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 total protein level Wnt1tm1b(EUCOMM)Wtsi HET Early adult 1.01×10-05
increased circulating creatinine level Wnt1tm1b(EUCOMM)Wtsi HET   Early adult 6.50×10-05
increased circulating calcium level Wnt1tm1b(EUCOMM)Wtsi HET   Early adult 8.31×10-05
preweaning lethality, incomplete 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
Epididymis  Section images heterozygote 100% (1 of 1)
Testis  Section images heterozygote 100% (1 of 1)
Vas deferens  Section images heterozygote 100% (1 of 1)
Adrenal gland N/A heterozygote 0.0% (0 of 1)
Aorta N/A heterozygote 0.0% (0 of 1)
Blood N/A heterozygote 0.0% (0 of 1)
Bone marrow N/A heterozygote 0.0% (0 of 1)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 1)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 1)
Diaphragm N/A heterozygote 0.0% (0 of 1)
Duodenum N/A heterozygote 0.0% (0 of 1)
Esophagus N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 1)
Harderian gland N/A heterozygote 0.0% (0 of 1)
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 1)
Jejunum N/A heterozygote 0.0% (0 of 1)
Kidney N/A heterozygote 0.0% (0 of 1)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 1)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 1)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Olfactory lobe N/A heterozygote 0.0% (0 of 1)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Parotid gland N/A heterozygote 0.0% (0 of 1)
Penis N/A heterozygote 0.0% (0 of 1)
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 1)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 1)
Sciatic nerve N/A heterozygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 1)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 1)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 1)
Submandibular gland N/A heterozygote 0.0% (0 of 1)
Thymus N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 0.0% (0 of 1)
Tongue N/A heterozygote 0.0% (0 of 1)
Trachea N/A heterozygote 0.0% (0 of 1)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 1)
Urinary bladder N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 1)
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 Ambiguous
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% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
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 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

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 Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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
Osteogenesis Imperfecta, Type Xv
Schizencephaly, Cerebellar hypoplasia, Hypoplasia of the pons OMIM:615220
Idiopathic Juvenile Osteoporosis
Gait disturbance ORPHA:85193

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Generalized hypotonia, Abasia, Ataxia, Hypotonia OMIM:209100
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Hypoplasia of the brainstem, Generalized hypotonia, Cerebellar hypoplasia, Ata... OMIM:618174
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Generalized hypotonia, Cerebellar hypoplasia, Ataxia, Hypotonia OMIM:213000
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia, Hypotonia ORPHA:1397
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Ataxia, Cerebellar atrophy, Appendicular hypotonia, Hypotonia OMIM:619333
Adamantinoma
Hypercalcemia ORPHA:55881
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Azotemia, Familial
Azotemia OMIM:109160
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Cerebellar Ataxia, Cayman Type
Gait ataxia, Generalized hypotonia, Truncal ataxia, Nonprogressive cerebellar ataxia, Cerebellar ... ORPHA:94122
Mental Retardation, Autosomal Recessive 53
Severe muscular hypotonia, Cerebellar hypoplasia, Generalized hypotonia, Ataxia OMIM:616917
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Hypoplasia of the corpus callosum, Impaired vibration sensation in the lower ... ORPHA:171622
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Diffuse cerebellar atrophy, Ataxia, Somatic sensory dysfunction, ... ORPHA:101010
Spinocerebellar Ataxia Type 5
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy ORPHA:98766
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Dandy-Walker Syndrome
Truncal ataxia, Partial absence of cerebellar vermis, Posterior fossa cyst at the fourth ventricl... OMIM:220200
Spinocerebellar Ataxia 41
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:616410
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait OMIM:605388
Neuhauser-Eichner-Opitz Syndrome
Hypotonia, Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:2672
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia, Cerebellar vermis atrophy ORPHA:211017
Cerebellar Ataxia And Albinism
Head tremor, Olivopontocerebellar atrophy, Ataxia OMIM:258300
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Gait disturbance, Ataxia, Abnormal cerebellum morphology, Babinski sign OMIM:618418
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, R... OMIM:617018
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Generalized hypotonia, Truncal ataxia, Difficulty walking, Limb ataxia, Cerebellar vermis atrophy ORPHA:363432
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Generalized hypotonia, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy... OMIM:617917
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar dysplasia, Cerebellar hypoplasia,... OMIM:604213
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus, Cerebellar agenesis OMIM:307010
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Hypoplasia of the brainstem, Cerebellar hypoplasia, Ataxia, Polymicrogyria, Cortical dysplasia, M... OMIM:615771
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Generalized hypotonia, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait, Dysmetria, H... OMIM:616127
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Generalized hypotonia, Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progr... ORPHA:284332
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Spastic gait, Gait ataxia, Cerebellar atrophy OMIM:617133
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls OMIM:615945
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615957
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar atrophy, Truncal ataxia OMIM:615268
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, C... OMIM:617862
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Alexander Disease
Increased CSF protein, Hydrocephalus, Ataxia, Spasticity OMIM:203450
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Generalized hypotonia, Clumsiness, Spasticity, Ataxia, Cerebellar atrophy, Dysmetria... OMIM:608029
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Joubert Syndrome 25
Generalized hypotonia, Cerebellar hypoplasia, Oculomotor apraxia, Ataxia, Molar tooth sign on MRI OMIM:616781
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... OMIM:616053
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia, Aprosencephaly, Absent mesencephalon OMIM:601374
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... ORPHA:423275
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Ventriculomegaly, Megalencephaly, Cerebral atrophy, Diffuse s... OMIM:613925
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Stereotypy, Mi... OMIM:618709
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Cerebellar... OMIM:616948
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Babinski sign, Atrophy/Degeneration affecting ... OMIM:616192
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... OMIM:618730
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Cerebellar atrophy, Dysmetria, Intention... OMIM:613908
Ataxia-Tapetoretinal Degeneration Syndrome
Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Ataxia, Hypotonia ORPHA:1178
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Cogwheel rigidity, Tremor, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... ORPHA:363710
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Generalized neon... ORPHA:314978
Adult Krabbe Disease
Hemiplegia, Hoffmann sign, Clumsiness, Progressive spastic paraparesis, Impaired tactile sensatio... ORPHA:206448
Lissencephaly 3
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... OMIM:611603
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis OMIM:611694
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Generalized hypotonia, Tetraparesis, Ataxia, Dysplastic corpus callo... OMIM:618276
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Hypoplasia of the brainstem, Generalized hypotonia, Cerebellar hypoplasia, Ocu... OMIM:618273
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia, Hemiplegia/hemiparesis, Cerebral calcification, Cerebral palsy ORPHA:99966
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebellar hypoplasia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Abnormal cerebell... ORPHA:2703
Huntington Disease-Like 1
Gait ataxia, Generalized hypotonia, Abnormal posturing, Clumsiness, Incoordination, Chorea, Gait ... ORPHA:157941
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Babinski sign, Spasticity OMIM:614322
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Tremor, Ataxia, Spasticity OMIM:616494
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebellar atrophy, Simplified gyral... OMIM:613402
Spinocerebellar Ataxia, X-Linked 1
Neonatal hypotonia, Action tremor, Ataxia, Cerebellar atrophy, Intention tremor OMIM:302500
Pineocytoma
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251912
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Generalized hypotonia, Incoordination, Hypotonia, Limb ataxia, Cerebellar hy... OMIM:213200
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Generalized hypotonia, Gait disturbance, Cerebellar atrophy, Dysmetria... OMIM:618090
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Increased CSF lactate, Ventriculomegaly, Hypoplasia of the corpus ca... ORPHA:255182
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Unsteady gait, Cerebell... OMIM:615768
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Cerebellar atrophy, Myoclonus, Intention tremor, Rigidity OMIM:618876
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Inability to walk, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomega... OMIM:616486
Intellectual Developmental Disorder, Autosomal Recessive 69
Cerebellar hypoplasia, Facial hypotonia, Ataxia OMIM:618383
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Hypoplasia of the brainstem, Gait ataxia, Truncal ataxia, Generalized hypoton... OMIM:224050
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Gait ataxia, Cerebellar atrophy, Ataxia OMIM:615705
Camos Syndrome
Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramidal movement disorder, Spasticity, A... ORPHA:83472
Joubert Syndrome 31
Truncal ataxia, Hypoplasia of the corpus callosum, Ventriculomegaly, Oculomotor apraxia, Molar to... OMIM:617761
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus OMIM:615938
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Truncal ataxia, Clumsiness, Slurred speech, Cerebellar vermis hypoplasia, ... ORPHA:453521
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Ataxia, Abnormal cerebellum morphology, Abnormal brainstem morpholo... ORPHA:1532
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Neurodegeneration With Brain Iron Accumulation 7
Generalized hypotonia, Loss of ability to walk, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:617916
Spastic Ataxia-Corneal Dystrophy Syndrome
Aplasia/Hypoplasia of the cerebellum, Spastic ataxia, Gait disturbance, Ataxia, Hemiplegia/hemipa... ORPHA:2572
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Lissencephaly 5
Spastic paraplegia, Hypoplasia of the brainstem, Porencephalic cyst, Type II lissencephaly, Hypop... OMIM:615191
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Tremor, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Truncal ataxia, Ataxia OMIM:617584
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Dystonia, Agenesis of corpus callosum, Hypertonia, Cerebellar hypopl... OMIM:619302
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Cerebellar atrophy, M... OMIM:614860
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Ataxia, Ankle clonus, Spastic gait, Lower limb spasticity, Cerebellar atrophy... OMIM:610357
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Abnormal cerebellum morphology, Parkinsonis... OMIM:162350
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... OMIM:210000
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Oromotor apraxia, Attention deficit hyperactivity disorder, Pachygyria, ... ORPHA:300573
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Fascic... OMIM:613728
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Gait ataxia, Kinetic tremor, Cerebral white matter atrophy, Cerebellar... ORPHA:98756
Developmental And Epileptic Encephalopathy 37
Choreoathetosis, Generalized hypotonia, Gait disturbance, Hyperkinetic movements, Cerebellar atro... OMIM:616981
Spinocerebellar Ataxia 46
Positive Romberg sign, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria OMIM:617770
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Choreoathetosis OMIM:125370
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Meckel Syndrome 13
Oculomotor apraxia, Molar tooth sign on MRI, Cerebellar hypoplasia, Ataxia OMIM:617562
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Gait ataxia, Chorea, Muscular hypotonia of the trunk, Ataxia, Cerebellar vermi... OMIM:618501
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Generalized hypotonia, Limb ataxia, Progressive cerebellar ataxia, Somatic s... ORPHA:98763
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Generalized hypotonia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Myoclonus, Hy... OMIM:612016
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Generalized hypotonia, Cerebellar vermis hypoplasia, Ocul... OMIM:609583
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... OMIM:616204
Corpus Callosum, Partial Agenesis Of, X-Linked
Cerebellar hypoplasia, Spasticity, Inferior vermis hypoplasia, Microcephaly, Hydrocephalus, Parti... OMIM:304100
