Gene Summary

Name:
neuroplastin
Synonyms:
Sdfr1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased thigmotaxis Nptntm1b(EUCOMM)Hmgu HOM Early adult 4.49×10-18
increased circulating cholesterol level Nptntm1b(EUCOMM)Hmgu HOM Early adult 3.47×10-05
abnormal startle reflex Nptntm1b(EUCOMM)Hmgu HOM Early adult 4.07×10-07
hyperactivity Nptntm1b(EUCOMM)Hmgu HOM Early adult 2.47×10-15
abnormal gait Nptntm1b(EUCOMM)Hmgu HOM Early adult 1.43×10-09
increased hemoglobin content Nptntm1b(EUCOMM)Hmgu HOM Early adult 1.54×10-07
decreased locomotor activity Nptntm1b(EUCOMM)Hmgu HOM Early adult 6.21×10-29
limb grasping Nptntm1b(EUCOMM)Hmgu HOM   Early adult 2.26×10-05
decreased total body fat amount Nptntm1b(EUCOMM)Hmgu HOM Early adult 5.80×10-05
decreased anxiety-related response Nptntm1b(EUCOMM)Hmgu HOM Early adult 7.39×10-11
increased circulating phosphate level Nptntm1b(EUCOMM)Hmgu HOM Early adult 1.41×10-05
abnormal auditory brainstem response Nptntm1b(EUCOMM)Hmgu HOM   Early adult 1.24×10-06
increased mean corpuscular volume Nptntm1b(EUCOMM)Hmgu HOM Early adult 9.57×10-07
abnormal ear morphology Nptntm1b(EUCOMM)Hmgu HOM Early adult 1.97×10-24
tremors Nptntm1b(EUCOMM)Hmgu HOM Early adult 1.19×10-06
increased bone mineral content Nptntm1b(EUCOMM)Hmgu HOM   Early adult 7.91×10-05
decreased prepulse inhibition Nptntm1b(EUCOMM)Hmgu HOM Early adult 6.87×10-22
increased heart weight Nptntm1b(EUCOMM)Hmgu HOM Early adult 4.80×10-06
increased mean corpuscular hemoglobin Nptntm1b(EUCOMM)Hmgu HOM   Early adult 2.24×10-05
abnormal behavior Nptntm1b(EUCOMM)Hmgu HOM Early adult 4.49×10-18
increased circulating iron level Nptntm1b(EUCOMM)Hmgu HOM Early adult 3.80×10-16

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  Wholemount images heterozygote 100% (4 of 4)
Aorta  Wholemount images heterozygote 100% (4 of 4)
Bone  Wholemount images heterozygote 100% (4 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Cartilage tissue  Wholemount images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images heterozygote 100% (4 of 4)
Cerebral cortex  Wholemount images heterozygote 100% (4 of 4)
Esophagus  Wholemount images heterozygote 50% (2 of 4)
Eye  Wholemount images heterozygote 50% (2 of 4)
Gall bladder  Wholemount images heterozygote 50% (2 of 4)
Heart  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images heterozygote 100% (4 of 4)
Large intestine  Wholemount images heterozygote 100% (4 of 4)
Lower urinary tract  Wholemount images heterozygote 100% (4 of 4)
Lung  Wholemount images heterozygote 50% (2 of 4)
Oviduct  Wholemount images heterozygote 25% (1 of 4)
Peripheral nervous system  Wholemount images heterozygote 100% (4 of 4)
Skin  Wholemount images heterozygote 50% (2 of 4)
Small intestine  Wholemount images heterozygote 75% (3 of 4)
Spinal cord  Wholemount images heterozygote 75% (3 of 4)
Stomach  Wholemount images heterozygote 100% (4 of 4)
Striatum  Wholemount images heterozygote 25% (1 of 4)
Testis  Wholemount images heterozygote 75% (3 of 4)
Trachea  Wholemount images heterozygote 100% (4 of 4)
Uterus  Wholemount images heterozygote 25% (1 of 4)
Vascular system  Wholemount images heterozygote 100% (4 of 4)
Brainstem N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 50% (1 of 2)
Brain N/A homozygote 50% (1 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 50% (1 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 50% (1 of 2)
Forebrain N/A heterozygote 50% (1 of 2)
Forebrain N/A homozygote 50% (1 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 50% (1 of 2)
Head N/A heterozygote 50% (1 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 50% (1 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 50% (1 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 587)
aorta 0.17% (1 of 592)
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
esophagus 1.69% (7 of 414)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 586)
oral epithelium 0.0%
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
uterus 0.34% (2 of 589)
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.25% (6 of 479)
ear 0.21% (1 of 469)
embryo 0.43% (2 of 469)
eye 0.21% (1 of 473)
footplate 0.21% (1 of 472)
forebrain 0.22% (1 of 465)
forelimb 0.21% (1 of 472)
handplate 0.21% (1 of 479)
head 0.84% (4 of 475)
heart 0.21% (1 of 467)
hindbrain 1.04% (5 of 479)
hindlimb 0.21% (1 of 477)
liver 0.21% (1 of 478)
lung 0.21% (1 of 467)
mandibular process 0.21% (1 of 469)
maxillary process 0.21% (1 of 477)
midbrain 0.21% (1 of 468)
oral cavity 0.21% (1 of 470)
skin 0.21% (1 of 474)
tail 0.21% (1 of 474)
tail somite group 0.21% (1 of 483)

Associated Images

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

Echo

M-Mode Images

64 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Adult LacZ

LacZ Images Wholemount

23 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Nptn 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... OMIM:616515
