Gene Summary

Name:
transcription factor AP-2 beta
Synonyms:
AP-2(beta),  Tcfap2b,  E130018K07Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal optic disk morphology Tfap2btm1b(EUCOMM)Wtsi HET Early adult 8.46×10-09
preweaning lethality, complete penetrance Tfap2btm1b(EUCOMM)Wtsi HOM   Early adult 0.000238
iris synechia Tfap2btm1b(EUCOMM)Wtsi HET   Early adult 1.41×10-05
increased grip strength Tfap2btm1b(EUCOMM)Wtsi HET Early adult 3.18×10-12

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

34 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Tfap2b 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 Tfap2b by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Tfap2b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Patent Ductus Arteriosus 2
Clinodactyly of the 5th finger, Patent ductus arteriosus OMIM:617035
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial polydactyly type A, Postaxial hand polydactyly OMIM:618498
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Low urinary cyclic AMP respons... OMIM:603233
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Chvostek sign, Hypocalcemi... OMIM:146200
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Abnormal hand morphology, Short 5th metacarpal, Pseudocoarctation of the aorta, Short digit, Clin... ORPHA:228190
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Brachydactyly, Cli... OMIM:604381
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Laryngeal dystonia, Hypocalcem... ORPHA:94090
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613286
Retinitis Pigmentosa 42
Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Cystoid macu... OMIM:612943
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 5th finger, Short 2nd toe, Short thumb, Postaxial hand polydactyly OMIM:176305
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... OMIM:617642
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Congenital malformation of the ... ORPHA:294975
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Intention tremor, Renal sodium wasti... OMIM:612780
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... OMIM:160120
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Disproportionate short-limb short... OMIM:618618
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... ORPHA:94089
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Blue Diaper Syndrome
Nephrocalcinosis, Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:94086
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s... OMIM:612462
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Postnatal growth retardation, Hypocalcemia OMIM:615361
Ectrodactyly-Polydactyly
Split hand, Split foot, Postaxial hand polydactyly OMIM:225290
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Cardiac Lipidosis, Familial
Death in infancy, Cardiomyopathy, Congestive heart failure OMIM:212080
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid... ORPHA:2239
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro... OMIM:600740
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ... OMIM:614817
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypophosphatemia, Hypercal... OMIM:616963
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu... OMIM:607364
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hyperparathyroidism, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Parathyroid... OMIM:145980
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ... OMIM:611263
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Short toe, Short finger, Low u... OMIM:103580
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular... OMIM:145981
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Hyperphenylalaninemia, Bh4-Deficient, D
Elevated urinary 7-biopterin level, Tremor, Hyperphenylalaninemia, Hypertonia, Transient hyperphe... OMIM:264070
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Vitamin D-Dependent Rickets, Type 3
Metaphyseal cupping, Elevated circulating parathyroid hormone level, Flared metaphysis, Hypocalce... OMIM:619073
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:607482
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca... OMIM:618883
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Autoimmune h... ORPHA:36913
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Vascular dilatation, Im... OMIM:600884
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Genu valgum, Hematuria, Macroscopic hematuria, Abnorma... OMIM:248250
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Conotruncal Heart Malformations
Broad hallux, Truncus arteriosus, Postaxial polydactyly, Coarctation of aorta, Transposition of t... OMIM:217095
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Decreased response to growth hormone stimulation test, Postnatal growth ret... OMIM:614732
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia, Nephrolithiasis, Cystinuria, Growth delay ORPHA:163693
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Decreased circulating parathyroid hormone level, Increased circulating beta-C-terminal telopeptid... ORPHA:157215
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Growth delay, Hypomagnesemia, Nocturia, Hypokal... OMIM:263800
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Rigidity, Elevated circulating creatine kinase concentration, Myoglobinuria, H... OMIM:145600
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Helix Syndrome
Hypermagnesemia, Hyperparathyroidism, Hypocalciuria, Dry skin, Renal insufficiency, Nephrolithias... OMIM:617671
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... OMIM:203330
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Fibular bowing,... OMIM:300009
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal insufficiency, Hyperphosp... ORPHA:99879
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Proximal muscle weakness in upper limbs, Exerci... ORPHA:99845
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Nephrocalcinosis, Medullary nephrocalcinosis, Ne... OMIM:143880
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Genu varum,... ORPHA:1952
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Delayed ... OMIM:300554
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H... OMIM:179800
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Valinemia
Hyperkinetic movements, Hypervalinemia, Valinuria OMIM:277100
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Small hand, Hyperphosphatemia, Decreased response to growth hormone stimulation test, Postnatal g... OMIM:241410
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho... ORPHA:405
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly OMIM:615984
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Elevated circulating pa... OMIM:613388
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Dry skin, Hypocalcemia, Hypercalciuria, Hype... ORPHA:428
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Hyposerinemia, Intrauterine growth retardation, Hypertonia OMIM:614023
Megabladder, Congenital
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis... OMIM:618719
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Calcinosis, Short metac... ORPHA:79444
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Psoriasiform lesion,... ORPHA:284426
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly ORPHA:2091
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Calcium nephrolithiasis, Decreased circulating parathyroid hormone level... OMIM:241530
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Calciphylaxis
Skin ulcer, Stage 5 chronic kidney disease, Hyperphosphatemia, Secondary hyperparathyroidism ORPHA:280062
Granulomatous Slack Skin
Erythema, Acute kidney injury, Nephrocalcinosis, Redundant skin, Cutis laxa, Hypercalcemia ORPHA:33111
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy, Iris cyst OMIM:620086
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... OMIM:605362
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Neonatal death, Bowing of the long bones, Death in adolescence, Pulmona... OMIM:619751
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Hammertoe, Tremor, Elevated circulating creatine kinase concentration OMIM:615048
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Optic Atrophy 2
Optic atrophy OMIM:311050
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Metacarpal periosteal thickeni... OMIM:617994
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Bilateral lung agenesis, Patent ductus arteriosus, Neonatal death OMIM:601612
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Long hallux, Decreased growth hormone responses to growth hormone-releasing ho... OMIM:101800
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Autosomal Recessive Kenny-Caffey Syndrome
Small hand, Hypocalcemic tetany, Intrauterine growth retardation, Postnatal growth retardation, H... ORPHA:93324
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Juvenile Nephropathic Cystinosis
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, A... ORPHA:411634
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... OMIM:615605
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Chronic kidney disease, Nephropathy, Elevated circulating cre... OMIM:617056
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly ORPHA:2935
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Mesoaxial Hexadactyly And Cardiac Malformation
Hand polydactyly, Abnormal 3rd finger morphology, Patent ductus arteriosus OMIM:249670
X-Linked Hypophosphatemia
Renal phosphate wasting, Shortening of the talar neck, Flattening of the talar dome, Disproportio... ORPHA:89936
Bardet-Biedl Syndrome 16
Renal agenesis, Hypogonadism, Stage 5 chronic kidney disease, Renal insufficiency, Polydactyly, R... OMIM:615993
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Increased cup-to-disc ratio, Megalocornea OMIM:617272
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Calcinosis, Short metac... ORPHA:79443
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hydroxyprolinuria, Hyperuricemia, Lateral femoral bowing, Bowing of the long b... OMIM:239000
Dent Disease
Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossif... ORPHA:1652
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal upper limb muscle weakness, Distal upper limb amyotrophy, Weak grip, Weakness of the intri... OMIM:619519
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V... OMIM:143200
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati... ORPHA:309169
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria, Hypercalcemia OMIM:239199
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Reduced systolic function, Co... OMIM:604765
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Pos... OMIM:604229
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Saccharopinuria
Hyperlysinuria, Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyperlysinemia, Abnormal ci... ORPHA:3124
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Familial Isolated Hypoparathyroidism
Nephropathy, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypocalcemi... ORPHA:2238
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... OMIM:617927
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia, Hyponatremia, Prot... OMIM:613845
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:611880
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Short palm, Syndactyly ORPHA:79094
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate,... OMIM:242530
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... ORPHA:1113
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Short distal phalanx of finger, Renal insufficiency, Hypocalcemia, Hypoparathyroidis... ORPHA:1563
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... OMIM:615373
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Shortening of the talar neck, Abnormal pelvic girdle bone morphology, El... OMIM:307800
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Decreased response to growth hormone stimulation test, Postnatal growth ret... OMIM:606407
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Syncope, Pulmonary arterial hypertension, Incre... OMIM:615396
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hypercalciuria OMIM:612286
