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Gene: Ankfy1 MGI:1337008

Gene Summary

Name:

ankyrin repeat and FYVE domain containing 1

Synonyms:

Ankhzn

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
hydrometra	Ankfy1^{tm1b(KOMP)Mbp}	HET	Early adult	0.00
embryonic lethality prior to organogenesis	Ankfy1^{tm1b(KOMP)Mbp}	HOM	E9.5	0.00
enlarged heart	Ankfy1^{tm1b(KOMP)Mbp}	HET	Early adult	0.00
abnormal heart morphology	Ankfy1^{tm1b(KOMP)Mbp}	HET	Early adult	0.00
small superior vagus ganglion	Ankfy1^{tm1b(KOMP)Mbp}	HET	Early adult	0.00
embryonic lethality prior to tooth bud stage	Ankfy1^{tm1b(KOMP)Mbp}	HOM	E12.5	0.00
preweaning lethality, complete penetrance	Ankfy1^{tm1b(KOMP)Mbp}	HOM	Early adult	0.00
increased monocyte cell number	Ankfy1^{tm1b(KOMP)Mbp}	HET	Early adult	1.40×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Section images	heterozygote	100% (2 of 2)
Aorta	Section images	heterozygote	50% (1 of 2)
Brown adipose tissue	Section images	heterozygote	50% (1 of 2)
Cecum	Section images	heterozygote	100% (2 of 2)
Cerebellum	Section images	heterozygote	100% (2 of 2)
Colon	Section images	heterozygote	100% (2 of 2)
Duodenum	Section images	heterozygote	50% (1 of 2)
Epididymis	Section images	heterozygote	50% (1 of 2)
Esophagus	Section images	heterozygote	100% (2 of 2)
Eye	Section images	heterozygote	100% (2 of 2)
Gonadal fat pad	Section images	heterozygote	50% (1 of 2)
Harderian gland	Section images	heterozygote	100% (2 of 2)
Ileum	Section images	heterozygote	100% (2 of 2)
Kidney	Section images	heterozygote	100% (2 of 2)
Lung	Section images	heterozygote	100% (2 of 2)
Mammary gland	Section images	heterozygote	50% (1 of 2)
Mesenteric adipose tissue	Section images	heterozygote	50% (1 of 2)
Midbrain	Section images	heterozygote	100% (2 of 2)
Olfactory lobe	Section images	heterozygote	100% (2 of 2)
Oviduct	Section images	heterozygote	50% (1 of 2)
Pancreas	Section images	heterozygote	100% (2 of 2)
Parathyroid gland	Section images	heterozygote	50% (1 of 2)
Parotid gland	Section images	heterozygote	50% (1 of 2)
Penis	Section images	heterozygote	50% (1 of 2)
Pituitary gland	Section images	heterozygote	100% (2 of 2)
Prostate gland	Section images	heterozygote	50% (1 of 2)
Quadriceps	Section images	heterozygote	50% (1 of 2)
Skin	Section images	heterozygote	100% (2 of 2)
Spinal cord	Section images	heterozygote	100% (2 of 2)
Spleen	Section images	heterozygote	100% (2 of 2)
Stomach	Section images	heterozygote	100% (2 of 2)
Sublingual gland	Section images	heterozygote	50% (1 of 2)
Submandibular gland	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Thymus	Section images	heterozygote	50% (1 of 2)
Tongue	Section images	heterozygote	100% (2 of 2)
Trachea	Section images	heterozygote	100% (2 of 2)
Trigeminal V nerve	Section images	heterozygote	100% (2 of 2)
Urinary bladder	Section images	heterozygote	100% (2 of 2)
Uterus	Section images	heterozygote	50% (1 of 2)
Vagina	Section images	heterozygote	50% (1 of 2)
Vas deferens	Section images	heterozygote	50% (1 of 2)
Vesicular gland	Section images	heterozygote	50% (1 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	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Cartilage tissue	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	Not available
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Jejunum	N/A	heterozygote	Not available
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lymph node	N/A	heterozygote	Not available
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	Not available
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Sciatic nerve	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	Not available
Small intestine	N/A	heterozygote	100% (2 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Striatum	N/A	heterozygote	Not available
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	Not available
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	100% (2 of 2)
Ear	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Footplate	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forelimb	N/A	heterozygote	100% (2 of 2)
Gut	N/A	heterozygote	100% (2 of 2)
Handplate	N/A	heterozygote	0.0% (0 of 2)
Head	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindlimb	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Mandibular process	N/A	heterozygote	Ambiguous
Maxillary process	N/A	heterozygote	Ambiguous
Midbrain	N/A	heterozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	Ambiguous
Skeleton	N/A	heterozygote	100% (2 of 2)
Skin	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	heterozygote	100% (2 of 2)
Tail	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Urinary system	N/A	heterozygote	100% (2 of 2)

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

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

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
axial skeleton	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

Associated Images

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

Adult LacZ

LacZ Images Section

129 Images

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Embryo LacZ

LacZ images wholemount

8 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E9.5

Images

3 Images

View images

Human diseases caused by Ankfy1 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.

Human diseases associated with Ankfy1 (1 diseases)
Human diseases predicted to be associated with Ankfy1 (1200 diseases)

The table below shows human diseases associated to Ankfy1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Genetic Steroid-Resistant Nephrotic Syndrome			ORPHA:656

The table below shows human diseases predicted to be associated to Ankfy1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Ataxia, Tremor, Hypotonia, Cerebellar hypoplasia, Scoliosis	OMIM:213000
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Ga...	OMIM:213200
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ...	OMIM:617018
Spastic Paraplegia 62, Autosomal Recessive	Lower limb spasticity, Thoracic scoliosis, Clonus, Abnormal cerebellum morphology, Babinski sign,...	OMIM:615681
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Spinocerebellar Ataxia 17	Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Diffuse cerebral atrophy, R...	OMIM:607136
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra...	OMIM:143100
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls	OMIM:615945
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking	ORPHA:423296
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady...	ORPHA:101010
Spinocerebellar Ataxia, Autosomal Recessive 27	Spastic ataxia, Cerebellar atrophy, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb...	OMIM:618369
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig...	OMIM:236792
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Autosomal Recessive Spastic Paraplegia Type 32	Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A...	ORPHA:171622
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a...	ORPHA:94122
Cerebellar Ataxia, Cayman Type	Broad-based gait, Hypotonia, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor	OMIM:601238
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical...	OMIM:615268
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Spastic Paraplegia 18B, Autosomal Recessive	Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clon...	OMIM:611225
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
Spastic Paraplegia 32, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Cerebral atrophy, A...	OMIM:611252
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Ataxia, Impaired distal proprioception, Babinski sign, Impaired distal vibrat...	OMIM:619742
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait	OMIM:605388
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Ethanolaminosis	Cardiomegaly	OMIM:227150
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce...	ORPHA:521406
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Ataxia, Inability to walk, Hypotonia, Appendicular hypotonia	OMIM:619333
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Bradykinesia, Gait ...	OMIM:221820
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Loss of ambulation	OMIM:617917
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Broad-based gait, Ataxia,...	OMIM:610185
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Kyphosis, Babinski sign,...	OMIM:614409
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramid...	OMIM:607317
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Pontocerebellar Hypoplasia, Type 4	Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Gliosis, Myo...	OMIM:225753
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Athetosis, Gliosis, Dystonia	OMIM:300857
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Ataxia, Hypotonia, Dysmetria, Gait ataxia, Clumsiness, Generalized hypotonia,...	OMIM:608029
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Unsteady gait, Hypotonia, Intention tremor, Abnormality of extrapyram...	OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 24	Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Spinocerebellar Ataxia Type 5	Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance	ORPHA:98766
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Spinocerebellar Ataxia 45	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:617769
Epilepsy, Progressive Myoclonic 7	Tremor, Cerebellar atrophy, Ataxia, Myoclonus	OMIM:616187
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Axonal degeneration, Tetraplegia, Hand tremor, Distal sensory impairment, Degeneration of anterio...	OMIM:604484
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri...	OMIM:611302
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia	OMIM:611694
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor	OMIM:618876
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Dystonia, K...	OMIM:616756
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, C...	ORPHA:401820
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Hypotonia,...	OMIM:618090
Spinocerebellar Ataxia 12	Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Cerebe...	ORPHA:314603
Developmental And Epileptic Encephalopathy 14	Clonus, Hypotonia, Tetraplegia, Gliosis, Generalized hypotonia, Spasticity, Neuronal loss in cent...	OMIM:614959
Dystonia 23	Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea...	OMIM:614860
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro...	ORPHA:423275
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Axial hypotonia, Tremor, Kyphosis, Unsteady gait, Abnormal p...	OMIM:617435
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor...	OMIM:300957
Spinocerebellar Ataxia 31	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Axial hypotonia, Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls	ORPHA:494526
X-Linked Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive...	ORPHA:1175
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria,...	OMIM:617916
Nescav Syndrome	Appendicular spasticity, Cerebellar atrophy, Axial hypotonia, Ataxia, Inability to walk, Babinski...	OMIM:614255
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ...	ORPHA:276193
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di...	OMIM:600116
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma...	OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Generalized dystonia, Corpus ...	OMIM:619389
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Dystonia, Ataxia, Par...	OMIM:109150
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S...	OMIM:606777
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, Hypotonia, Tongue fascicul...	OMIM:618276
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Hypotonia, Obesity, Cerebellar hypoplasia, Limb dystonia	OMIM:620270
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Cerebellar vermis hypoplasia, Unsteady ga...	OMIM:616127
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Monocyto...	OMIM:614470
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Segawa Syndrome, Autosomal Recessive	Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor...	OMIM:605407
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Babinski ...	OMIM:617225
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo...	OMIM:600143
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Hypotonia, Titubation, Gliosis, ...	ORPHA:280210
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Hypertonia, Cerebellar hemispher...	OMIM:615095
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Hypotonia, Spastic tetraplegi...	OMIM:256600
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis	ORPHA:101075
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa...	OMIM:300423
Spastic Paraplegia, Ataxia, And Mental Retardation	Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Impaired vi...	OMIM:607565
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Hypotonia, Gliosi...	OMIM:612936
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat...	ORPHA:251282
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Hypotonia, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical ...	ORPHA:33445
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai...	OMIM:618093
Mast Syndrome	Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi...	OMIM:248900
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent...	OMIM:615386
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex...	ORPHA:204
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Hypotonia, Dysmetria, Cerebra...	OMIM:618088
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Axial hypotonia, Ataxia, Tremor, Inability to walk,...	OMIM:614831
Dyskinesia, Limb And Orofacial, Infantile-Onset	Axial hypotonia, Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent f...	OMIM:616921
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait	OMIM:618387
Familial Infantile Bilateral Striatal Necrosis	Failure to thrive, Dystonia, Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babin...	ORPHA:225154
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis	ORPHA:101078
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ...	OMIM:610357
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s...	ORPHA:93952
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia	OMIM:614322
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G...	OMIM:616230
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy...	ORPHA:71277
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph...	OMIM:614877
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a...	OMIM:613728
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rig...	ORPHA:98759
Spinocerebellar Ataxia, Autosomal Recessive 25	Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia	OMIM:617584
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl...	OMIM:619028
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Dystonia, Atrophy/Degeneration affecting the brainstem, Babinski sign, Spasti...	OMIM:618404
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Overweight, Hypotonia, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, G...	ORPHA:457240
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Dentatorubral-Pallidoluysian Atrophy	Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia	OMIM:125370
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal ...	OMIM:610743
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d...	OMIM:614898
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,...	OMIM:105550
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Broad-based gait, Hypotonia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cere...	OMIM:224050
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri...	OMIM:256731
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, L...	ORPHA:319199
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Kyp...	OMIM:128100
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki...	ORPHA:512260
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Cerebellar vermis atrophy, Gait a...	ORPHA:248111
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Rigidity, Chorea, Hypotonia, Cerebral atrophy, Cogwheel rigidity, Choreoathet...	OMIM:616981
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Spinocerebellar Ataxia 42	Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Difficulty walking, Paralysis	OMIM:608634
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Tetraparesis, Myoclonus, Dystonia, Spa...	OMIM:615924
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking, Distal sensory impairment	OMIM:615048
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, General...	ORPHA:71517
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Autosomal Recessive Spastic Paraplegia Type 69	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Spastic dysarthr...	ORPHA:401830
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Hypotonia, Limb...	OMIM:605259
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
Roussy-Lévy Syndrome	Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Impai...	ORPHA:3115
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Inability to walk, Hypotonia, Dysmetria, Gait ataxia, Cerebellar hypo...	OMIM:617810
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal...	OMIM:617672
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Scoliosis, Spastic paraparesis, Apra...	OMIM:615157
Porphyria, Acute Hepatic	Paralysis, Hypotonia, Respiratory paralysis, Paresthesia, Failure to thrive	OMIM:612740
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi...	ORPHA:1170
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ...	ORPHA:397946
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Babinski sign, Hypotoni...	OMIM:619054
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia...	OMIM:616719
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Cerebellar atrophy, Ataxia, Spastic tetraplegia, Generalized hypotonia, Scoliosis, Spasticity	OMIM:617207
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Dystonia, Cerebellar vermis hypoplasia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, ...	ORPHA:453521
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Generalized hypotonia, Ataxia, Kyphoscoliosis	OMIM:619099
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cer...	OMIM:607346
Spinocerebellar Ataxia, X-Linked 5	Neonatal hypotonia, Ataxia, Action tremor	OMIM:300703
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Cerebral atrophy, Distal sensory impairment, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:604218
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Chiari type I malformation, Generalized hypotonia, Dystonia	OMIM:617836
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Babinski...	OMIM:600363
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Unste...	ORPHA:79263
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl...	ORPHA:306692
Combined Oxidative Phosphorylation Deficiency 45	Axial hypotonia, Ataxia, Short neck, Tremor, Failure to thrive	OMIM:618951
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Hypotonia, Limb ataxia, Dysme...	OMIM:117360
Multiple Mitochondrial Dysfunctions Syndrome 6	Cerebellar atrophy, Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Hypo...	OMIM:617954
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di...	ORPHA:98764
Parkinsonism-Dystonia 1, Infantile-Onset	Axial hypotonia, Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal py...	OMIM:613135
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Corpus callosum atrophy, Abnormal cerebellum morphology, Babinski sign, Pseudobulbar para...	OMIM:169500
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr...	OMIM:210000
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Paralysis, Hypotonia, Cerebral atrophy, Generalized hypotonia	OMIM:616286
