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Gene: Tctn3 MGI:1914840

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Gene Summary

Name:
tectonic family member 3
Synonyms:
4930521E07Rik,  Tect3

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating total protein level Tctn3em1(IMPC)J HET Early adult 1.70×10-11
abnormal cholesterol homeostasis Tctn3em1(IMPC)J HET Early adult 1.12×10-05
anophthalmia Tctn3em1(IMPC)J HOM E18.5 0.00
polydactyly Tctn3em1(IMPC)J HOM E18.5 0.00
abnormal embryo size Tctn3em1(IMPC)J HOM E18.5 0.00
decreased circulating calcium level Tctn3em1(IMPC)J HET Early adult 3.42×10-12
preweaning lethality, complete penetrance Tctn3em1(IMPC)J HOM   Early adult 0.00
abnormal body wall morphology Tctn3em1(IMPC)J HOM E18.5 0.00

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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 Forepaw

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Morphology Embryo E18.5

Images

6 Images

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MicroCT E18.5

Embryo reconstruction

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Tctn3 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 predicted to be associated to Tctn3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism, Limited elbow extension, Holoprosencephaly, Tapered finger OMIM:300706
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Upper limb phocomelia, Abnormal heart morphology, Stillbirth, Polydactyly, Abnormal c... ORPHA:294975
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A OMIM:618498
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Acalvaria
Holoprosencephaly, Postaxial hand polydactyly, Hydrocephalus, Spina bifida ORPHA:945
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosenceph... OMIM:609637
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Holoprosencephaly, Polyhydramnios OMIM:617967
Adamantinoma
Hypercalcemia ORPHA:55881
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Vissers-Bodmer Syndrome
Holoprosencephaly, Tapered finger OMIM:619033
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Ring Chromosome 21 Syndrome
Syndactyly, Small hand, Narrow palm, Abnormal heart morphology, Azoospermia, Holoprosencephaly, C... ORPHA:1445
Thanatophoric Dysplasia Type 2
Encephalocele, Micromelia, Polyhydramnios, Hydrocephalus, Increased nuchal translucency, Patent d... ORPHA:93274
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Single transverse palmar crease, Anophthalmia, Capitate-hamate fusion... OMIM:206920
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Mic... ORPHA:1908
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Microphth... OMIM:613885
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Anencephaly, Abnormal ca... ORPHA:1590
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Anterior encephalocele, Foot oligodactyly, Holoprosencephaly OMIM:601357
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... ORPHA:93323
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly, Oligohydramnios OMIM:615397
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb ORPHA:2182
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Distal Monosomy 7Q36
Cryptorchidism, Symphalangism affecting the phalanges of the hand, Holoprosencephaly, Clinodactyl... ORPHA:1636
Hartsfield Syndrome
Encephalocele, Aplasia/Hypoplasia of the radius, Split hand, Lobar holoprosencephaly ORPHA:2117
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia, Orbital encephalocele, Congenital hip dislocation OMIM:164180
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Bardet-Biedl Syndrome 7
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Short-Rib Thoracic Dysplasia 12
Edema, Bowing of the legs, Polyhydramnios, Holoprosencephaly, Short palm, Neonatal death, Patent ... OMIM:269860
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Lambotte Syndrome
Preaxial foot polydactyly, Ventricular septal defect, Semilobar holoprosencephaly OMIM:245552
Triploidy
Finger syndactyly, Polyhydramnios, Cryptorchidism, Hydrocephalus, Meningocele, Abnormal cardiac s... ORPHA:3376
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Holoprosencephaly, Camptodactyly of finger, Adducted thumb ORPHA:2570
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly, Short distal phalanx of finger, Coxa valga OMIM:601370
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Meckel Syndrome, Type 2
Omphalocele, Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An... OMIM:603194
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h... OMIM:619879
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Patent... ORPHA:65759
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Holoprosencephaly 11
Holoprosencephaly OMIM:614226
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Decreased testicular size, Proximal placement of thumb, Alobar holoprosencephaly OMIM:615433
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Cryptorchidism, Postaxial hand polydactyl... OMIM:264480
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Monosomy 18P
Lymphedema, Holoprosencephaly, Brachydactyly ORPHA:1598
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Microtia-Anotia
