Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
branched chain aminotransferase 2, mitochondrial
Synonyms:
Bcat-2,  Eca40

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Bcat2 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 Bcat2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypervalinemia And Hyperleucine-Isoleucinemia
Hoffmann sign OMIM:618850

The table below shows human diseases predicted to be associated to Bcat2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Transient Neonatal Diabetes Mellitus
Abnormality of the urinary system, Maturity-onset diabetes of the young, Failure to thrive, Umbil... ORPHA:99886
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Polyuria, Diabetes mellitus OMIM:222100
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Glutaric Acidemia Type 3
Glutaric aciduria, Lethargy, Ketonuria, Failure to thrive ORPHA:35706
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71526
Methylmalonyl-Coa Epimerase Deficiency
Methylmalonic aciduria, Spasticity, Ketonuria, Failure to thrive OMIM:251120
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Rigidity, Parkinsonism, Bradykinesia, Urinary urgency OMIM:605909
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Athetosis, Ketonuria, Small for gestational age OMIM:618857
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly, Decreased serum l... OMIM:615238
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Alopecia, Ketonuria, Failure to thrive, Cerebral palsy, Organic aciduria, Opisth... OMIM:210210
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Babi... OMIM:128230
Autosomal Dominant Spastic Paraplegia Type 3
Ankle clonus, Rigidity, Babinski sign, Lower limb spasticity, Spastic gait, Bradykinesia, Frequen... ORPHA:100984
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... ORPHA:435651
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Lethargy, Ketonuria, Failure to thrive ORPHA:2089
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Renal tubular dysfu... OMIM:606528
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Limb ataxia, Babinski sign, Lower limb spasticity, Bradykinesia, Urinary urge... OMIM:618418
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Bradykinesia, Gait ataxia, Abnormal pyramidal sign, Tremor by anatomi... ORPHA:101110
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to thrive, Opisthotonus, Letha... OMIM:210200
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Weight loss, Hy... OMIM:143880
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276575
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity, Urinary urgency OMIM:618878
Dystonia 16
Postural tremor, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia ORPHA:210571
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Urinary incontin... OMIM:213600
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... OMIM:617885
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Obesity, Hyperinsulinemia ORPHA:329249
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:620482
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... ORPHA:314811
Mody
Abnormal circulating insulin concentration, Nephropathy, Abnormal oral glucose tolerance, Glycosu... ORPHA:552
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... ORPHA:276556
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair OMIM:601553
Hawkinsinuria
Failure to thrive, Fine hair, 4-Hydroxyphenylpyruvic aciduria, Sparse hair, 4-hydroxyphenylacetic... ORPHA:2118
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Renal Glucosuria
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria OMIM:233100
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Resting tremor, Urinary urgency, Gait ataxia, Babinski sign, Parkinsonism, Ab... OMIM:617225
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Ichthyosis, Split Hairs, And Amino Aciduria
Abnormal hair morphology, Aminoaciduria OMIM:242550
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal ... OMIM:619468
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria, Failure to thrive OMIM:612718
Saccharopinuria
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria... OMIM:268700
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria, Small nail, Failure to thrive, Large for gestational age OMIM:614520
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Chorea, Bradykinesia, Ataxia OMIM:618683
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Bradykinesia, Slurred ... OMIM:300423
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favorable response... ORPHA:314632
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Rigidity ORPHA:228169
Spinocerebellar Ataxia 17
Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Apraxia, Ataxia, ... OMIM:607136
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Huntington Disease-Like 2
Chorea, Action tremor, Rigidity, Weight loss, Bradykinesia OMIM:606438
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia, Lacticaciduria OMIM:619063
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... ORPHA:1808
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Bradykinesia, Abnormal pyramidal sign, Spastic tetraparesis OMIM:619052
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Pill-rolling tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Limb hypertonia... OMIM:615528
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Polyphagia, Micropenis, Decreased serum leptin OMIM:614962
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Rigidity, Babinski sign, Parkinsonism, Hypertonia, Bradykinesia OMIM:618824
Juvenile Huntington Disease
Chorea, Myoclonus, Gait ataxia, Rigidity, Weight loss, Ataxia, Bradykinesia, Progressive cerebell... ORPHA:248111
Parkinsonism With Polyneuropathy
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:619279
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:616710
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Babinski sign, Scissor gait, Parkinsonism, Bradykinesia ORPHA:521406
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Spasticity, Elevated urine acetoacetic acid level, Alpha-aminoadipic aciduria, Gait ataxia, 3-Met... OMIM:620089
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Glutaric Acidemia I
Glutaric aciduria, Ketonuria, Failure to thrive, Rigidity, Opisthotonus, Choreoathetosis, Spastic... OMIM:231670
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Bradykinesia, Resting tremor, Rigidity ORPHA:306692
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Myoclonus, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, ... ORPHA:101150
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, N... OMIM:606407
Dystonia 12
Tremor, Parkinsonism, Torticollis, Bradykinesia OMIM:128235
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Dysmetria, Parkinsonism, Abnormal pyramidal sign, Ataxia, Bradykinesia, Slurred speech OMIM:618317
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Obesity OMIM:620195
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Elevated urinary 3-hydr... OMIM:615751
Hawkinsinuria
Failure to thrive, 4-Hydroxyphenylpyruvic aciduria, Hawkinsinuria, Hypertyrosinemia, Sparse hair,... OMIM:140350
Stimmler Syndrome
Abnormal dental enamel morphology, Type II diabetes mellitus, Aminoaciduria ORPHA:3199
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Proteinuria, Polyuria, Renal s... OMIM:613845
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Proximal tubulopathy, Failure to thrive, Polyuria, Hepatomegaly OMIM:560000
Richards-Rundle Syndrome
Ketonuria, Hypertonia, Ataxia ORPHA:1399
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Tremor, Rigidity, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, B... OMIM:261640
Dibasic Amino Aciduria I
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... OMIM:614963
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Increa... ORPHA:280365
Nephronophthisis 3
Nephronophthisis, Polydipsia, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficie... OMIM:604387
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Gait ataxia, Parkinsonism, Torticollis, Bradykinesia ORPHA:71517
Caribbean Parkinsonism
Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parkinsonism, Apraxia, Weakness due ... ORPHA:97355
Hypotonia-Cystinuria Syndrome
Polyphagia, Cystinuria, Failure to thrive, Nephrolithiasis ORPHA:163690
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Abnormal fingernail morphology, Failure to thrive, Aminoaciduria ORPHA:2278
Methylmalonic Aciduria, Cbla Type
Ketonuria, Failure to thrive, Methylmalonic aciduria, Tremor, Elevated urine 2-methylcitric acid ... OMIM:251100
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hyperca... OMIM:616963
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Huntington Disease
Chorea, Gait ataxia, Bradykinesia, Rigidity OMIM:143100
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Cerebellar Ataxia, Cayman Type
Gait ataxia, Ataxia, Truncal ataxia, Bradykinesia, Intention tremor OMIM:601238
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Spasticity, Ketonuria, Organic aciduria, Increased ... OMIM:246450
Infantile Dystonia-Parkinsonism
Cerebral palsy, Chorea, Parkinsonism, Abnormal pyramidal sign, Limb hypertonia, Hypertonia, Brady... ORPHA:238455
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Torticollis, Bradykinesia OMIM:619862
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Polydipsia, Failure to thrive, Elevated circulating parathyroid hormone level, Hyp... OMIM:239200
Monocarboxylate Transporter 1 Deficiency
Ketonuria OMIM:616095
Spinocerebellar Ataxia 10
Incoordination, Limb fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyr... OMIM:603516
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria OMIM:606996
Spinocerebellar Ataxia 2
Spasticity, Fasciculations, Urinary bladder sphincter dysfunction, Postural tremor, Limb ataxia, ... OMIM:183090
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Failure to thrive, Beta 2-microglobulinuria, Hy... OMIM:227810
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ataxia, Ketonuria, Myoclonus, Neonatal death, Lacticaciduria OMIM:619167
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Tremor, Rigidity OMIM:617836
Oliver-Mcfarlane Syndrome
Alopecia, Long eyelashes, Long eyebrows, Hypoplasia of penis, Sparse hair, Small for gestational age OMIM:275400
Syndromic X-Linked Intellectual Disability 7
Micropenis, Obesity, Hypoplasia of penis, Sparse body hair ORPHA:85274
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair ORPHA:1008
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Tremor, Rigidity, Parkinsonism, Bradykinesia ORPHA:329284
Huntington Disease-Like 1
Involuntary movements, Incoordination, Chorea, Gait ataxia, Simultanapraxia, Dysmetria, Clumsines... ORPHA:157941
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... OMIM:613496
Hypertryptophanemia
Increased serum serotonin, Camptodactyly of finger, Aggressive behavior, Tryptophanuria, Hypersex... OMIM:600627
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity ORPHA:240085
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, 3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia ORPHA:67046
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Tremor, Rigidity, Limb hypertonia, Bradykinesia, Small for gestational age ORPHA:70594
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Failure to thrive, Decreased body weight, Absent eyelashes, Progressive... ORPHA:2985
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Parkinsonism, Tremor, Hemiparesis ORPHA:306669
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Long eyelashes, Ataxia, Micropenis, Sparse hair, Small for gestational age ORPHA:3363
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Bradykinesia, Limb hypertonia, Hypertonia, Parkinsonism OMIM:617384
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Rigidity, Apraxia, Parkinsonism, Bradykinesia OMIM:221820
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Adrenal insufficienc... ORPHA:85445
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... OMIM:615157
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... OMIM:606324
Leber Optic Atrophy And Dystonia
Upper motor neuron dysfunction, Spasticity, Athetosis, Bradykinesia OMIM:500001
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Ketonuria, Renal tubular acidosis, Dicarboxylic aciduria OMIM:255120
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Enlarged polycystic ovaries, Elevated ci... ORPHA:90301
Hypomagnesemia 3, Renal
Chronic kidney disease, Hypomature enamel, Hematuria, Macroscopic hematuria, Polydipsia, Renal ma... OMIM:248250
Cystinosis, Nephropathic
Hematuria, Weight loss, Hepatomegaly, Dysphagia, Aminoaciduria, Generalized aminoaciduria, Male h... OMIM:219800
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... ORPHA:417
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Renal insufficiency, Polyphagia, Truncal obesity OMIM:615986
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Nail dystrophy, Ataxia, Sparse hair OMIM:619692
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Hypoglycemia, Xanthelasma, Decreased glomerular filtration ra... OMIM:232200
Nephronophthisis 9
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts OMIM:613824
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Ketonuria, Dicarboxylic aciduria, 3-hydroxydic... OMIM:619355
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Spastic paraparesis, Spastic tetraplegia, Rigidity OMIM:615643
Autism, Susceptibility To, 3
Ketonuria OMIM:608049
Huntington Disease
Involuntary movements, Decreased body mass index, Chorea, Myoclonus, Rigidity, Babinski sign, Clu... ORPHA:399
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Resting tremor, Obesity, Tremor, Babinski sign, Parkinso... OMIM:300055
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... OMIM:275000
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Adrenal insufficiency, Renal insufficiency, Anorexia, Lacticaciduria OMIM:619386
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Head titubatio... OMIM:618877
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Weight ... OMIM:137440
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movements, Parkinsonism, Abnormal pyram... OMIM:613135
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Failure to thrive, Hypernatriuria, Hyperaldosteronism, Decreased gl... OMIM:602522
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalc... OMIM:613677
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Machado-Joseph Disease
Spasticity, Facial-lingual fasciculations, Fasciculations, Urinary bladder sphincter dysfunction,... OMIM:109150
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Methylmalonic Aciduria, Cblb Type
Methylmalonic aciduria, Lethargy, Ketonuria, Failure to thrive OMIM:251110
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Polydipsia, Enuresis, Hyperaldosteronism, Renal sodium wasting, Salt craving, Poly... OMIM:612780
Moynahan Syndrome
Cachexia, Alopecia, Sparse hair ORPHA:2574
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia, Nephrolithiasis OMIM:222730
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Episodic ataxia, Incoordination, Gait ataxia, Dysmetria, Hemiparesis, Ataxia, Truncal ataxia, Bra... OMIM:601338
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive, Megacystis, Polyuria, Diabetes insipidus OMIM:304800
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism, Parapar... OMIM:606693
Lopes-Maciel-Rodan Syndrome
Spasticity, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Bradykinesia OMIM:617435
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Involuntary movements, Ketonuria, Incoordination, Abnormality of extrapyramidal motor function, B... ORPHA:480864
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas... ORPHA:1818
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Spastic paraparesis, Hand tremor, Rigidity, Babinski sign, Parkinsonism, Urinary inco... ORPHA:289560
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive, Megacystis, Nephrogenic diabetes insipidus, Polyuria OMIM:125800
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ... OMIM:609734
Beta-Ketothiolase Deficiency
Spasticity, Ketonuria, Weight loss, Ataxia, Extrapyramidal dyskinesia ORPHA:134
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Decreased adipose tissue around ... OMIM:606721
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Failure to thrive, Enlarged kidney OMIM:615285
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hypernatriuria, Hyperaldosteronism, Decreased glomerular fil... OMIM:613090
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Gitelman Syndrome
Chondrocalcinosis, Polydipsia, Failure to thrive, Renal magnesium wasting, Hypocalciuria, Enuresi... OMIM:263800
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Proteinuria, Polyphagia, Delayed puberty, Macroscopic... ORPHA:251004
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality of extrapyramidal ... ORPHA:13
Cystinosis
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Polydipsia, Failure to thrive, Renal insuff... ORPHA:213
Dystonia 16
Involuntary movements, Postural tremor, Retrocollis, Parkinsonism, Abnormal pyramidal sign, Brady... OMIM:612067
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Large for gestational age, Inguinal hernia, Nephroblastoma, Enlarged kidney OMIM:618272
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Central hypothyroid... ORPHA:508
Kondoh Syndrome
Sparse hair, Thick eyebrow, Widow's peak OMIM:606242
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebro... ORPHA:202
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Polyuria, Hyperactivity, Self-biting, Renal potassium ... OMIM:618314
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Alaninuria, Hypoglycemia OMIM:615158
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Dicarboxylic aciduria OMIM:605911
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair, Ataxia ORPHA:1174
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Bradykinesia ORPHA:412066
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Gait ataxia, Myoglobinuria, Clonus, Ataxia, Poor coordination, Spastic tetraplegia, Sp... OMIM:616878
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia... ORPHA:282166
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:239500
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Failure to thrive, Renal tubular dysfunction, Abnorm... ORPHA:99885
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmetria, Intention tremor, Parkins... OMIM:300623
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... ORPHA:453533
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Spasticity, Ketonuria, Myoclonus, Spastic hemiparesis, Lethargy, Weigh... ORPHA:20
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu... OMIM:607364
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Spasticity, Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria OMIM:251900
Solitary Fibrous Tumor
Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Weight loss, Hypoinsulinemia ORPHA:2126
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Rigidity, Parkinsonism, Abnormal pyramidal sign, Br... ORPHA:102
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... OMIM:614931
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Ataxia, Bradykinesia, Intenti... OMIM:619725
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ... ORPHA:99750
Aredyld
Generalized hypotrichosis OMIM:207780
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria,... ORPHA:2088
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... OMIM:256100
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Fasting hyperinsulinemia, Reactive hypoglycemi... ORPHA:35878
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketonuria, Failure to thrive OMIM:615453
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Atypical Juvenile Parkinsonism
Involuntary movements, Resting tremor, Myoclonus, Gait ataxia, Rigidity, Abnormal pyramidal sign,... ORPHA:391411
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Bradykinesia OMIM:619911
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Tremor, Ataxia, Bradykinesia, Poor fine motor coordination ORPHA:36387
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Splenomegaly, Nephrolith... OMIM:608594
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Elbow flexion contracture, Elevated circulating creatinine concentration, Renal ins... OMIM:608836
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Hypogonadism, Nephrolithiasis, Cystinuria ORPHA:163693
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Hypotrichosis 9
Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc... OMIM:614237
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Chorea, Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradyki... OMIM:606159
Dravet Syndrome
Incoordination, Cogwheel rigidity, Action tremor, Myoclonus, Rigidity, Progressive gait ataxia, P... ORPHA:33069
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Hypoglycemia, Xanthelasma, Decreased glomerular filtration ra... OMIM:232220
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Chondrocalcinosis, Polydipsia, Failure to thr... OMIM:241200
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Action tremor, Parkinsonism with favorable response to dopaminergic medication... ORPHA:254886
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Gait ataxia, Rigidity, Parkinsonism, Abnormal pyramidal sign, Br... ORPHA:98933
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Chorea,... ORPHA:53351
Hartnup Disorder
Neutral hyperaminoaciduria, Elevated urinary indoleacetic acid level, Hypertonia, Episodic ataxia OMIM:234500
H Syndrome
Hypogonadism, Hepatosplenomegaly, Hernia, Lipodystrophy, Delayed puberty, Micropenis, Abnormality... ORPHA:168569
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Renal juxtaglomerular cell hypertrophy/hyperplasia, Chondrocalcinosis, Hyper... OMIM:601678
Schaaf-Yang Syndrome
Hypogonadism, Failure to thrive in infancy, Obesity, Polyphagia, Skin-picking, Micropenis, Campto... OMIM:615547
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity, Sparse body hair ORPHA:261483
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
14Q11.2 Microduplication Syndrome
Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior ORPHA:261229
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, A... OMIM:620211
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair OMIM:616099
Multiple System Atrophy, Cerebellar Type
Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Rigidity, Parkinsonism, Abnormal pyram... ORPHA:227510
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, ... OMIM:617872
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, Hypoglycemia, Renal ... OMIM:276700
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Galactosemia Iii
Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Hepatomegaly OMIM:230350
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Myoclonus, Clumsiness, Paraparesis, Lower limb spasticity, Ataxia, Bradykinesia, Orom... OMIM:617854
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidn... OMIM:266900
Urocanase Deficiency
Gait ataxia, Action tremor, Dysmetria, Urocanic aciduria, Ataxia, Truncal ataxia OMIM:276880
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair OMIM:129490
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Renal tubular acidos... OMIM:613404
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Hyperinsulinemia, Type II diabetes mellitus, Reduced subcutaneous adipose tissu... OMIM:269700
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Ba... ORPHA:225147
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder... OMIM:620439
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair OMIM:607903
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hypercholesterolemia, Hepa... ORPHA:79237
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Fasciculations, Chorea, Postural tremor, Dysmetria, Bradykinesia, ... ORPHA:98755
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypoglycemia, Large for gestational age, Hyperphosph... OMIM:616026
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Schopf-Schulz-Passarge Syndrome
Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nail, Narrow nail, Nail dystr... OMIM:224750
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig... OMIM:600116
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism... OMIM:613280
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Renal steatosis, Ketonuria OMIM:261680
Waisman Syndrome
Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t... OMIM:311510
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hypoglycemia, Hyperlipidemia, Proteinuria, Delayed puberty, Abnormality of the... ORPHA:369
Argininosuccinic Aciduria
Aminoaciduria, Trichorrhexis nodosa, Oroticaciduria, Abnormal hair quantity, Ataxia ORPHA:23
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98793
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Heyn-Sproul-Jackson Syndrome
Sparse hair, Decreased body weight OMIM:618724
Autosomal Recessive Spastic Paraplegia Type 77
Detrusor sphincter dyssynergia, Progressive spastic paraplegia, Myoclonus, Babinski sign, Scissor... ORPHA:466722
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177904
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Failure to thrive, Hypoglycemia, Xanthelasma, Stage 5 chronic kidney disease, H... ORPHA:79259
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98754
Nephronophthisis 4
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul... OMIM:606966
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177901
Spinocerebellar Ataxia Type 13
Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticollis, Urinary incontinence, Bradykinesia,... ORPHA:98768
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Low anterior hairline, Absent eyelashes, Distichiasis, Sparse hair ORPHA:79133
Childhood-Onset Nemaline Myopathy
Clumsiness, Bradykinesia, Slender build ORPHA:171439
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Slowed slurred speech, Nephrolithiasis OMIM:619827
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Sparse hair ORPHA:2251
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Weight loss, Splenomegaly ORPHA:79238
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Facial paralysis, Failure to ... OMIM:605711
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Failure to thrive, Methylmalonic aciduria, Renal insufficiency, Lethargy, Glomerulopat... ORPHA:79282
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... OMIM:619902
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... ORPHA:113
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Elevated circulating parathyroid hormone level, Nephrolithiasis, Polyuria, Parathyroi... OMIM:617994
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Perry Syndrome
Tremor, Rigidity, Parkinsonism, Weight loss, Bradykinesia OMIM:168605
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Sparse eyebrow, Spasticity, Trichorrhexis nodosa, Ankle clonus, Babinski sign, Head ... OMIM:619691
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Sparse hair OMIM:618625
Hypermanganesemia With Dystonia 2
Spasticity, Tremor, Ankle clonus, Opisthotonus, Babinski sign, Parkinsonism, Clumsiness, Scissor ... OMIM:617013
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Focal Facial Dermal Dysplasia 3, Setleis Type
Distichiasis, Sparse hair, Absent lower eyelashes, Low anterior hairline OMIM:227260
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:300894
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Abnormal temper tantrums, Precocious puberty, Small pituitary gland, Centra... ORPHA:398079
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive OMIM:236795
Hydroxykynureninuria
Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level OMIM:236800
Spinocerebellar Ataxia Type 8
Spasticity, Limb ataxia, Gait ataxia, Rigidity, Ataxia, Urinary incontinence, Bradykinesia, Spast... ORPHA:98760
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria, Generalized hirsutism, Cachexia, Ataxia ORPHA:1933
Senior-Loken Syndrome 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... OMIM:606995
Hidrotic Ectodermal Dysplasia, Halal Type
Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo... ORPHA:1809
Adult-Onset Nemaline Myopathy
Bradykinesia ORPHA:171442
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Parkinsonian-Pyramidal Syndrome
Spasticity, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Neurogenic... ORPHA:171695
Blue Diaper Syndrome
Nephrocalcinosis, Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulating ho... ORPHA:94086
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Failure to thrive, Cachexia, Weight loss OMIM:612075
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Failure to thrive, Myoclonus, Dysmetria, Lethargy, Head titubation, Ataxia, Trunca... OMIM:250620
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, ... OMIM:262190
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Progressive extrapyramidal muscular rigidity, Tremor, Parkinsonism, Abnormal pyram... ORPHA:240071
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ... OMIM:612953
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... OMIM:613550
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Gait ataxia, Rigidity, Babinski sign, Parkinsonism, Truncal ataxia, Bradykinesia, In... OMIM:258450
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit... OMIM:602400
Camptodactyly 1
Increased urinary taurine, Camptodactyly of finger OMIM:114200
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Elevated circulating pa... OMIM:613388
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Spasticity, Organic aciduria ORPHA:6
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Abnormal temper tantrums, Small pituitary gland, Central hypothyroidism, Fail... ORPHA:398069
Postencephalitic Parkinsonism
Involuntary movements, Resting tremor, Cogwheel rigidity, Rigidity, Babinski sign, Abnormal pyram... ORPHA:97349
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Glycosuria, Failure to thrive, Beta 2-microgl... ORPHA:97362
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Primary Progressive Freezing Gait
Postural tremor, Rigidity, Babinski sign, Clonus, Urinary incontinence, Bradykinesia, Frequent falls ORPHA:75567
Tenorio Syndrome
Hypoinsulinemia, Enuresis, Hypoglycemia OMIM:616260
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Sparse hai... OMIM:613102
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol conc... OMIM:201910
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, Babinski si... ORPHA:98808
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Inappropriate laughter, Obesity, Hyperactivity ORPHA:411515
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Spasticity, Hemiplegia/hemiparesis, Ataxia, Spastic tetraparesis ORPHA:833
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Failure to thrive, Clonus, Elevated urinary quinolinic acid level, Lactica... OMIM:618811
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Prader-Willi Syndrome
Self-injurious behavior, Precocious puberty, Class III obesity, Decreased response to growth horm... OMIM:176270
Parkinson Disease, Late-Onset
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia, Urinary urgency OMIM:168600
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair OMIM:104100
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Failure to thrive, Decreased body weight OMIM:620085
Helix Syndrome
Hyperparathyroidism, Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithiasis, Polyuria OMIM:617671
Lipoyltransferase 1 Deficiency
Abnormality of extrapyramidal motor function, Lacticaciduria, Alaninuria, Spastic tetraparesis, H... OMIM:616299
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse scalp hair OMIM:618535
Pediatric-Onset Graves Disease
Polydipsia, Graves disease, Failure to thrive, Goiter, Puberty and gonadal disorders, Splenomegal... ORPHA:525731
Trichohepatoenteric Syndrome 2
Sparse hair, Failure to thrive, Trichorrhexis nodosa, Uncombable hair, Brittle hair, Woolly hair,... OMIM:614602
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Failure to thrive, 3-Methylglutaconic aciduria, Hepatomegaly, La... OMIM:604273
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... ORPHA:2890
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Polyuria, Hypertr... OMIM:618183
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Spasticity, Ketonuria, Failure to thrive, Dysmetria, Hirsutism, Low anteri... OMIM:220111
Manganese Poisoning
Postural tremor, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Hypertonia, Bra... ORPHA:306682
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Hereditary Late-Onset Parkinson Disease
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... ORPHA:411602
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypoglycemia, Hypogonad... OMIM:617575
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly, Hypoglycemia ORPHA:664
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity ORPHA:171829
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Hypoplasia of penis, Paroxy... ORPHA:228402
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic... OMIM:617303
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypercalciuria, Polyuria, Increased circulating renin level OMIM:300971
Beckwith-Wiedemann Syndrome
Nephropathy, Congenital diaphragmatic hernia, Hepatomegaly, Neonatal hypoglycemia, Visceromegaly,... ORPHA:116
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Renal steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Adrenocortical cytomegaly, Renal cortical cysts, Vesico... OMIM:130650
Hydrocephalus-Obesity-Hypogonadism Syndrome
Low posterior hairline, Absent facial hair, Sparse facial hair, Obesity ORPHA:2183
Phenylketonuria
Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in urine, El... OMIM:261600
Joubert Syndrome 10
Polyphagia, Frequent temper tantrums, Obesity, Decreased body weight OMIM:300804
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Riboflavin Deficiency
Hypothermia, Hypoglycemia, Dicarboxylic aciduria OMIM:615026
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... ORPHA:449395
Methionine Malabsorption Syndrome
Aminoaciduria, White hair OMIM:250900
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria, Hypoplastic nipples, Sparse hair, Small nail OMIM:273400
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Methylma... OMIM:614105
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Diabetes mellitus OMIM:249270
Intellectual Developmental Disorder, Autosomal Recessive 5
Spasticity, Thick eyebrow, Hypertonia, Sparse hair, Small for gestational age, Synophrys OMIM:611091
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Urinary incontinence, Bradykinesia, Urinar... OMIM:146500
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Umbilical hernia, ... OMIM:300555
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair ORPHA:79402
Non-Acquired Isolated Growth Hormone Deficiency
Sparse hair, Microphallus, Abdominal obesity ORPHA:631
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Polyuria OMIM:620152
Arima Syndrome
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Pr... OMIM:243910
Holocarboxylase Synthetase Deficiency
Alopecia, Organic aciduria, Lethargy, Weight loss, Ataxia ORPHA:79242
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Myoclonus, Rigidity, Parkinsonism, Bradykinesia, Urinary urgency OMIM:168601
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Inguinal hernia, Enlarged kidney, Cystic... OMIM:608022
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Premature adrenarche, Polydipsia, Central hypothyroidism, Increased circ... ORPHA:293987
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Abnormality of the upper urinary tract, Distichias... ORPHA:1807
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Failure to thrive in infancy, Hypertyrosinemia, Ketonuria, Increased urinary glycerol ORPHA:247598
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Long eyelashes, Thick eyebrow, Hirsutism, Low anterior hairline, Ataxia, Sparse hair OMIM:616819
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Failure to thrive, Nail dystrophy, Ataxia, Sparse hair OMIM:616353
Filippi Syndrome
Frontal hirsutism, Sparse hair, Decreased body weight, Hypertrichosis OMIM:272440
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Spar... OMIM:604536
Hypotrichosis 14
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes OMIM:618275
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Polydipsia,... ORPHA:411634
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Neuroferritinopathy
Blepharospasm, Involuntary movements, Resting tremor, Chorea, Babinski sign, Parkinsonism, Bradyk... ORPHA:157846
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Spasticity, Renal hypoplasia, Fine hair, Gait ataxia, Truncal ataxia, Kinetic tremor, Sparse hair... OMIM:616817
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Cardiofaciocutaneous Syndrome 2
Sparse hair, Absent eyebrow, Fine hair, Curly hair OMIM:615278
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair ORPHA:1006
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Galactosemia I
Aminoaciduria, Galactosuria, Failure to thrive, Hepatomegaly, Increased level of galactitol in ur... OMIM:230400
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Failure to thrive, Slender build, Sparse axillary hair, Sparse facial hair, Small for gestational... OMIM:608154
Urocanic Aciduria
Urocanic aciduria, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Scorpion Envenomation
Acute kidney injury, Ketonuria, Glycosuria, Hemifacial spasm, Myoclonus, Tremor, Hyperkinetic mov... ORPHA:466677
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Hypoglycemia, 2-ethylhydracylic aciduria OMIM:610006
Carnosinemia
Carnosinuria OMIM:212200
Progeroid Syndrome, Petty Type
Failure to thrive, Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Gen... ORPHA:2963
Dermoodontodysplasia
Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Trichodysplasia, Sparse scalp hair ORPHA:1660
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Congenital Short Bowel Syndrome
Sparse hair, Displacement of the urethral meatus ORPHA:2301
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsulinemia, Decreased adipo... OMIM:608612
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine, Prolinuria OMIM:260005
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Polyphagia, Weight loss, Steat... ORPHA:95427
Lymphoid Interstitial Pneumonia
Failure to thrive, Abnormality of connective tissue, Weight loss, Hepatomegaly, Enlarged kidney ORPHA:79128
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level OMIM:229100
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Abnormality of the bladder, Hematuria, Sparse hair ORPHA:1839
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Reduced hair sulfur content, Tiger tail banding, Gait ataxia, Slow-growing hair, ... OMIM:300953
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia ORPHA:2158
Fragile X-Associated Tremor/Ataxia Syndrome
Urinary bladder sphincter dysfunction, Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Ataxia, Br... ORPHA:93256
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Failure to thrive, Reduced renal corticomedullary d... OMIM:208085
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Increased level of gamma-aminobutyric acid in urine, Aggressive behavior... OMIM:271980
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Sparse body hair ORPHA:1810
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Chorea, Gait ataxia, Intention tremor, Dysmetria, Babinski sign, Hypertonia, Bradykin... OMIM:610217
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Methylmalonic aciduria, Failure to thrive, Hypoglycemia, Hypothermia, Lacticaciduria OMIM:245400
Wagro Syndrome
Obesity, Nephroblastoma, Proteinuria, Polyphagia, Aggressive behavior, Compulsive behaviors, Agit... OMIM:612469
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Spasticity, Dysmetria, Hirsutism, Oculomotor apraxia, Limb hypertonia, Ataxia, Sparse hair OMIM:618087
D-Glyceric Aciduria
Aminoaciduria, Failure to thrive, Hypoglycemia, Tongue thrusting, Micropenis OMIM:220120
Jaberi-Elahi Syndrome
Sparse eyebrow, Failure to thrive, Fine hair, Gait ataxia, Dysmetria, Sparse eyelashes, Appendicu... OMIM:617988
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Hand tremor, Gait ataxia, Rigidity, Parkinsonism, Parkinsonism with favorable res... OMIM:157640
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Homocarnosinosis
Carnosinuria OMIM:236130
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Failure to thrive, Nocturia, Cogwheel rigidity, Gait ataxia, Tremor, Rigidity, Ab... ORPHA:254892
Schöpf-Schulz-Passarge Syndrome
Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Alopecia-Intellectual Disability Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair ORPHA:2850
Gand Syndrome
Sparse hair OMIM:615074
Gracile Syndrome
Aminoaciduria OMIM:603358
Hyperlysinemia, Type I
Hyperlysinuria, Cystinuria, Hyperactivity, Ornithinuria, Argininuria, Homocitrullinuria OMIM:238700
X-Linked Hypohidrotic Ectodermal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair ORPHA:181
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... ORPHA:54595
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria, Neonatal death OMIM:617184
Acute Adrenal Insufficiency
Failure to thrive, Androgen insufficiency, Hypoglycemia, Increased circulating ACTH level, Primar... ORPHA:95409
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... ORPHA:436271
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Appendicular spasticity, Sparse hair, Failure to thrive, Cerebral palsy OMIM:620001
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Failure to thrive, Recurrent urinary tract infections, Decreased response to g... OMIM:615873
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Dysphagia, Abnormal urinary acylglycine profile ORPHA:391417
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Amelogenesis imperfe... OMIM:204690
Infantile Nephropathic Cystinosis
Aminoaciduria, Polydipsia, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Abnor... ORPHA:411629
Even-Plus Syndrome
Highly arched eyebrow, Renal hypoplasia, Recurrent urinary tract infections, Vesicoureteral reflu... OMIM:616854
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Clumsiness... ORPHA:199351
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toena... ORPHA:2930
Severe Canavan Disease
Elevated urine N-acetylaspartic acid level, Oral-pharyngeal dysphagia ORPHA:314911
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... OMIM:300942
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Ataxia ORPHA:33574
Auriculocondylar Syndrome 2B
Long penis, Failure to thrive, Opisthotonus, Sparse hair, Synophrys OMIM:620458
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Abnormal hair pattern, Sparse hair