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of left coronary artery fro... OMIM:618845
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Hypertonia, Elevated circulating creatine kinase concentration OMIM:154276
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Generalized aminoaciduria, Metaphyseal irregularity, Subperioste... OMIM:264700
Carvajal Syndrome
Patchy palmoplantar hyperkeratosis, Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Metaphyseal Chondrodysplasia, Jansen Type
Severe short stature, Nephrocalcinosis, Metaphyseal cupping, Hyperphosphaturia, Hip contracture, ... OMIM:156400
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia, Growth delay, Bowing of the legs ORPHA:89937
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism, Hypocalc... ORPHA:73224
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria, Growth delay OMIM:602722
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Sanjad-Sakati Syndrome
Small hand, Hyperphosphatemia, Postnatal growth retardation, Hypocalcemia, Hypoparathyroidism, Co... ORPHA:2323
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Left Ventricular Noncompaction 1
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... OMIM:604169
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Dry skin, Stage 5 chronic kidney... ORPHA:94059
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Paternal Uniparental Disomy Of Chromosome 1
Myoclonus, Proteinuria, Delayed puberty, Increased blood urea nitrogen, Macroscopic hematuria, Me... ORPHA:251004
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Short iliac bones, Elevated circulating creatinine concentration, A... OMIM:614376
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Hyperd... OMIM:613255
Cystathioninuria
Cystathioninemia, Cystathioninuria, Tremor, Nephrolithiasis, Talipes equinovarus ORPHA:212
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Sandal gap, Short tibia, Short thumb, Radial club hand, Bilateral single transv... ORPHA:1972
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Zimmermann-Laband Syndrome 3
Short distal phalanx of finger, Aplasia of the distal phalanx of the 5th toe, Clinodactyly, Long ... OMIM:618658
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty... ORPHA:65759
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Car... OMIM:613642
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excre... OMIM:211900
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Coarse metaphyseal trabecularization, Abnormal hip bone morphology, Genu val... ORPHA:93160
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Optic pit, Chorioretinal coloboma OMIM:616428
Bardet-Biedl Syndrome 19
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Postaxial polydactyly, Y-shaped metacarpa... OMIM:615996
Hypophosphatasia, Infantile
Nephrocalcinosis, Metaphyseal cupping, Disproportionate short-limb short stature, Phosphoethanola... OMIM:241500
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Recurrent urin... OMIM:248190
Neuroleptic Malignant Syndrome
Acute kidney injury, Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Extrapyramidal muscula... ORPHA:94093
Oculoskeletodental Syndrome
Short 5th finger, Nephrocalcinosis, Clinodactyly, Hypoplasia of the capital femoral epiphysis, Hy... ORPHA:557003
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Renal Tubular Acidosis, Proximal
Short stature, Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubu... OMIM:179830
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Paraparesis... OMIM:612736
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Erythema, Palmoplantar blistering, Decreased movement range in interphalangeal joints, Dry skin, ... ORPHA:530838
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Neonatal death OMIM:614870
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Abnormal circulating calcium-phosphate regulating h... ORPHA:1031
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Renal cortical cysts, Elevated circulating... ORPHA:79323
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Genu valgum,... OMIM:618913
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Neovascular Glaucoma
Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropion, Retino... ORPHA:94058
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia... OMIM:300539
Ring Chromosome 10 Syndrome
Sandal gap, Intrauterine growth retardation, Hypocalcemia, Renal hypoplasia/aplasia, Tapered finger ORPHA:1438
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Retinal thinning, Epiretinal membrane, Attenuation of ret... ORPHA:179
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Hyp... ORPHA:2088
Primary Fanconi Renotubular Syndrome
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... ORPHA:3337
Sandhoff Disease
Cherry red spot of the macula, Recurrent respiratory infections, Congestive heart failure ORPHA:796
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Beta 2-microglobulinuria, Glycosuria, Postnat... OMIM:227810
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Syn... OMIM:613697
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina... ORPHA:279914
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Broad thumb, Short finger, Postaxial hand polydacty... OMIM:300209
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Basal Ganglia Calcification, Idiopathic, 1
Athetosis, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal s... OMIM:213600
Cystinosis
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Renal insufficiency, Renal tubular dysfunct... ORPHA:213
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Oculoskeletodental Syndrome
Renal agenesis, Short femoral neck, Elbow flexion contracture, Hypocalcemia, Hypercalciuria, Muco... OMIM:618440
Hyperphenylalaninemia, Bh4-Deficient, B
Decreased urinary neopterin level, Tremor, Rigidity, Hyperkinetic movements, Elevated urinary sul... OMIM:233910
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Metaphyseal irregularity, Elevated circulating parathyroid hormone level, Hyperpho... OMIM:239200
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria, Hypoph... OMIM:616026
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Tremor, Proteinuria, Increased blood urea nitrogen... OMIM:274150
Narcolepsy 3
Narcolepsy OMIM:609039
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Fasciculations, Ankle clonus, Hoffmann sign, Babinski sign, Lower limb spasticity, Sp... OMIM:615681
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... OMIM:601493
Oncogenic Osteomalacia
Renal phosphate wasting, Abnormality of the tarsal bones, Abnormal femur morphology, Hypocalcemia... ORPHA:352540
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating creatinine c... OMIM:617872
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus ORPHA:254351
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Renal insufficiency, Proteinuria, Glomerulopathy, Hypercalcemia ORPHA:2668
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Abnormal lung lobation, Tricuspid regurgitation, Pre... ORPHA:1120
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Pallor, Tremor, Hematuria... ORPHA:94080
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Short stature OMIM:193100
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus OMIM:614432
Autosomal Recessive Spastic Paraplegia Type 48
Urinary incontinence, Progressive spastic paraplegia, Urinary bladder sphincter dysfunction, Myoc... ORPHA:306511
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Preeclampsia
Chronic kidney disease, Acute kidney injury, Type I diabetes mellitus, Elevated circulating creat... ORPHA:275555
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Intrauterine growth retardation, Postnatal growth ... OMIM:616733
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... OMIM:221900
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Short stature, Diabetes mellitus OMIM:612526
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Hypercalcemia, Papillar... OMIM:145001
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Bardet-Biedl Syndrome 4
Hypogonadism, Polydactyly, Renal cyst, Brachydactyly, Abnormality of the kidney, Syndactyly OMIM:615982
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
East Syndrome
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Hyperaldoste... ORPHA:199343
Holt-Oram Syndrome
Atrioventricular block, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ... ORPHA:392
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Growth delay, Hypocystinemia, Intrauterine growth retardation, Tremor, Decre... OMIM:617744
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hyperparathyroidism, Elevated circulating parathyroid hormone level, Hyp... OMIM:612089
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Death in childhood, Death in infancy, Congestive heart failure OMIM:615440
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... OMIM:174000
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma... ORPHA:98810
Weyers Acrofacial Dysostosis
Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydactyly, Clinodactyly of the 5th fi... OMIM:193530
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis OMIM:612287
Progressive Familial Intrahepatic Cholestasis
Short stature, Hypocalcemia ORPHA:172
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency ORPHA:1909
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Generalized aminoaciduria, Subperiosteal bone resorption, Elevat... ORPHA:289157
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Renal insufficiency, Retinal he... OMIM:611773
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal coronary artery morphology, Congestive heart failure, Abnormal aor... ORPHA:3400
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Intrauterine growth retardation, Postnatal growth retarda... ORPHA:93325
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Hemip... OMIM:235400
Hyperparathyroidism 4
Primary hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma, Nephrolithiasis OMIM:617343
Pentasomy X
Small hand, Camptodactyly of finger, Radioulnar synostosis, Hip dysplasia, Clinodactyly of the 5t... ORPHA:11
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent... OMIM:613424
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Metaphyseal irregularity, Bulging epiphyses, Enlargement of the ... OMIM:600081
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu... OMIM:603860
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Kenny-Caffey Syndrome, Type 1
Small hand, Slender long bone, Hypomagnesemia, Intrauterine growth retardation, Hypocalcemia, Pro... OMIM:244460
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Growth delay, Low-molecular-weight protein... ORPHA:18
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615986
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Epiphyseal dysplasia, Spasticity, Renal hypoplasia, Nephrocalcinosis, Congenital h... OMIM:617913
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio... OMIM:620366
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydronephrosis, Renal cyst, Mis... OMIM:613390
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Alpha-Heavy Chain Disease
Growth delay, Hypocalcemia ORPHA:100025
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia, Coxa valga OMIM:191420
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... OMIM:613195
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... OMIM:617102
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Proteinuria, Ab... OMIM:123550
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Nephrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Renal ... OMIM:601678
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t... ORPHA:364055
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism... ORPHA:89938
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Renal insufficiency, Hypocalcemia, Vesicourete... ORPHA:2237
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Myocardial infarction, Acute infectious pneumonia, Clubbi... ORPHA:60033
Drug-Induced Lupus Erythematosus
Petechiae, Elevated circulating creatine kinase concentration, Hematuria, Increased blood urea ni... ORPHA:231111
Char Syndrome
Clinodactyly of the 5th finger, Distal/middle symphalangism of 5th finger, Patent ductus arteriosus OMIM:169100
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Brachydactyly, Nocturia, Elevated circulating dihy... OMIM:223360
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyramidal sign, Ataxi... OMIM:615924
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creatinine ORPHA:54057
Phacoanaphylactic Uveitis
Posterior synechiae of the anterior chamber, Corneal keratic precipitates, Pseudophakia, Abnormal... ORPHA:209959
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Porphyria Cutanea Tarda
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... ORPHA:101330
Small Cell Carcinoma Of The Bladder
Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections ORPHA:284400
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Congestive heart failure, Tetralogy of Fallot, Aorti... OMIM:614980
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercal... OMIM:613677
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Recurrent respiratory infections, Brachydactyly, Short long bone OMIM:615633
Idiopathic Hypercalciuria
Calcium oxalate nephrolithiasis, Renal calcium wasting, Hypercalciuria ORPHA:2197
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
2-3 finger syndactyly, Patent ductus arteriosus ORPHA:1338
Polydactyly, Postaxial, Type A6
Postaxial foot polydactyly, Broad phalanges of the 5th finger, Postaxial hand polydactyly OMIM:615226
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness OMIM:616389
Periventricular Nodular Heterotopia 1
Clinodactyly, Short finger, Stroke, Cerebral hemorrhage, Patent ductus arteriosus, Syndactyly OMIM:300049
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Polydactyly-Myopia Syndrome
Postaxial hand polydactyly ORPHA:2917
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul... ORPHA:340
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Leber Congenital Amaurosis 4
Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy, Opti... OMIM:604393
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, Increased level of gamma-aminobutyric... OMIM:271980
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Sandal gap, Congestive heart failure ORPHA:2022
Spastic Paraparesis And Deafness
Short stature, Spastic paraparesis, Tremor, Hypogonadism OMIM:312910
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Bradycardia, Patent ductus arteriosus aft... OMIM:618782
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Dystonia, Babinski sign, Parkinsonism, Hypermanganesemia, Sciss... ORPHA:521406
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Postaxial foot polydactyly, Acetabular spurs, Brachydactyly, Postaxial hand polydactyly, Trident ... OMIM:617405
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Proximal muscle weakness in upper limbs, Fasciculations, Tremor, Elevated ... ORPHA:276435
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Hereditary Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Genitopalatocardiac Syndrome
Right aortic arch, Renal cyst, Double outlet right ventricle, Transposition of the great arteries... OMIM:231060
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Abnormal epiphysis morphology, Genu valgum, Hypocalcemia, Abnorma... ORPHA:53
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Postaxial polydactyly, Bilateral tali... OMIM:618142
Phenylketonuria
Tremor, Phenylalaninuria, Lower limb spasticity, Hyperphenylalaninemia, Ataxia ORPHA:716
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Homocystinuria, Methylmalonic aciduria, Hypomethioninemia, Hyperkinetic movements, Hyperhomocysti... OMIM:236270
Dystonia 6, Torsion
Laryngeal dystonia, Limb dystonia, Myoclonus, Lingual dystonia, Torticollis, Writer's cramp, Tors... OMIM:602629
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Pallor, Tremor, Hematuria... ORPHA:276621
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria, Radial bowing OMIM:617993
Hsd10 Disease
Spastic paraparesis, Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile... ORPHA:391417
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Ectopic kidney, Cystic renal dysplasia, Neonatal death OMIM:613730
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft... ORPHA:423
Rhabdoid Tumor
Cerebral palsy, Hemiplegia, Hematuria, Renal neoplasm, Hypercalcemia ORPHA:69077
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Urinary incontinence, Urinary bladder sphincter dysfunction, Tremor, Babinski... OMIM:600363
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Pulmonary hypoplasia, Arteria lusoria, Pulmonary artery atresia,... ORPHA:99050
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Gracile Bone Dysplasia
Slender long bone, Flared metaphysis, Hypocalcemia, Brachydactyly, Micropenis, Short stature OMIM:602361
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl... OMIM:177650
Kenny-Caffey Syndrome, Type 2
Severe short stature, Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the... OMIM:127000
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Prominent superficial veins, Peripheral arteriovenous fistula, Conges... ORPHA:141179
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection... ORPHA:229
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Co... ORPHA:860
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Band keratopathy, Hypoplasia of the iris, Ocular anterior segment dysgenesis, Anterior synechiae ... OMIM:614195
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Stage 5 chronic kidney dise... OMIM:615994
Congenital Disorder Of Glycosylation, Type If
Ataxia, Dry skin, Renal cortical cysts, Scaling skin, Hypertonia OMIM:609180
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Limb myoclonus, Myoclonus, Torticollis, Writer's cramp, Dystonia ORPHA:36899
Cholera
Acute kidney injury, Hypocalcemia, Hypokalemia, Hyponatremia, Palmoplantar cutis laxa, Decreased ... ORPHA:173
Narcolepsy 1
Narcolepsy OMIM:161400
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Urocanic Aciduria
Gait ataxia, Action tremor, Urocanic aciduria, Ataxia, Abnormal circulating histidine concentrati... ORPHA:210128</