Holoprosencephaly OMIM:600674
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... OMIM:617927
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph... ORPHA:139471
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Ventricular s... OMIM:146510
Holoprosencephaly-Craniosynostosis Syndrome
Coxa valga, Holoprosencephaly, Clinodactyly of the 5th finger, Short distal phalanx of finger, Br... ORPHA:2163
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Holoprosencephaly, Polyhydramnios, Situs inversus totalis OMIM:202650
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida ORPHA:1104
Dengue Fever
Hypoproteinemia ORPHA:99828
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Holoprosencephaly, Radial club hand ORPHA:2165
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Trisomy 13
Anophthalmia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle ... ORPHA:3378
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Septooptic Dysplasia
Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger OMIM:182230
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Holoprosencep... ORPHA:77298
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly ORPHA:141333
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Hydrolethalus
Anophthalmia, Micromelia, Postaxial hand polydactyly, Anencephaly, Microphthalmia ORPHA:2189
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Holoprosencephaly, Polyhydramnios ORPHA:990
49,Xxxxy Syndrome
Down-sloping shoulders, Coxa valga, Elbow dislocation, Cryptorchidism, Hip dislocation, Azoosperm... ORPHA:96264
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis, Neonatal death OMIM:276822
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly, Partial atrioventri... OMIM:615996
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Ventricular septal defect, Cryptorchidism, 3-4 finger cutaneous syndactyly, Holoprose... OMIM:612530
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Polyhydramnios, Myelomeningocele, Hy... ORPHA:63259
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Spina bifida, Cryptorchidism, Postaxial hand ... ORPHA:3380
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Holoprosencephaly, Talipes equinovarus ORPHA:250999
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Lobar holoprosencepha... OMIM:614701
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Meckel Syndrome, Type 3
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... OMIM:607361
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchi... OMIM:613390
Trisomy 1Q
Omphalocele, Anophthalmia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand... ORPHA:261344
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Hydrocephalus, Polydactyly, Ventricular septal defect OMIM:602501
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Holopro... ORPHA:261236
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Polyhydramnios, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Abnorma... ORPHA:2166
Microtia
Holoprosencephaly ORPHA:83463
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Omenn Syndrome
Hypoproteinemia OMIM:603554
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Pos... OMIM:614815
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Achondrogenesis, Type Ib
Micromelia, Edema, Hypoplastic ilia, Polyhydramnios, Hydrops fetalis, Stillbirth, Umbilical hernia OMIM:600972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Holoprosencephaly, Tra... OMIM:253800
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... ORPHA:2756
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Abnormal heart... OMIM:184705
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Oligohydramnios, Cutaneous ... OMIM:236500
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Inguinal hernia, Tapered finger, Flattened epiphysis, Genu valgum, Polydact... OMIM:607131
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Postaxial polydactyly, Cryptorchidism, Short long bone, Brachydactyly OMIM:615633
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... OMIM:617102
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Hiatus hernia, Abnormality of... ORPHA:2538
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Abnormality of the hum... ORPHA:3186
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... OMIM:617926
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Timothy Syndrome
Hypocalcemia OMIM:601005
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94089
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Polyhydramnios, Holoprosencephaly, Atrial septal defect, Atrioventri... ORPHA:818
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent radius, Hydrocep... OMIM:314390
Nephronophthisis 15
Polydactyly OMIM:614845
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Polydactyly, Hypoplastic ischia OMIM:616910
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Townes-Brocks Syndrome 1
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndac... OMIM:107480
Halperin-Birk Syndrome
Hip dislocation, Perimembranous ventricular septal defect, Talipes equinovarus, Death in childhoo... OMIM:618651
Manitoba Oculotrichoanal Syndrome
Omphalocele, Microphthalmia, Anophthalmia OMIM:248450
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Inguinal hernia, Anophthalmia, Camptodactyly of finger, Ulnar deviation of finger, Talipes equino... ORPHA:1101
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Meckel Syndrome, Type 10
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... OMIM:614175
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i... OMIM:615994
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Death in adolescence, Hydro... OMIM:620014
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Holoprosencephaly 14
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... OMIM:619895
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:2470
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ventricular septal defect, Paten... OMIM:618142
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Short foot, Short palm, Cli... ORPHA:264200
Vacterl With Hydrocephalus
Inguinal hernia, Anophthalmia, Spina bifida, Hypoplasia of the radius, Hip dislocation, Microphth... ORPHA:3412
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti... OMIM:258860
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Cryptorchidism, Hy... ORPHA:2162
Meckel Syndrome
Encephalocele, Bowing of the long bones, Situs inversus totalis, Preaxial hand polydactyly, Posta... ORPHA:564
Jacobsen Syndrome
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holoprosencephaly... OMIM:147791
Pancreatic Agenesis-Holoprosencephaly Syndrome
Aplasia/Hypoplasia of the phalanges of the thumb, Holoprosencephaly, Semilobar holoprosencephaly ORPHA:556955
Arthrogryposis Multiplex Congenita 6
Death in infancy, Polyhydramnios, Death in childhood, Neonatal death, Adducted thumb OMIM:619334
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Polyhydramnios, Increased nuchal translucency, Abnormality of the upper lim... ORPHA:1052
Smith-Lemli-Opitz Syndrome
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Holoprosencephaly, Atrial ... OMIM:270400
Solitary Median Maxillary Central Incisor
Holoprosencephaly OMIM:147250
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Inguinal hernia, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinoda... ORPHA:397590
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Polyhydramnios, Ventricular septal defect, Postaxial polydactyly OMIM:219730
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Chromosome 13Q14 Deletion Syndrome
Overlapping toe, Single transverse palmar crease, Ventricular septal defect, Cryptorchidism, Hip ... OMIM:613884
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Pallister-Hall Syndrome
Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, Mesoaxial polydactyly, Ra... ORPHA:672
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... OMIM:614091
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Focal Dermal Hypoplasia
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl... OMIM:305600
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Holoprosencephaly 4
Semilobar holoprosencephaly OMIM:142946
Microform Holoprosencephaly
Tetralogy of Fallot, Holoprosencephaly ORPHA:280200
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry ORPHA:231140
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... OMIM:617866
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial polydactyly, Tapered finge... OMIM:619721
Walker-Warburg Syndrome
Metatarsus valgus, Microphthalmia, Anophthalmia ORPHA:899
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Steatorrhea OMIM:212750
Isolated Exencephaly
Holoprosencephaly, Polyhydramnios ORPHA:563612
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79444
Joubert Syndrome 23
Polydactyly OMIM:616490
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Pelger-Huet Anomaly
Ventricular septal defect, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical h... OMIM:169400
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Atrial septal defect, Ventricular septal defect, Postaxial polydactyly, Hydroce... OMIM:614576
Joubert Syndrome 7
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum OMIM:611560
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Holoprosencephaly, Clinodactyly of the 5th fi... ORPHA:1587
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Tarp Syndrome
Atrial septal defect, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly,... OMIM:311900
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Neonatal death, Hitchhiker thumb, Semilobar holoprosencephaly, Lobar holoprosencephaly OMIM:618500
Hypophosphatasia
Hypercalcemia ORPHA:436
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Hartsfield Syndrome
Syndactyly, Alobar holoprosencephaly, Cryptorchidism, Lobar holoprosencephaly, Ectrodactyly, Semi... OMIM:615465
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyl... OMIM:615503
Hogue-Janssen Syndrome 2
Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Deviation of the 5th finger OMIM:616362
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Suleiman-El-Hattab Syndrome
Ventricular septal defect, Single transverse palmar crease, Cryptorchidism, Polydactyly, Atrial s... OMIM:618950
Orofaciodigital Syndrome Vi
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Oc... OMIM:277170
Congenital Sialidosis Type 2
Edema, Hydrocephalus, Abnormal heart morphology, Polydactyly, Umbilical hernia, Ascites ORPHA:93400
Ring Chromosome 7 Syndrome
Single transverse palmar crease, Situs inversus totalis, Small hand, Genu valgum, Hydrocele testi... ORPHA:1449
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Bardet-Biedl Syndrome 8
Situs inversus totalis, Postaxial polydactyly OMIM:615985
Arachnoid Cyst
Encephalocele, Hydrocephalus, Holoprosencephaly ORPHA:2356
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Postaxial hand polyda... OMIM:605627
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia OMIM:617913
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the r... OMIM:617895
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Otopalatodigital Syndrome Type 2
Encephalocele, Bowing of the long bones, Abnormal heart valve morphology, Tarsal synostosis, Shor... ORPHA:90652
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Atelosteogenesis, Type I
Polyhydramnios, Short metatarsal, Tibial bowing, Neonatal death, Encephalocele, Short metacarpal,... OMIM:108720
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the... OMIM:609638
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
1-2 toe syndactyly, Broad hallux, Ventricular septal defect, Tapered finger, Partial anomalous pu... OMIM:301044
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Polyhydramnios, Hydrocephalus, Preaxial pol... OMIM:616546
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
3P25.3 Microdeletion Syndrome
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... ORPHA:435638
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Broad hallux, Ventricular septal defect, Cryptorchidism, Postaxial hand ... OMIM:615948
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly ORPHA:313781
Charge Syndrome
Polyhydramnios, Aqueductal stenosis, Cryptorchidism, Abnormal tibia morphology, Patent ductus art... ORPHA:138
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79443
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Opti... OMIM:607323
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Hypoplastic left h... OMIM:301043
Chromosome 3Pter-P25 Deletion Syndrome
Overlapping toe, Postaxial polydactyly, Tapered finger, Macular hypoplasia, Intrauterine growth r... OMIM:613792
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Inguinal hernia, Anophthalmia, Bilateral microphthalmos OMIM:601186
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly OMIM:615761
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Charge Syndrome
Abnormal palmar dermatoglyphics, Polyhydramnios, Secundum atrial septal defect, Hand monodactyly,... OMIM:214800
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Postaxial polydactyly OMIM:603387
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth, Atr... OMIM:619142
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Joubert Syndrome 27
Polydactyly OMIM:617120
Rhombencephalosynapsis
Finger syndactyly, Hydrocephalus, Polydactyly, Complete duplication of thumb phalanx, Short phala... ORPHA:59315
Pierson Syndrome
Hypoproteinemia OMIM:609049
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Patent ductus arteriosus, Squar... OMIM:616300
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Retinitis Pigmentosa 89
Bicuspid aortic valve, Postaxial polydactyly OMIM:618955
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Holoprosencephaly 9
Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly OMIM:610829
Joubert Syndrome 39
Occipital encephalocele, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial p... OMIM:619562
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Hypercalcemia ORPHA:97289
Pearson Syndrome
Hypomagnesemia, Steatorrhea, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia ORPHA:699
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Inguinal hernia, Anophthalmia ORPHA:2250
Holoprosencephaly 3
Holoprosencephaly OMIM:142945
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Hip dysplasia, Polydactyly, Abnormal heart morphology ORPHA:531151
Microphthalmia, Syndromic 2
Anophthalmia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, 2-3 toe syndactyly, Hammert... OMIM:300166
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Meningocele OMIM:614424
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Postaxial polydactyly, Cryptorchidism, 2-3 toe syndactyly, Abnormal he... ORPHA:404440
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Camptodactyly of finger, Cryptorchidism, 4-5 finger syndactyly, Lobar holo... ORPHA:468631
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Gitelman Syndrome
Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Primary hyperaldosteronism ORPHA:358
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... OMIM:210710
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Holoprosencephaly, Cryptorchidism OMIM:618820
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Joubert Syndrome 37
Microphthalmia, Postaxial polydactyly OMIM:619185
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea... OMIM:607932