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Episodic Ataxia, Type 1
Babinski sign, Elevated circulating creatine kinase concentration, Incoordination, Tremor, Spasti... OMIM:160120
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Vertigo, Ataxia, Abnormal head movements ORPHA:71518
Dystonia 31
Leg dystonia, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal posturing, Arm ... OMIM:619565
Primary Dystonia, Dyt13 Type
Torticollis, Action tremor, Torsion dystonia, Jerky head movements, Craniofacial dystonia, Limb d... ORPHA:98807
Optic Atrophy 2
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal sensory im... OMIM:601382
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Laryngeal dystonia, Increased bone mineral density, Depressio... ORPHA:94089
Autoimmune Hypoparathyroidism
Hypocalcemia, Laryngeal dystonia, Increased bone mineral density, Depression, Anxiety, Myoclonic ... ORPHA:36913
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Impulsivity, Irritability, Depression, Abnormal pyramidal sig... ORPHA:216873
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Somatic sensory dysfu... ORPHA:320401
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Ankle clonus, Babinski sign, Spasticity, Spastic tetraplegia, A... OMIM:616657
Glut1 Deficiency Syndrome 2
Ataxia, EEG abnormality, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptogl... OMIM:612126
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea OMIM:616939
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Jerky head movement... ORPHA:251282
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Pseudohypoparathyroidism Type 2
Hypocalcemia, Laryngeal dystonia, Myoclonic spasms, Hypocalcemic tetany, Hyperphosphatemia, Hypoc... ORPHA:94090
Hyperlysinemia, Type I
Anemia, Hyperlysinemia, Hyperactivity OMIM:238700
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Depression, Myoclonus, Anxiety, Parkinsonism, Inappropriate behavior, Rigidity, Chorea, T... ORPHA:401901
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Spastic ataxia, Hypomethioninemia, Hyper... OMIM:277410
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Irritability, Chvostek sign, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... OMIM:616689
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Hemiplegia, Ataxia, Upper motor neuron dysfunctio... ORPHA:206443
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Hepatomegaly, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Hy... OMIM:615924
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance OMIM:300660
Episodic Ataxia Type 4
Vertigo, Ataxia, Abnormal head movements ORPHA:79136
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Abnormal circulating calcium concentration, Depression, Dysdiadochokinesis, Abnorma... OMIM:213600
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Lower limb hypertonia, Hypomethioninemia, Osteopo... ORPHA:2169
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Flexion contracture, Babinski sign, Tremor, Spasticity OMIM:611105
Dystonia 12
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional la... OMIM:128235
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Cortical myoclonus, Hypocalcemia, Reduced bone mineral density, Depression, Anxie... ORPHA:428
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, Abnormal audito... OMIM:601455
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Anxiety, Hemiparesis, Tremor OMIM:141500
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Elevated circulating creatine kinase concentration, Fasciculations, Gait distu... ORPHA:276435
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Depression, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Elevated circulating creatine kinase concentration OMIM:615048
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Multiple joint contractures, Loss of ambulation, Bradykinesia, Ankle clon... ORPHA:521406
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Broad-based gait, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior, El... OMIM:619470
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Depression, Myoclonus, Babinski sign, Tremor, Emotional lability, Abnormality of extrapyr... OMIM:615362
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Depression, Myoclonus, Anxiety, Tremor, Writer's cramp OMIM:159900
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Parkinso... ORPHA:3077
Spinocerebellar Ataxia Type 31
Tremor, Hearing impairment, Gait ataxia, Spasticity ORPHA:217012
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Atrial septal defect, Persistence of hemoglobin F, Tetralogy o... OMIM:612561
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Abnormal autonomic nervous system physiology, Extrapy... ORPHA:94093
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia, Irritability OMIM:239350
