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Gene: Arl16 MGI:1917567

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Gene Summary

Name:
ADP-ribosylation factor-like 16
Synonyms:
2600005N12Rik

Order Alleles

IMPC Data Collections

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
abnormal skin morphology Arl16em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Arl16em1(IMPC)Ccpcz HOM Early adult 0.00
small spleen Arl16em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal eye morphology Arl16em1(IMPC)Ccpcz HOM Early adult 0.00
decreased body weight Arl16em1(IMPC)Ccpcz HOM Early adult 7.50×10-06
abnormal testis morphology Arl16em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Arl16em1(IMPC)Ccpcz HOM Early adult 0.00
polysyndactyly Arl16em1(IMPC)Ccpcz HOM Early adult 2.08×10-16
abnormal spleen morphology Arl16em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skeletal muscle morphology Arl16em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Arl16em1(IMPC)Ccpcz HOM Early adult 0.00
small testis Arl16em1(IMPC)Ccpcz HOM Early adult 0.00
short tibia Arl16em1(IMPC)Ccpcz HOM Early adult 2.56×10-05
enlarged thymus Arl16em1(IMPC)Ccpcz HOM Early adult 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 Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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XRay Images Forepaw

14 Images

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Human diseases caused by Arl16 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Arl16 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Small for gestational age, Abnormal heart morphology, Upper limb phocomelia, Abnormal... ORPHA:294975
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Male hypogonadism, Azoospermia OMIM:241000
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Bardet-Biedl Syndrome 5
Syndactyly, External genital hypoplasia, Obesity, Polydactyly, Hypogonadism, Micropenis, Brachyda... OMIM:615983
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Abnormal reproductive... ORPHA:65759
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Bardet-Biedl Syndrome 11
Hypogonadism, Polydactyly, Obesity OMIM:615988
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Bardet-Biedl Syndrome 4
Syndactyly, External genital hypoplasia, Cryptorchidism, Obesity, Polydactyly, Hypogonadism, Brac... OMIM:615982
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... OMIM:620135
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Ethanolaminosis
Cardiomegaly OMIM:227150
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Small scrotum, Hypospadias, Small for gestati... OMIM:607143
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Slc35A2-Cdg
Failure to thrive in infancy, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metat... ORPHA:356961
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Myopathy, Aplasia of the middle phalanx of the hand, Clinodac... OMIM:610140
Bardet-Biedl Syndrome 10
Hypogonadism, Polydactyly, Obesity OMIM:615987
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla... OMIM:201170
Bardet-Biedl Syndrome 19
Ventricular septal defect, External genital hypoplasia, Postaxial polydactyly, Mesoaxial hand pol... OMIM:615996
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Hypogonadism, Polydactyly, Clinodactyly OMIM:615984
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Abnormality of the diaphragm, Clinod... OMIM:601163
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Bent Bone Dysplasia Syndrome 2
Atrial septal defect, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Fem... OMIM:620076
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... ORPHA:1263
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... OMIM:618654
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor... OMIM:605274
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy... ORPHA:2141
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
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... OMIM:609945
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Bardet-Biedl Syndrome 14
Polydactyly, Obesity OMIM:615991
Bardet-Biedl Syndrome 13
Polydactyly, Obesity OMIM:615990
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal foot morphology, Vacuolated lymphocytes, Failu... OMIM:269920
Microphthalmia, Isolated 4
Absent testis, Postaxial polydactyly OMIM:613094
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Dextrocardia,... OMIM:173800
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Aplasi... ORPHA:2256
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... OMIM:235200
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Ventricular septal defect, Abnormality of neutrophils, Thrombocytopeni... OMIM:169400
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Rocker bottom foot, Atrial septal defect, Hypoplastic spleen, Patent foramen o... ORPHA:89844
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormal metacarpophalangeal joint morphology, Hepatomegaly, Diabetes mellitus, Hypogonadotropic ... ORPHA:465508
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Thro... ORPHA:858
Microphthalmia With Limb Anomalies
Failure to thrive, Toe syndactyly, Sandal gap, Single transverse palmar crease, Unilateral crypto... OMIM:206920
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Pancreatic fibrosis, Ventricular septal defect, Preaxial hand polydactyly, ... OMIM:263520
Mirage Syndrome
Decreased body weight, Hypospadias, Rocker bottom foot, Adrenal hypoplasia, Hypergonadotropic hyp... OMIM:617053
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Ventricular septal defect, Micrognathia, L... OMIM:258315
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Cardiomegaly, Glandular hypospadias, Talipes equinovarus, Short tibia, Limb hypertonia OMIM:620306
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Long penis, Abnormal fibula morphol... ORPHA:1988
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra... OMIM:601559
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplas... OMIM:113000
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... OMIM:147750
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Ventricular hypertrophy, Congenital hip dislocation, Left ventricular hypertrophy,... OMIM:300280