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Agenesis of corpus callosum, Fusion of the left and right thalami, Abnormality of the anterior co... OMIM:617542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Cerebellar cyst, Ventriculomegaly... OMIM:613153
Papilloma Of Choroid Plexus
Hemiplegia/hemiparesis, Hypertonia, Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Abnormal cerebellum morpholo... OMIM:270500
Polymicrogyria, Bilateral Frontoparietal
Hypoplasia of the brainstem, Truncal ataxia, Ventriculomegaly, Hypertonia, Cerebellar hypoplasia,... OMIM:606854
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Cerebellar atrophy ORPHA:284271
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Ventriculomegaly, Gait disturbance OMIM:611808
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Pontocerebellar Hypoplasia, Type 1A
Generalized hypotonia, Hypotonia, Cerebellar hypoplasia, Ataxia, Fasciculations, Hypoplasia of th... OMIM:607596
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Rhombencephalosynapsis, Abnormal midbrain morphology, Megal... ORPHA:280195
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Head titubation, Ataxia, Oculomotor apraxia, Dilated fourt... ORPHA:370022
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... OMIM:617633
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Lower limb spasticity, Spastic g... OMIM:607565
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Myoclonus, Ataxia OMIM:600143
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Bradykinesia, Muscular hypotonia of the trunk, Ankle clonus, ... OMIM:617013
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Joubert Syndrome 24
Generalized hypotonia, Hypotonia, Gait disturbance, Cerebellar hypoplasia, Ataxia, Dysmetria, Spa... OMIM:616654
Spinocerebellar Ataxia 28
Dystonia, Gait ataxia, Limb ataxia, Hypertonia, Cerebellar atrophy, Parkinsonism, Babinski sign, ... OMIM:610246
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Clumsiness, Progressive gait ataxia, Limb ataxia, Progressive cerebellar atax... ORPHA:1175
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Hypertonia, Ataxia, Myoclonus, Infantile muscular h... OMIM:612736
Spinocerebellar Ataxia Type 17
Dystonia, Cerebellar Purkinje layer atrophy, Chorea, Gait disturbance, Abnormal pyramidal sign, B... ORPHA:98759
Spinocerebellar Ataxia 5
Dysdiadochokinesis, Gait ataxia, Generalized hypotonia, Impaired vibratory sensation, Incoordinat... OMIM:600224
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Abnormal cerebellum morphology, ... OMIM:618317
Joubert Syndrome 27
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:617120
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar vermis hypoplasia, Cerebellar dysplasia... ORPHA:101070
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Steppage gait OMIM:618387
Spinocerebellar Ataxia, Autosomal Recessive 8
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:610743
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Cerebellar at... OMIM:605361
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Dystonia, Truncal ataxia, Limb ataxia, Neonatal hypotonia, Abnormal pyramidal sign, Head titubati... OMIM:617560
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hypoplasia of the brainstem, Type II lissencephaly, Abnormal cerebral white matter morphology, Ce... ORPHA:352682
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Gait ataxia, Spastic ataxia, Cerebellar hypoplasia, Progressive cerebellar ataxia, Dysm... ORPHA:314603
Ataxia-Oculomotor Apraxia 4
Dystonia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Tetraplegia OMIM:616267
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Musc... OMIM:614831
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Gait ataxia, Difficulty walking, Poor fine motor coordination, Infantile axial hypotonia, Cerebel... ORPHA:512260
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Cerebellar at... ORPHA:248111
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Cerebellar hypoplasia, Ataxia, Hypotonia ORPHA:2246
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Joubert Syndrome 32
Oculomotor apraxia, Ataxia, Abnormal cerebellum morphology, Polymicrogyria, Molar tooth sign on MRI OMIM:617757
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Generalized hypotonia, Oculomotor apraxia, Ataxia, Cerebellar at... ORPHA:208513
Ravine Syndrome
Ataxia, Abnormality of the basal ganglia, Abnormal brainstem morphology, Atrophy/Degeneration aff... ORPHA:99852
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Joubert Syndrome 33
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:617767
Fried Syndrome
Gait disturbance, Spastic diplegia, Abnormal cerebellum morphology, Cerebral calcification, Hydro... ORPHA:85335
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... OMIM:609270
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... OMIM:604326
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Dilated fourth ventricle, Torticollis, Cerebellar vermis atrophy, Limb dystonia, Babinski... OMIM:619054
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Frequent falls, Spasticity OMIM:617691
Spinocerebellar Ataxia Type 26
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar a... ORPHA:101112
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Agenesis of corpus callosum, Akinesia, Ventriculomegaly, Cerebellar ... OMIM:225790
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Generalized hypotonia, Abnormal posturing, Hypertonia, Blepharospasm, W... OMIM:128100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of ... OMIM:613154
Ataxia-Oculomotor Apraxia 3
Oculomotor apraxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Frequent falls OMIM:615217
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Cerebellar atrophy, Myoclonus, Dysme... OMIM:619028
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Dystonia, Tetraparesis, Ataxia, Abnormality of the basal... ORPHA:263410
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Abnormal posturing, Chorea, Gait disturbance, Resting tremor, ... ORPHA:225147
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Difficulty walking, Cerebe... ORPHA:98
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal sensory impairment, Frequent falls, Spast... OMIM:616719
Aicardi-Goutieres Syndrome 4
Dystonia, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebellar atrophy, D... OMIM:610333
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Ataxia, Abnormal cerebellum morphology, Babinski sign, Spasticity OMIM:618242
Masa Syndrome
Spastic paraplegia, Hydrocephalus, Ventriculomegaly, Lower limb spasticity, Microcephaly, Paraple... OMIM:303350
Coach Syndrome 2
Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Oculomotor apraxia, Molar tooth sign o... OMIM:619111
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Gait disturbance, Toe walking, Opisthotonus, Generalized d... ORPHA:216866
Central Neurocytoma
Lethargy, Paresthesia, Hydrocephalus, Pain insensitivity, Ataxia, Cerebral calcification, Babinsk... ORPHA:73256
Spinocerebellar Ataxia Type 19/22
Cogwheel rigidity, Truncal ataxia, Difficulty walking, Limb ataxia, Slurred speech, Poor coordina... ORPHA:98772
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Cerebellar atrophy, Myoclonus, Dysmetria OMIM:256731
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:615386
Pettigrew Syndrome
Gait ataxia, Ventriculomegaly, Abnormality of the basal ganglia, Cerebral calcification, Choreoat... OMIM:304340
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Unsteady... ORPHA:397946
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Joubert Syndrome 17
Oculomotor apraxia, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Ataxia OMIM:614615
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Spinocerebellar Ataxia 26
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Cerebellar atrophy OMIM:609306
Joubert Syndrome 30
Ventriculomegaly, Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Superio... OMIM:617622
Spinocerebellar Ataxia 13
Gait ataxia, Generalized hypotonia, Limb dysmetria, Limb ataxia, Abnormal pyramidal sign, Progres... OMIM:605259
Spinocerebellar Ataxia 4
Limb dysmetria, Progressive cerebellar ataxia, Cerebellar atrophy, Babinski sign, Distal sensory ... OMIM:600223
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Impaired distal proprioception, Pain insensitivity, Ataxia, Cerebellar vermis atrophy, Impaired v... ORPHA:94124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus OMIM:614830
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Chorea, Slurred speech, Gait disturbance, Bradykin... ORPHA:98755
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Spastic Paraplegia 26, Autosomal Recessive
Spastic paraplegia, Dystonia, Difficulty walking, Toe walking, Ataxia, Spastic gait, Lower limb s... OMIM:609195
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Generalized hypotonia, Ataxia, Cerebellar atrophy, Dysmetria, Choreoathetosis, Spasticity OMIM:618088
Pontocerebellar Hypoplasia, Type 6
Upper limb spasticity, Increased CSF lactate, Cerebral atrophy, Cerebellar hypoplasia, Cerebellar... OMIM:611523
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Generalized hypotonia, Arnold-Chiari type I malformation, Ataxia, Bradykinesia,... OMIM:617836
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Slurred speech, Progressive cerebell... ORPHA:352403
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... OMIM:133190
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Ataxia, Cerebellar atrophy, Babinski sign, Progressive spastic paraplegia OMIM:612020
Developmental And Epileptic Encephalopathy 36
Abnormality of extrapyramidal motor function, Cerebral atrophy, Abnormal pyramidal sign, Microcep... OMIM:300884
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Abnormal periventricular white matter morphology, Spastic parapares... OMIM:612319
Spinocerebellar Ataxia Type 18
Gait ataxia, Head tremor, Somatic sensory dysfunction, Cerebellar atrophy, Titubation, Dysmetria ORPHA:98771
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Impaired vibratory sensation, Paresthesia, Hand tremor, Impaired temperature sen... ORPHA:99947
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Muscular hypotonia of the trunk, Ataxi... OMIM:618598
Leukodystrophy, Hypomyelinating, 18
Progressive spasticity, Dystonia, Abnormal periventricular white matter morphology, Secondary mic... OMIM:618404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyr... OMIM:615181
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Cerebellar atrophy, Ataxia, Distal sensory impairment OMIM:607250
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Limb ataxia, Chorea, Ataxia, Bradykinesia,... OMIM:607136
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Myoclonus, Microcephaly, Hydrocephalus, Dandy-Walker ma... OMIM:617281
Peroxisome Biogenesis Disorder 5B
Tremor, Generalized hypotonia, Neonatal hypotonia, Oculomotor apraxia, Ataxia, Unsteady gait, Cer... OMIM:614867
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Spasticity, Oculomotor apraxia, Ataxia, Dilated fou... ORPHA:1170
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Generalized hypotonia, Chorea, Cerebellar vermis hypop... ORPHA:251347
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Enlarged fossa interpeduncu... OMIM:610688
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Abnormal posturing, Spasticity OMIM:304700
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Dysmetria, Babin... OMIM:618093
Pontocerebellar Hypoplasia, Type 2B
Hypoplasia of the brainstem, Dystonia, Clonus, Chorea, Ventriculomegaly, Hypoplasia of the corpus... OMIM:612389
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Oculomotor apraxia, Ataxia, Elong... OMIM:608629
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Dystonia, Generalized hypotonia, Abnormality of extrapyramidal motor function,... OMIM:615159
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Tremor, Muscular hypotonia of the trunk, Ataxia, Cerebellar atrophy, R... OMIM:612438
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Truncal ataxia, Partial absence of cerebellar vermis, Posterior fossa cyst at the fourth ventricl... OMIM:220219
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Cerebellar atrophy, Truncal ataxia, Ataxia OMIM:614229
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Dystonia, Generalized hypotonia, Difficulty walking, Abnormal pyramidal sign, Head titubation, At... ORPHA:527497
Orofaciodigital Syndrome Xv
Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Null Syndrome
Inability to walk, Difficulty walking, Progressive spastic quadriplegia, Ataxia, Abnormal cerebel... ORPHA:280234
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Brainstem dysplasia, Enlarge... OMIM:608091
Leukodystrophy, Hypomyelinating, 5
Inability to walk, Intention tremor, Loss of ability to walk, Muscular hypotonia of the trunk, Ab... OMIM:610532
Joubert Syndrome 22
Temporal cortical atrophy, Hypoplasia of the corpus callosum, Oculomotor apraxia, Agenesis of cer... OMIM:615665
Congenital Disorder Of Glycosylation, Type Iii
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Truncal ataxia, Hypotonia OMIM:613612
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Joubert Syndrome 15
Generalized hypotonia, Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Hypotonia OMIM:614464
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Diffuse white matter abnormalities, Agenesis of corpus callosum, Typ... ORPHA:370959
Arnold-Chiari Malformation Type Ii
Agenesis of corpus callosum, Brain stem compression, Difficulty walking, Paraparesis, Ventriculom... ORPHA:1136
Joubert Syndrome 7
Hypoplasia of the brainstem, Brainstem dysplasia, Oculomotor apraxia, Ataxia, Abnormal corpus cal... OMIM:611560
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Spinocerebellar Ataxia Type 8
Dystonia, Gait ataxia, Hypoplasia of the pons, Impaired vibratory sensation, Limb ataxia, Ataxia,... ORPHA:98760
Dandy-Walker Malformation With Postaxial Polydactyly
Truncal ataxia, Partial absence of cerebellar vermis, Posterior fossa cyst at the fourth ventricl... OMIM:220220
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Hypotonia, Abnormality of extrapyramidal motor function, Difficulty walking, Head tremo... ORPHA:280219
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy OMIM:606658
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Ataxia, Brady... OMIM:615157
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Dense calcifications in the cerebellar dentate nucleus, Limb dysmet... OMIM:213600
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... OMIM:609307
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Gait disturbance, Lethargy, Hydrocephalus ORPHA:26
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Micro... ORPHA:1528
Ataxia-Pancytopenia Syndrome
Ataxia, Ankle clonus, Unsteady gait, Cerebellar atrophy, Impaired vibration sensation in the lowe... OMIM:159550
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Microcephaly, Bile duct proliferatio... OMIM:611134
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Ataxia, Ce... OMIM:614487
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly... OMIM:615287
Edinburgh Malformation Syndrome
Death in infancy, Hydrocephalus OMIM:129850
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Abnormal periventricular white matter morphology, Ventriculomegaly, ... OMIM:618476
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Slc35A2-Cdg
Inability to walk, Cerebral white matter atrophy, Abnormal midbrain morphology, Hypoplasia of the... ORPHA:356961
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Tetraparesis, Head titubation, Ataxia, Ankle clonus, Cerebellar atrophy, Dysm... OMIM:615491
Spinocerebellar Ataxia 36
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Hypertonia, Ataxia, Cerebellar atrophy,... OMIM:614153
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Oculomotor apraxia, Ataxia, Elongated superior cerebellar peduncle,... OMIM:618161
Familial Paroxysmal Ataxia
Hemiplegia, Dystonia, Ataxia, Torticollis, Cerebellar vermis atrophy ORPHA:97
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Joubert Syndrome 28
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:617121
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Sensory ataxia, Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Babinski sign, Atrophy/Degener... ORPHA:445062
Spinocerebellar Ataxia, Autosomal Recessive 28
Gait ataxia, Poor fine motor coordination, Abnormal pyramidal sign, Cerebellar vermis hypoplasia,... OMIM:618800
Spinocerebellar Ataxia Type 13
Gait ataxia, Generalized hypotonia, Clumsiness, Difficulty walking, Limb ataxia, Bradykinesia, To... ORPHA:98768
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Joubert Syndrome With Renal Defect
Tremor, Agenesis of corpus callosum, Gait disturbance, Cerebellar vermis hypoplasia, Oculomotor a... ORPHA:220497
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Spastic paraplegia, Hydrocephalus, Absent septum pellucidum, Aqueductal stenosis, Agenesis of cor... OMIM:307000
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Hemiplegia/hemip... ORPHA:2182
Neuroferritinopathy
T2 hypointense thalamus, Dystonia, Palatal myoclonus, Abnormal dentate nucleus morphology, Chorea... ORPHA:157846
Encephalopathy, Recurrent, Of Childhood
Lethargy, Generalized hypotonia, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention... OMIM:130950
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Cerebellar malformation, Hydrocephalus ORPHA:324416
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Hypophosphatasia
Hypercalcemia ORPHA:436
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Papillary Tumor Of The Pineal Region
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251915
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Generalized hypotonia, Hypertonia, Ataxia, Cerebellar atrophy, Myoclonus, Spasticity OMIM:618426
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Joubert Syndrome 16
Molar tooth sign on MRI, Oculomotor apraxia, Dandy-Walker malformation OMIM:614465
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Autosomal Recessive Ataxia, Beauce Type
Clumsiness, Impaired vibratory sensation, Neonatal hypotonia, Gait disturbance, Ataxia, Ankle clo... ORPHA:88644
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles, Aplasia/Hypoplasia of... OMIM:300864
Boucher-Neuhauser Syndrome
Gait ataxia, Spinocerebellar atrophy, Ataxia, Cerebellar atrophy, Intention tremor, Spasticity OMIM:215470
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Cerebellar vermis atrophy, Tongue thrusting, Diffuse cerebral atrophy, A... ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Inability to walk, Cerebellar dysplasia, Cerebellar hypoplasia OMIM:613155
Japanese Encephalitis
Pill-rolling tremor, Dystonia, Abnormality of the internal capsule, Abnormal midbrain morphology,... ORPHA:79139
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Oculomotor apraxia, Lower limb spasticity, Cer... OMIM:604391
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Cerebral atrophy, Babinski sign, Seco... ORPHA:397951
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Agenesis of cerebe... ORPHA:163961
Spinocerebellar Ataxia Type 36
Truncal ataxia, Difficulty walking, Limb ataxia, Head tremor, Ataxia, Tongue fasciculations, Loss... ORPHA:276198
Joubert Syndrome 1
Hypoplasia of the brainstem, Brainstem dysplasia, Cerebellar vermis hypoplasia, Enlarged fossa in... OMIM:213300
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Acalvaria
Holoprosencephaly, Spina bifida, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus ORPHA:945
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Difficulty walking, Cerebellar hypoplasia, Ataxia, Lower limb spasticity, Titu... ORPHA:280210
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Coach Syndrome 3
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:619113
Chiari Malformation Type Ii
Spina bifida, Agenesis of corpus callosum, Ataxia, Opisthotonus, Arnold-Chiari malformation, Myel... OMIM:207950
Hemangioblastoma
Cerebellar edema, Cerebellar hemangioblastoma, Hydrocephalus, Dysesthesia ORPHA:252054
Developmental And Epileptic Encephalopathy 5
Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Spastic tetraplegia, Atr... OMIM:613477
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder, Arnold-Chiari malformation ORPHA:261102
2P21 Microdeletion Syndrome
Hypocalcemia, Cystinuria ORPHA:163693
Pontocerebellar Hypoplasia Type 10
Hypertonia, Abnormal brainstem morphology, Simplified gyral pattern, Abnormal cerebral cortex mor... ORPHA:411493
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Generalized hypotonia, Abnormal posturing, Hypotonia OMIM:614857
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia OMIM:613909
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Lethargy, Abnormal midbrain morphology, Abnormal hypotha... ORPHA:68
Joubert Syndrome With Ocular Defect
Tremor, Agenesis of corpus callosum, Gait disturbance, Cerebellar vermis hypoplasia, Oculomotor a... ORPHA:220493
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Autosomal Recessive Spastic Paraplegia Type 75
Spastic paraplegia, Generalized hypotonia, Impaired vibratory sensation, Abnormal pyramidal sign,... ORPHA:459056
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Gait ataxia, Hypertonia, Muscular hypotonia of the trunk, Abnormal cerebellum morphology,... OMIM:618056
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Akinesia, Abnormality of extrapyramida... OMIM:607454
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Achondroplasia
Megalencephaly, Hydrocephalus, Brain stem compression OMIM:100800
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Positive Romberg sign, Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy OMIM:614575
Nasu-Hakola Disease
Chorea, Ventriculomegaly, Oculomotor apraxia, Cerebral cortical atrophy, Cerebral calcification, ... ORPHA:2770
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Paresthesia, Abnormality of extrapyramidal motor function, ... ORPHA:79279
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia, Aminoaciduria OMIM:239200
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Abnormal cerebellar vermis morphology, Dystonia, Type II lissencepha... ORPHA:300570
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Colpocephaly,... ORPHA:2185
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Hypertonia, Gait disturbance, Meningocel... ORPHA:588
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Ataxia, Molar tooth sign... ORPHA:2318
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Hydrocephalus OMIM:258320
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormality of thalamus morphology, Hypertonia, Gait dis... ORPHA:88619
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Orofaciodigital Syndrome Xvi
Inability to walk, Ventriculomegaly, Oculomotor apraxia, Ataxia, Molar tooth sign on MRI OMIM:617563
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Ataxia, Abnormality of the diencephalon, Abnorm... ORPHA:2720
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Spinocerebellar Ataxia Type 42
Gait ataxia, Impaired vibration sensation at ankles, Head tremor, Resting tremor, Abnormal cerebe... ORPHA:458803
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Poretti-Boltshauser Syndrome
Generalized hypotonia, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Oculo... OMIM:615960
Gillespie Syndrome