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Elevated circulating creatine kinase concentration, Trun... OMIM:208920
Cyanide-Induced Parkinsonism-Dystonia
Apathy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Elbow flexio... ORPHA:306692
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... ORPHA:139431
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori... OMIM:125250
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Chorea, Athetosis, Abnormal head movements, Dystonia ORPHA:382
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... OMIM:612526
Epilepsy, Familial Adult Myoclonic, 3
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Myoclonus, Giant somatosensor... OMIM:613608
Pseudohypoparathyroidism Type 1A
Sensorineural hearing impairment, Hypocalcemia, Laryngeal dystonia, Increased bone mineral densit... ORPHA:79443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior, Spasticity OMIM:615493
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, EEG abnormality, Hyperactivity, Hyperprolinemia, Aggressive behavior OMIM:239500
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Tremor, Dystonia, Progressive sensorineural hearing... OMIM:304700
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Spasticity ORPHA:356996
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Intellectual Developmental Disorder, X-Linked 104
Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior, Spa... OMIM:300983
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Dopa-Responsive Dystonia
Agoraphobia, Inability to walk, Abnormality of extrapyramidal motor function, Tremor, Difficulty ... ORPHA:255
Congenital Amegakaryocytic Thrombocytopenia
Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skul... ORPHA:3319
Epilepsy, Familial Adult Myoclonic, 1
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, EEG with irregular generalize... OMIM:601068
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia ORPHA:46532
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Action tremor, EEG abnormality, EEG with polyspike wave complexes, Poor... OMIM:617665
Huntington Disease-Like 1
EEG abnormality, Dysmetria, Jerky head movements, Chorea, Gait disturbance, Gait ataxia, Abnormal... ORPHA:157941
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Hypoalbuminemia, Hypercholesterolemia, Steppage gait OMIM:607250
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Depression, Myoclo... ORPHA:314632
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly, Hypercholesterolemia OMIM:232700
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... OMIM:618849
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Osteoporosis, Hypercholesterolemia OMIM:610947
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Depression,... ORPHA:248111
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Impulsivity, Hyperactivity, Continuous spike and waves during slow... ORPHA:98818
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Rigidity, Hemolytic anemia, Tremor, Dystonia OMIM:615010
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Hyperphenylalaninemia, Dystonia, Irritability OMIM:261630
Spinocerebellar Ataxia Type 37
Sensorineural hearing impairment, Myoclonus, Dysdiadochokinesis, Truncal ataxia, Falls, Limb dysm... ORPHA:363710
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Aggressive behav... OMIM:612716
Malignant Hyperthermia, Susceptibility To, 3
Hypertonia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Cln5 Disease
EEG with focal spikes, Ataxia, Poor gross motor coordination, Clumsiness, EEG with spike-wave com... ORPHA:228360
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, EEG abnormality, Self-injurious behavior, Inability to walk, Hyperactivity, Tre... OMIM:618718
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Spastic dysarthria, Hypoalbuminemia, Hypercholesterolemia, Steppage gait ORPHA:94124
Smith-Magenis Syndrome
Motor stereotypy, Head-banging, EEG abnormality, Hyperactivity, Self-mutilation, Hypertriglycerid... OMIM:182290
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Craniofacial dyston... ORPHA:71517
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Ataxia, Elevated alpha-fetoprotein, Abnormal pyramidal sign, Babinski sign, Head ... ORPHA:64753
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Rickets, Hemolytic anemia, Re... OMIM:611590
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Atypical Rett Syndrome
Loss of ambulation, EEG abnormality, Inability to walk, Inappropriate crying, Hand apraxia, Pill-... ORPHA:3095
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Laryngeal dystonia, Increased bone mineral density, Depression, Ectopic ossificatio... ORPHA:79444
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Sensorineural hearing impairment, Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ank... OMIM:270500
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:616860
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Depression, Dysdiadochok... OMIM:604326
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Spastic Paraparesis And Deafness
Tremor, Hearing impairment, Spastic paraparesis OMIM:312910
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Hepatomegaly, Polycythemia, Abno... OMIM:613280
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Hearing impairment, Increased LDL cholesterol concentration, Hypercholester... OMIM:144300
Behr Syndrome
Hamstring contractures, Ataxia, Dysmetria, Babinski sign, Adductor longus contractures, Optic atr... OMIM:210000
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Impulsivity, Hyperactivity, EEG with focal epileptiform discharges, Depression,... ORPHA:88616
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Secundum atrial septal defect, Osteopenia, Osteoporosis, Tetra... OMIM:612562
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia, Low-set ears, Posteriorly rotated ears, H... OMIM:241410
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Hearing impairment, Abnormality of extrapyramidal motor... OMIM:165300
Glycine Encephalopathy
Impulsivity, Irritability, Hyperactivity, Myoclonus, Hyperglycinemia, Aggressive behavior, Lethargy OMIM:605899
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Beta-Thalassemia
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Reduced bone minera... ORPHA:848
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Hypothyroidism, Congenital, Nongoitrous, 8
Attention deficit hyperactivity disorder, Hypercholesterolemia OMIM:301033
Hypermanganesemia With Dystonia 2
Inability to walk, Babinski sign, Tremor, Spasticity, Limb dystonia, Limb joint contracture, Achi... OMIM:617013
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor OMIM:264070
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, EEG with spike-wave complexes, Myoclonus, Elevated circulating creati... OMIM:614018
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Genetic Recurrent Myoglobinuria
Hypocalcemia, Difficulty walking, Hyperphosphatemia, Fatigable weakness of swallowing muscles, Hi... ORPHA:99845
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Decreased sensory nerve conduction velocity, Flexion contracture, Decreased motor ner... OMIM:609260
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Inabili... ORPHA:90117
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Hyperphenylala... OMIM:261640
Ataxia With Vitamin E Deficiency
Ataxia, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Increased LDL cholesterol concentra... OMIM:277460
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hearing impairment, Hyperphosphatemia OMIM:614207
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Myopathy, Spheroid Body
Broad-based gait, Tremor, Elevated circulating creatine kinase concentration, Waddling gait OMIM:182920
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Depression, Anxiety, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia,... OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Dysmetria, Spastic paraparesis, Depression, Dysdiadochokinesis, Anxiety, Ba... OMIM:615157
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Abnormal pyramidal sign, Optic atrophy, Tremor, Ventricular septal defect, Ventricular se... OMIM:614947
Paget Disease Of Bone 5, Juvenile-Onset
Sensorineural hearing impairment, Increased bone mineral density, Macular scar, Hydroxyprolinemia... OMIM:239000
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Anxiety, Tremor, Dystonia, Cardiomyopathy OMIM:619651
Morgagni-Stewart-Morel Syndrome
Action tremor, Depression, Osteoporosis, Hyperostosis frontalis interna, Suicidal ideation, Hyper... ORPHA:77296
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Rigidity, Hyperkalemia, Hyperphosphatemia OMIM:145600
Calciphylaxis
Ectopic ossification, Hyperphosphatemia, Cellulitis ORPHA:280062
Huntington Disease-Like 2
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Dystonia, Irritability OMIM:606438
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Subcutaneous ossification OMIM:103580
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Apathy, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Depression... ORPHA:240085
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Impulsivity, Recurrent hand flapping, Stereotypical body rocking... ORPHA:100973
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis OMIM:612462
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Hyperactivity, Anxiety, Gait ataxia, Aggressive behavior, Macrotia, Low-set ear... OMIM:609425
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hyperactivity, Hepatomegaly, Hypoproteinemia, Decreased HDL... ORPHA:247585
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, Myoclonus, Falls, Aggressive behavior, EEG with focal sharp slow ... ORPHA:2382
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment, Abnormal cran... OMIM:601596
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... ORPHA:206594
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Progressive cerebellar ataxia, Babinski sign, Akine... ORPHA:282166
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Ataxia, Reduced intraabdominal adipose tissue, Hyperactivity... ORPHA:363400
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
EEG abnormality, Impulsivity, Inability to walk, Hyperactivity, Abnormality of extrapyramidal mot... ORPHA:500180
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:619868
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Gait disturbance, Tremor, Hearing impairment, Abnormal nerve conduction velocity ORPHA:101075
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Increased bone mineral density, Papilledema, Thickened cortex of long bones, Hyperp... OMIM:127000
Aceruloplasminemia
Increased circulating ferritin concentration, Ataxia, Limb ataxia, Chorea, Tremor, Aceruloplasmin... ORPHA:48818
Cog4-Cdg
Ataxia, Limb hypertonia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Irritability ORPHA:263501
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Impulsivity, Hyperactivity, Hemiparesis, Aggressive behavior, Spastic tetraparesis OMIM:604317
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Decreased circulating ferritin concentration, Blepharospasm, Laryngeal dystonia, Bradykin... OMIM:606159
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Developmental And Epileptic Encephalopathy 43
Ataxia, Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Hypsarrhythmia OMIM:617113
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Depression, Intention tremor, Hemiparesis, Tremor, Elevated levels of phytanic acid, Spas... OMIM:614307
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Stepp... OMIM:618387
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Choreoathetosis, Jerky head movements, Paroxysmal dystonia OMIM:245348
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Impulsivity, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait OMIM:619028
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Leukocytosis, S... ORPHA:231222
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Flexion contracture, Macrotia, Babinski sign, Parkinsonism,... OMIM:300055
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Abnormal head movements, Progressive ... ORPHA:247815
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Rigidity, Dystonia OMIM:605909
Shwachman-Diamond Syndrome
Hepatomegaly, Steatorrhea, Osteopenia, Aplastic anemia, Macrocytic anemia, Pancytopenia, Leukemia... ORPHA:811
Gabriele-De Vries Syndrome
Abnormal pinna morphology, Tremor, Waddling gait, Posteriorly rotated ears, Dystonia OMIM:617557
Sanjad-Sakati Syndrome
Hypocalcemia, Patchy osteosclerosis, External ear malformation, Low-set, posteriorly rotated ears... ORPHA:2323
Hypophosphatemic Rickets, Autosomal Recessive, 1
Sensorineural hearing impairment, Hypophosphatemic rickets, Hypophosphatemia, Increased bone mine... OMIM:241520
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Classic Galactosemia
Gait imbalance, Ataxia, Action tremor, Clumsiness, Hepatomegaly, Reduced bone mineral density, De... ORPHA:79239
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancement of the C-reflex OMIM:615127
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Inability to walk, Blepharospasm, Tremor, Writer's cramp, To... OMIM:128100
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... ORPHA:300298
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Orthostatic hypotension, Gait disturbance, Tremor OMIM:616710
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated... OMIM:616828
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait OMIM:615768
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Metacarpal periosteal thickening, Hyperphosphatemia, Hypercalcemia, Calvarial osteosc... OMIM:617994
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Elevated circulating guanidinoacetic acid concentration, Myoclon... OMIM:612736
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Spasticity... ORPHA:99027
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Absent brainstem auditory responses, Sensorineural hearing impairment, I... ORPHA:101085
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Impulsivity, Stereotypical body rocking, Poor coordination, Hyperactivit... OMIM:309548
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Depression, Truncal ataxia, Gait disturbance, Tremor, Difficu... ORPHA:98764
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormal autonomic nervous system physiology, Abnormality of e... OMIM:300894
Rasmussen Subacute Encephalitis
EEG with focal spikes, Inability to walk, Hyperactivity, Irritability, Continuous spike and waves... ORPHA:1929
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, EEG abnormality, Self-injurious behavior, Hyperactivity, Anxiety, Hyperkinetic movements,... OMIM:271980
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Pan... OMIM:619725
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Decreased nerve conduction velocity, Gait disturbance, Tremor, Hearing impairment ORPHA:101078
Aceruloplasminemia
Torticollis, Increased circulating ferritin concentration, Ataxia, Blepharospasm, Aceruloplasmine... OMIM:604290
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Spastic paraparesis, Decreased motor nerve conduction velocity, Gait disturban... ORPHA:101077
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis OMIM:211900
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Sensorineural hearing impairment, Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequ... ORPHA:2590
Spinocerebellar Ataxia Type 18
Dysmetria, Head tremor, Somatic sensory dysfunction, Titubation, Gait ataxia, Hearing impairment ORPHA:98771
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Cataract-Ataxia-Deafness Syndrome
Sensorineural hearing impairment, Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor... ORPHA:1368
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatomegaly, Tetraplegia, Leukocytosis, Anisocytosis, Hepatos... OMIM:618278
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Ataxia, Clumsiness, Hyperlysinemia, Hypervalinemia, Leukocyto... OMIM:615673
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Clumsiness, Impulsivity, Depression, Separat... ORPHA:66624
Clcn4-Related X-Linked Intellectual Disability Syndrome
EEG with focal spikes, Self-injurious behavior, Progressive cerebellar ataxia, Hyperactivity, Ing... ORPHA:485350
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Apathy, Axial dystonia, Autonomic erectile dysfunction, Progressive cerebellar ... ORPHA:227510
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Bone cyst, Hypocalcemia, Abnormal adipose tissue morphology, Osteomalacia, Gait... ORPHA:93160
Glycosylphosphatidylinositol Biosynthesis Defect 15
EEG abnormality, Inability to walk, Dysmetria, Osteopenia, Optic atrophy, Tremor, Gait ataxia, Sp... OMIM:617810
Choreoacanthocytosis
Progressive choreoathetosis, Anxiety, Parkinsonism, Elevated circulating creatine kinase concentr... OMIM:200150
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Hyperkinetic movements, Rigidity, Tremor, Choreoathetosis, Hyperphenylalaninemia... OMIM:233910
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Protruding ear, Optic nerve hypoplasia, Ventricular septal def... ORPHA:261250
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Opisthotonus, Tip-toe gait, Gait disturbance, Optic disc pallor, Generalized d... ORPHA:216866
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Abnormal heart morphology, Neutropenia, Atrial septal defect, ... ORPHA:124
Multiple System Atrophy, Parkinsonian Type
Apathy, Axial dystonia, Autonomic erectile dysfunction, Progressive cerebellar ataxia, Abnormal a... ORPHA:98933
Temple Syndrome
Hypertriglyceridemia, Posteriorly rotated ears, Flexion contracture, Hypercholesterolemia OMIM:616222
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... ORPHA:231214
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Clumsiness, Hypercholesterolemia ORPHA:488650
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... ORPHA:3240
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Papilledema, Hypocalcemic tetany, Hyperphosphatemia, ... ORPHA:93325
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Flexion contracture, Hepatosp... OMIM:609628
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Truncal ataxia, Chor... OMIM:618587
Huntington Disease-Like 3
Broad-based gait, Chorea, Abnormal head movements, Progressive gait ataxia, Dystonia ORPHA:157946
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Abnormal autonomic nervous system physiology, Parkinsonism, Ri... ORPHA:329284
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Acrodysostosis 1 With Or Without Hormone Resistance
Calvarial hyperostosis, Optic atrophy, Neonatal epiphyseal stippling, Hyperphosphatemia, Hearing ... OMIM:101800
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... ORPHA:99750
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Irritability, Rickets,... OMIM:277440
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination OMIM:213200
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Hepatomegaly, Splenomegaly, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Sensorineural hearing impairment, Paraparesis, Dysmetria, Hand tremor, Tip-toe gait, Decreased mo... OMIM:302800
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Prolonged somatosensory evoked potentials, Myoclonus, Writer's cramp, Tremor, Paroxysmal dystonia OMIM:608105
