Gene Summary

Name:
solute carrier family 7 (cationic amino acid transporter, y+ system), member 7
Synonyms:
my+lat1

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
embryonic growth retardation Slc7a7em1(IMPC)Bay HOM E18.5 0.00
abnormal embryo size Slc7a7em1(IMPC)Bay HOM E18.5 0.00
abnormal placenta size Slc7a7em1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, complete penetrance Slc7a7em1(IMPC)Bay HOM   Early adult 0.00

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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
Heart  Wholemount images heterozygote 100% (1 of 1)
Kidney  Wholemount images heterozygote 100% (1 of 1)
Testis  Wholemount images heterozygote 100% (1 of 1)
Adrenal gland N/A heterozygote 0.0% (0 of 1)
Aorta N/A heterozygote 0.0% (0 of 1)
Bone N/A heterozygote 0.0% (0 of 1)
Brain N/A heterozygote 0.0% (0 of 1)
Brainstem N/A heterozygote 0.0% (0 of 1)
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 1)
Cerebral cortex N/A heterozygote 0.0% (0 of 1)
Esophagus N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 1)
Hippocampus N/A heterozygote 0.0% (0 of 1)
Hypothalamus N/A heterozygote 0.0% (0 of 1)
Large intestine N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lymph node N/A heterozygote 0.0% (0 of 1)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 1)
Olfactory lobe N/A heterozygote 0.0% (0 of 1)
Oral epithelium N/A heterozygote 0.0% (0 of 1)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Peripheral nervous system N/A heterozygote 0.0% (0 of 1)
Peyer's patch N/A heterozygote 0.0% (0 of 1)
Pituitary gland N/A heterozygote 0.0% (0 of 1)
Prostate gland N/A heterozygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Small intestine N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Stomach N/A heterozygote 0.0% (0 of 1)
Striatum N/A heterozygote 0.0% (0 of 1)
Thymus N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 0.0% (0 of 1)
Trachea N/A heterozygote 0.0% (0 of 1)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 1)
Urinary bladder N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 1)
Vascular system N/A heterozygote 0.0% (0 of 1)
White adipose tissue N/A heterozygote 0.0% (0 of 1)

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 0.0% (0 of 2)
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Outer ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Femur pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forearm N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head mesenchyme N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart ventricle N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Humerus pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Inner ear N/A heterozygote 0.0% (0 of 2)
Intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower leg N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Mesonephros of female N/A heterozygote 0.0% (0 of 2)
Mesonephros of male N/A heterozygote 0.0% (0 of 2)
Metanephros N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nasal septum N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Notochord N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Outflow tract N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
Pharynx N/A heterozygote 0.0% (0 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Rib pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trunk mesenchyme N/A heterozygote 0.0% (0 of 2)
Umbilical artery embryonic part N/A heterozygote 0.0% (0 of 2)
Umbilical vein embryonic part N/A heterozygote 0.0% (0 of 2)
Upper arm N/A heterozygote 0.0% (0 of 2)
Upper leg N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)
Vibrissa N/A heterozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.93% (15 of 382)
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)
atrium 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 508)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 508)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 503)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

Associated Images

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

Eye Morphology

VIP of left fundus

33 Images

X-ray

XRay Images Skull Lateral Orientation

19 Images

X-ray

XRay Images Forepaw

19 Images

Eye Morphology

VIP of right fundus

32 Images

Eye Morphology

VIP of left eye

33 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

X-ray

XRay Images Whole Body Dorso Ventral

19 Images

Eye Morphology

VIP of right eye

33 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Human diseases caused by Slc7a7 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Slc7a7 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Slc7a7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Saccharopinuria
Hypercystinemia, Short stature, Cystinuria, Hyperammonemia, Tremor, Abnormality of circulating en... ORPHA:3124
Galactosemia Iii
Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly, Generalized hypotonia, Hypotoni... OMIM:230350
Saccharopinuria
Short stature, Saccharopinuria, Citrullinuria, Spastic diplegia, Hyperlysinuria, Histidinuria, El... OMIM:268700
Galactose Epimerase Deficiency
Hepatomegaly, Growth delay, Weight loss, Splenomegaly, Hypotonia, Aminoaciduria, Jaundice ORPHA:79238
Gracile Syndrome
Increased serum iron, Intrauterine growth retardation, Increased circulating ferritin concentrati... OMIM:603358
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hypospadias, Hepatomegaly, Short stature, Failure to thrive, Hyperammonemia, Ataxia, Generalized ... OMIM:604273
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hyperammonemia, Spasticity, Abnormal circulating leucine concentrat... ORPHA:6
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Proximal tubulopathy, Weight loss, Generalized hypotonia, Hypotonia,... OMIM:612075
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Stereotypy, Hyperprolinemia, Ataxia, Hyperglycinuria, Generalized ... OMIM:239500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Dystonia, Renal tubular dysfunction, Neutropenia, Growth delay, Choreoathetosis, Ch... ORPHA:289916
Hsd10 Disease
Rigidity, Choreoathetosis, Abnormal urinary acylglycine profile, Myoclonus, Tremor, Ataxia, Postn... ORPHA:391417
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, 3-Methylglutaric aciduria, Myoclonus, Anemia, Glutaric aciduria, Hyperammonemia, Hy... OMIM:246450
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Hyperammonemia, Hypotonia, Aminoaciduria, Episodic ammonia intoxication ORPHA:147
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Short stature, Splenomegaly, Hypotonia, Aminoaciduria ORPHA:417
Episodic Ataxia, Type 1
Babinski sign, Elevated circulating creatine kinase concentration, Spastic gait, Tremor, Slurred ... OMIM:160120
Hyperlysinuria With Hyperammonemia
Growth delay, Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Hyperlysinemia OMIM:238750
Argininemia
Hyperammonemia, Hemiplegia/hemiparesis, Diaminoaciduria, Progressive spastic quadriplegia ORPHA:90
Developmental And Epileptic Encephalopathy 82
Short stature, Spastic tetraplegia, Hyperammonemia, Decreased body weight, Spastic paraparesis, N... OMIM:618721
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Death in infancy, Opisthotonus, Intrauterine growth retardation, Hyperammonemia, Sp... OMIM:610678
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Dystonia, Neutropenia, Choreoathetosis, Failure to thrive, Anemia, Pancreatitis, Sp... ORPHA:79312
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Aminoaciduria, Premature ovarian insufficiency, Severe short stature ORPHA:2278
Hyperphenylalaninemia, Bh4-Deficient, D
Hyperphenylalaninemia, Tremor, Hypertonia, Elevated urinary 7-biopterin level, Transient hyperphe... OMIM:264070
Combined Oxidative Phosphorylation Deficiency 14
Death in infancy, Growth delay, Myoclonus, Anemia, Generalized hypotonia, Hypotonia, Thrombocytop... OMIM:614946
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Failure to thrive, Anemia, Hyperammonemia, Hypotonia, Renal insufficiency ORPHA:28
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Hypotonia, Generalized hypotonia OMIM:213000
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hyperisoleucinemia, Failure to thrive, Increased urine alpha-ketoglutarate concentr... ORPHA:2394
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypospadias, Hepatomegaly, Death in infancy, Intrauterine growth retardation, Growth delay, Hyper... ORPHA:1194
Stimmler Syndrome
Ataxia, Aminoaciduria, Intrauterine growth retardation, Short stature ORPHA:3199
Mitochondrial Dna Depletion Syndrome 17
Chorea, Hyperammonemia, Spastic tetraparesis, Death in childhood, Hemiballismus, Low plasma citru... OMIM:618567
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Dystonia, Choreoathetosis, Elevated circulating creatine kinase concentration, Hyperammonemia, At... OMIM:618416
Glycine Encephalopathy
Death in infancy, Myoclonus, Hyperglycinemia, Hyperglycinuria, Generalized hypotonia, Hypotonia OMIM:605899
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Hypotonia, Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to ... OMIM:251100
Threoninemia
Hyperthreoninemia, Hyperthreoninuria, Growth delay OMIM:273770
Holocarboxylase Synthetase Deficiency
Growth delay, Weight loss, Hyperammonemia, Ataxia, Hypotonia, Thrombocytopenia, Organic aciduria ORPHA:79242
D-Glyceric Aciduria
Opisthotonus, Nonketotic hyperglycinemia, Growth delay, Failure to thrive, Myoclonus, Spastic tet... OMIM:220120
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Methylmalonic acidemia, Tubulointerstitial nephritis, Leukopenia, Methylmalonic aci... OMIM:251000
Valinemia
Failure to thrive, Hypervalinemia, Hyperkinetic movements, Valinuria OMIM:277100
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Death in infancy, Lacticaciduria, Elevated circulating creatine kinase concentra... OMIM:619386
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Dystonia, Failure to thrive, Abnormality of extrapyramidal motor function, Hyperammonemia, Spasti... OMIM:614739
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Clonus, Poor coordination, Failure to thrive, Acute hepatitis, Hyperammonemia, Spas... OMIM:238970
Hartnup Disorder
Hypertonia, Neutral hyperaminoaciduria, Short stature, Episodic ataxia OMIM:234500
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Leukopenia, Choreoathetosis, Anemia, Pancreatitis, Paraparesis, ... ORPHA:27
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Elevated circulating creatine kinase concentration, Cardiomegaly, Dicarbo... ORPHA:42
Mitochondrial Complex I Deficiency, Nuclear Type 33
Generalized hypotonia, Intrauterine growth retardation, Spasticity, Hyperammonemia OMIM:618253
Hyperprolinemia, Type Ii
Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Hyperglycinuria OMIM:239510
Propionic Acidemia
Hepatomegaly, Dystonia, Neutropenia, Limb hypertonia, Short stature, Failure to thrive, Anemia, P... OMIM:606054
Diaminopentanuria
Hyperlysinuria, Ataxia, Cystinuria, Spasticity OMIM:222350
Galactosemia I
Hepatomegaly, Hypergalactosemia, Aminoaciduria, Failure to thrive, Increased level of galactitol ... OMIM:230400
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Short stature, Nephrocalcinosis, Proxi... OMIM:308990
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Athetosis, Methylmalonic acidemia, Short stature, Methylmalonic aciduria, Failure to thrive, Chor... OMIM:309541
Dibasic Amino Aciduria I
Argininuria, Dibasicaminoaciduria, Hyperlysinuria, Ornithinuria OMIM:222690
Citrullinemia Type I
Failure to thrive, Torticollis, Hyperammonemia, Ataxia, Slurred speech, Ankle clonus, Spasticity,... ORPHA:247525
Lysine Malabsorption Syndrome
Hyperlysinuria, Renal tubular lysine transport defect, Growth delay OMIM:247950
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Dysmetria, Myoclonus, Ataxia, Generalized hypotonia, Hypotonia, Aminoaciduria OMIM:250620
Spastic Paraparesis And Deafness
Hypogonadism, Spastic paraparesis, Short stature, Tremor OMIM:312910
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Failure to thrive, Paraplegia, Hyperglutaminemia, Stereotypy, Hyperammonemia, Ataxi... ORPHA:927
Hyperlysinemia
Clumsiness, Opisthotonus, Hypoornithinemia, Poor motor coordination, Short stature, Failure to th... ORPHA:2203
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Intrauterine growth retardation, Small for gestational age, Failure to thrive, Inten... OMIM:614052
Hyper-Beta-Alaninemia
Failure to thrive, Hyperbeta-alaninemia, Increased urinary taurine OMIM:237400
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Aminoaciduria, Splenomegaly ORPHA:664
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Death in infancy, Hepatocellular necrosis, Elevated circulating creatine kinase con... OMIM:201475
Glutathione Synthetase Deficiency
Neutropenia, Intention tremor, Spastic tetraparesis, Ataxia, Hemolytic anemia, Increased level of... OMIM:266130
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Intrauterine growth retardation, Cardiomegaly, Hyperalaninemia, Hyperammonemia, Truncal ataxia, G... OMIM:619051
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Failure to thrive, Cardiomegaly, Hyperammonemia... OMIM:212140
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Opisthotonus, Failure to thrive, Acute hepatic steatosis, Acute hyperammonemia, Generalized hypot... OMIM:210200
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Argininemia
Hepatomegaly, Oroticaciduria, Portal fibrosis, Frequent falls, Hyperargininemia, Spastic gait, Mi... OMIM:207800
Hyperprolinemia Type 1
Hyperprolinemia, Proteinuria, Prolinuria, Nephropathy ORPHA:419
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Clonus, Death in infancy, Intrauterine growth retardation, Small for gestational... OMIM:619055
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Hypotonia, Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to ... OMIM:251110
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Renal tubular acidosis, Cardiom... OMIM:255120
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Hyperam... OMIM:271500
Pyruvate Carboxylase Deficiency
Hypernatremia, Lacticaciduria, Poor eye contact, Hyperammonemia, Abnormal pyramidal sign, Recurre... ORPHA:3008
Hsd10 Disease, Infantile Type
Dystonia, Poor coordination, Choreoathetosis, Abnormal concentration of acylcarnitine in the urin... ORPHA:391428
Propionic Acidemia
Hepatomegaly, Organic aciduria, Hyperammonemia ORPHA:35
Glutamate Formiminotransferase Deficiency
Growth delay, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Aminoaciduria, Positi... OMIM:229100
Dent Disease 2
Short stature, Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tub... OMIM:300555
Sialidosis Type 1
Short stature, Myoclonus, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Tremor,... ORPHA:812
Multiple Carboxylase Deficiency
Organic aciduria, Hyperammonemia, Ataxia, Hypotonia, Spastic paraparesis ORPHA:148
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:242600
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria ORPHA:42062
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, 3-Methylglutaconic aciduria, Short stature, H... OMIM:618120
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Hyperhomocystinemia, Hypomethioninemia, Poor coordination, Failure to thrive, Homocystinuria, Meg... OMIM:250940
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Intrauterine growth retardation, Failure to thrive, Hepatic necrosis, Abnormal cir... ORPHA:71212
Argininosuccinic Aciduria
Oroticaciduria, Short stature, Hyperglutaminemia, Hypoargininemia, Hyperammonemia, Ataxia, Aminoa... ORPHA:23
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Hypotonia, Alpha-aminoadipic aciduria OMIM:204750
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Hyperalaninemia, Hyperammonemia, Elevated circulating sebacic acid con... OMIM:615160
Cystathioninuria
Tremor, Nephrolithiasis, Cystathioninuria, Cystathioninemia ORPHA:212
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau... ORPHA:247598
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
2P21 Microdeletion Syndrome
Growth delay, Failure to thrive, Nephrolithiasis, Cystinuria, Hypogonadism, Hypocalcemia, Hypotonia ORPHA:163693
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Hyperhomocystinemia, Homocystinuria, Incoordination OMIM:236250
Cystinuria
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Glutamine Deficiency, Congenital
Neonatal death, Hyperammonemia, Hypoglutaminemia, Generalized hypotonia, Hypotonia OMIM:610015
Leukoencephalopathy, Brain Calcifications, And Cysts
Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, A... OMIM:614561
Glutamate-Cysteine Ligase Deficiency
Ataxia, Hepatosplenomegaly, Reticulocytosis, Aminoaciduria, Hemolytic anemia, Jaundice ORPHA:33574
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia OMIM:617018
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Athetosis, Dystonia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Elevated ... OMIM:612073
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Opisthotonus, Failure to thrive, Acute hyperammonemia, Hyperglycinuria, Generalized hypotonia, Hy... OMIM:210210
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Methylmalonic aciduria, Short stature, Elevated circulating creatine kinase concentrati... ORPHA:1933
Pyruvate Dehydrogenase E1-Beta Deficiency
Generalized hypotonia, Hyperammonemia OMIM:614111
Infantile Liver Failure Syndrome 3
Hepatomegaly, Short stature, Splenomegaly, Hyperammonemia, Hepatic steatosis, Cholestasis, Death ... OMIM:618641
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Elevated circulating creatine kinase concentration, Hypotonia, Aminoaciduria, Generalized hypotonia OMIM:609560
Combined Oxidative Phosphorylation Deficiency 15
Short stature, Abnormal pyramidal sign, Tremor, Ataxia, Incoordination, Generalized hypotonia, Hy... OMIM:614947
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Lissencephaly, X-Linked, 1
Death in infancy, Ataxia, Micropenis, Postnatal growth retardation, Spasticity, Muscular hypotoni... OMIM:300067
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Argininosuccinic ... OMIM:603471
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Short stature, Stereotypy, Tremor, Ataxia, Generalized hypotonia OMIM:617862
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Growth delay, Ascites, Failure ... OMIM:251880
Citrullinemia Type Ii
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... ORPHA:247585
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Tremor OMIM:300660
Homocarnosinosis
Spastic paraplegia, Carnosinuria OMIM:236130
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Intrauterine growth retardation, Elevated circulating long chain fatty acid concent... OMIM:214110
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Cystinosis
Renal tubular dysfunction, Hypokalemia, Short stature, Failure to thrive, Hypophosphatemia, Stere... ORPHA:213
Hydroxykynureninuria
Hypertonia, Renal tubular dysfunction, Aminoaciduria OMIM:236800
Beta-Ketothiolase Deficiency
Leukocytosis, Hepatomegaly, Thrombocytosis, Weight loss, Extrapyramidal dyskinesia, Hyperammonemi... ORPHA:134
Molybdenum Cofactor Deficiency, Complementation Group C
Hypouricemia, Opisthotonus, Spontaneous abortion, Poor eye contact, Increased urinary taurine, Hy... OMIM:615501
Mantle Cell Lymphoma
Lymphadenopathy, Weight loss, Splenomegaly ORPHA:52416
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Increased level of L-glutamic acid in blood, Hyperammonemia OMIM:237310
Lysinuric Protein Intolerance
Hepatomegaly, Oroticaciduria, Leukopenia, Short stature, Failure to thrive, Anemia, Pancreatitis,... OMIM:222700
Rett Syndrome
Dystonia, Failure to thrive, Limb apraxia, Bradykinesia, Stereotypy, Hyperammonemia, Stereotypica... ORPHA:778
Leber Congenital Amaurosis 1
Hepatomegaly, Growth delay, Hyperthreoninuria, Hyperthreoninemia, Eye poking OMIM:204000
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Generalized aminoaciduria, Renal tubular dysfunction OMIM:606528
Patent Ductus Venosus
Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hepatomegaly, Hypouricemia, Short stature, Nephrocalcinosis, Large for gestati... OMIM:616026
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
3-Hydroxyisobutyric Aciduria
Failure to thrive, Aminoaciduria OMIM:236795
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hyperhomocystinemia, Hypomethioninemia, Failure to thrive, Homocystinuria, Megaloblastic anemia, ... OMIM:236270
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine, Atax... OMIM:271980
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hepatomegaly, Lacticaciduria, Elevated circulating creatine kinase concent... ORPHA:26791
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus, Muscular hypotonia of the ... OMIM:616921
Wolcott-Rallison Syndrome
Hepatomegaly, Hyponatremia, Neutropenia, Growth delay, Ascites, Short stature, Iron deficiency an... ORPHA:1667
Hypotonia-Cystinuria Syndrome
Growth delay, Failure to thrive, Cystinuria, Nephrolithiasis, Hypotonia ORPHA:163690
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Ataxia, Spasticity, Apraxia, Premature ovarian insufficiency OMIM:615889
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Failure to thrive, Hyperglutaminemia, Episodic ammonia intoxication, Hyperammonemia, Ataxia, Epis... OMIM:311250
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Hepatomegaly, Thrombocytosis, Ketonuria, Leukopenia, Lipid accumulation in hepatocy... ORPHA:20
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate concentration ORPHA:35878
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Intrauterine growth retardation, Failure to thrive, Duplicated collecting system,... OMIM:617093
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Severe short stature OMIM:204730
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hepatomegaly, Renal cortical cysts, Generalized aminoaciduria, Proximal tu... OMIM:231680
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Hemiballismus, Muscular hypotonia of the trunk ORPHA:494526
Sarcosinemia
Hypersarcosinuria, Hypersarcosinemia, Ataxia, Infantile muscular hypotonia, Tetraparesis ORPHA:3129
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Myoclonus, Tremor, Generalized hypotonia, Hypotonia OMIM:159900
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Failure to thrive, Anemia, Bone marrow hypocellularity, Large for gestational age, G... OMIM:614520
Huntington Disease-Like 2
Involuntary movements, Dystonia, Chorea, Weight loss, Parkinsonism ORPHA:98934
Mitochondrial Trifunctional Protein Deficiency
Myoglobinuria, Small for gestational age, Failure to thrive, Elevated circulating creatine kinase... OMIM:609015
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Hyperglycinem... ORPHA:470
Spinocerebellar Ataxia, Autosomal Recessive 2
Short stature, Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Generalized hypotonia, Hypo... OMIM:213200
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Hypertonia, Generalized hypotonia, Hypotonia, Thrombocytopenia, Organic aciduria OMIM:253270
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Failure to thrive, Hypoargininemia, Episodic ammonia intoxication, Hyperammonemia, Ataxia, Low pl... OMIM:237300
Glutathionuria
Tremor OMIM:231950
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Intrauterine growth retardation, Growth delay, Methylmalonic aciduria, Lacticac... OMIM:245400
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Clonus, Myoglobinuria, Poor coordination, Elevated circulating creatine kinase concentr... OMIM:616878
Wilson Disease
Hepatomegaly, High nonceruloplasmin-bound serum copper, Dystonia, Renal tubular dysfunction, Hype... OMIM:277900
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Clonus, Oroticaciduria, Poor coordination, Failure to thrive, Spastic gait, Hepatit... ORPHA:415
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Ureteral duplication, Hydro... OMIM:608836
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphosphaturia, Failure to th... OMIM:220110
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hypercalcemia, Calcinosis, Hyperphosphaturia, Aminoaciduria, Failure to thrive, Ane... OMIM:239200
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Short stature, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosur... OMIM:134600
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphosphaturia, Failure to th... ORPHA:436271
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Dicarboxylic aciduria, Elevated creatine kinase after exercise, Hyperammonemia... ORPHA:99901
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Dystonia, Myoclonus, Tremor, Ataxia, Hypertriglyceridemia, Tetraparesis, Spasticity... OMIM:615924
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Tub... ORPHA:228308
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Myoclonus, Hyperphenylalaninemia, Tremor, Hypertonia, Hypotonia OMIM:261630
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidemia, Cystathioninuria, Cy... OMIM:277400
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Ascites, Failure to thrive, Hyperammonemia, Cirrhosis, Conjugated hyperbilirubi... OMIM:617049
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Death in infancy, Neutropenia, Growth delay, Tremor, Hypertonia, Generalized hypotonia,... OMIM:617248
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperhomocystinemia, Hypomethioninemia, Hypotonia, Neutropenia, Methylmalonic acidemia, Intrauter... ORPHA:79282
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Ataxia, Muscular hypotonia of the trunk, Tremor OMIM:618951
Biotinidase Deficiency
Hepatomegaly, Hyperammonemia, Splenomegaly, Ataxia, Generalized hypotonia, Hypotonia, Organic aci... OMIM:253260
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Aciduria, Generalized hypotonia OMIM:617950
Atypical Rett Syndrome
Involuntary movements, Dystonia, Hypotonia, Limb myoclonus, Growth delay, Tongue thrusting, Poor ... ORPHA:3095
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Tiglic Acidemia
Aminoaciduria OMIM:275190
Citrullinemia, Classic
Hepatomegaly, Oroticaciduria, Failure to thrive, Hyperglutaminemia, Hypoargininemia, Hyperammonem... OMIM:215700
Developmental And Epileptic Encephalopathy 97
Tremor, Hypotonia, Stereotypical hand wringing OMIM:619561
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Dicarboxylic aciduria, Hyperamm... OMIM:212138
Dicarboxylic Aminoaciduria
Aminoaciduria, Nephrolithiasis, Aspartic aciduria OMIM:222730
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Rigidity, Small for gestational age, Choreoathetosis, Bradykinesia, Hyperphenylalaninem... OMIM:261640
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Involuntary movements, Babinski sign, Clonus, Dystonia, Elevated circulating creatine kinase conc... ORPHA:480864
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Camptodactyly 1
Increased urinary taurine OMIM:114200
Spinocerebellar Ataxia 48
Babinski sign, Cachexia, Dystonia, Dysmetria, Chorea, Tremor, Ataxia, Urinary incontinence, Parki... OMIM:618093
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Short stature, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hyp... OMIM:613388
Argininosuccinic Aciduria
Hepatomegaly, Oroticaciduria, Hepatic fibrosis, Failure to thrive, Hyperglutaminemia, Hypoarginin... OMIM:207900
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Carnosinemia
Carnosinuria OMIM:212200
Rowley-Rosenberg Syndrome
Right ventricular hypertrophy, Aminoaciduria, Growth delay OMIM:268500
Mulibrey Nanism
Hepatomegaly, Cachexia, Intrauterine growth retardation, Short stature ORPHA:2576
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
5-Oxoprolinase Deficiency
Prolinuria, Increased level of L-pyroglutamic acid in urine, Calcium oxalate nephrolithiasis OMIM:260005
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia OMIM:606762
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia, Xanthinuria, Increased urinary thiosulfate, Myoclonic spasms, Opisthotonus, Growth ... OMIM:252150
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Scissor gait, Oromandibular dystonia, Bradykinesia, Hypermanganesemia, T... ORPHA:521406
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Elevated circulating creatine kinase concentration OMIM:615048
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Immunoneurologic Disorder, X-Linked
Small for gestational age, Neonatal death, Functional abnormality of the bladder, Spastic paraple... OMIM:300076
Leigh Syndrome
Ethylmalonic aciduria, Renal tubular dysfunction, Neutropenia, Lacticaciduria, Complex organic ac... ORPHA:506
Cystathioninuria
Cystathioninuria OMIM:219500
Phenylketonuria
Aminoaciduria ORPHA:716
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hyperhomocystinemia, Hypotonia, Neutropenia, Methylmalonic acidemia, Cystathioninuria, Cystathion... OMIM:277380
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hyperlipidemia, Increased hepatic glycogen content, H... OMIM:232700
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity, Hypergonadotropic hypogonadism OMIM:614307
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Small for gestational age, Renal dysplasia, Elevated circulating... OMIM:616733
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Abnormality of the liver, Tremor, I... ORPHA:79234
Juvenile Huntington Disease
Dystonia, Rigidity, Oral motor hypotonia, Chorea, Weight loss, Myoclonus, Bradykinesia, Progressi... ORPHA:248111
Hypertryptophanemia
Hypertryptophanemia, Tryptophanuria OMIM:600627
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Growth delay, Short stature, Glycosuria, Aminoaciduria, Proteinuria OMIM:615605
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Bence Jones Proteinuria, Anemi... ORPHA:100024
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Urinary urgency, Urinary bladder sphincter dysfunction, Spastic gait, Lowe... OMIM:600363
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Growth delay, Nephrocalcinosis,... OMIM:616084
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, M... OMIM:600649
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Generalized hypotonia, Hypotonia OMIM:616127
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Weight loss, Slender build, Ataxia, Generalized hypotonia, Hypotonia OMIM:613662
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Failure to thrive, Cystinuria, Hypocalcemia, Nephrolithiasis, Gen... OMIM:606407
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Intrauterine growth retardation, Poor eye contact, Hypercholesterolemia, Postnatal growth retarda... ORPHA:254531
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Hypogonadism, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia OMIM:615768
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Short stature, Nephrocalcinosis, Proximal tubulopathy, Hypophos... OMIM:300009
Biliary Malformation With Renal Tubular Insufficiency
Renal tubular dysfunction, Generalized aminoaciduria, Failure to thrive, Glycosuria, Biliary hype... OMIM:210550
Gabriele-De Vries Syndrome
Tremor, Dystonia, Intrauterine growth retardation OMIM:617557
Interstitial Lung And Liver Disease
Hepatomegaly, Thrombocytosis, Hepatic fibrosis, Failure to thrive, Anemia, Hyperammonemia, Cirrho... OMIM:615486
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Renal tubular acidosis, Anemia, Hyperammonem... OMIM:616457
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Ataxia, Proteinuria, Generalized hypotonia, Thrombocytopenia, Aminoaciduria, Macroth... OMIM:603585
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Macular Dystrophy, Retinal, 1, North Carolina Type
Generalized aminoaciduria OMIM:136550
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption ORPHA:2158
Urocanase Deficiency
Tremor, Ataxia, Short stature, Urocanic aciduria OMIM:276880
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Intrauterine growth retardation, Small for gestational ag... ORPHA:231144
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Growth delay, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Spasticity, Transien... OMIM:612716
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Microscopic hematuria, Chronic kidney disease, Hyponatremia, Hypocalcemic tetan... ORPHA:411634
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
Pulmonary Blastoma
Weight loss ORPHA:64741
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Generalized aminoaciduria, Growth delay, Hepatocellular carcinom... ORPHA:2088
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Focal segmental glomerulosclerosis, Nephrotic syndrome, Myoclonus, Intention tre... OMIM:254900
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Growth delay, Methylmalonic aciduria, H... OMIM:614857
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia, Ataxia, Thrombocyt... OMIM:249270
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperammonemia OMIM:615453
Autosomal Dominant Spastic Ataxia Type 1
Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia,... ORPHA:251282
Dent Disease
Tubulointerstitial fibrosis, Hyperuricosuria, Non-acidotic proximal tubulopathy, Renal hypophosph... ORPHA:1652
Hypermanganesemia With Dystonia 2
Babinski sign, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle clonus, Spasticity, ... OMIM:617013
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Rigidity, Frequent falls, Chorea, Oromandibular dystonia, Focal dystoni... ORPHA:216873
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoproteinemia, Small for gestational age, Elevated circulating creatine kinase co... ORPHA:26793
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Growth delay, Hypokalemia, Increased urinary potassium, ... ORPHA:3337
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Short stature, Bradykinesia, Tremor, Ataxia, Generalized hypotonia OMIM:617836
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Chorea, Myoclonus, Hyperglycinemia, Increased circulating free fatty ... ORPHA:941
Spinocerebellar Ataxia 37
Tremor, Ataxia, Frequent falls OMIM:615945
Coenzyme Q10 Deficiency, Primary, 4
Myoclonus, Tremor, Ataxia, Generalized hypotonia, Hypotonia, Abnormal pyramidal sign OMIM:612016
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Frequent falls, Splenomegaly, Tremor, Ataxia, Spasticity, Gait at... OMIM:616719
Encephalopathy Due To Sulfite Oxidase Deficiency
Spastic tetraparesis, Ataxia, Spasticity, Aminoaciduria, Hemiplegia/hemiparesis ORPHA:833
Sialidosis Type 2
Hepatomegaly, Ascites, Short stature, Splenomegaly, Tremor, Ataxia, Nephropathy, Generalized hypo... ORPHA:87876
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Micropenis, Acute pancreatitis, Portal hypertension, Hemolytic anemia, Intrau... OMIM:619487
Migraine, Familial Hemiplegic, 1
Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Canavan Disease
Increased circulating N-Acetylaspartic acid concentration, Elevated urinary N-acetylaspartic acid... OMIM:271900
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Intrauterine growth retardation, Dysmetria, Tremor, Generalized hypotonia, Hyp... OMIM:615578
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Alaninuria, Severe short stature OMIM:202900
Carcinoma Of Esophagus
Lymphadenopathy, Obesity, Weight loss ORPHA:70482
Mitochondrial Complex I Deficiency, Nuclear Type 35
Intrauterine growth retardation, Lacticaciduria, Neonatal death, Elevated urinary 4-hydroxybutyri... OMIM:619003
Dermotrichic Syndrome
Proportionate short stature, Anemia, Aminoaciduria ORPHA:99688
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Carnosinuria OMIM:309930
Distal Renal Tubular Acidosis
Paralysis, Hyperphosphaturia, Growth delay, Short stature, Hypokalemia, Failure to thrive, Nephro... ORPHA:18
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulatin... ORPHA:159
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Elevated circulating creatine kinase concentration, Bradykinesia,... OMIM:612953
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa... OMIM:618913
Glutaric Acidemia I
Hepatomegaly, Dystonia, Opisthotonus, Rigidity, Choreoathetosis, Failure to thrive, Glutaric acid... OMIM:231670
Galactosemia
Postural tremor, Hepatomegaly, Secondary amenorrhea, Hypergalactosemia, Oligomenorrhea, Dystonia,... ORPHA:352
Leukodystrophy, Hypomyelinating, 6
Dystonia, Rigidity, Choreoathetosis, Short stature, Tremor, Ataxia, Spasticity, Muscular hypotoni... OMIM:612438
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Hyperalaninemia, Hyperammonemia OMIM:615751
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Growth delay, Spasticity OMIM:278780
Isolated Succinate-Coq Reductase Deficiency
Babinski sign, Intrauterine growth retardation, Frequent falls, Weight loss, Proportionate short ... ORPHA:3208
Huntington Disease
Clumsiness, Involuntary movements, Clonus, Babinski sign, Dystonia, Rigidity, Abnormal circulatin... ORPHA:399
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Hypomethioninemia, Dystonia, Methylmalonic acidemia, Increased mean corpuscu... OMIM:277410
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Generalized hypotonia, Limb ataxia, G... ORPHA:98763
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Weight loss, Splenomegaly, Ataxia ORPHA:98293
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Idiopathic Achalasia
Weight loss, Decreased prealbumin level ORPHA:930
Congenital Enterovirus Infection
Fetal ascites, Leukocytosis, Neutropenia, Leukopenia, Hepatitis, Anemia, Hyperammonemia, Abnormal... ORPHA:292
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Limb hypertonia, Growth delay, Rigidity, Small for gestational age, Cerebral palsy, Bra... ORPHA:70594
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Parkinsonism OMIM:615528
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia OMIM:615362
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... OMIM:270500
Molybdenum Cofactor Deficiency, Complementation Group B
Hypouricemia, Myoclonic spasms, Opisthotonus, Growth delay, Xanthine nephrolithiasis, Increased u... OMIM:252160
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Tuberculosis
Weight loss ORPHA:3389
Fumarase Deficiency
Polycythemia, Failure to thrive, Hyperbilirubinemia, Cholestasis, Generalized hypotonia, Hypotoni... OMIM:606812
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholangitis, Tubulointerstitial nephritis, Failure to thrive, A... OMIM:124000
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... ORPHA:240103
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Cerebral palsy, Weight loss, Hematuria, Anemia, Neoplasm of the l... ORPHA:69077
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Hyperphosphaturia, Growth delay, Short stature, Hypokalemia, F... ORPHA:47159
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Growth delay, Choreoathetosis, Tremor, Ataxia, Death in childhood, Muscular hypotonia o... OMIM:619422
Neuroectodermal Melanolysosomal Disease
Rigidity, Tremor, Ataxia, Hypertonia, Spasticity, Hypotonia ORPHA:33445
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Gener... OMIM:143880
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Poor eye contact, Spasticity OMIM:300983
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism... ORPHA:314632
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Generalized hypotonia OMIM:619099
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymph node hypoplasia, Neutropenia in presence of anti-neutropil antibodies, Failur... OMIM:613179
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Ataxia, Generalized hypotonia, Tremor OMIM:617917
Huntington Disease-Like 1
Clumsiness, Involuntary movements, Frequent falls, Dysmetria, Chorea, Weight loss, Bradykinesia, ... ORPHA:157941
Myopathy With Extrapyramidal Signs
Clumsiness, Leukocytosis, Clonus, Hepatomegaly, Dystonia, Growth delay, Choreoathetosis, Frequent... OMIM:615673
Cystinosis, Nephropathic
Short stature, Splenomegaly, Microscopic hematuria, Male infertility, Polyuria, Decreased plasma ... OMIM:219800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Growth delay, Hypocalcemic seizures, Failure to thrive, Hypophosphatem... OMIM:264700
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia, Short stature ORPHA:1368
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Weight loss, Splenomegaly ORPHA:86893
Pelizaeus-Merzbacher Disease
Dystonia, Head titubation, Short stature, Choreoathetosis, Failure to thrive, Tremor, Ataxia, Gen... OMIM:312080
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria, Hyperalaninemia, Hyperprolinemia, Muscular hypotonia of the trunk, Neonatal hypot... ORPHA:79246
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Fanconi-Bickel Syndrome
Hypouricemia, Hyperphosphaturia, Renal tubular dysfunction, Generalized aminoaciduria, Hypokalemi... OMIM:227810
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Medium chain dicarboxylic aciduria, Hepatic steatosis, Hyperglycinuria, Generalized... OMIM:201450
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Parkinsonism, Babinski sign, Dystonia, Choreoathetosis, Spastic gait, Facial hypotonia, Bradykine... OMIM:300055
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Small for gestational age, Delayed social development, Glycosuria, Generalized hypoton... OMIM:618857
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ethylmalonic aciduria, Death in infancy, Intrauterine growth retardation, Hyperglutaminemia, Elev... OMIM:619355
Spinocerebellar Ataxia Type 37
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia ORPHA:363710
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Weight loss, Chronic noninfectious lymphadenopathy ORPHA:100083
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Spinocerebellar Ataxia, Autosomal Recessive 13
Short stature, Dysmetria, Tremor, Ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait ataxi... OMIM:614831
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Short stature, Failure to thrive, Splenomegaly, Hypogonadism, Tremor, Ataxia OMIM:201100
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Tubulointerstitial nephritis, Lymphadenopathy, Decreased glomerular filtration rate... ORPHA:85450
Ddost-Cdg
Oromotor apraxia, Short stature, Failure to thrive, Tremor, Hepatic steatosis, Nephrotic range pr... ORPHA:300536
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, Truncal ataxia, Generalized hypotonia, Gait ataxia OMIM:618587
Trisomy X
Secondary amenorrhea, Tremor, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypotonia ORPHA:3375
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Myoclonus, Tremor, Progressive cerebellar ataxia, Hypotonia, Abnormal pyramidal sign ORPHA:139485
Infantile Liver Failure Syndrome 2
Hyperammonemia, Jaundice OMIM:616483
Biotinidase Deficiency
Organic aciduria, Hyperammonemia, Ataxia, Hypotonia, Spastic paraparesis ORPHA:79241
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Nephrotic syndrome, Anemia, Tremor, Hypertonia, Nephropathy, Proteinuria ORPHA:1192
Hartnup Disease
Neutral hyperaminoaciduria, Short stature, Ataxia, Hypotonia, Abnormal urinary color ORPHA:2116
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemic seizures, Short stature, Failure to thrive, Hypophosphate... ORPHA:289157
Riboflavin Transporter Deficiency
Cachexia, Myoclonus, Hypogonadism, Ataxia, Tremor, Hypotonia ORPHA:97229
Dopa-Responsive Dystonia
Dystonia, Arm dystonia, Rigidity, Poor coordination, Muscular hypotonia of the trunk, Abnormality... ORPHA:255
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Weight loss, Vocal cord paralysis, Hematuria, Tremor... ORPHA:94080
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp OMIM:608105
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Infantile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Growth delay, Hypokalemia, ... ORPHA:411629
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Hepatomegaly, Hypotonia, Hydronephrosis, Elevated circulating long chain fatty acid ... OMIM:214100
Aicardi-Goutieres Syndrome 6
Tremor, Dystonia, Hemolytic anemia, Rigidity OMIM:615010
Lopes-Maciel-Rodan Syndrome
Dystonia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Abnormal pyramidal sign, Mu... OMIM:617435
Hyperprolinemia Type 2
Prolinuria, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Hyperglycinemia... ORPHA:79101
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Hypotonia, Spastic tetraparesis, Stereotypy OMIM:619470
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Splenomegaly, Mastocytosis ORPHA:66661
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Short stature, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Spasticity... ORPHA:1170
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Short stature, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ata... ORPHA:397946
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Weight loss, Anemi... OMIM:209950
4H Leukodystrophy
Dystonia, Short stature, Dysmetria, Hypogonadotropic hypogonadism, Abnormality of extrapyramidal ... ORPHA:289494
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Generalized hypotonia, Rigidity, Tremor OMIM:618090
Spinocerebellar Ataxia 7
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... OMIM:164500
Behr Syndrome
Progressive spasticity, Babinski sign, Dysmetria, Tremor, Ataxia OMIM:210000
Moynahan Syndrome
Hypogonadism, Cachexia, Short stature ORPHA:2574
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Elevated circulating creatine kinase concentration, Fasciculations, Tongue fasciculations ORPHA:276435
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Clonus, Growth delay, Ascites, Short stature, Anemia, Stillbirth, Decreased osteocl... OMIM:259720
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Hypotonia, Cachexia ORPHA:1216
Neuroblastoma, Susceptibility To, 1
Elevated urinary vanillylmandelic acid, Failure to thrive, Weight loss, Myoclonus, Anemia, Elevat... OMIM:256700
Congenital Muscular Dystrophy Due To Lmna Mutation
Hypotonia, Cachexia, Death in infancy ORPHA:157973
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Growth delay, Pseudobulbar paralysis, Short stature, Urinary retention, Tremor, Te... OMIM:616586
Corticobasal Syndrome
Involuntary movements, Dystonia, Oromotor apraxia, Limb myoclonus, Limb apraxia, Myoclonus, Brady... ORPHA:454887
Pyruvate Dehydrogenase Deficiency
Dystonia, Intrauterine growth retardation, Growth delay, Choreoathetosis, Cerebral palsy, Tremor,... ORPHA:765
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Short stature, Increased body mass index, Truncal obesity, Tremor, Hyp... OMIM:300957
Spinocerebellar Ataxia 2
Postural tremor, Rigidity, Urinary bladder sphincter dysfunction, Dysmetria, Myoclonus, Bradykine... OMIM:183090
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Dystonia, Tremor, Spastic diplegia, Postnatal growth retardation, Generalized hypotonia, Obesity ORPHA:480907
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Short stature, Hypophosphatemia, Proximal renal tubular acidosis, Stereotypy, O...