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ... OMIM:109400
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Hyperuricemia ORPHA:199299
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Bilateral cryptorchidism, Central Y-shaped metacarpal, Preaxia... ORPHA:2754
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Postaxial polydactyly, Oligohydramnios OMIM:615824
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Cryptorchidism, Split hand, Xerostomia, Split foot, Hand polydactyly, Semilobar h... OMIM:129900
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patel... OMIM:603671
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Neu-Laxova Syndrome 1
Micromelia, Polyhydramnios, Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Finge... OMIM:256520
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... ORPHA:221120
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Myelomeningocele, Aplasia/Hypoplasi... OMIM:219000
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Increased circul... ORPHA:95409
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Holoprosencephaly 2
Semilobar holoprosencephaly, Single ventricle, Holoprosencephaly, Alobar holoprosencephaly OMIM:157170
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal stippling, Abnormal pelvic g... OMIM:302960
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Fraser Syndrome
Omphalocele, Finger syndactyly, Encephalocele, Anophthalmia, Toe syndactyly, Myelomeningocele, Um... ORPHA:2052
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Mend Syndrome
Overlapping toe, Broad hallux, Long fingers, Cryptorchidism, Hydrocephalus, 2-3 toe syndactyly, P... OMIM:300960
Combined Pituitary Hormone Deficiencies, Genetic Forms
Decreased testicular size, Polydactyly, Abnormal digit morphology, Holoprosencephaly ORPHA:95494
Miller-Dieker Lissencephaly Syndrome
Single transverse palmar crease, Polyhydramnios, Cryptorchidism, Abnormal heart morphology, Deep ... OMIM:247200
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Hy... OMIM:601678
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia OMIM:615636
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Abnormal acetabulum morphology, Postaxial polydactyly, Rhizomelic leg sh... ORPHA:397715
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of finger, Postaxial... OMIM:249000
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Holoprosencephaly 1
Ethmocephaly, Single ventricle, Alobar holoprosencephaly OMIM:236100
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Polyhydramnios, Bilateral cryptorchidism, Hypoplastic iliac wing... OMIM:180849
Proboscis Lateralis
Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly ORPHA:141099
Orofaciodigital Syndrome V
Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Ventricular septal defect, Postaxia... OMIM:174300
Orofaciodigital Syndrome I
Syndactyly, Myelomeningocele, Hydrocephalus, Abnormal heart morphology, Short 2nd toe, Polydactyl... OMIM:311200
Stromme Syndrome
Hydrocephalus, Stillbirth, Preaxial polydactyly OMIM:243605
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Bardet-Biedl Syndrome 1
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... OMIM:209900
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Adnp Syndrome
Inguinal hernia, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morpholo... ORPHA:404448
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Complete atrioventricular canal defect, Preaxial polydactyly, Hypoplastic ... OMIM:617925
Branchiooculofacial Syndrome
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short thumb, Preaxial... OMIM:113620
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... OMIM:619471
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Hypercalcemia OMIM:131100
Addison Disease
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Increased circul... ORPHA:85138
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cr... ORPHA:2886
Pheochromocytoma
Hypercalcemia OMIM:171300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Cryptorchidism, Patent ... ORPHA:464306
Carpenter Syndrome 2
Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Cutan... OMIM:614976
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Hypercalcemia, Hypophosphatemia ORPHA:249
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Ventricular septal defect, Spina bifida, Absent radius, Shor... OMIM:192350
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal d... OMIM:619534
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Brachydactyly OMIM:614099
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Postaxial polydactyly, Tapered finger, Patent ductus arteriosus, Small hand, Hip dislocation, Sho... OMIM:300968
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia OMIM:619503
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Abnormal heart morphology ORPHA:314655
Monosomy 9Q22.3
Palmar pits, Hydrocephalus, Cardiac fibroma, Polydactyly, Umbilical hernia ORPHA:77301
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Edema, Long fingers, ... OMIM:617527
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Polyhydramnios, Postaxial hand polydactyly, Patent ductus arteriosus, Hyd... OMIM:613610
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Joubert Syndrome
Encephalocele, Situs inversus totalis, Hydrocephalus, Hand polydactyly, Foot polydactyly ORPHA:475
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Helsmoortel-Van Der Aa Syndrome
Atrial septal defect, Broad hallux, Sandal gap, Tapered finger, Cryptorchidism, Small hand, Genu ... OMIM:615873
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Inguinal hernia, Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hip dysplasia, Clin... ORPHA:457284
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Narrow greater sciatic notch, Short palm, Atrial septal defect, Cryptorchidism, P... OMIM:312870
Microphthalmia, Syndromic 1
Syndactyly, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Short clavicle... OMIM:309800
Kinsship Syndrome
Death in infancy, Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasi... OMIM:619297
Somatostatinoma
Increased circulating cortisol level, Hypercalcemia, Steatorrhea ORPHA:97283
Choanal Atresia
Polydactyly ORPHA:137914
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Cryptorchidism, Lipomyelomeningocele, Deep pa... OMIM:616580
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Polyhydramnios, Postaxial hand polydactyly, Patent ductus arteriosus, Cone... OMIM:617088
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Ventricular septal defect, Abnormal pulmonary valve morphology, Tapered finger, Ab... ORPHA:268261
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Bicuspid aortic valve, Hy... OMIM:610168
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Abnormal mitochondrial shape, Patent ductus arteriosus, Polydactyly, ... ORPHA:17
Vipoma
Hypokalemia, Increased circulating cortisol level, Hypercalcemia ORPHA:97282
Ppoma
Increased circulating cortisol level, Hypercalcemia ORPHA:97278
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Polyhydramnios, Atrial septal defect, Patent foramen ovale, Syndactyly, Br... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Polyhydramnios, Atrial septal defect, Patent foramen ovale, Syndactyly, Br... ORPHA:353277
Digeorge Syndrome
Hypocalcemia OMIM:188400
3Mc Syndrome 3
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly, Cryptorchidism OMIM:248340
Glucagonoma
Increased circulating cortisol level, Hypercalcemia, Steatorrhea ORPHA:97280
Leptospirosis
Hyperproteinemia ORPHA:509
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Cryptorchidism, Increase... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Cryptorchidism, Increase... ORPHA:352665
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Hypercalcemia ORPHA:913
Degcags Syndrome
Syndactyly, Toe syndactyly, Ventricular septal defect, Polyhydramnios, Short thumb, Preaxial hand... OMIM:619488
Grfoma
Increased circulating cortisol level, Hypercalcemia ORPHA:97261
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Khan-Khan-Katsanis Syndrome
Buphthalmos, Intrauterine growth retardation, Clinodactyly, Postaxial polydactyly OMIM:618460
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Hypercalcemia ORPHA:276152
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Polydactyly ORPHA:769
Culler-Jones Syndrome
Cryptorchidism, Postaxial polydactyly OMIM:615849
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Neurocardiofaciodigital Syndrome
Syndactyly, Patent ductus arteriosus, Double inlet left ventricle, Polydactyly, Atrial septal def... OMIM:619869
Okamoto Syndrome
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... ORPHA:2729
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Genu valgum, Branchi... OMIM:164210
Legius Syndrome
Mitral valve prolapse, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosis, Clinodactyly of the ... ORPHA:137605
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Faciocardiomelic Syndrome
Slender long bone, Common atrium, Polydactyly, Hypoplastic pelvis OMIM:612731
Multiple Endocrine Neoplasia Type 1
Primary hypercortisolism, Increased circulating cortisol level, Hypercalcemia ORPHA:652
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... OMIM:149730
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Hypoplastic left heart, Polydactyly, Apical muscular ventricular ... OMIM:301022
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger... ORPHA:480880
Williams Syndrome
Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con... ORPHA:904
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Sarcoidosis
Hypercalcemia ORPHA:797
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Sotos Syndrome
Hypercalcemia ORPHA:821
Orofaciodigital Syndrome Type 4
Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Preaxial hand polydactyly, Po... ORPHA:2753

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tctn3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tctn3.

No publications found that use IMPC mice or data for Tctn3.

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MGI Allele Allele Type Produced
Tctn3em1(IMPC)J Exon Deletion Mice
Tctn3tm47188(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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