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar atrophy, Lower limb spasticity, Abnormal cerebellar peduncle morphology, Cerebellar ve...	ORPHA:98
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar ataxia, My...	ORPHA:139485
Spastic Paraplegia 5A, Autosomal Recessive	Lower limb spasticity, Postural tremor, Impaired distal proprioception, Abnormal cerebellum morph...	OMIM:270800
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Scoli...	ORPHA:330050
Leigh Syndrome	Ataxia, Hypotonia, Hepatocellular necrosis, Gliosis, Generalized hypotonia, Dystonia, Spasticity,...	OMIM:256000
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait...	ORPHA:216873
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia	OMIM:616871
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Abnormal cerebellum m...	ORPHA:137898
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ...	OMIM:620158
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Axial hypotonia, Ataxia, Kyphosis, Appendicular hypotonia, Tongue fasciculations, Failure to thrive	OMIM:620007
Huntington Disease-Like 1	Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria, Basal ganglia gliosis, Global brain a...	OMIM:603218
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Hypotonia, Dysmetria, Gait...	OMIM:616505
Autosomal Recessive Spastic Paraplegia Type 46	Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Ataxia, Corpus callosum atrophy, Bab...	ORPHA:320391
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella...	ORPHA:98756
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Cerebellar atrophy, Lower limb spasticity, Kyphoscoliosis, Babinski sign, Cerebral atrophy, Tip-t...	ORPHA:496689
Parkinson-Dementia Syndrome	Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign	OMIM:260540
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Kyphosis, Atroph...	ORPHA:88644
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Gait disturbance, Scoliosis	ORPHA:99014
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal sensory impairment, Difficulty walking, Scoliosis, Paralysis	OMIM:605285
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Spastic Ataxia 3, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Scoliosis, Dystonia, Loss of ...	OMIM:611390
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Babinski sign, Cerebral atrophy, Gait disturbance, Myoclonus, Gliosis, Apraxia, ...	OMIM:221770
Spinocerebellar Ataxia 5	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Hypot...	OMIM:600224
Spinocerebellar Ataxia 14	Cerebellar atrophy, Dysmetria, Focal dystonia, Gait ataxia, Progressive cerebellar ataxia, Impair...	OMIM:605361
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ...	ORPHA:99947
Hypermanganesemia With Dystonia 2	Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Sc...	OMIM:617013
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys...	OMIM:619738
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Axonal...	OMIM:208920
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Small for gestational age	OMIM:278780
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Generalized dystonia, Parkinsonism, Cerebellar calcifications, Rigidity, Babinski sign, Limb atax...	OMIM:618824
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Dystonia, Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, ...	ORPHA:500180
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:352403
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spa...	OMIM:615889
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Scoliosis, Loss of ambulation	OMIM:614018
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Small for gestational age, Inability to walk, Cerebellar gliosis, Hypotonia, Cerebral atr...	ORPHA:79243
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis, Paresthesia, Scoliosis	ORPHA:640
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di...	ORPHA:314632
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t...	ORPHA:101109
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait...	OMIM:168601
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dyston...	OMIM:612438
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Scoliosis, Generalized hypotonia, Diff...	ORPHA:306669
Stxbp1-Related Encephalopathy	Ataxia, Tremor, Inability to walk, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Generalized hypotonia	OMIM:264070
Pontocerebellar Hypoplasia, Type 2A	Hypoplasia of the pons, Chorea, Opisthotonus, Gliosis, Cerebellar hypoplasia, Extrapyramidal dysk...	OMIM:277470
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Generalized hypotonia, Oc...	ORPHA:208513
Spinocerebellar Ataxia 2	Dysmetria, Generalized hypotonia, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, ...	OMIM:183090
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Dystonia, Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, Cere...	ORPHA:527497
X-Linked Charcot-Marie-Tooth Disease Type 3	Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Scoliosis, Spastic para...	ORPHA:101077
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Spastic Paraplegia 7, Autosomal Recessive	Spastic ataxia, Lower limb spasticity, Cerebellar atrophy, Waddling gait, Degeneration of the lat...	OMIM:607259
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Myoclonus	OMIM:612016
Spastic Paraplegia 75, Autosomal Recessive	Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Hypotonia, D...	OMIM:616680
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Kyphosis, Spastic tetraplegia, Generalized hypotonia, Dystonia, Failure to th...	OMIM:618237
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Reduction of oligodendroglia, Tre...	OMIM:312080
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Atypical Rett Syndrome	Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Li...	ORPHA:3095
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Hypotonia, Dysmetria, Gait ataxia, Dys...	OMIM:616204
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Spinocerebellar Ataxia 28	Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a...	OMIM:610246
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff...	OMIM:612319
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Hypotonia, Tip-toe gait, Gait di...	OMIM:617404
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis	ORPHA:85317
Spinocerebellar Ataxia 27B, Late-Onset	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Spastic Paraplegia 85, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Torticollis, Impaired vibratory sensation, Impaired te...	OMIM:619686
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Scoliosis, Spasticity	OMIM:609260
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy	OMIM:619405
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Axonal degeneration, Dysm...	OMIM:302800
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Cerebellar hypoplasia, Spasticity	ORPHA:168486
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Atrophy/D...	ORPHA:228360
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Gliosis, Dystonia, Neuronal ...	ORPHA:683
Spastic Paraplegia 26, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, D...	OMIM:609195
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,...	OMIM:615491
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Axial hypotonia, Ataxia, Kyphosis, Unsteady gait, Obesity, ...	ORPHA:464282
Spinocerebellar Ataxia 49	Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal...	OMIM:619806
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Hypotonia, Spasticity, Generalized...	ORPHA:363717
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Limb dystonia, Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Hypoton...	OMIM:617560
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign	OMIM:617770
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Impaired distal proprioception, Unsteady gait, Impaired distal vibration sens...	OMIM:617633
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul...	ORPHA:276435
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Intellectual Developmental Disorder, X-Linked 111	Cerebral palsy, Kyphoscoliosis, Corpus callosum atrophy, Unsteady gait, Hippocampal atrophy, Dyst...	OMIM:301107
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Distal sensory impairment, Difficulty walking, Paralysis	OMIM:613710
Leukoencephalopathy With Vanishing White Matter 1	Unsteady gait, Hypotonia, Gait disturbance, Gliosis, Generalized hypotonia, Spasticity	OMIM:603896
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Scoliosis	OMIM:300861
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Spastic tetraplegia, Hypotonia,...	OMIM:619847
Myoclonic-Atonic Epilepsy	Ataxia, Tremor, Hypotonia, Eyelid myoclonus, Scoliosis	OMIM:616421
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Dystonia, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, A...	OMIM:230650
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus	OMIM:159900
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to ...	ORPHA:845
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Oculomotor apraxia, Unsteady gait, Dysmetria, Generalized hyp...	OMIM:614867
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Hypoplasia of the pons, Hypotonia, Limb ataxia, Hand tremor, Hypoplasia of the ventral po...	OMIM:607596
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Axial hypotonia, Tremor, Myoclonus, Dystonia, Failure to thrive	OMIM:619651
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia,...	OMIM:618598
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Camptocormia, Axial hypotonia, Involuntary movements, Chorea, Hypotonia, Choreoat...	OMIM:606703
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Hypotonia	OMIM:619561
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh...	OMIM:137440
Spinocerebellar Ataxia 34	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis...	OMIM:133190
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Ataxia, Impaired pain sensation, Kyphosis, Unsteady gait, Hypotonia, Obesity, Distal sensory impa...	OMIM:618124
Hemimegalencephaly	Hemiparesis, Gliosis, Myoclonus, Abnormal neuron morphology	ORPHA:99802
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Lower limb spasticity, Broad-based gait, Hyperlordosis, Kyphosis, Babinski sign, S...	OMIM:615290
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Ba...	OMIM:609270
Masa Syndrome	Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait	OMIM:303350
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat...	ORPHA:276241
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Spa...	ORPHA:329284
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme...	ORPHA:251347
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity...	ORPHA:542310
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Axial hypotonia, Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, Neuronal...	OMIM:614498
Amyotrophic Lateral Sclerosis 2, Juvenile	Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe...	OMIM:205100
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Eyelid myoclonu...	ORPHA:2590
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Hippocampal sclerosis, Myoclonus	OMIM:615400
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C...	OMIM:105500
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Axial hypotonia, Ataxia, Parkinsonism, Kyphoscoliosis, Short neck, Tremor, Facial...	OMIM:300055
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, G...	OMIM:604391
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Axial hypotonia, Oculogyric crisis, Tremor, Hypotonia, Dysd...	OMIM:618049
Sandhoff Disease	Kyphosis, Failure to thrive, Ataxia	ORPHA:796
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ...	OMIM:607694
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Ataxia, Kyphosis, Hypotonia, Limb ataxia, Gait ataxia, Scoliosis, Spasticity,...	OMIM:248800
Perrault Syndrome 1	Cerebellar atrophy, Ataxia, Spastic diplegia, Gait ataxia, Scoliosis, Intention tremor	OMIM:233400
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Corpus callosum atrophy, Increased vertebral height, Babinski sign, Abnormal ...	OMIM:248500
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lower limb spasticity, Gliosis, Hypotonia	OMIM:615119
Intellectual Developmental Disorder, X-Linked 104	Tremor, Spasticity, Ataxia, Cerebral cortical atrophy	OMIM:300983
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypotonia, Hypertonia, Myoclonus, I...	OMIM:612736
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypotonia, Hypertonia, Cerebellar hypoplasia, Failure to thrive	OMIM:619556
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Small for gestational age, Kyphosc...	OMIM:214150
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Inability to walk, H...	OMIM:617193
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diffuse cerebral atrophy, Axial hypotonia, Head titubation, Vestibular areflexia, Spastic tetrapl...	ORPHA:3240
Baralle-Macken Syndrome	Kyphosis, Inability to walk, Obesity, Dystonia, Neonatal hypotonia, Spasticity, Global brain atrophy	OMIM:619255
Machado-Joseph Disease Type 3	Cerebellar atrophy, Dilated fourth ventricle, Abnormal lower motor neuron morphology, Substantia ...	ORPHA:276244
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Paresthesia, Scoliosis, Abnormality of the ...	ORPHA:48431
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls	OMIM:619647
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph...	OMIM:618060
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Generalized hypotonia,...	ORPHA:529665
Hyperphenylalaninemia, Bh4-Deficient, A	Axial hypotonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetos...	OMIM:261640
Mepan Syndrome	Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Cerebral a...	ORPHA:508093
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni...	OMIM:614172
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor...	OMIM:215470
Spastic Paraplegia 20, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Kyphoscoliosis, Abnormal cerebellum morphology, Babins...	OMIM:275900
Developmental And Epileptic Encephalopathy 56	Broad-based gait, Ataxia, Poor coordination, Hypotonia, Scoliosis, Action tremor	OMIM:617665
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ...	OMIM:272750
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S...	OMIM:614487
Hsd10 Disease	Ataxia, Tremor, Rigidity, Choreoathetosis, Frontotemporal cerebral atrophy, Gait disturbance, Myo...	ORPHA:391417
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Scoliosis, Myoclonus, Difficu...	OMIM:159950
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis,...	ORPHA:99750
Juvenile Amyotrophic Lateral Sclerosis	Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb spasticity, Arm dyston...	ORPHA:300605
Immunodeficiency 83, Susceptibility To Viral Infections	Hemiparesis, Gliosis	OMIM:613002
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Slurred speech, Dys...	OMIM:183086
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Spinocerebellar Ataxia Type 19/22	Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog...	ORPHA:98772
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki...	OMIM:300894
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, A...	ORPHA:458803
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor	OMIM:606438
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Hereditary Methemoglobinemia	Cerebellar atrophy, Small for gestational age, Spastic tetraplegia, Temporal cortical atrophy, At...	ORPHA:621
Charcot-Marie-Tooth Disease Type 4A	Neuropathic spinal arthropathy, Impaired distal proprioception, Impaired pain sensation, Inabilit...	ORPHA:99948
Spinocerebellar Ataxia 4	Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb...	OMIM:600223
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonu...	ORPHA:313772
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Severe muscular hypotonia, Tremor, Babinski sign, Spastic paraplegia, Difficult...	ORPHA:477673
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Kyphoscoliosis, Distal sensory impairment, Gait ataxia, Action tremor	OMIM:180800
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Gliosis, Shuffling g...	ORPHA:411602
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Thoracic kyphosis, Myoclonus...	OMIM:619092
Spinocerebellar Ataxia 26	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:609306
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Axial hypotonia, Ataxia, Postural tremor, Babinski sign, Hypotonia, Truncal o...	OMIM:301072
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Brain Dopamine-Serotonin Vesicular Transport Disease	Axial hypotonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor,...	ORPHA:352649
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Sensory ataxia, ...	ORPHA:445062
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Hypotonia, Choreoathetosis, Gait distur...	ORPHA:702
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Generalized hypotonia, Truncal ataxia	OMIM:618587
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
Episodic Ataxia Type 1	Cerebellar atrophy, Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, T...	ORPHA:37612
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar verm...	OMIM:270550
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Babinski sign, Unsteady gait, Dysmetri...	ORPHA:98761
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Hypotonia, Cerebral...	OMIM:618877
Spinocerebellar Ataxia, Autosomal Recessive 31	Axial hypotonia, Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Lumbar kyphoscoliosis, Cerebe...	OMIM:619422
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Postural tremor, Chorea, Loss of Purkinje cells in the cerebellar vermis, Slu...	ORPHA:98755
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Cerebral atrophy	OMIM:618637
Spinocerebellar Ataxia Type 8	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Rigidity, Hypoplasia of the pons, Unste...	ORPHA:98760
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress...	OMIM:612020
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granu...	OMIM:601104
Spinocerebellar Ataxia Type 36	Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, Dysmetria...	ORPHA:276198
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Tremor, Kyphosis, Inability to walk, Cerebellar vermis...	OMIM:617988
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Fasciculations	ORPHA:65684
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Short neck, Paucity of anterior horn motor neurons, Kypho...	OMIM:611890
Myasthenic Syndrome, Congenital, 16	Gait disturbance, Periodic paralysis, Hyperlordosis	OMIM:614198
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Lower limb spasticity, Babinski sign, Abnormal pyramidal sign, Truncal ataxia, Impaired vibration...	ORPHA:352641
Familial Dyskinesia And Facial Myokymia	Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal ...	OMIM:619574
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Difficulty walking, Scoliosis, Distal sensory impairment	OMIM:617087
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti...	OMIM:300623
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Truncal obesity, Gait disturbance, Scoliosis, Spasticity	ORPHA:2429
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
4H Leukodystrophy	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnor...	ORPHA:289494
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Acute Peripheral Arterial Occlusion	Paresthesia, Impaired distal tactile sensation, Paralysis	ORPHA:90064
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements, Kyphoscoliosis, Uppe...	ORPHA:98805
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Broad-based gait, Gait ataxia, Distal sensory impairment, Sensory ataxia, Steppage gait, Scoliosi...	OMIM:614895
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor	ORPHA:98771
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hyperlordosis, Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cerebr...	ORPHA:1192
Spinocerebellar Ataxia 21	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Co...	OMIM:607454
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Kyphoscoliosis, Tremor, Inability to walk, Hypotonia, Choreoathetosis, Dyston...	OMIM:617664
Allan-Herndon-Dudley Syndrome	Axial hypotonia, Ataxia, Small for gestational age, Kyphoscoliosis, Failure to thrive in infancy,...	ORPHA:59
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Hypotonia, Neurodegeneration, Gliosis, Generalized hypotonia, Spasticity, Neu...	OMIM:616239
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca...	ORPHA:420492
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Cere...	ORPHA:442835
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Ataxia, Elongated superior cerebellar peduncle, Head titubation, Hypoto...	ORPHA:370022
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par...	ORPHA:139480
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal...	ORPHA:171629
Developmental And Epileptic Encephalopathy 71	Gliosis, Hypotonia	OMIM:618328
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia	OMIM:608033
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Axial hypotonia, Ataxia, Generalized dystonia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gai...	OMIM:618321
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Corpus callosum atrophy, Babinski sign, Spastic paraplegia, Impaired distal vibration sen...	OMIM:616586
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to...	OMIM:616710
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Hypotonia, Myoclonus	OMIM:616366
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Hypotonia, Cerebral atrophy, Gliosis, Brain atrophy, Limb dystonia, Basal gan...	OMIM:604377
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B...	ORPHA:240094
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Hypotonia, Cerebral atrophy, Gliosis, Myoclonus, At...	OMIM:614946
Familial Acute Necrotizing Encephalopathy	Rigidity, Spastic tetraplegia, Hypertonia, Gait disturbance, Gliosis, Spasticity	ORPHA:88619
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyram...	OMIM:606002
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Kyphoscoliosis, Tremor, Ob...	ORPHA:3077
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins...	OMIM:614298
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Failure to thrive, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Hy...	OMIM:203700
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok...	OMIM:614381
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Atrophy/Degeneration affecting the brai...	OMIM:616267
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxi...	OMIM:603516
Spinocerebellar Ataxia 36	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Hypotonia, Limb ataxia, Gait ataxia, H...	OMIM:614153
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Broad-based gait, Hypotonia, Spastic tetraparesis	OMIM:619470
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Inability to walk, Waddling gait	OMIM:616269
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia	OMIM:612126
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola...	OMIM:609454
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls	OMIM:300718
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Pelizaeus-Merzbacher Disease, Classic Form	Axial hypotonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Hypotonia, Dystonic gait,...	ORPHA:280219
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetrapl...	ORPHA:206443
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Vertebral fusion, Hyperlordosis, Kyphosis, Hypotonia, Tip-toe gait, Scoliosis...	OMIM:606612
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance	OMIM:603472
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Ataxia, Tremor, Spastic tetraplegi...	OMIM:617710
Cdkl5-Deficiency Disorder	Impaired pain sensation, Kyphosis, Abnormal muscle tone, Gait disturbance, Difficulty walking, Sc...	ORPHA:505652
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Athetosis, Hypertonia, Generalized hypotonia	OMIM:617106
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Ab...	OMIM:618056
Hyperphenylalaninemia, Bh4-Deficient, B	Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Generalized...	OMIM:233910
Cerebrotendinous Xanthomatosis	Axonal degeneration, Abnormal pyramidal sign, Thoracic kyphosis, Gliosis, Abnormal cerebellar ped...	ORPHA:909
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Autosomal Dominant Spastic Paraplegia Type 9A	Low back pain, Tremor, Abnormal cerebellum morphology, Corpus callosum atrophy, Babinski sign, Ab...	ORPHA:447753
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Kyphosis, Small for gestational age, Decreased body weight	OMIM:618392
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Kyphosis, Axonal degeneration, Impaired vibration sensation in the lo...	ORPHA:88628
Multiple System Atrophy	Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p...	ORPHA:102
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Axial hypotonia, Oculogyric crisis, Small for gestational age, Tremor, Rigidity, ...	ORPHA:70594
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula...	ORPHA:90117
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ank...	OMIM:609541
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Axial hypotonia, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kypho...	OMIM:619909
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Involuntary movements, Oculogyric crisis, Akinesia, Rigidity, Kypho...	ORPHA:97349
Ataxia-Oculomotor Apraxia Type 4	Somatic sensory dysfunction, Ataxia, Kyphoscoliosis, Obesity, Dystonia, Oculomotor apraxia	ORPHA:459033
Charcot-Marie-Tooth Disease, Type 4K	Difficulty walking, Ataxia, Kyphoscoliosis, Dystonia	OMIM:616684
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Camptocormia, Postural tremor, Parkinsonism, Ri...	ORPHA:227510
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Axial hypotonia, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal t...	OMIM:607483
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Sple...	OMIM:612541
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop...	ORPHA:363400
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys...	ORPHA:254881
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
Spinocerebellar Ataxia 27A	Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno...	OMIM:193003
Leigh Syndrome	Cerebellar atrophy, Abnormal dentate nucleus morphology, Dystonia, Ataxia, Involuntary movements,...	ORPHA:506
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl...	OMIM:602481
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Short neck, Tremor, Chorea, Hypotonia, Clumsiness, Choreoathetosis, Abnormality o...	OMIM:615673
Rett Syndrome	Dystonia, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia, Spasticity, C...	OMIM:312750
Lissencephaly, X-Linked, 2	Spasticity, Gliosis, Hypotonia, Generalized hypotonia	OMIM:300215
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Kyphosis, Abnormal cerebellum morphology, Vocal cord paralysis, Hypotonia, Clumsiness, An...	OMIM:211530
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Developmental And Epileptic Encephalopathy 46	Axial hypotonia, Tremor, Cerebral atrophy, Failure to thrive, Limb hypertonia	OMIM:617162
Srd5A3-Cdg	Cerebellar atrophy, Ataxia, Kyphosis, Abnormal sacrum morphology, Abnormal cerebellum morphology,...	ORPHA:324737
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p...	ORPHA:98933
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Tremor, Hypotonia, Cerebral atrophy, Choreoathetosis, Myoclonus, Gener...	OMIM:312170
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Tremor, Kyphosis, Hypotonia, Gait ataxia, Abdominal obesity, Generalized hypotonia, Cerebellar ve...	OMIM:300354
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst...	OMIM:619911
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella...	OMIM:277460
Variegate Porphyria	Paralysis	OMIM:176200
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hypoesthesia, Vocal cord paralysis, Hand paresthesia	OMIM:162500
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Axial hypotonia, Tremor, Patent ductus arterios...	OMIM:620327
Charcot-Marie-Tooth Disease Type 4C	Neuropathic spinal arthropathy, Cerebellar atrophy, Failure to thrive, Impaired pain sensation, I...	ORPHA:99949
Aicardi-Goutieres Syndrome 6	Tremor, Loss of ambulation, Rigidity, Dystonia	OMIM:615010
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Positive Romberg sign...	OMIM:614575
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Bab...	OMIM:601162
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Cerebellar atrophy, Waddling gait, Dystonia, Ataxia, Hyperlordosis, Tremor, Inabi...	OMIM:615356
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis	ORPHA:140989
Lethal Congenital Contracture Syndrome 8	Vocal cord paralysis, Hypotonia, Distal sensory impairment	OMIM:616287
Charcot-Marie-Tooth Disease And Deafness	Tremor, Steppage gait, Gait disturbance, Distal sensory impairment	OMIM:118300
Primary Non-Essential Cutis Verticis Gyrata	Gliosis, Scoliosis	ORPHA:357225
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Hypotonia, Bradykinesia, Poor fine motor coordination, Generalize...	ORPHA:36387
Myasthenic Syndrome, Congenital, 25, Presynaptic	Severe muscular hypotonia, Spinal rigidity, Kyphosis, Hypotonia, Scoliosis	OMIM:618323
Neuroferritinopathy	Resting tremor, Abnormal dentate nucleus morphology, Caudate atrophy, Parkinsonism, Writer's cram...	ORPHA:157846
Attrv30M Amyloidosis	Cardiomyopathy, Abnormal autonomic nervous system physiology, Cardiomegaly	ORPHA:85447
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia,...	OMIM:168600
Autosomal Recessive Spastic Paraplegia Type 9B	Postural tremor, Kyphoscoliosis, Corpus callosum atrophy, Babinski sign, Tetraplegia, Tip-toe gai...	ORPHA:447760
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t...	ORPHA:83629
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Sialidosis Type 2	Tremor, Kyphosis, Ataxia, Generalized hypotonia	ORPHA:87876
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Axial hypotonia, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Unsteady g...	ORPHA:35069
Gillespie Syndrome	Cerebellar atrophy, Postural tremor, Ataxia, Slurred speech, Cerebellar hypoplasia, Generalized h...	OMIM:206700
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Saccharopinuria	Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia	ORPHA:3124
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Gait disturbance, Hypotonia	ORPHA:1875
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Facial hypotonia, Small for gestational age, Inability to walk, Chorea, Cereb...	ORPHA:404454
Flynn-Aird Syndrome	Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis, Cerebral cortical atrophy	ORPHA:2047
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia	OMIM:141300
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Small for gestational age	ORPHA:85288
Pick Disease Of Brain	Neuronal loss in central nervous system, Gliosis	OMIM:172700
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Tremor, Inability to walk, Brain atrophy, Infantile muscular hypotonia, Spasticity	OMIM:618718
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Bethlem Myopathy 2	Kyphosis, Generalized hypotonia, Hypotonia, Scoliosis	OMIM:616471
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Congenital Disorder Of Glycosylation, Type Ie	Ataxia, Tremor, Patent ductus arteriosus, Hypotonia, Pontocerebellar atrophy, Generalized hypoton...	OMIM:608799
Adducted Thumbs Syndrome	Myelin-dependent gliosis, Generalized hypotonia	OMIM:201550
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Spastic tetraplegia, Chiari type I malforma...	OMIM:618476
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, ...	OMIM:618443
Riboflavin Transporter Deficiency	Ataxia, Cachexia, Tremor, Hypotonia, Myoclonus, Cerebral cortical atrophy	ORPHA:97229
Sialidosis Type 1	Ataxia, Tremor, Kyphosis, Slurred speech, Hypotonia, Abnormal form of the vertebral bodies, Gait ...	ORPHA:812
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Impaired vibration sensation in the lower limbs, Gait ataxia, Spastic dysarthria, Progressive cer...	ORPHA:95433
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val...	ORPHA:85451
Xeroderma Pigmentosum, Complementation Group F	Ataxia, Tremor, Brain atrophy, Scoliosis, Decreased body weight	OMIM:278760
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Sjögren-Larsson Syndrome	Kyphosis, Abnormal pyramidal sign, Hypotonia, Spastic diplegia, Scoliosis, Spasticity	ORPHA:816
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G...	ORPHA:206594
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypotonia, Ankle clonus, Falls, Gliosis, Difficulty walking, Dystonia	OMIM:618222
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Cerebral atrophy...	OMIM:610217
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Cerebral atrophy	OMIM:618453
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Tremor, Hypoesthesia, Obesity, Hemiparesis, Hypertonia, Scoliosis	OMIM:619737
Autism Spectrum Disorder Due To Auts2 Deficiency	Cerebral palsy, Small for gestational age, Kyphosis, Hypertonia, Generalized hypotonia, Scoliosis...	ORPHA:352490
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Gait disturb...	ORPHA:765
Intellectual Developmental Disorder, Autosomal Dominant 26	Cerebral palsy, Small for gestational age, Kyphosis, Hypertonia, Generalized hypotonia, Scoliosis	OMIM:615834
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare...	ORPHA:43
Borjeson-Forssman-Lehmann Syndrome	Kyphosis, Hypotonia, Obesity, Generalized hypotonia, Scoliosis, Scheuermann-like vertebral change...	OMIM:301900
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Kyphosis, Patent ductus arteriosus, Hypotonia, Cerebral atrophy, Scoliosis	OMIM:619797
Developmental And Epileptic Encephalopathy 4	Tremor, Spastic paraplegia, Hypotonia, Spastic tetraplegia, Cerebral atrophy, Choreoathetosis	OMIM:612164
Dystonia-Deafness Syndrome 1	Generalized dystonia, Small for gestational age, Oculogyric crisis, Kyphoscoliosis, Leg dystonia,...	OMIM:607371
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Hypotonia, Scoliosis, Obesity	ORPHA:276630
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Mohr-Tranebjaerg Syndrome	Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm...	ORPHA:52368
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf...	OMIM:168605
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism, Chorea, Bab...	ORPHA:225147
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Truncal ataxia, Dysmetria, Limb ataxia, Distal sensory impairm...	OMIM:617675
4Q21 Microdeletion Syndrome	Short neck, Tremor, Kyphosis, Hypotonia, Cerebellar hypoplasia, Scoliosis	ORPHA:238750
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Tremor, Poor coordination, Hypotonia, Gait disturbance, Abnormality of pain sensation	ORPHA:544254
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Ataxia-Telangiectasia	Ataxia, Tremor, Gait disturbance, Spasticity, Failure to thrive	ORPHA:100
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Facial hypotonia, Involuntary movements, Chorea, Hypotonia, Dysmetria, Atheto...	OMIM:615273
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Axial hypotonia, Facial hypotonia, Cerebellar vermis hypoplasia, Kyphosis, Ba...	ORPHA:364028
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Abnormal cerebellum morphology, Kinetic tremor	OMIM:190310
Aceruloplasminemia	Abnormal dentate nucleus morphology, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Ak...	ORPHA:48818
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Spinal rigidity, Short neck, Kyphosis, Generalized hypotonia, Scoliosis, Frequent falls	ORPHA:75840
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Dystonia, Hyperlordosis, Tremor, Kyphosis, Patent ductus arteriosus...	ORPHA:354
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal sensory impairment	OMIM:607734
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity	ORPHA:803
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Kleefstra Syndrome Due To A Point Mutation	Large for gestational age, Hypotonia, Gliosis, Cerebellar hypoplasia, Failure to thrive	ORPHA:261652
Congenital Toxoplasmosis	Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly	ORPHA:858
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Hypotonia, Spastic tetraplegia, Opisthotonus, Cerebral atrophy, Hyperto...	OMIM:252160
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Axial hypotonia, Hypoplasia of the pons, Vocal cord paralysis, Myoclonus, Scoliosis, Dystonia, Sp...	ORPHA:500144
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Hypotonia, Tetraparesis, Brain atrophy, ...	OMIM:617186
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis...	ORPHA:502423
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Impaired neutrophil chemotaxi...	OMIM:618986
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast...	ORPHA:572798
Cockayne Syndrome	Cerebellar atrophy, Somatic sensory dysfunction, Axial hypotonia, Ataxia, Cachexia, Action tremor...	ORPHA:191
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Head titubation, Kyphosis, Hypoplasia of the pons, Dysmetria, Cerebel...	OMIM:619708
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss, Periodic paralysis	OMIM:613239
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Vocal cord paraly...	ORPHA:98863
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hemiplegia, Kyphosis, Gait disturbance, Scoliosis	ORPHA:2181
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso...	OMIM:311510
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Infantile Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly	OMIM:269920
Intellectual Disability-Developmental Delay-Contractures Syndrome	Oculomotor apraxia, Kyphosis, Scoliosis	ORPHA:3454
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Familial Cervical Artery Dissection	Paresthesia, Paralysis	ORPHA:36382
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration, Olivopont...	OMIM:146500
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Wieacker-Wolff Syndrome	Dystonia, Hyperlordosis, Short neck, Kyphosis, Hypotonia, Cerebral atrophy, Generalized hypotonia...	OMIM:314580
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Tremor, Hypotonia, Cerebral atrophy, Opisthotonus, Choreoathetosis, H...	OMIM:616271
Sneddon Syndrome	Tremor, Chorea, Hemiparesis	ORPHA:820
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy...	ORPHA:217260
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Cerebral atrophy, Head tremor, Atrophy...	ORPHA:314404
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Difficulty wal...	OMIM:607155
Charcot-Marie-Tooth Disease Type 4B2	Kyphoscoliosis, Tremor, Inability to walk, Vocal cord paralysis, Distal sensory impairment, Poor ...	ORPHA:99956
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Joubert Syndrome	Cerebellar vermis hypoplasia, Ataxia, Tremor, Hypotonia, Abnormal form of the vertebral bodies, G...	ORPHA:475
Japanese Encephalitis	Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Paucity of anterior horn motor...	ORPHA:79139
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Sacral dimple, Dystonia, Ataxia, Cerebellar vermis hypoplasia, Short neck, Tr...	OMIM:300966
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Broad-based gait, Inability to walk, Axonal degeneration, Vocal cord paralysis, Hypotonia	OMIM:615490
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lower limb spasticity, Axial hypotonia, Short neck, Large for gestational age, Patent ductus arte...	OMIM:300868
Scapuloperoneal Spinal Muscular Atrophy	Torticollis, Broad-based gait, Hyperlordosis, Kyphosis, Distal sensory impairment, Scoliosis	OMIM:181405
Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Hypoton...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Hypoton...	ORPHA:98853
Ck Syndrome	Hyperlordosis, Kyphosis, Generalized hypotonia, Scoliosis, Slender build	OMIM:300831
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Gliosis, Apraxia, Neuronal loss in central nervous system, Cerebral cortical atrophy	OMIM:607485
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Hypotonia, Myoclonus, Loss of ambul...	OMIM:607426
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Respiratory paralysis, Paralysis	ORPHA:681
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Abnormal muscle tone, ...	OMIM:252150
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spastic...	OMIM:616840
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis	OMIM:300434
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Multiple Acyl-Coa Dehydrogenase Deficiency	Hyperlordosis, Inability to walk, Hypotonia, Gliosis, Hepatic periportal necrosis	ORPHA:26791
Alg1-Cdg	Cerebellar atrophy, Kyphosis, Hypotonia, Cerebral atrophy, Scoliosis	ORPHA:79327
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Kyphosis, Obesity, Hyperlordosis	ORPHA:3085
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Hypotonia, Gait disturbance, Scoliosis, Oculomotor ...	ORPHA:220497
Glioblastoma	Glioblastoma multiforme, Paralysis	ORPHA:360
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Axial hypotonia, Ataxia, Hypotonia, Cerebral atrophy, Gliosis, Generalized hy...	OMIM:124000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Dysesthesia, Babinski sign, Vocal cord paralysis, Gait ataxia, Chiar...	ORPHA:268882
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with...	OMIM:607060
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis, Parkinsonism	OMIM:606688
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly	OMIM:614702
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability ...	ORPHA:466768
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Kyphosis, Hypotonia, Tip-toe gait, Scoliosis, Neonatal hypotonia, ...	ORPHA:536516
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis	ORPHA:2617
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Short neck, Kyphosis, Generalized hypotonia, Failure to thrive, Global brain ...	OMIM:608776
Proximal 16P11.2 Microduplication Syndrome	Tremor, Hemivertebrae, Hypotonia, Scoliosis, Failure to thrive, Decreased body mass index	ORPHA:370079
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s...	OMIM:105210
Caribbean Parkinsonism	Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P...	ORPHA:97355
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Failure to thrive, Hypotonia, Scoliosis	OMIM:618234
Cockayne Syndrome Type 2	Lower limb spasticity, Axial hypotonia, Ataxia, Kyphosis, Gait disturbance, Scoliosis, Difficulty...	ORPHA:90322
Zimmermann-Laband Syndrome 3	Kyphosis, Patent ductus arteriosus, Generalized hypotonia	OMIM:618658
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Hypotonia, Gait disturbance, Scoliosis, Oculomotor ...	ORPHA:220493
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Dystonia	OMIM:304700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Kyphosis, Axonal degeneration	OMIM:618138
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper...	OMIM:235200
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Rigidity, Kyphosis, Hypotonia, Progressive spastic quadriplegia, Ab...	ORPHA:521426
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Hypotonia, Generalized hypotonia, Scoliosis	OMIM:618484
Winchester Syndrome	Kyphosis	OMIM:277950
Wieacker-Wolff Syndrome, Female-Restricted	Short neck, Kyphosis, Inability to walk, Generalized hypotonia, Scoliosis, Oculomotor apraxia, Br...	OMIM:301041
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Hypotonia, Dysmetria	OMIM:615578
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Exaggerated startle response, Axial hypotonia, Cerebellar vermis hypopl...	OMIM:615574
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Myopathy, Centronuclear, 2	Waddling gait, Hyperlordosis, Kyphosis, Scoliosis, Neonatal hypotonia	OMIM:255200
Alexander Disease	Ataxia, Clonus, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyramidal sign, Hyp...	ORPHA:58
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations, Pa...	ORPHA:682
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Olivopontocer...	OMIM:212065
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
O'Sullivan-Mcleod Syndrome	Tremor, Atrophy of the spinal cord, Somatic sensory dysfunction, Fasciculations	ORPHA:99965
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Ataxia, Tremor, Obesity, Myoclonus, Scoliosis, Infantile muscular hypotonia, Ga...	ORPHA:98794
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Kleefstra Syndrome 2	Kyphosis, Generalized hypotonia, Hypotonia, Scoliosis	OMIM:617768
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Generalized hypotonia	OMIM:618512
Glossopharyngeal Neuralgia	Dysesthesia, Vocal cord paralysis, Weight loss, Chiari type I malformation, Abnormality of the ce...	ORPHA:221098
Triosephosphate Isomerase Deficiency	Tremor, Kyphosis, Unsteady gait, Hypotonia, Cerebral atrophy, Generalized hypotonia, Dystonia, Sp...	OMIM:615512
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Dystonia, Ataxia, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Hypotonia, Dys...	OMIM:220111
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intent...	OMIM:254900
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Cerebellar atrophy, Spinal rigidity	OMIM:615084
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Hypotonia, Obesity, Tip-toe g...	ORPHA:98855
Rett Syndrome, Congenital Variant	Dystonia, Kyphosis, Chorea, Athetosis, Generalized hypotonia, Scoliosis, Neonatal hypotonia, Spas...	OMIM:613454
Congenital Myopathy 15	Waddling gait, Vocal cord paralysis, Hypotonia	OMIM:620161
Hypokalemic Periodic Paralysis, Type 1	Hypotonia, Periodic paralysis	OMIM:170400
Hall-Riggs Syndrome	Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive	OMIM:234250
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Hypotonia, Scoliosis	ORPHA:2598
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Glutaryl-Coa Dehydrogenase Deficiency	Pallidal degeneration, Dystonia, Ataxia, Severe muscular hypotonia, Poor motor coordination, Trem...	ORPHA:25
Typhoid	Tremor, Hypertonia, Ataxia	ORPHA:99745
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Spinal rigidity, Kyphosis, Scoliosis, Neonatal hypotonia, Failure to thrive, Slender...	OMIM:254090
Mulibrey Nanism	Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly	OMIM:253250
Pseudo-Torch Syndrome 3	Leukocytosis, Congenital thrombocytopenia, Anemia, Cardiomegaly	OMIM:618886
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Crisponi Syndrome	Kyphosis, Hypertonia, Scoliosis	ORPHA:1545
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Hypotonia, Scoliosis	ORPHA:1548
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Broad-based gait, Ataxia, Small for gestational age, Failure to thrive in infancy,...	ORPHA:268261
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Fetal Akinesia Deformation Sequence 4	Kyphosis, Short neck	OMIM:618393
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy	OMIM:212140
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Corpus callosum atrophy, Hypotonia, Gliosis, Neonatal hypotonia, Failure to t...	OMIM:261515
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Cerebellar vermis hypoplasia, Severe muscular hypotonia, Kyphosis, Cerebellar hypo...	OMIM:618291
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Parkinsonism, Tremor, Fasciculations, Difficulty walking, Frequent falls	ORPHA:329478
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Inability to walk, Overweight, Hypotonia,...	OMIM:619229
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc...	OMIM:603903
Schaaf-Yang Syndrome	Failure to thrive in infancy, Kyphosis, Inability to walk, Obesity, Scoliosis, Neonatal hypotonia	OMIM:615547
Fucosidosis	Kyphosis, Abnormal pyramidal sign, Hypotonia, Spastic tetraplegia, Anterior beaking of lumbar ver...	ORPHA:349
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Hypotonia, Scoliosis	OMIM:300676
Snakebite Envenomation	Pseudobulbar paralysis, Respiratory paralysis, Paralysis	ORPHA:449285
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hypotonia, Generalized hypotonia, Paralysis	OMIM:612300
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Periodic paralysis	OMIM:188580
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Small for gestational age, In...	OMIM:617799
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo...	ORPHA:93314
Cardiac-Urogenital Syndrome	Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp...	OMIM:618280
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Ataxia, Tremor, Hypotonia, Gait ataxia, Lumbar scoliosis, Cerebellar hypoplasia, Generalized hypo...	OMIM:300998
Micro Syndrome	Cerebellar vermis hypoplasia, Kyphosis, Abnormal cerebellum morphology, Hypotonia, Scoliosis, Spa...	ORPHA:2510
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign, Hypoton...	OMIM:617527
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis	OMIM:313420
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Cerebellar atrophy, Spinal rigidity	ORPHA:352447
12Q14 Microdeletion Syndrome	Tremor, Hypotonia, Chiari malformation, Scoliosis, Failure to thrive	ORPHA:94063
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Tick-Borne Encephalitis	Back pain, Speech apraxia, Somatic sensory dysfunction, Incoordination, Abnormal medulla oblongat...	ORPHA:297
Emanuel Syndrome	Sacral dimple, Torticollis, Kyphosis, Patent ductus arteriosus, Hypotonia, Cerebral atrophy, Scol...	OMIM:609029
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Hyperlordosis, Large for gestational age, Kyphosis, Hypotonia, Gait ataxia, S...	OMIM:617011
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Cachexia, Short neck, Tremor, Kyphosis, Obesity, Scoliosis	ORPHA:85293
Arthrogryposis, Distal, Type 5	Kyphosis, Hypertonia, Scoliosis	OMIM:108145
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Hyperlysinemia	Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic diplegia, Dysmetr...	ORPHA:2203
Papillorenal Syndrome	Chiari type I malformation, Gliosis, Scoliosis	OMIM:120330
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Generalized hypotonia, Hypotonia, Scoliosis	OMIM:130060
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ...	ORPHA:324410
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Resting tremor, Failure to thrive, Ataxia, Tremor, Rigidity, Gait ataxia, Cog...	ORPHA:254892
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Mcdonough Syndrome	Kyphosis, Cachexia, Scoliosis	ORPHA:2471
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Purine Nucleoside Phosphorylase Deficiency	Ataxia, Tremor, Hypotonia, Spastic diplegia, Tetraparesis, Generalized hypotonia, Failure to thrive	OMIM:613179
Joubert Syndrome With Hepatic Defect	Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia of the cerebellum, Tremor, Hypotonia, Ga...	ORPHA:1454
Typical Nemaline Myopathy	Waddling gait, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Gait disturbance, Scoliosis,...	ORPHA:171436
Hypomelanosis Of Ito	Kyphosis, Scoliosis, Cerebral atrophy	OMIM:300337
Gm1-Gangliosidosis, Type I	Short neck, Kyphosis, Hypotonia, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Cerebral de...	OMIM:230500
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Axial hypotonia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Patent ductus arterios...	OMIM:300967
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatic periportal necrosis, Gliosis, Hypotonia	OMIM:231680
Foodborne Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dystonia, Intention tremor...	ORPHA:646
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Large for gestational age, Tremor, Patent ductus arteriosus, Hypotonia, Cereb...	OMIM:614080
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Tremor, Kyphosis, Patent ductus arteriosus, Hypotonia, Scoliosis	OMIM:617061
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:94080
Poliomyelitis	Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Paresthesia, Fasciculations	ORPHA:2912
Zimmermann-Laband Syndrome 2	Kyphosis, Hypotonia, Generalized hypotonia, Short neck	OMIM:616455
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Mogs-Cdg	Hepatomegaly, Absent brainstem auditory responses, External genital hypoplasia, Cardiomegaly, Opt...	ORPHA:79330
Tetanus	Tremor, Rigidity, Opisthotonus, Hypertonia, Spasticity of pharyngeal muscles	ORPHA:3299
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Gait disturbance	ORPHA:85193
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx...	OMIM:156530
Coffin-Lowry Syndrome	Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Hypertonia, Gait disturbance, Scolios...	ORPHA:192
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto...	OMIM:183900
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive...	ORPHA:512
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis	OMIM:615761
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios...	ORPHA:2635
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity...	ORPHA:67036
Pelger-Huet Anomaly	Kyphosis, Lower limb hypertonia, Failure to thrive	OMIM:169400
Desbuquois Dysplasia 1	Waddling gait, Hyperlordosis, Short neck, Kyphosis, Hypotonia, Obesity, Platyspondyly, Scoliosis,...	OMIM:251450
Arthrogryposis, Distal, Type 4	Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis	OMIM:609128
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia	ORPHA:713
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tremor, Kyphosis, Gait ataxia, Scoliosis, Failure to thrive	ORPHA:476126
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Young-Onset Parkinson Disease	Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity	ORPHA:2828
Ataxia-Telangiectasia	Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia...	OMIM:208900
Congenital Myopathy 22A, Classic	Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Hypotonia, Generalized hypotonia, S...	OMIM:620351
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the...	OMIM:158330
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly	ORPHA:391428
2P15P16.1 Microdeletion Syndrome	Lower limb spasticity, Kyphosis, Hypotonia, Gait disturbance, Cerebellar hypoplasia, Generalized ...	ORPHA:261349
Mucopolysaccharidosis, Type Ivb	Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Plat...	OMIM:253010
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Gabriele-De Vries Syndrome	Waddling gait, Facial hypotonia, Small for gestational age, Tremor, Hypotonia, Gliosis, Dystonia	ORPHA:506358
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia, Cardiomegaly	ORPHA:99931
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Pyruvate Carboxylase Deficiency	Ataxia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Hypotonia, Tip-toe gait, Generalized...	ORPHA:3008
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy	OMIM:616897
Alternating Hemiplegia Of Childhood	Ataxia, Facial hypotonia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,...	ORPHA:2131
Mucopolysaccharidosis, Type Iva	Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc...	OMIM:253000
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Tremor, Choreoathetosis, Myoclonus, Infan...	ORPHA:1934
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven...	OMIM:306955
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Porphyria, Acute Intermittent	Respiratory paralysis, Paresthesia, Paralysis	OMIM:176000
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Kyphosis, Hypo...	ORPHA:457359
Wolfram Syndrome 1	Tremor, Ataxia, Cerebral atrophy	OMIM:222300
Cono-Spondylar Dysplasia	Short neck, Kyphosis, Poor coordination, Hypotonia, Scoliosis, Failure to thrive	ORPHA:420794
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Tetraplegia, Cerebral atrophy, Hemiparesis, Subcortical cerebral atrophy, Hy...	ORPHA:2396
Smith-Mccort Dysplasia 1	Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability...	OMIM:607326
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Shashi-Pena Syndrome	Kyphosis, Patent ductus arteriosus, Hypotonia, Scoliosis, Cervical C2/C3 vertebral fusion, Limb h...	OMIM:617190
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Axial hypotonia, Infantile axial hypotonia, Increased interv...	ORPHA:508533
Dpagt1-Cdg	Ataxia, Akinesia, Tremor, Abnormal cerebellum morphology, Inability to walk, Hypertonia, Cerebell...	ORPHA:86309
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Kyphosis, Scoliosis, Short neck	ORPHA:178148
Marden-Walker Syndrome	Short neck, Kyphosis, Hypotonia, Cerebellar hypoplasia, Generalized hypotonia, Scoliosis, Inferio...	OMIM:248700
Trisomy 13	Kyphosis, Patent ductus arteriosus, Hypotonia, Chiari malformation, Scoliosis	ORPHA:3378
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Hypotonia, Obesity	OMIM:614947
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomegaly	ORPHA:42
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Hypotonia, Platyspondyly	ORPHA:2655
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Ataxia, Tremor, Hypotonia, Gait disturbance, Generalized hypotonia,...	ORPHA:2754
Gitelman Syndrome	Failure to thrive, Ataxia, Paresthesia, Paralysis	OMIM:263800
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Cachexia, Paralysis, Oculomotor apraxia, Spastic paraplegia, Limb ataxia, Appen...	ORPHA:2072
15Q24 Microdeletion Syndrome	Small for gestational age, Kyphosis, Hypotonia, Obesity, Scoliosis, Failure to thrive	ORPHA:94065
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic...	ORPHA:79102
Refsum Disease, Classic	Cardiomyopathy, Cardiomegaly	OMIM:266500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Ataxia, Small for gestational age, Tremor, Hypotonia, Generalized hypotonia, Failure to thrive, I...	OMIM:614052
Weaver Syndrome	Kyphosis, Patent ductus arteriosus, Slurred speech, Hypotonia, Poor fine motor coordination, Hype...	OMIM:277590
Alpha-Mannosidosis	Kyphosis, Hypotonia, Scoliosis, Short neck	ORPHA:61
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis	ORPHA:397744
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Tremor, Failure to thrive, Ataxia	OMIM:201100
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Generalized dystonia, Scoliosis	ORPHA:79107
Mucolipidosis Iii Gamma	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:252605
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
19P13.12 Microdeletion Syndrome	Aplasia/Hypoplasia of the cerebellar vermis, Short neck, Kyphosis, Hypotonia, Obesity, Scoliosis	ORPHA:254346
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomega...	OMIM:602782
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Pycnodysostosis	Hyperlordosis, Overweight, Kyphosis, Chiari malformation, Spondylolysis, Scoliosis, Upper motor n...	ORPHA:763
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Ataxia, Hypotonia, Scoliosis	ORPHA:2479
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Scoliosis,...	OMIM:612199
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:617713
Diastrophic Dysplasia	Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical verte...	ORPHA:628
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Large for gestational age	OMIM:618272
Spondyloepiphyseal Dysplasia Congenita	Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal...	ORPHA:94068
Clark-Baraitser syndrome	Kyphosis, Obesity, Scoliosis	OMIM:300602
Cowden Syndrome 1	Kyphosis, Dysplastic gangliocytoma of the cerebellum, Scoliosis, Intention tremor	OMIM:158350
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg...	OMIM:618278
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:201475
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Hypotonia	OMIM:615433
Inhalational Botulism	Paralysis	ORPHA:254504
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Obesity, Scoliosis, Short neck	ORPHA:3191
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Testicul...	ORPHA:465508
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Inability to walk, Kyphosis, Unsteady gait, Obesity, Generalized hypotonia, Scoliosis	OMIM:618493
Thanatophoric Dysplasia Type 2	Patent ductus arteriosus, Kyphosis, Platyspondyly, Hypotonia	ORPHA:93274
Paramyotonia Congenita Of Von Eulenburg	Neonatal hypotonia, Periodic hypokalemic paresis	ORPHA:684
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Chiari mal...	ORPHA:2789
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Tremor, Babinski sign, Hypotonia, Hypertonia, Brain atrophy, Spasticity, Failure to thrive	OMIM:616539
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly	OMIM:268800
Helsmoortel-Van Der Aa Syndrome	Hyperlordosis, Hypotonia, Obesity, Truncal obesity, Gliosis, Scoliosis, Failure to thrive	OMIM:615873
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
3C Syndrome	Short neck, Kyphosis, Hemivertebrae, Hypotonia, Scoliosis, Aplasia/Hypoplasia of the cerebellum, ...	ORPHA:7
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Infantile muscular hypotonia, Tho...	ORPHA:15
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Pseudoachondroplasia	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,...	OMIM:177170
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Clonus, Abnormal curvature of the vertebral column, Hypertonia, Decreased body weight,...	OMIM:619475
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Hypotonia, Cerebral atrophy, Scoliosis, Spasticity	OMIM:616449
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Optic atrophy, Cardiomegaly	OMIM:619259
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Kyphosis, Hypotonia, Gait disturbance, Scoliosis, Neonatal hypotonia, Failure to thrive	ORPHA:500055
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol...	ORPHA:582
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Trisomy 20P	Incoordination, Short neck, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:261318
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Scoliosis, Periodic paralysis	ORPHA:37553
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Kyphosis, Patent ductus arteriosus, Hypotonia, Chiari type I malfor...	OMIM:130720
Cutis Laxa, Autosomal Recessive, Type Iid	Failure to thrive, Generalized hypotonia, Gliosis, Kyphoscoliosis	OMIM:617403
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Mgat2-Cdg	Kyphosis, Patent ductus arteriosus, Hypotonia, Cerebellar hypoplasia, Generalized hypotonia, Scol...	ORPHA:79329
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Tremor, Hemiplegia/hemiparesis, Abno...	ORPHA:51
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Scoliosis	ORPHA:137834
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Weight loss	ORPHA:142
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia, Abnormal cardiac septum morphology, Tetralogy of Fallot, Aplasia of the uterus	ORPHA:3320
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck	ORPHA:2522
Rift Valley Fever	Back pain, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity	ORPHA:319251
Distal 16P11.2 Microdeletion Syndrome	Neonatal hypotonia, Kyphosis, Obesity	ORPHA:261222
African Trypanosomiasis	Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa...	ORPHA:3385
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Patent ductus arteriosus, Hypotonia, Cerebral atrophy, Hypertonia, Generalized hy...	OMIM:617248
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus	OMIM:146255
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Cowden Syndrome 5	Kyphosis, Scoliosis, Intention tremor	OMIM:615108
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Brachial plexus neuropathy, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Rhizomelic Syndrome, Urbach Type	Kyphosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Distal Triplication 15Q	Large for gestational age, Kyphosis, Patent ductus arteriosus, Hypotonia, Scoliosis, Dandy-Walker...	ORPHA:314588
Urban-Rogers-Meyer Syndrome	Kyphosis, Obesity, Short neck	ORPHA:3409
Marshall-Smith Syndrome	Thoracic scoliosis, Axial hypotonia, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis...	OMIM:602535
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Harrod Syndrome	Kyphosis, Failure to thrive, Cerebral cortical atrophy, Scoliosis	ORPHA:2115
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Septate vagina, Uterus didelphys, Abnormal heart morphology, Aplasia of the uterus, Vaginal atresia	ORPHA:2237
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ...	ORPHA:93360
Basel-Vanagaite-Smirin-Yosef Syndrome	Inability to walk, Kyphosis, Hypotonia, Cerebral atrophy, Scoliosis, Difficulty walking, Spasticity	ORPHA:464738
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Axial hypotonia, Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Kyphosis, Hemivertebrae, Hypotonia, Cerebral atrophy, Scoliosis, Infantile muscul...	OMIM:301040
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Cowden Syndrome 6	Kyphosis, Scoliosis, Intention tremor	OMIM:615109
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Anemia	OMIM:608013
Ruvalcaba Syndrome	Kyphosis, Scoliosis	OMIM:180870
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst...	ORPHA:90793
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Cockayne Syndrome A	Cerebellar atrophy, Ataxia, Tremor, Kyphosis, Cerebral atrophy, Gait disturbance, Failure to thrive	OMIM:216400
Cockayne Syndrome B	Ataxia, Cerebellar calcifications, Small for gestational age, Tremor, Kyphosis, Cerebral atrophy,...	OMIM:133540
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Wolf-Hirschhorn Syndrome	Sacral dimple, Ataxia, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Abnormality of...	ORPHA:280
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:276621
Orofaciodigital Syndrome Iii	Kyphosis, Myoclonus	OMIM:258850
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod...	ORPHA:2311
Cockayne Syndrome Type 3	Kyphosis, Unsteady gait, Astrocytosis, Scoliosis, Difficulty walking, Intention tremor, Brain atr...	ORPHA:90324
Oculopharyngodistal Myopathy 1	Ataxia, Tremor, Weight loss, Brain atrophy, Difficulty walking	OMIM:164310
Dyggve-Melchior-Clausen Disease	Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl...	OMIM:223800
Prader-Willi Syndrome	Failure to thrive in infancy, Impaired pain sensation, Kyphosis, Poor gross motor coordination, O...	OMIM:176270
Schwartz-Jampel Syndrome	Abnormally ossified vertebrae, Cachexia, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Ab...	ORPHA:800
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic hypokalemic paresis, Scoliosis, Periodic paralysis	OMIM:170390
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Hypotonia, Platyspondyly	ORPHA:1860
Atelis Syndrome 2	Patent ductus arteriosus, Kyphosis, Sacral dimple, Dysmetria	OMIM:620185
Spondyloenchondrodysplasia	Kyphosis, Platyspondyly, Chorea, Spasticity	ORPHA:1855
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Mend Syndrome	Sacral dimple, Axial hypotonia, Kyphosis, Hypotonia, Hypertonia, Failure to thrive, Dandy-Walker ...	OMIM:300960
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Camurati-Engelmann Disease	Waddling gait, Ataxia, Cachexia, Hyperlordosis, Kyphosis, Abnormality of the vertebral column, Sc...	ORPHA:1328
Stickler Syndrome, Type I	Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist...	OMIM:108300
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Patent ductus arteriosus, S...	OMIM:610443
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:253220
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:2771
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr...	ORPHA:168558
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial...	ORPHA:96191
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver...	ORPHA:2916
Cowden Syndrome	Ataxia, Kyphosis, Abnormal cerebellum morphology, Scoliosis, Failure to thrive	ORPHA:201
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly	OMIM:608836
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Scoliosis	ORPHA:1883
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr...	ORPHA:289548
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Tip-toe gait, Generalized hypotonia, Scoliosis, Failure to thrive	OMIM:618050
Fountain Syndrome	Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3219
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Hypotonia, Scoliosis	OMIM:617143
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Short neck	ORPHA:2983
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Kyphosis, Hypotonia, Scoliosis	ORPHA:404440
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:308552
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Hypotonia, Scoliosis	ORPHA:261144
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:614921
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Short neck	ORPHA:3082
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula...	OMIM:245600
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Corpus callosum atrophy, Kyphosis, Hypotonia, Cerebral atrophy	OMIM:619244
Mend Syndrome	Sacral dimple, Kyphosis, Generalized hypotonia, Failure to thrive, Dandy-Walker malformation, Lim...	ORPHA:401973
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Axial hypotonia	OMIM:603387
Magel2-Related Prader-Willi-Like Syndrome	Impaired temperature sensation, Kyphosis, Increased body weight, Abdominal obesity, Scoliosis, In...	ORPHA:398069
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis	ORPHA:3121
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Small for gestational age, Kyphosis, Patent ductus arteriosus, Gait disturbance, Scoliosis, Failu...	ORPHA:464311
Mucopolysaccharidosis Type 6	Kyphosis, Failure to thrive, Ovoid vertebral bodies, Short neck	ORPHA:583
Monosomy 9Q22.3	Short neck, Large for gestational age, Kyphosis, Hypotonia, Abnormality of the vertebral column, ...	ORPHA:77301
Fucosidosis	Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly	OMIM:230000
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Hepatomegaly, Cardiomegaly	OMIM:618143
Zttk Syndrome	Kyphosis, Patent ductus arteriosus, Hemivertebrae, Hypotonia, Cerebellar hypoplasia, Scoliosis, N...	OMIM:617140
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
3M Syndrome	Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis	ORPHA:2616
X-Linked Intellectual Disability, Snyder Type	Involuntary movements, Kyphoscoliosis, Kyphosis, Inability to walk, Unsteady gait, Myoclonus, Inf...	ORPHA:3063
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly	ORPHA:228308
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Polycystic ovaries	ORPHA:137675
Holt-Oram Syndrome	Kyphosis, Patent ductus arteriosus, Scoliosis	ORPHA:392
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis	OMIM:259420
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Generalized hypotonia, Scoliosis, Hyperlordosis	OMIM:617821
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:29072
Dyrk1A-Related Intellectual Disability Syndrome	Small for gestational age, Kyphosis, Patent ductus arteriosus, Gait disturbance, Scoliosis, Failu...	ORPHA:464306
Koolen-De Vries Syndrome	Vertebral fusion, Kyphosis, Hypotonia, Vertebral segmentation defect, Scoliosis	ORPHA:96169
Meckel Syndrome 14	Ambiguous genitalia, Aplasia of the uterus, Single ventricle	OMIM:619879
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compression fracture	OMIM:219090
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Hypotonia, Abnormal form of the vertebral bodies	ORPHA:2050
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly, Hypotonia	OMIM:616294
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Scoliosis	OMIM:615381
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Kyphosis, Scoliosis, Decreased body weight, Neonatal hypotonia	OMIM:619005
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Optic atrophy, Abnormal aortic valve morphology, Abnorm...	ORPHA:581
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Marden-Walker Syndrome	Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Cerebellar hypoplasia, Scoliosis, Fai...	ORPHA:2461
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Ependymoma, Vo...	ORPHA:798
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:232300
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Kyphosis, Hypotonia, Scoliosis	OMIM:619951
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Distal Renal Tubular Acidosis	Failure to thrive, Paralysis	ORPHA:18
Thrombocytopenia-Absent Radius Syndrome	Ventricular septal defect, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Apla...	OMIM:274000
Cohen Syndrome	Failure to thrive in infancy, Kyphosis, Hypotonia, Obesity, Scoliosis	ORPHA:193
Hurler Syndrome	Short neck, Hypoplasia of the odontoid process, Kyphosis, Neurodegeneration, Biconcave vertebral ...	OMIM:607014
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Hyperlordosis, Kyphosis, Hypotonia, Generalized hypotonia, Scoliosis	OMIM:162300
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Sacral dimple, Small for gestational age, Hyperlordosis, Kyphosis, Hypotonia, Chi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Sacral dimple, Small for gestational age, Hyperlordosis, Kyphosis, Hypotonia, Chi...	ORPHA:363958
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:1798
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae	ORPHA:958
Osteogenesis Imperfecta	Somatic sensory dysfunction, Ataxia, Cervical kyphosis, Small for gestational age, Kyphosis, Vert...	ORPHA:666
Aspartylglucosaminuria	Kyphosis, Hypotonia, Spasticity, Cerebral atrophy, Platyspondyly, Spondylolysis, Scoliosis, Gener...	OMIM:208400
Diets-Jongmans Syndrome	Gliosis, Generalized hypotonia	OMIM:618846
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Multiple Pterygium-Malignant Hyperthermia Syndrome	Kyphosis, Hypotonia, Scoliosis	ORPHA:2215
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1005
Congenital Heart Defects And Skeletal Malformations Syndrome	Kyphosis, Failure to thrive, Scoliosis	OMIM:617602
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis, Failure to thrive, Hypotonia	OMIM:239000
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Kyphosis, Hypo...	ORPHA:536532
Hajdu-Cheney Syndrome	Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Patent ductus arteriosus, Chiari malforma...	ORPHA:955
Multiple Pterygium Syndrome, Escobar Variant	Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Gait disturbance, Scolio...	OMIM:265000
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Cardiofacioneurodevelopmental Syndrome	Kyphosis, Cerebellar vermis hypoplasia	OMIM:619123
Abetalipoproteinemia	Hepatomegaly, Reticulocytosis, Acanthocytosis, Cardiomegaly, Anemia	ORPHA:14
Williams Syndrome	Tremor, Abnormal form of the vertebral bodies, Dysmetria, Vertebral segmentation defect, Spina bi...	ORPHA:904
2Q31.1 Microdeletion Syndrome	Short neck, Kyphosis, Hypotonia, Vertebral segmentation defect, Scoliosis, Cerebral cortical atrophy	ORPHA:251014
Alstrom Syndrome	Kyphosis, Truncal obesity, Scoliosis	OMIM:203800
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis, Truncal obesity	OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Truncal obesity	OMIM:610475
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen...	ORPHA:284339
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Smith-Lemli-Opitz Syndrome	Short neck, Kyphosis, Patent ductus arteriosus, Hypotonia, Abnormal form of the vertebral bodies,...	ORPHA:818
Mucopolysaccharidosis, Type Ii	Kyphosis, Neurodegeneration, Short neck	OMIM:309900
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney	OMIM:252500
Noonan Syndrome 14	Kyphosis, Hypotonia, Short neck	OMIM:619745
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Kyphosis, Hypotonia, Generalized hypotonia, Scoliosis, Decreased body weight	OMIM:182210
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Gitelman Syndrome	Failure to thrive, Paresthesia, Paralysis	ORPHA:358
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Kyphosis, Platyspondyly, Lumbar hyperlordosis	OMIM:616482
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Short neck, Kyphosis, Hypotonia, Hypertonia, Scoliosis	OMIM:619194
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Bohring-Opitz Syndrome	Abnormal cardiac septum morphology, Optic atrophy, Cardiomegaly	ORPHA:97297
Hurler-Scheie Syndrome	Kyphosis, Scoliosis	OMIM:607015
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Spinal canal stenosis, Hypotonia, Fused cervical vertebrae, Vertebral...	ORPHA:1724
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega...	ORPHA:75565
Mucolipidosis Type Ii	Axial hypotonia, Inability to walk, Kyphosis, Weight loss, Appendicular hypotonia	ORPHA:576
1P36 Deletion Syndrome	Kyphosis, Hemiplegia/hemiparesis, Patent ductus arteriosus, Hypotonia, Spinal canal stenosis, Obe...	ORPHA:1606
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Hypospadias, Cardiomegaly, Sple...	OMIM:619991
Microphthalmia, Lenz Type	Kyphosis, Scoliosis, Hyperlordosis	ORPHA:568
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert...	ORPHA:90794
Tyrosinemia, Type I	Failure to thrive, Periodic paralysis	OMIM:276700
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck	ORPHA:140
Neurofibromatosis Type 1	Astrocytoma, Ataxia, Kyphosis, Paresthesia, Scoliosis	ORPHA:636
Okamoto Syndrome	Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum...	ORPHA:2729
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral en...	OMIM:143095
Genitopalatocardiac Syndrome	Kyphosis, Scoliosis	ORPHA:2075
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Hypotonia, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Verteb...	OMIM:259770
16Q24.3 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261250
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab...	ORPHA:322
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis, Truncal obesity	OMIM:610489
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C...	ORPHA:3472
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Classic Homocystinuria	Kyphosis, Scoliosis, Hemiplegia/hemiparesis	ORPHA:394
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Scoliosis	OMIM:618223
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Hypotonia, Scoliosis	OMIM:619557
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Hypotonia	OMIM:616914
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Glycogen Storage Disease Due To Acid Maltase Deficiency	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:365
Stickler Syndrome	Cachexia, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Abnormal form of the vertebral...	ORPHA:828
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short neck, Kyphosis, Patent ductus arteriosus, Scoliosis	OMIM:616894
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Difficulty walking, Hypotonia, Scoliosis	OMIM:619482
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis, Weight loss	ORPHA:91347
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Gonadoblastoma, Hypertrophic cardiomyop...	ORPHA:116
Pineoblastoma	Paralysis	ORPHA:251909
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus	ORPHA:457284
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Cachexia, Scoliosis	ORPHA:1969
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop...	ORPHA:3042
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Kyphosis, Hypotonia, Platyspondyly, Abnormality of the vertebral column, Subcortical cerebral atr...	ORPHA:2273
Fanconi Anemia, Complementation Group L	Anemia, Micropenis, Aplasia of the uterus	OMIM:614083
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Epididymitis, Thrombocytopenia	OMIM:256040
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Hypotonia, Prominent coccyx	OMIM:249420
Coffin-Siris Syndrome 1	Sacral dimple, Kyphosis, Patent ductus arteriosus, Hypotonia, Gait ataxia, Scoliosis, Spina bifid...	OMIM:135900
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Gaucher Disease Type 1	Kyphosis, Vertebral compression fracture	ORPHA:77259
Alkaptonuria	Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration	OMIM:203500
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Oculocerebrorenal Syndrome Of Lowe	Clonus, Kyphosis, Platyspondyly, Scoliosis, Neonatal hypotonia, Failure to thrive	ORPHA:534
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular...	OMIM:236680
Sotos Syndrome	Sacrococcygeal teratoma, Cerebellar vermis hypoplasia, Astrocytoma, Tremor, Kyphosis, Patent duct...	ORPHA:821
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Autosomal Recessive Robinow Syndrome	Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1507
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Marfan Syndrome	Cachexia, Kyphosis, Hypotonia, Scoliosis, Slender build, Spondylolisthesis	ORPHA:558
17Q11 Microdeletion Syndrome	Abnormal central motor function, Glioma, Cerebellar glioma, Kyphosis, Abnormality of the vertebra...	ORPHA:97685
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin...	OMIM:130050
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Acromegaly	Kyphosis, Cerebral palsy, Paresthesia, Spinal canal stenosis	ORPHA:963
Somatomammotropinoma	Kyphosis, Cerebral palsy, Paresthesia, Spinal canal stenosis	ORPHA:314769
Lymphedema-Distichiasis Syndrome	Kyphosis, Patent ductus arteriosus	OMIM:153400
Cdags Syndrome	Kyphosis	OMIM:603116
Wolf-Hirschhorn Syndrome	Accessory spleen, Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, Apl...	OMIM:194190
Primrose Syndrome	Ataxia, Kyphosis, Hypotonia, Irregular vertebral endplates, Truncal obesity, Posterior scalloping...	OMIM:259050
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Ramon Syndrome	Kyphosis, Scoliosis, Decreased body weight	OMIM:266270
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt...	OMIM:107480
Neu-Laxova Syndrome 1	Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pat...	OMIM:256520
Cleidocranial Dysplasia 1	Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Lowe Oculocerebrorenal Syndrome	Kyphosis, Hypotonia, Platyspondyly, Scoliosis, Neonatal hypotonia, Failure to thrive	OMIM:309000
Coffin-Lowry Syndrome	Kyphosis, Hypotonia, Lumbar kyphosis, Scoliosis, Decreased body weight	OMIM:303600
Lenz-Majewski Hyperostotic Dwarfism	Kyphosis, Hypotonia, Scoliosis	ORPHA:2658
Poland Syndrome	Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spina bifida occulta	ORPHA:2911
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Hypotonia, Scoliosis	ORPHA:198
Spondyloepimetaphyseal Dysplasia, X-Linked	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi...	OMIM:300106
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Kyphosis, Lumbar hyperlordosis	ORPHA:2232
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis	ORPHA:99413
Mosaic Monosomy X	Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis	ORPHA:99228
Monosomy X	Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis	ORPHA:99226
Turner Syndrome	Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis	ORPHA:881
Occipital Horn Syndrome	Kyphosis, Platyspondyly	OMIM:304150
Wrinkly Skin Syndrome	Kyphosis, Failure to thrive, Hypotonia, Scoliosis	OMIM:278250
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Generalized Arterial Calcification Of Infancy	Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly	ORPHA:51608
Cerebrocostomandibular Syndrome	Kyphosis	ORPHA:1393
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Small for gestational age, Anterior concavity of thoracic vertebrae...	OMIM:216340
Vascular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Hypospadias, Cryptorchidism, Cystocele, Mitral valve prolapse, U...	ORPHA:286
Proteus Syndrome	Kyphosis, Cachexia, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:744
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus	OMIM:276820
Viss Syndrome	Kyphosis, Patent ductus arteriosus, Hypotonia, Scoliosis, Failure to thrive, Butterfly vertebrae	OMIM:619472
Branchiooculofacial Syndrome	Hyperlordosis, Agenesis of cerebellar vermis, Kyphosis, Short neck	OMIM:113620
Norrie Disease	Cryptorchidism, Optic atrophy, Uterine rupture	ORPHA:649
Pallister-Killian Syndrome	Small scrotum, Ventricular septal defect, Hypospadias, Cryptorchidism, Hypoplastic labia majora, ...	OMIM:601803
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Alström Syndrome	Thoracic scoliosis, Incoordination, Ataxia, Somatic sensory dysfunction, Kyphosis, Obesity, Poor ...	ORPHA:64
Genetic Steroid-Resistant Nephrotic Syndrome		ORPHA:656

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ankfy1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ankfy1.

No publications found that use IMPC mice or data for Ankfy1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ankfy1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ankfy1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Ankfy1^{tm1b(KOMP)Mbp}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ankfy1 MGI:1337008

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

Embryo LacZ

X-ray

X-ray

Gross Morphology Embryo E9.5

Human diseases caused by Ankfy1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data