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Frequent falls, Tremor, Dystonia, Cardiomyopathy OMIM:619647
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, EEG with generalized slow activity g... ORPHA:79263
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Fragile X Syndrome
Periventricular heterotopia, Abnormal head movements, Macrotia OMIM:300624
Smith-Magenis Syndrome
Motor stereotypy, Conductive hearing impairment, EEG abnormality, Self-injurious behavior, Anxiet... ORPHA:819
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... ORPHA:454887
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Depression, Anxiety, Parkinsonism, Hyperkinetic movements, Cho... OMIM:619738
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Impulsivity, Limb hypertonia, Myoclonus, Rigidity, Optic atrophy, Tremor, Difficulty walk... ORPHA:442835
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Irritability, Rickets,... OMIM:264700
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Sensorineural hearing impairment, Hypertonia, Abnormal mitral valve morphology, Gait disturbance,... ORPHA:1192
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Anxiety, Rigidity, Falls, Difficulty walking, Emotiona... ORPHA:3198
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Optic atrophy, Tremor, Gait disturbance, Choreo... ORPHA:391417
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Optic atrophy, Tremor, Gait disturbance, Hearing impairment, Abnormal nerve ... ORPHA:99014
Perry Syndrome
Apathy, Akinesia, Bradykinesia, Depression, Anxiety, Parkinsonism, Inappropriate behavior, Rigidi... OMIM:168605
Growth Hormone Insensitivity Syndrome
Hearing impairment, Hypercholesterolemia ORPHA:181393
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Splenomegaly ORPHA:75234
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Anxiety, Myoclonus, Chorea, Choreoathetosis, Involuntary movemen... OMIM:606703
Urocanase Deficiency
Tremor, Ataxia, Aggressive behavior OMIM:276880
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Depression, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia ORPHA:306669
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Postural tremor, Depression... OMIM:300623
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, EEG with generalized epileptiform discharges, EEG with frontal epi... ORPHA:363558
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Hypsarrhythmia OMIM:619970
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Maternal hyperphenylalaninemia, Hyperphenyla... OMIM:261600
Parkinson Disease 14, Autosomal Recessive
Loss of ambulation, Axial dystonia, Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Depres... OMIM:612953
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, EEG abnormality, Flexion contracture, Athetosis, Tremor OMIM:617106
Progressive Supranuclear Palsy-Corticobasal Syndrome
Tremor, Focal dystonia, Jerky head movements, Somatic sensory dysfunction ORPHA:240103
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, EEG abnormality, Bradykinesia, Rigidity, Tremor, Dystonia OMIM:617836
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Sialidosis Type 2
Ataxia, Hepatomegaly, Flexion contracture, Splenomegaly, Inguinal hernia, Osteoporosis, Tremor, U... ORPHA:87876
Hereditary Methemoglobinemia
Methemoglobinemia, Hypertonia, Athetosis, Spasticity, Limb dystonia, Spastic tetraplegia ORPHA:621
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Peroxisome Biogenesis Disorder 5B
Sensorineural hearing impairment, Ataxia, Dysmetria, Tremor, Elevated levels of phytanic acid, Un... OMIM:614867
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Self-mutilation, Depression, Anxiety, Hyperkinetic movements, Gait disturbance,... ORPHA:457240
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Abnormal autonomic nervous system physiology, Oculogyric crisis, Dysdiadochokinesis, Park... OMIM:618049
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hearing impairment, Hyperphosphatemia ORPHA:457059
Galactosemia
Gait imbalance, Ataxia, Action tremor, Hepatomegaly, Reduced bone mineral density, Increased leve... ORPHA:352
Tay-Sachs Disease
Inability to walk, Laryngeal dystonia, Optic atrophy, Tremor, Exaggerated startle response, Dysme... ORPHA:845
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Abnormal circulating histidine concentra... ORPHA:210128
Spinocerebellar Ataxia 42
Ataxia, Depression, Babinski sign, Abnormal pyramidal sign, Tremor, Unsteady gait, Spastic gait, ... OMIM:616795
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Elevated circ... OMIM:210250
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Tremor, Hearing impairment, Unconjugated hyperbilirubinemia ORPHA:79234
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety, Rigidity, Myoclonic... OMIM:184850
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia, Osteomalacia, Iron deficiency anemia, Rickets ORPHA:89937
Neurodegeneration With Brain Iron Accumulation 4
Oromandibular dystonia, Ataxia, Loss of ambulation, Impulsivity, Depression, Babinski sign, Parki... OMIM:614298
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Bradykinesia, Hyperactivity, Inappropriate behavior, EEG with generalize... OMIM:619827
Adult Krabbe Disease
Hemiplegia, Broad-based gait, Ataxia, EEG abnormality, Clumsiness, Hoffmann sign, Babinski sign, ... ORPHA:206448
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, Abnormal em... ORPHA:1942
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Decreased nerve conduction velocity, Depression, Anxiety, Parkinsonism, Frequent... ORPHA:329478
Cerebrotendinous Xanthomatosis
Paraparesis, Ataxia, Abnormality of extrapyramidal motor function, Abnormal atrial septum morphol... ORPHA:909
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Optic atrophy, Tremor, Spasticit... OMIM:164500
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Scarring, Increased blood urea nitrogen, Hepatomegal... ORPHA:90321
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Hypernatremia, Hemolytic anemia, Hy... ORPHA:529808
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia ORPHA:98763
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Hypernatremia, Hemolytic anemia, Hy... ORPHA:529799
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia OMIM:610245
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Hypocalcemia, Irritabi... ORPHA:289157
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Optic disc pallor, Poikilo... OMIM:616959
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... OMIM:617435
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Optic atrophy, Tremor, Choreoathetosis, Spasticity, Hearing impairment, Dystonia OMIM:612438
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Trisomy X
Depression, Tremor, Anxiety, Attention deficit hyperactivity disorder ORPHA:3375
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Hearing impairment, Dy... ORPHA:139485
Porphyria Due To Ala Dehydratase Deficiency
Apathy, Abnormal fear/anxiety-related behavior, Ankle flexion contracture, Depression, Myeloproli... ORPHA:100924
Myopathy, Mitochondrial, And Ataxia
Ataxia, Inability to walk, Limb ataxia, Dysmetria, Depression, Dysdiadochokinesis, Anxiety, Eleva... OMIM:617675
Intellectual Developmental Disorder, Autosomal Recessive 61
EEG abnormality, Hyperactivity, Dysmetria, Babinski sign, Clonus, Aggressive behavior, Hypsarrhyt... OMIM:617773
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Rigidity, Optic atrophy, Tremor, Spasticity ORPHA:33445
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Ataxia, Inappropriate crying, Oculogyric crisis, Dysdiadochokinesis, Parkinsonism, Ab... ORPHA:352649
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Oculogy... OMIM:608643
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Thin bony cortex, Diff... OMIM:600081
Cystinosis
Motor stereotypy, Hypophosphatemia, Hypokalemia, Abnormal pyramidal sign, Gait disturbance, Rickets ORPHA:213
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Lipoatrophy, Increased circulating free fatty acid leve... ORPHA:2457
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Hyperactivity, Atrial septal defect, Joint contracture of the hand,... ORPHA:352490
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Bradykinesia, Poor fine motor coordination, EEG with spike-wave complexes, Anxiety, Tremo... ORPHA:36387
Pelizaeus-Merzbacher Disease
Broad-based gait, Apathy, Ataxia, Inability to walk, Depression, Intention tremor, Abnormal pyram... OMIM:312080
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cardiomyopathy, Increas... OMIM:613313
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... OMIM:613673
Infantile Neuroaxonal Dystrophy
Ataxia, Impulsivity, Hyperactivity, Abnormal autonomic nervous system physiology, Flexion contrac... ORPHA:35069
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Steatorrhea, Hepatosplenomeg... OMIM:278000
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Optic atrophy, Tremor, Difficulty walking, Dystonia ORPHA:330050
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordi... ORPHA:137898
Galactokinase Deficiency
Sensorineural hearing impairment, Hepatomegaly, Hepatosplenomegaly, Increased level of galactitol... ORPHA:79237
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Self-mutilation, Optic atrophy, Tremor, Choreoathetosis, Dystonia, Bilateral sensorineura... OMIM:619422
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity OMIM:600363
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertonia, Decreased circulating ferritin concentration, Action tremor, Bradykinesia, Poor fine ... ORPHA:309854
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy