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 eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... OMIM:605389
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Umbilical hernia, Small for gestational age, Hyperglycemia, Diabetic ketoacido... ORPHA:99886
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity,... ORPHA:71529
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus, Polyuria OMIM:222100
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... ORPHA:210571
Dystonia, Dopa-Responsive
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Witkop Syndrome
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits OMIM:189500
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... ORPHA:293964
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... ORPHA:79085
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Exce... ORPHA:324575
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71526
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... ORPHA:435660
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Glutaric Acidemia Type 3
Failure to thrive, Glutaric aciduria, Lethargy, Ketonuria ORPHA:35706
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Cerebellar Ataxia And Ectodermal Dysplasia
Ataxia, Alopecia, Sparse hair OMIM:212835
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Urinary urgency, Rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:605909
Autosomal Dominant Spastic Paraplegia Type 3
Gait disturbance, Babinski sign, Urinary urgency, Rigidity, Frequent falls, Spastic gait, Lower l... ORPHA:100984
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intenti... ORPHA:98762
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Hypermanganesemia With Dystonia 2
Dystonia, Gait disturbance, Babinski sign, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Hypoglycemia, Failure to thrive, Hyperinsul... OMIM:606528
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy, Opisthotonus, Failure to thrive, Alopecia, Hyperglycinuria, Organic aciduria, Ketonuria OMIM:210210
Hypotrichosis 13
Sparse and thin eyebrow, Sparse hair, Woolly hair OMIM:615896
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Falls, Shuffling gait, Bradykinesia, Resting tremor, Short stepped shuffling gait, Park... ORPHA:306692
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... ORPHA:2722
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Hypotrichosis 7
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair OMIM:604379
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... ORPHA:435651
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Babinski sign, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Babinski sign, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... OMIM:300423
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Glycosuria, Small for gestational age, Ketonuria OMIM:618857
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Exce... ORPHA:276580
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:613643
Hypotrichosis 10
Sparse eyelashes, Sparse eyebrow, Sparse body hair OMIM:614238
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Juvenile Huntington Disease
Dystonia, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Hyperactivity, Progressive cere... ORPHA:248111
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Small for gestational age, Choreoathetosis, Rigidity, Bradykinesia, Tremor, Ataxia, Hyp... OMIM:261640
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... ORPHA:101150
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Failure to thrive, Lethargy, Glycosuria, Ketonuria ORPHA:2089
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Methylmalonic aciduria, Ketonuria OMIM:251120
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism OMIM:618317
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Babinski sign, Rigidity, Bradykinesia, Hypertonia, Generalized dystonia, Parkinsonism, Limb ataxi... OMIM:618824
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Spastic gait, Bradykinesia, Spastic tetraparesis, Abnormal pyramidal sign OMIM:619052
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Polyphagia, Focal pancreatic islet ... ORPHA:276575
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity ORPHA:228169
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... ORPHA:240103
Glutaric Acidemia I
Dystonia, Opisthotonus, Rigidity, Choreoathetosis, Failure to thrive, Glutaric aciduria, Spastic ... OMIM:231670
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Urinary urgency, Falls, Bradykinesia, Spastic tetraplegia, Ataxia, R... OMIM:617225
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... OMIM:617384
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Gait disturbance, Rigidity, Oromandibular dystonia, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair OMIM:614931
Spinocerebellar Ataxia 17
Dystonia, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Intention tremor, Ataxia, Urinary... OMIM:607136
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism OMIM:612953
Short Stature Due To Ghsr Deficiency
Abnormality of body weight, Hypoglycemia, Decreased serum insulin-like growth factor 1, Decreased... ORPHA:314811
Renal Glucosuria
Polydipsia, Polyphagia, Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hawkinsinuria
Fine hair, Failure to thrive, 4-Hydroxyphenylpyruvic aciduria, Sparse hair, 4-hydroxyphenylacetic... ORPHA:2118
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Polyphagia, Excessive insulin response to glucagon test, ... ORPHA:276556
Cerebral Creatine Deficiency Syndrome 3
Failure to thrive, Organic aciduria OMIM:612718
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Rigidity, Bradykinesia, Fasciculations, Ataxia, Spasticity OMIM:183050
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity OMIM:609161
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonism, Gait ataxia, Limb... ORPHA:71517
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria, Abnormal hair morphology OMIM:242550
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Pili torti, Reduced terminal:vellus ratio, Sparse hair OMIM:601553
Leptin Deficiency Or Dysfunction
Polyphagia, Abnormal eating behavior, Hypogonadism, Micropenis, Decreased serum leptin, Obesity OMIM:614962
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinson... OMIM:300894
Dystonia 16
Postural tremor, Gait disturbance, Involuntary movements, Parkinsonism, Bradykinesia, Retrocollis... OMIM:612067
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyur... OMIM:619468
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Gait disturbance, Dystonia, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia ORPHA:329249
Dystonia 12
Dystonia, Torticollis, Bradykinesia, Unsteady gait, Parkinsonism OMIM:128235
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Small nail, Failure to thrive, Large for gestational age, Aminoaciduria, Ketonuria OMIM:614520
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... ORPHA:391411
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Dyskeratosis Congenita, Autosomal Recessive 6
Failure to thrive, Nail dystrophy, Alopecia, Ataxia, Sparse hair OMIM:616353
Richards-Rundle Syndrome
Gait disturbance, Hypertonia, Ataxia, Ketonuria ORPHA:1399
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia ORPHA:369873
Autism, Susceptibility To, 3
Stereotypy, Ketonuria OMIM:608049
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:66628
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia, Lacticaciduria OMIM:619063
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive, Cystinuria, Nephrolithiasis, Neonatal hypoglycemia, Hypergonadotro... OMIM:606407
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Ataxia, Bradykinesia, Lethargy OMIM:618683
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse eyelashes, Abnormal hair morphology, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sp... ORPHA:1808
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Chronic kidney disease, Proteinuria, Hyperechogenic kidneys, Diabetes mellitus... OMIM:613845
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... ORPHA:53351
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Lethargy, Opisthotonus, Ketonuria OMIM:210200
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair ORPHA:505
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:179494
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Woolly Hair, Autosomal Recessive 3
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair OMIM:616760
Trichodysplasia-Xeroderma
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Bradykinesia, Prog... ORPHA:97355
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:240085
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Failure to thrive, Proximal tubulopathy, Diabetes mellitus, Type I diabetes mellitu... OMIM:560000
Saccharopinuria
Saccharopinuria, Citrullinuria, Spastic diplegia, Hyperlysinuria, Histidinuria OMIM:268700
Stimmler Syndrome
Aminoaciduria, Type II diabetes mellitus, Abnormal dental enamel morphology ORPHA:3199
Infantile Dystonia-Parkinsonism
Parkinsonism, Dystonia, Limb hypertonia, Cerebral palsy, Chorea, Bradykinesia, Hypertonia, Abnorm... ORPHA:238455
Lopes-Maciel-Rodan Syndrome
Dystonia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, Abnormal pyr... OMIM:617435
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:619279
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair OMIM:617294
Huntington Disease
Clumsiness, Gait disturbance, Clonus, Involuntary movements, Gait imbalance, Dystonia, Rigidity, ... ORPHA:399
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia OMIM:617836
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... ORPHA:280365
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... ORPHA:3361
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking ORPHA:306669
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Falls, Shuffling gait, Bradykinesia, Short stepped shuffling gait, Parkinsonism ORPHA:412066
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal muscular r... ORPHA:99750
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Clonus, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Abnormality of extr... ORPHA:13
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Abnormal fingernail morphology, Aminoaciduria ORPHA:2278
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Failure to thrive, Renal phosphate wasting, Medullary nephrocalcinosis, Hyperca... OMIM:616963
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Polyphagia, Decreased response to growth hormone stimulation test, Gonadot... OMIM:609734
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dystonia, Lacticaciduria, Neonatal death, Myoclonus, Ataxia, Ketonuria OMIM:619167
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv... ORPHA:181393
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Rigidity, Shuffling gait, Bradykinesia, Apraxia, Spasticity OMIM:221820
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Gait disturbance, Babinski sign, Rigidity, Frequent falls, Hand tremor, Shuffling gait,... ORPHA:289560
Kufor-Rakeb Syndrome
Gait disturbance, Dystonia, Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykinesia, Parapa... OMIM:606693
Leptin Receptor Deficiency
Polyphagia, Pituitary hypothyroidism, Abnormal eating behavior, Diabetes mellitus, Hypergonadotro... OMIM:614963
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis ORPHA:329284
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Hyperphosphaturia, Hepatomegaly, Aminoaciduria, P... OMIM:239200
Hypotonia-Cystinuria Syndrome
Cystinuria, Nephrolithiasis, Polyphagia, Failure to thrive ORPHA:163690
Temple Syndrome
Type II diabetes mellitus, Polyphagia, Small for gestational age, Recurrent hypoglycemia, Obesity... ORPHA:254516
Huntington Disease
Chorea, Gait ataxia, Bradykinesia, Rigidity OMIM:143100
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, Hyperinsulinemic hypoglycemia... ORPHA:97279
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Limb hypertonia, Small for gestational age, Rigidity, Cerebral palsy, Bradykinesia, Tre... ORPHA:70594
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia OMIM:266900
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Aciduria OMIM:617950
Monocarboxylate Transporter 1 Deficiency
Ketonuria OMIM:616095
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Parkinsonism, Dystonia, Babinski sign, Choreoathetosis, Spastic gait, Shuffling gait, Bradykinesi... OMIM:300055
Dibasic Amino Aciduria I
Argininuria, Dibasicaminoaciduria, Hyperlysinuria, Ornithinuria OMIM:222690
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Incoordinat... OMIM:615157
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Urinary in... OMIM:618877
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Frequent falls, Dysmetria, Chorea, Weight lo... ORPHA:157941
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia OMIM:606996
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Babinski sign, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykinesia, Larynge... OMIM:606159
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Failure to thrive, Tremor, Lethargy OMIM:251100
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Small for gestational age, Alopecia, Long eyelashes, Sparse hair, Long eyebrows OMIM:275400
Syndromic X-Linked Intellectual Disability 7
Obesity, Micropenis, Hypoplasia of penis, Sparse body hair ORPHA:85274
Spinocerebellar Ataxia 2
Postural tremor, Urinary bladder sphincter dysfunction, Rigidity, Dysmetria, Myoclonus, Bradykine... OMIM:183090
Pseudoprogeria Syndrome
Failure to thrive, Alopecia, Absent eyebrow, Absent eyelashes, Progressive spastic quadriplegia, ... ORPHA:2985
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Diaminopentanuria
Hyperlysinuria, Ataxia, Cystinuria, Spasticity OMIM:222350
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus at puberty, Red... ORPHA:280356
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Lethargy, Methylmalonic aciduria, Ketonuria OMIM:251110
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Elevated circulating growth hormone conc... ORPHA:90301
Aa Amyloidosis
Hepatomegaly, Adrenal insufficiency, Nephrotic syndrome, Acute kidney injury, Nephropathy, Hypoth... ORPHA:85445
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Proximal tubulopathy, Weight loss, Aminoaciduria, Gait ataxia OMIM:612075
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... ORPHA:363654
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Stereotypy, Hyperactivity, Ataxia, Hyperglycinuria OMIM:239500
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Hypercalciuria, Polyuria OMIM:143880
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Polydipsia, Salt craving, Hypocalciuria, Renal potassiu... OMIM:612780
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, H... OMIM:232700
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Gait disturbance, Sparse hair, Ataxia ORPHA:1174
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Gait disturbance, Clonus, Myoglobinuria, Dystonia, Poor coordination, Spastic tetraplegia, Ataxia... OMIM:616878
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Tremor, Parkinsonism... ORPHA:240071
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Machado-Joseph Disease
Dystonia, Babinski sign, Urinary bladder sphincter dysfunction, Rigidity, Abnormality of extrapyr... OMIM:109150
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Ketonuria OMIM:615751
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly, Abnormal calcium-phosphate regulating hormone level, Abnormality of t... ORPHA:417
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Bardet-Biedl Syndrome 17
Polydipsia, Renal cyst, Stage 5 chronic kidney disease, Hypogonadism, Micropenis, Obesity, Polyuria OMIM:615994
Oculotrichodysplasia
Sparse eyelashes, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, Generalized hypot... OMIM:257960
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... ORPHA:2298
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Involuntary movements, Dystonia, Clonus, Babinski sign, Abnormality of extrapyramidal motor funct... ORPHA:480864
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Failure to thrive, Decreased glomerular filtration rate, Tubulointer... OMIM:602522
Spinocerebellar Ataxia Type 1
Postural tremor, Gait disturbance, Dystonia, Gait imbalance, Dysmetria, Chorea, Bradykinesia, Fas... ORPHA:98755
Cystinuria
Ornithinuria, Cystinuria, Nephrolithiasis, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Leprechaunism
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Long penis, Insulin resistance, Nephr... ORPHA:508
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ethylmalonic aciduria, Dicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, ... OMIM:619355
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:242600
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria ORPHA:42062
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Hyperglycemia, Truncal obesity, Obesity, Renal insufficiency OMIM:615986
Cystinosis, Nephropathic
Renal Fanconi syndrome, Dysphagia, Generalized aminoaciduria, Failure to thrive in infancy, Hepat... OMIM:219800
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Dystonia, Bradykinesia, Spastic tetraparesis OMIM:614924
Urocanase Deficiency
Tremor, Ataxia, Fair hair, Urocanic aciduria OMIM:276880
Angioma Serpiginosum, X-Linked
Fine hair, Nail dystrophy, Sparse hair OMIM:300652
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Decreased glomeru... OMIM:232200
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Failure to thrive, Decreased glomerular filtration rate, Renal insuf... OMIM:613090
Hyperprolinemia, Type Ii
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:239510
Moynahan Syndrome
Cachexia, Alopecia, Sparse hair ORPHA:2574
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Polydipsia, Hyperaldosteronism, Hypercalc... OMIM:613677
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Polyphagia, Abnormal dental enamel morphology, Membranoproliferative glome... ORPHA:251004
Hypomagnesemia 3, Renal
Polydipsia, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hematuria, Renal calcium... OMIM:248250
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Nephrolithiasis, Aspartic aciduria OMIM:222730
Gitelman Syndrome
Chondrocalcinosis, Polydipsia, Failure to thrive, Salt craving, Hypocalciuria, Renal potassium wa... OMIM:263800
Monilethrix
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... ORPHA:573
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Spar... ORPHA:1818
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Beta-Ketothiolase Deficiency
Weight loss, Extrapyramidal dyskinesia, Ataxia, Spasticity, Ketonuria ORPHA:134
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Diabetes insipidus, Polydipsia, Failure to thrive, Megacystis, Polyuria OMIM:304800
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive, Megacystis, Nephrogenic diabetes insipidus, Polyuria OMIM:125800
Monilethrix
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair OMIM:158000
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia, Alaninuria, Diabetes mellitus OMIM:202900
Hypermanganesemia With Dystonia 1
Dystonia, Rigidity, Steppage gait, Abnormality of extrapyramidal motor function, Bradykinesia, Tr... OMIM:613280
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Decreased glomeru... OMIM:232220
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Gerstmann-Straussler Disease
Rigidity, Weight loss, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticity, Park... OMIM:137440
Multiple System Atrophy
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:102
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Hypoglycemia, Histidinuria ORPHA:2158
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Renal tubular dysfunction, Failure to thrive, Weight loss, Glycosuria, Atax... ORPHA:99885
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Dysmetria, Bradykinesia, Impaired tandem gait, Intention tremor, Urinary inconti... OMIM:300623
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... OMIM:610947
Tyrosinemia, Type I
Renal Fanconi syndrome, Hepatomegaly, Hypoglycemia, Nephrocalcinosis, Failure to thrive, Hypertyr... OMIM:276700
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Hypoplasia of p... ORPHA:202
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Babinski sign, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, Bradykines... ORPHA:282166
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Small for gestational age, Increased level of galactitol in urine, Fa... ORPHA:79237
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hepatomegaly, Hypoglycemia, Nephrocalcinosis, Glycosuria, Large for gestationa... OMIM:616026
Hyper-Beta-Alaninemia
Failure to thrive, Increased urinary taurine OMIM:237400
Palmoplantar Keratoderma And Woolly Hair
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... OMIM:616099
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hepatomegaly, Fasting hypoglycemia, Generalized aminoaciduria, Nephrocalcinosi... ORPHA:2088
Autosomal Recessive Spastic Paraplegia Type 77
Dystonia, Paroxysmal dystonia, Babinski sign, Weakness due to upper motor neuron dysfunction, Sci... ORPHA:466722
Richards-Rundle Syndrome
Ataxia, Ketonuria OMIM:245100
Perry Syndrome
Dystonia, Rigidity, Weight loss, Bradykinesia, Tremor, Short stepped shuffling gait, Akinesia, Pa... OMIM:168605
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus, Hydronephrosis, Polyuria, Polydipsia OMIM:304900
Cystinosis
Renal tubular dysfunction, Polydipsia, Failure to thrive, Nephrogenic diabetes insipidus, Type I ... ORPHA:213
3-Methylglutaconic Aciduria Type 1
Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia, Hepatomegaly ORPHA:67046
Filippi Syndrome
Dystonia, Hypertrichosis, Frontal hirsutism, Decreased body weight, Sparse hair OMIM:272440
Autosomal Recessive Progressive External Ophthalmoplegia
Shuffling gait, Cogwheel rigidity, Bradykinesia, Parkinsonism with favorable response to dopamine... ORPHA:254886
Multiple System Atrophy, Cerebellar Type
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:227510
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Sparse hair, Thick eyebrow OMIM:606242
Hair Defect With Photosensitivity And Mental Retardation
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair OMIM:234030
Sporadic Infantile Bilateral Striatal Necrosis
Gait disturbance, Dystonia, Babinski sign, Chorea, Bradykinesia, Urinary incontinence, Resting tr... ORPHA:225147
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Obesity, Polyphagia, Large for gestational age OMIM:248100
Preeclampsia
Small for gestational age, Elevated circulating creatinine concentration, Increased body mass ind... ORPHA:275555
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Weight loss, Spastic hemiparesis, Myoclonus, Ataxia, Spasticity, 3-Methylglutaric acid... ORPHA:20
Neuroferritinopathy
Involuntary movements, Dystonia, Arm dystonia, Leg dystonia, Babinski sign, Writer's cramp, Chore... ORPHA:157846
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Bartter Syndrome, Type 3
Renal salt wasting, Hyperactive renin-angiotensin system, Increased urinary potassium, Hypocalciu... OMIM:607364
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Urinary retention, Weight loss, Recurrent hypoglycemia, Hypoinsulinemia ORPHA:2126
Primary Progressive Freezing Gait
Postural tremor, Babinski sign, Clonus, Gait imbalance, Rigidity, Frequent falls, Shuffling gait,... ORPHA:75567
H Syndrome
Abnormality of the kidney, Lipodystrophy, Hernia, Hypogonadism, Micropenis, Hepatosplenomegaly, D... ORPHA:168569
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy ORPHA:419
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Aredyld
Generalized hypotrichosis OMIM:207780
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyperplasia, Polydip... OMIM:241200
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Decreased glomerular filtration rate, Hematuria, Renal cys... ORPHA:730
Nephronophthisis 1
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:256100
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:98933
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Increased urine a... ORPHA:35878
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Tooth Agenesis, Selective, 8
Sparse hair, Sparse eyebrow OMIM:617073
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
2P21 Microdeletion Syndrome
Hypoglycemia, Failure to thrive, Nephrolithiasis, Cystinuria, Hypogonadism ORPHA:163693
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyperplasia, Chondro... OMIM:601678
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Schopf-Schulz-Passarge Syndrome
Small nail, Apocrine hidrocystoma, Onycholysis, Ridged nail, Thin nail, Narrow nail, Sparse hair,... OMIM:224750
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Polyphagia, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduc... OMIM:608594
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Polyphagia, Large for gestational age OMIM:617119
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creatinine concentra... OMIM:602088
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Long penis, Small for gestational age, Insulin-resistant diab... OMIM:262190
Childhood-Onset Nemaline Myopathy
Clumsiness, Slender build, Bradykinesia, Waddling gait, Difficulty walking ORPHA:171439
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Torticollis, Abnormality of extrapyramidal motor functi... ORPHA:98808
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Lipoatrophy, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Hydronephrosis, Cardiomegaly, Knee flexion contracture, Polyc... OMIM:608836
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hypoglycemia, Lacticaciduria, Aminoaciduria, Renal insufficiency OMIM:619386
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gait disturbance, Urinary urgency, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, R... OMIM:168601
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Dystonia, Babinski sign, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Intenti... ORPHA:171695
Spinocerebellar Ataxia Type 8
Dystonia, Rigidity, Spastic dysarthria, Bradykinesia, Ataxia, Urinary incontinence, Spasticity, U... ORPHA:98760
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Sparse eyelashes, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Abnormality of the kidney OMIM:616901
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Galactosemia Iii
Hepatomegaly, Failure to thrive, Splenomegaly, Aminoaciduria, Galactosuria OMIM:230350
Parkinson Disease 21
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:616361
Manganese Poisoning
Postural tremor, Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Bradyk... ORPHA:306682
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Polyphagia, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduc... OMIM:269700
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Renal steatosis, Ketonuria OMIM:261680
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Spinocerebellar Ataxia Type 13
Clumsiness, Urinary urgency, Torticollis, Myoclonus, Bradykinesia, Urinary incontinence, Titubati... ORPHA:98768
Leber Optic Atrophy And Dystonia
Athetosis, Dystonia, Bradykinesia, Upper motor neuron dysfunction, Spasticity OMIM:500001
Trichohepatoenteric Syndrome 2
Small for gestational age, Failure to thrive, Brittle hair, Trichorrhexis nodosa, Uncombable hair... OMIM:614602
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hypoplasia of penis,... ORPHA:791
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hepatomegaly, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Hereditary Late-Onset Parkinson Disease
Dystonia, Spastic/hyperactive bladder, Rigidity, Frequent falls, Weight loss, Shuffling gait, Bra... ORPHA:411602
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty OMIM:616033
Hypotrichosis 6
Sparse eyelashes, Brittle hair, Pili torti, Sparse and thin eyebrow, Sparse hair OMIM:607903
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes melli... OMIM:604367
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Nephrocalcinosis, Failure to thrive, Tubulointerstiti... ORPHA:79259
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Failure to thrive, Delayed puberty, Proteinuria, Abno... ORPHA:369
Parkinson Disease 8, Autosomal Dominant
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607060
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Methylmalonic aciduria, Failure to thrive, Hemolytic-uremic syndrome, Ataxia, Poor fine... ORPHA:79282
Heyn-Sproul-Jackson Syndrome
Decreased body weight, Sparse hair OMIM:618724
Parkinson Disease, Late-Onset
Dystonia, Urinary urgency, Rigidity, Bradykinesia, Tremor, Resting tremor, Short stepped shufflin... OMIM:168600
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Sparse body hair, Truncal obesity ORPHA:261483
Bazex-Dupré-Christol Syndrome
Sparse and thin eyebrow, Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse or absent eyelashe... ORPHA:113
Argininosuccinic Aciduria
Oroticaciduria, Trichorrhexis nodosa, Ataxia, Aminoaciduria, Abnormal hair quantity ORPHA:23
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypogonadism, D... ORPHA:453533
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Fine hair, Sparse eyelashes, Nail dysplasia, Slow-growing hair, Sparse and thin eyebrow, Sparse hair OMIM:129490
Schaaf-Yang Syndrome
Failure to thrive in infancy, Polyphagia, Arthrogryposis multiplex congenita, Hypogonadism, Micro... OMIM:615547
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Polyphagia,... ORPHA:300373
Dravet Syndrome
Rigidity, Myoclonus, Bradykinesia, Progressive gait ataxia, Cogwheel rigidity, Incoordination, Po... ORPHA:33069
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination ORPHA:36387
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Sparse lateral eyebrow, Absent eyelashes, Distichiasis, Sparse hair ORPHA:79133
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Rigidity, Steppage gait, Bradykinesia, Parkinsonism, Limb ataxia, Gait ataxia OMIM:258450
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Galactose Epimerase Deficiency
Weight loss, Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:79238
Rett Syndrome
Gait disturbance, Dystonia, Failure to thrive, Limb apraxia, Bradykinesia, Stereotypy, Inability ... ORPHA:778
Homocarnosinosis
Spastic paraplegia, Carnosinuria OMIM:236130
Nephronophthisis 4
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:606966
Riboflavin Deficiency
Hypoglycemia, Dicarboxylic aciduria OMIM:615026
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Ridged fingernail, Sparse hair ORPHA:2251
Postencephalitic Parkinsonism
Involuntary movements, Babinski sign, Tremor by anatomical site, Rigidity, Bradykinesia, Cogwheel... ORPHA:97349
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Sparse hair, Small for gestational age OMIM:610756
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Adult-Onset Nemaline Myopathy
Difficulty walking, Bradykinesia ORPHA:171442
Waisman Syndrome
Shuffling gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:311510
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Hypogonadotropic hypogonadism, Polyphagia ORPHA:177910
Nephronophthisis 3
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:604387
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Increased urinary glycerol, Hyper... OMIM:307030
Choroidal Atrophy-Alopecia Syndrome
Fine hair, Ungual fibroma, Abnormal toenail morphology, Sparse or absent eyelashes, Abnormal fing... ORPHA:1433
Focal Facial Dermal Dysplasia 3, Setleis Type
Absent lower eyelashes, Distichiasis, Low anterior hairline, Sparse hair OMIM:227260
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Methylmalonic aciduria, Ataxia, Generalized hirsutism, Aminoaciduria ORPHA:1933
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... ORPHA:363400
Urocanic Aciduria
Urocanic aciduria, Ataxia, Truncal ataxia, Action tremor, Broad-based gait, Gait ataxia ORPHA:210128
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Dystonia, Failure to thrive, Hypertonia, Increased level of methylsuccinic... ORPHA:26792
Rothmund-Thomson Syndrome, Type 1
Thin nail, Nail dystrophy, Absent eyebrow, Absent eyelashes, Sparse hair OMIM:618625
3-Hydroxyisobutyric Aciduria
Failure to thrive, Aminoaciduria OMIM:236795
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Sparse hair OMIM:272980
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsuli... ORPHA:263455
Gand Syndrome
Tics, Hyperactivity, Sparse hair OMIM:615074
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Sparse ha... OMIM:613102
Hypotrichosis 12
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... OMIM:615885
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Insulin resistance, Failure to thrive, Lipodystrophy... ORPHA:528
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Sparse hair OMIM:129810
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Inability to walk, Organic aciduria OMIM:617184
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal glom... ORPHA:567548
Hidrotic Ectodermal Dysplasia, Halal Type
Abnormal fingernail morphology, Absent eyebrow, Absent eyelashes, Abnormal toenail morphology, Na... ORPHA:1809
Senior-Loken Syndrome 3
Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enure... OMIM:606995
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Dystonia, Hirsutism, Dysmetria, Oculomotor apraxia, Inability to walk, Ataxia, Spasticity, Sparse... OMIM:618087
Tiglic Acidemia
Aminoaciduria OMIM:275190
Parkinson Disease 20, Early-Onset
Dystonia, Rigidity, Eyelid apraxia, Shuffling gait, Bradykinesia, Tremor, Parkinsonism OMIM:615530
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Nephronophthisis 11
Renal tubular atrophy, Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chroni... OMIM:613550
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:98754
Graves Disease, Susceptibility To, 1
Weight loss, Goiter, Graves disease, Polyphagia OMIM:275000
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Camptodactyly 1
Camptodactyly of finger, Increased urinary taurine OMIM:114200
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:98793
Progressive Supranuclear Palsy
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Unsteady gait, Blepharospasm ORPHA:683
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:177904
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Babinski sign, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hyperactivity, Hypert... OMIM:610217
Hydroxykynureninuria
Aminoaciduria, Renal tubular dysfunction, Hypertonia OMIM:236800
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Dysmetria, Myoclonus, Ataxia, Aminoaciduria OMIM:250620
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Organic aciduria, Spasticity ORPHA:6
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:177901
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neph... OMIM:617303
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Type II diabetes mellitus, Polyphagia, Failure to thrive, Premature adren... ORPHA:398079
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mitochondrial Dna Depletion Syndrome 18
Clonus, Lacticaciduria, Failure to thrive, Falls, Tongue fasciculations OMIM:618811
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Dystonia, Elevated circulating creatinine concentration, Dysuria, Abnormal... ORPHA:79233
Helix Syndrome
Polydipsia, Nephrolithiasis, Hypocalciuria, Hyperparathyroidism, Polyuria, Renal insufficiency OMIM:617671
Mental Retardation, Autosomal Recessive 5
Small for gestational age, Hypertonia, Thick eyebrow, Spasticity, Sparse hair, Synophrys OMIM:611091
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Alopecia, Sparse eyebrow, Nail dysplasia, Leukonychia, Sparse hair OMIM:104100
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Gait disturbance, Dystonia, Rigidity, Choreoathetosis, Eyelid apraxia, Abnormality ... OMIM:234200
Blue Diaper Syndrome
Nephrocalcinosis, Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating th... ORPHA:94086
Phenylketonuria
Aminoaciduria ORPHA:716
Beckwith-Wiedemann Syndrome
Omphalocele, Hypoglycemia, Congenital megaureter, Neonatal hypoglycemia, Splenomegaly, Nephropath... ORPHA:116
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia ORPHA:3085
3-Methylglutaconic Aciduria Type 4
Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia ORPHA:67048
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Tubulointerstitial nephritis, Abnormality of the anterior p... ORPHA:449395
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Medullary nephrocalcinosis, Polyuria, Hypercalciuria OMIM:300971
Coffin-Siris Syndrome 3
Hypertrichosis, Hirsutism, Long eyelashes, Thick eyebrow, Sparse scalp hair, Sparse hair OMIM:614608
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Congenital onychodystro... ORPHA:2890
Methionine Malabsorption Syndrome
White hair, Aminoaciduria OMIM:250900
Teratoma, Pineal
Polyuria, Polydipsia OMIM:273120
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Splenomegaly ORPHA:664
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Adrenocortical carcinoma, Adrenocortical cytomegaly, Omphalocele, Pancreati... OMIM:130650
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia, Renal steatosis OMIM:261650
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia, Hypoplasia of penis, Nephroblastoma, Inguinal hernia, Femoral hernia ORPHA:2849
Prader-Willi-Like Syndrome
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:398073
Wilson Disease
Hyperphosphaturia, Dysphagia, Renal tubular dysfunction, Hypoparathyroidism, Aminoaciduria, Chond... OMIM:277900
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... OMIM:151660
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair OMIM:211390
Galactosemia I
Hepatomegaly, Aminoaciduria, Increased level of galactitol in urine, Failure to thrive, Albuminur... OMIM:230400
Hyperphosphatemia, Polyuria, And Seizures
Polyuria OMIM:239350
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... OMIM:300555
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Athetosis, Methylmalonic aciduria, Failure to thrive, Chorea, Homocystinuria OMIM:309541
Lessel-Kubisch Syndrome
Renal hypoplasia, Sparse pubic hair, Renal insufficiency, Premature graying of hair OMIM:618681
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Focal segmental glomerulosclerosis, Hypoglycemia, Nephrotic syndrome, Stag... OMIM:617575
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Sparse hair, Broad-based gait, Stereotypy OMIM:301029
Cystathioninuria
Tremor, Cystathioninuria, Nephrolithiasis ORPHA:212
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Donohue Syndrome
Fasting hypoglycemia, Long penis, Hyperglycemia, Adipose tissue loss, Precocious puberty, Pancrea... OMIM:246200
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Hirsutism, Low anterior hairline, Long eyelashes, Ataxia, Thick eyebrow, Sparse hair OMIM:616819
Hydrocephalus-Obesity-Hypogonadism Syndrome
Low posterior hairline, Absent facial hair, Sparse facial hair, Obesity ORPHA:2183
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kidney dysplasia,... OMIM:263200
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Alopecia OMIM:617763
Pediatric-Onset Graves Disease
Hepatomegaly, Increased circulating T4 level, Polydipsia, Goiter, Polyphagia, Puberty and gonadal... ORPHA:525731
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Scorpion Envenomation
Myoclonus, Glycosuria, Tremor, Ataxia, Acute kidney injury, Hyperkinetic movements, Hemifacial sp... ORPHA:466677
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Dibasicaminoaciduria, Lethargy OMIM:238750
Adult-Onset Dystonia-Parkinsonism
Clumsiness, Dystonia, Progressive extrapyramidal movement disorder, Rigidity, Eyelid apraxia, Myo... ORPHA:199351
Holocarboxylase Synthetase Deficiency
Weight loss, Alopecia, Ataxia, Organic aciduria, Lethargy ORPHA:79242
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair OMIM:164680
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Polydipsia, Failure to thrive, Proximal tubulopathy, Elevated circulating... ORPHA:411634
Fragile X-Associated Tremor/Ataxia Syndrome
Gait disturbance, Urinary bladder sphincter dysfunction, Rigidity, Dysmetria, Pollakisuria, Brady... ORPHA:93256
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Diabetes mellitus OMIM:249270
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria, Small nail, Hypoplastic nipples, Sparse hair OMIM:273400
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Hypercholesterolemia, Hypopla... ORPHA:633
Multiple System Atrophy 1, Susceptibility To
Babinski sign, Urinary urgency, Rigidity, Bradykinesia, Tremor, Ataxia, Urinary incontinence, Par... OMIM:146500
Intermediate Generalized Junctional Epidermolysis Bullosa
Anonychia, Nail dystrophy, Scarring alopecia of scalp, Sparse body hair ORPHA:79402
Prader-Willi Syndrome
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Polyphagia, Hypog... OMIM:176270
Kufor-Rakeb Syndrome
Parkinsonism, Gait disturbance, Babinski sign, Lingual dystonia, Rigidity, Eyelid apraxia, Myoclo... ORPHA:306674
Saccharopinuria
Cystinuria, Citrullinuria, Tremor, Spastic diplegia, Hyperlysinuria, Gait ataxia ORPHA:3124
Lymphoid Interstitial Pneumonia
Hepatomegaly, Abnormality of connective tissue, Failure to thrive, Weight loss, Enlarged kidney ORPHA:79128
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Failure to thrive, Slender build, Sparse axillary hair, Sparse facial ... OMIM:608154
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Increased urinary glycerol, Failure to thrive in infancy, Ketonuria ORPHA:247598
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Panniculitis, Generalized ... ORPHA:79086
Cardiofaciocutaneous Syndrome 2
Fine hair, Curly hair, Sparse hair, Absent eyebrow OMIM:615278
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Inguinal hernia, Enlarged kidney OMIM:608022
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insufficiency OMIM:613388
Trichoodontoonychial Dysplasia With Bone Deficiency
Nail dystrophy, Nail dysplasia, Sparse hair, Supernumerary nipple OMIM:275450
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Congenital hypothyroidism, Failure to thrive, Renal salt wasting, Precocious puberty OMIM:614736
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Type II diabetes mellitus, Polyphagia, Failure to thrive, Absence of pube... ORPHA:398069
Argininemia
Hemiplegia/hemiparesis, Diaminoaciduria, Progressive spastic quadriplegia ORPHA:90
Congenital Short Bowel Syndrome
Displacement of the urethral meatus, Sparse hair ORPHA:2301
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Abnormal hair pattern, Sparse lower eyelashes, Dis... ORPHA:1807
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Renal hypoplasia, Kinetic tremor, Small for gestational age, Gait ataxia, Truncal atax... OMIM:616817
6Q16 Microdeletion Syndrome
Obesity, Polyphagia ORPHA:171829
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia,... ORPHA:189439
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Alopecia Antibody Deficiency
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Abnormal eyelash morphology ORPHA:1006
Dermoodontodysplasia
Fingernail dysplasia, Sparse scalp hair, Trichodysplasia, Sparse body hair, Toenail dysplasia ORPHA:1660
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism OMIM:617872
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... OMIM:300009
Progeroid Syndrome, Petty Type
Long eyelashes in irregular rows, Abnormal hair morphology, Failure to thrive, Brittle hair, Thic... ORPHA:2963
5-Oxoprolinase Deficiency
Prolinuria, Increased level of L-pyroglutamic acid in urine, Calcium oxalate nephrolithiasis OMIM:260005
Multiple Carboxylase Deficiency
Alopecia, Organic aciduria, Ataxia, Spastic paraparesis, Lethargy ORPHA:148
Carnosinemia
Carnosinuria OMIM:212200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Dicarb... ORPHA:71212
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Curly hair, Pili torti, Sparse and thin eyebrow, Sparse hair OMIM:602400
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Polyphagia ORPHA:411515
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Dysphagia, Insulin resistance, Failure to thrive, Lipodystrophy, Splenomegaly, Hype... OMIM:613327
Hereditary Mucoepithelial Dysplasia
Fine hair, Hematuria, Alopecia, Sparse hair, Abnormality of the bladder ORPHA:1839
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Sparse body hair ORPHA:1810
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney OMIM:615415
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, In... OMIM:248370
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... OMIM:134600
Hawkinsinuria
Failure to thrive, Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria OMIM:140350
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Athetosis, Dystonia, Methylmalonic aciduria, Failure to thrive, Loss of ability to walk in early ... OMIM:612073
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria OMIM:255100
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Polydipsia, Polyphagia, Hyperglycemia, Premature adrenarche, Hyperlipidem... ORPHA:293987
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria OMIM:618913
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse body hair ORPHA:2850
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Huntington Disease-Like 3
Dystonia, Chorea, Abnormality of extrapyramidal motor function, Extrapyramidal dyskinesia, Extrap... ORPHA:157946
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Hypothermia, Methylmalonic aciduria, Failure to thrive, Lacticaciduria OMIM:245400
Prader-Willi Syndrome
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Failure to thrive, Premature a... ORPHA:739
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Trichothiodystrophy 5, Nonphotosensitive
Tiger tail banding, Brittle hair, Micropenis, Broad-based gait, Slow-growing hair, Sparse hair OMIM:300953
Secondary Short Bowel Syndrome
Central hypothyroidism, Polyphagia, Failure to thrive, Weight loss, Primary hypothyroidism, Steat... ORPHA:95427
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Alopecia universalis, Sparse hair OMIM:614594
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Dystonia, Dicarboxylic aciduria, Methylmalonic aciduria ORPHA:289504
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hepatomegaly, Failure to th... OMIM:220110
Autosomal Dominant Progressive External Ophthalmoplegia
Gait disturbance, Rigidity, Frequent falls, Failure to thrive, Abnormality of extrapyramidal moto... ORPHA:254892
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to thrive, Reduc... OMIM:227810
Alstrom Syndrome
Hepatomegaly, Tubulointerstitial nephritis, Diabetes insipidus, Insulin-resistant diabetes mellit... OMIM:203800
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Methylmalonic aciduria OMIM:614265
Rowley-Rosenberg Syndrome
Right ventricular hypertrophy, Aminoaciduria, Reduced subcutaneous adipose tissue OMIM:268500
Bazex Syndrome
Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma OMIM:301845
Diarrhea 10, Protein-Losing Enteropathy Type
Renal dysplasia, Polyuria, Hypertriglyceridemia, Hypothyroidism OMIM:618183
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hepatomegaly, Failure to th... ORPHA:436271
X-Linked Hypohidrotic Ectodermal Dysplasia