Eiken Syndrome
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Bilateral single transverse palmar creases, Cryptorchidis... ORPHA:2377
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Abnormal external genitalia, Small for gestational age, Diastasis recti, Lower limb asymmetry, Up... ORPHA:231140
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Postaxial foot polydactyly, Hypogonadism, Polydactyly OMIM:617119
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Bilateral cryptorchidis... OMIM:305400
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Increased v... OMIM:617022
Bardet-Biedl Syndrome 8
Hypospadias, Postaxial polydactyly, Situs inversus totalis, Obesity, Hypogonadism OMIM:615985
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... OMIM:617926
Gracile Bone Dysplasia
Asplenia, Flared metaphysis, Micropenis, Slender long bone, Hypoplastic spleen, Failure to thrive... OMIM:602361
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, External genital hypoplasia, Large for gestational age, Microgna... ORPHA:96334
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi... OMIM:616300
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Postaxial polydactyly, Septate vagina, Micrognathia, Complete atrioventricula... OMIM:617925
Bardet-Biedl Syndrome 16
Hypogonadism, Polydactyly, External genital hypoplasia, Obesity OMIM:615993
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormality of... ORPHA:3344
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Short thumb... OMIM:600325
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Failure to thrive, C... OMIM:614096
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Acromelic Frontonasal Dysostosis
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... OMIM:603671
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i... OMIM:615994
Moebius Syndrome
Syndactyly, Brachydactyly, Pes planus, Hypogonadotropic hypogonadism, Micrognathia, Split hand, M... OMIM:157900
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuol... OMIM:256550
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenom... OMIM:615631
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Pancreatic fibrosis, Ventricular septal defect, Postaxial polydactyly, Preaxial polyd... OMIM:615503
Retinitis Pigmentosa 89
Bicuspid aortic valve, Postaxial polydactyly, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic... OMIM:618955
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Cryptorchidism, Obesity, Short long bone, Brachydactyly OMIM:615633
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Foot oligodactyly, Hepa... OMIM:616589
Shox-Related Short Stature
Micrognathia, Madelung deformity, Obesity, Tibial bowing, Short foot, Genu valgum, Skeletal muscl... ORPHA:314795
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Biemond Syndrome Type 2
Hypospadias, Hypogonadotropic hypogonadism, Preaxial polydactyly, Obesity, Hypogonadism, Delayed ... ORPHA:141333
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Arachnodactyly, Micrognathia, Type 1 muscle fiber atrophy, Type 2 muscle fibe... OMIM:619036
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Palmoplantar keratoderma, Cardiomegaly OMIM:613576
Cantu Syndrome
Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomegaly, Pericardial effusion... OMIM:239850
Isolated Anencephaly
Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Kennedy Disease
Skeletal muscle atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Te... ORPHA:481
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Micrognathia, Preaxial ha... OMIM:236680
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna... OMIM:142900
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Small for gestational age, Micrognathia, Cr... ORPHA:397590
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Fractured radius, Hypospadias, Ventricular septal defect, Decreased fibular diameter... OMIM:616897
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Limb muscle weakness, Testicular atrophy, Decreased fertility OMIM:313200
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Irregular menstruation, Obesity, P... OMIM:615986
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Attrv30M Amyloidosis
Cardiomyopathy, Impotence, Weight loss, Cardiomegaly ORPHA:85447
Silver-Russell Syndrome 1
Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Small for gestati... OMIM:180860
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Silver-Russell Syndrome 3
Syndactyly, Ambiguous genitalia, Unilateral cryptorchidism, Small for gestational age, Elbow cont... OMIM:616489
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers... OMIM:227270
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Microphthalmia, Syndromic 9
Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cry... OMIM:601186
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Congenital hypothyroidism ORPHA:88643
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... OMIM:617927
Atelosteogenesis Type Iii
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... ORPHA:56305
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Myopathy, Reduced m... OMIM:212140
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent foramen ovale, Atrial s... OMIM:618652
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias, Polydactyly, Hypoplastic ischia OMIM:616910
Omodysplasia 2
Short humerus, Dyspareunia, Hypospadias, Micrognathia, Cryptorchidism, Uterus didelphys, Fibular ... OMIM:164745
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Mitral valve... ORPHA:324410
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Joubert Syndrome 33
Splenomegaly, Syndactyly OMIM:617767
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Small for gestational age, Micromelia, Cardiomegaly, Wide distal femoral m... OMIM:613320
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... ORPHA:3429
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Pes cavus, Hypogonadot... OMIM:308750
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteolysis involv... ORPHA:88630
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Suleiman-El-Hattab Syndrome
Microretrognathia, Ventricular septal defect, