tooth sign on MRI, Dan... OMIM:617622
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Tip-toe gait, Dysmetria, Intention tremor, Babinski sign, Abnorma... ORPHA:397946
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Dysmetria, Generalized hypotonia, Choreoathetosis, Spasticity, Cerebellar atrophy, Dystonia OMIM:618088
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Hypoplasia of the pons, Hemiparesis, Midline brainstem cleft, Unsteady gait, Agene... OMIM:617542
Spastic Paraplegia 26, Autosomal Recessive
Ataxia, Abnormal cerebellum morphology, Tip-toe gait, Dysmetria, Babinski sign, Spastic paraplegi... OMIM:609195
Spinocerebellar Ataxia Type 2
Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Parkinsonism, Fasciculations, C... ORPHA:98756
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Opisthotonus, Tip-toe gait, Gait disturbance, Frequent falls, Spasticity, Abno... ORPHA:216866
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Babinski sign, Distal sensory impairment, Limb dysmetria, Cerebell... OMIM:600223
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Impaired vibration sensation at ankles, ... OMIM:616795
Spinocerebellar Ataxia 13
Progressive cerebellar ataxia, Limb ataxia, Generalized hypotonia, Abnormal pyramidal sign, Limb ... OMIM:605259
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis OMIM:300864
Fried Syndrome
Gait disturbance, Spastic diplegia, Hydrocephalus, Abnormal cerebellum morphology ORPHA:85335
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, S... ORPHA:352403
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Inability to walk by childhood/adolescence, Poor fine motor coordination, Hand tre... ORPHA:99947
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Ataxia, Spasticity, Abnormal brainstem morphology ORPHA:99852
Spastic Paraplegia 39, Autosomal Recessive
Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia, Cerebellar atrophy OMIM:612020
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Generalized hypotonia, Rigidity, Tremor, Chiari type I malformation, Dystonia OMIM:617836
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele, Cerebellar hypoplasia, Hypoplasia of the brainstem ORPHA:352682
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Gait imbalance, Progressive cerebellar ataxia, B... ORPHA:98755
Spinocerebellar Ataxia Type 18
Dysmetria, Head tremor, Somatic sensory dysfunction, Titubation, Gait ataxia, Cerebellar atrophy ORPHA:98771
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Central Neurocytoma
Hydrocephalus, Pain insensitivity, Ataxia, Babinski sign, Paresthesia, Abnormal lateral ventricle... ORPHA:73256
Peroxisome Biogenesis Disorder 5B
Ataxia, Neonatal hypotonia, Dysmetria, Generalized hypotonia, Tremor, Cerebellar atrophy, Unstead... OMIM:614867
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Tremor, Gait ataxia, Spas... ORPHA:1170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Hypoplasia of the pons, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Posi... OMIM:607136
Ataxia-Telangiectasia-Like Disorder
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Generalized hypotonia, Dilated fourth ve... ORPHA:251347
Lissencephaly 5
Hydrocephalus, Spastic paraplegia, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia... OMIM:615191
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Cerebellar atrophy, ... OMIM:618093
Cognitive Impairment With Or Without Cerebellar Ataxia
Ataxia, Dysmetria, Generalized hypotonia, Gait ataxia, Cerebellar atrophy, Hypotonia OMIM:614306
Null Syndrome
Ataxia, Inability to walk, Abnormal cerebellum morphology, Progressive spastic quadriplegia, Diff... ORPHA:280234
Pettigrew Syndrome
Hydrocephalus, Choreoathetosis, Gait ataxia, Ventriculomegaly, Spasticity, Dandy-Walker malformation OMIM:304340
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Spinocerebellar Ataxia, Autosomal Recessive 11
Ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy OMIM:614229
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Spinocerebellar Ataxia 2
Ataxia, Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Spasticity, Unsteady gait, Pos... OMIM:183090
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum, Ventriculomegaly, Molar tooth sign on MRI OMIM:617127
Septopreoptic Holoprosencephaly
Rhombencephalosynapsis, Hypoplasia of the pons, Abnormal midbrain morphology, Ethmoidal encephalo... ORPHA:280195
Congenital Disorder Of Glycosylation, Type Iii
Cerebellar atrophy, Truncal ataxia, Atrophy/Degeneration affecting the brainstem, Hypotonia OMIM:613612
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Dysmetria, Spastic paraparesis, Oculomotor apraxia, Dysdiadochokinesis, Myoclonus, Spasti... OMIM:614487
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Joubert Syndrome 15
Ataxia, Generalized hypotonia, Hypotonia, Oculomotor apraxia, Molar tooth sign on MRI OMIM:614464
Leukodystrophy, Hypomyelinating, 11
Ataxia, Myoclonus, Tremor, Spasticity, Cerebellar atrophy OMIM:616494
Spinocerebellar Ataxia Type 8
Ataxia, Cerebellar vermis atrophy, Bradykinesia, Limb ataxia, Impaired vibratory sensation, Hypop... ORPHA:98760
Joubert Syndrome 3
Elongated superior cerebellar peduncle, Ataxia, Enlarged fossa interpeduncularis, Cerebellar verm... OMIM:608629
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Head tremor, Athet... ORPHA:280219
Cerebellofaciodental Syndrome
Cryptorchidism, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain OMIM:616202
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Postural tremor OMIM:606658
Spinocerebellar ataxia 27
Ataxia, Limb ataxia, Impaired vibratory sensation, Truncal ataxia, Head tremor, Gait ataxia, Cere... OMIM:609307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly OMIM:614830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar dysplasia, Cerebellar cy... OMIM:615181
Spinocerebellar Ataxia 34
Ataxia, Limb ataxia, Intention tremor, Dysdiadochokinesis, Abnormal pyramidal sign, Gait ataxia, ... OMIM:133190
Joubert Syndrome 16
Oculomotor apraxia, Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:166024
Spinocerebellar Ataxia 36
Hypertonia, Ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Fasciculations, Gait ataxia, Cere... OMIM:614153
Joubert Syndrome 28
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI OMIM:617121
Familial Paroxysmal Ataxia
Torticollis, Hemiplegia, Ataxia, Cerebellar vermis atrophy, Dystonia ORPHA:97
Spinocerebellar Ataxia, Autosomal Recessive 28
Truncal titubation, Poor fine motor coordination, Abnormal pyramidal sign, Cerebellar vermis hypo... OMIM:618800
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Death in childhood, Ventriculomegaly, Cerebellar atrophy, Spasticity, CSF lymphocy... OMIM:610333
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Brain stem compression, Hydrocephalus, Ataxia, Paraparesis, Aqueductal stenosis... ORPHA:1136
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Joubert Syndrome 35
Elongated superior cerebellar peduncle, Ataxia, Cerebellar vermis hypoplasia, Oculomotor apraxia,... OMIM:618161
Spinocerebellar Ataxia Type 13
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Generalized hypotonia, Titubation,... ORPHA:98768
Papillary Tumor Of The Pineal Region
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia ORPHA:251915
Joubert Syndrome With Renal Defect
Hydrocephalus, Ataxia, Gait disturbance, Tremor, Cerebellar vermis hypoplasia, Oculomotor apraxia... ORPHA:220497
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Myoclonus, Spasticity, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Joubert Syndrome 7
Ataxia, Oculomotor apraxia, Encephalocele, Molar tooth sign on MRI, Brainstem dysplasia, Hypoplas... OMIM:611560
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Spinocerebellar Ataxia Type 21
Akinesia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia... ORPHA:98773
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Edinburgh Malformation Syndrome
Hydrocephalus, Death in infancy OMIM:129850
Boucher-Neuhauser Syndrome
Ataxia, Spinocerebellar atrophy, Intention tremor, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:215470
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Ataxia, Opisthotonus, Chiari malformation, Spina bifida, Agenesi... OMIM:207950
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... OMIM:220220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Anencephaly, Cerebellar hypoplasia, Ventriculomegaly, Spasticity, Occipital enceph... OMIM:615287
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Abnormal cerebellum morphology, Abnormal pyramidal sign, Dilated fourth ventricle,... ORPHA:370959
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Chorea, Frequent falls, Gait ataxia, Cerebellar atrophy, Oculomotor apraxia, ... OMIM:604391
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Leukodystrophy, Hypomyelinating, 5
Loss of ambulation, Abnormal cerebellum morphology, Truncal titubation, Intention tremor, Babinsk... OMIM:610532
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Broad-based gait, Hydrocephalus, Tremor, Spastic tetraparesis OMIM:619470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar hypoplasia, Inability to walk, Cerebellar dysplasia OMIM:613155
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Hemiplegia/hemiparesis, Aqueductal stenosis, Holoprosencephaly, Spasticity, Agenes... ORPHA:2182
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Acalvaria
Hydrocephalus, Spina bifida, Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly ORPHA:945
Hemangioblastoma
Dysesthesia, Hydrocephalus, Cerebellar edema, Cerebellar hemangioblastoma ORPHA:252054
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Cerebellar malformation, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Spastic paraplegia, Spasticity, Agenesis of corpus callosum OMIM:307000
Pelizaeus-Merzbacher Disease, Connatal Form
Ataxia, Inability to walk, Cerebellar hypoplasia, Titubation, Difficulty walking, Hypotonia, Lowe... ORPHA:280210
Coach Syndrome 3
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI OMIM:619113
Mohr-Tranebjaerg Syndrome
Dystonia, Spasticity, Tremor, Abnormal posturing OMIM:304700
Ataxia With Vitamin E Deficiency
Ataxia, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Positive Romber... OMIM:277460
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ataxia, Rigidity, Cerebellar hypoplasia, Ventriculomegaly, Spasticity, Spastic tet... OMIM:618476
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Cerebellar hypoplasia, Arrhinencephaly, Agenesis of corpus ... ORPHA:1528
Joubert Syndrome With Ocular Defect
Hydrocephalus, Ataxia, Gait disturbance, Tremor, Cerebellar vermis hypoplasia, Oculomotor apraxia... ORPHA:220493
Spinocerebellar Ataxia 32
Ataxia, Cerebellar atrophy OMIM:613909
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Autosomal Recessive Spastic Paraplegia Type 75
Dysmetria, Impaired vibratory sensation, Generalized hypotonia, Babinski sign, Abnormal pyramidal... ORPHA:459056
Meckel Syndrome, Type 4
Hydrocephalus, Anencephaly, Agenesis of cerebellar vermis, Meningocele, Bile duct proliferation, ... OMIM:611134
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Abnormal cerebellum morphology, Truncal titubation, Dysmetria, Tremor, Gait ataxia, C... OMIM:618056
Joubert Syndrome 22
Oculomotor apraxia, Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Joubert Syndrome 2
Elongated superior cerebellar peduncle, Hydrocephalus, Ataxia, Encephalocele, Dysgenesis of the c... OMIM:608091
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Meckel Syndrome, Type 10
Dilated fourth ventricle, Anencephaly, Cerebellar hypoplasia, Occipital encephalocele, Dandy-Walk... OMIM:614175
Joubert Syndrome 9
Oculomotor apraxia, Encephalocele, Molar tooth sign on MRI, Ventriculomegaly OMIM:612285
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Sensory ataxia, Babinski sign, Atrophy/Degeneration affecting the brainstem, Gait ataxia, Cerebel... ORPHA:445062
Gillespie Syndrome
Ataxia, Generalized hypotonia, Cerebellar hypoplasia, Cerebellar atrophy, Postural tremor, Slurre... OMIM:206700
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Hydrocephalus ORPHA:26
Orofaciodigital Syndrome Xvi
Ataxia, Inability to walk, Ventriculomegaly, Oculomotor apraxia, Molar tooth sign on MRI OMIM:617563
Muscle-Eye-Brain Disease
Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis, Holoprosencephaly, Aplasia/Hypoplasia of the c... ORPHA:588
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Abnormal brainstem morphology, Agenesis of cerebellar vermis, Cerebellar vermis hy... ORPHA:163961
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Chiari malformation, Frontal encephalocele ORPHA:261102
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum,... ORPHA:79279
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Oromotor apraxia, Abnormal brainstem morphology, Hemiparesis, Lateral ven... ORPHA:300573
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Death in infancy OMIM:258320
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function OMIM:300884
Pontocerebellar Hypoplasia, Type 7
Hypertonia, Hydrocephalus, Ataxia, Opisthotonus, Myoclonus, Hypoplasia of the pons, Cerebellar hy... OMIM:614969
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation, Death in infancy OMIM:249400
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Slc35A2-Cdg
Inability to walk, Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation, Ce... ORPHA:356961
Joubert Syndrome 40
Oculomotor apraxia, Molar tooth sign on MRI OMIM:619582
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Ataxia, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI ORPHA:2318
L1 Syndrome
Hydrocephalus, Hemiplegia/hemiparesis, Aqueductal stenosis, Gait disturbance, Spasticity ORPHA:275543
Joubert Syndrome 8
Hypertonia, Ataxia, Oculomotor apraxia, Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Cerebellar atrophy OMIM:618302
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia OMIM:617744
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Ataxia, Cerebellar vermis atrophy, Babinski sign, Abnormal pyramidal sign, Head t... ORPHA:64753
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Parkinsonism, Rigidity, Thi... OMIM:619911
Japanese Encephalitis
Hypertonia, Abnormal pons morphology, Opisthotonus, Respiratory paralysis, CSF pleocytosis, Pill-... ORPHA:79139
1Q21.1 Microduplication Syndrome
Hypertonia, Hydrocephalus ORPHA:250994
Coach Syndrome 1
Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Cerebellar vermis hypoplasia, Spasticity, Oc... OMIM:216360
Achondroplasia
Hydrocephalus, Brain stem compression OMIM:100800
Joubert Syndrome 1
Elongated superior cerebellar peduncle, Ataxia, Dysgenesis of the cerebellar vermis, Agenesis of ... OMIM:213300
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Joubert Syndrome 39
Pain insensitivity, Cerebellar vermis hypoplasia, Oculomotor apraxia, Occipital encephalocele, Mo... OMIM:619562
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Kleeblattschaedel
Hydrocephalus OMIM:148800
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Ataxia, Dyssynergia, Progressive cerebellar ataxia, Blepharospasm, Limb a... ORPHA:101
Pontocerebellar Hypoplasia Type 10
Hypertonia, Spasticity, Abnormal brainstem morphology ORPHA:411493
Joubert Syndrome 20
Oculomotor apraxia, Molar tooth sign on MRI OMIM:614970
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hypertonia, Hydrocephalus, Ataxia, Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morph... ORPHA:2720
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Nasu-Hakola Disease
Hydrocephalus, Chorea, Spasticity, Ventriculomegaly, Oculomotor apraxia ORPHA:2770
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Abnormal pyramidal sign, Hydrocephalus, Babinski sign, Spasticity OMIM:615599
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Partial absence of cerebellar vermis, Cerebellar hypoplasia, Ventriculomegaly, Cer... OMIM:613150
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Vacterl Association With Hydrocephalus
Hydrocephalus, Stillbirth, Aqueductal stenosis OMIM:276950
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Arima Syndrome
Occipital meningocele, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Dilated fourth ventri... OMIM:243910
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:277170
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormal pyramidal sign, Hydrocephalus, Babinski sign, Spasticity ORPHA:397951
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Abnormal cerebellum morphology, Ataxia, Abnormality of the cerebrospina... ORPHA:68
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Rhombencephalosynapsis, Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis hypopl... OMIM:619306
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Lennox-Gastaut Syndrome
Myoclonus, Falls, Abnormal brainstem morphology ORPHA:2382
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Laron Syndrome
Hypercholesterolemia ORPHA:633
Joubert Syndrome 37
Oculomotor apraxia, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619185
Rhombencephalosynapsis
Hydrocephalus, Ataxia, Agenesis of cerebellar vermis, Abnormal dentate nucleus morphology, Fusion... ORPHA:59315
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elongated superior cerebellar peduncle, Abnormal cerebellum morphology, Colpocephaly, Dilated thi... ORPHA:397715
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Chiari type I malformation, Agenesis of corpus callosum, Ventriculomegaly OMIM:218350
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Joubert Syndrome 18
Molar tooth sign on MRI OMIM:614815
Lhermitte-Duclos Disease
Hydrocephalus, Enlarged cerebellum, Ataxia ORPHA:65285
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Ataxia, Bradykinesia, Dysmetria, Intention tremor, Parkinsonism, Rigi... ORPHA:93256
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Inability to walk, Gait ataxia, Ventriculomegaly, Agenesis of corpus callosum OMIM:616362
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Oxoglutaric Aciduria
Hypertonia, Hydrocephalus, Ataxia ORPHA:31
Multiple Sulfatase Deficiency
Hydrocephalus, Ataxia, Ventriculomegaly, Cerebellar atrophy, Increased CSF protein, Spasticity OMIM:272200
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Familial Acute Necrotizing Encephalopathy
Hypertonia, Abnormal brainstem MRI signal intensity, Rigidity, Abnormal brainstem morphology, Gai... ORPHA:88619
Medulloblastoma
Hydrocephalus, Ataxia, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Cerebellar ata... ORPHA:616
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12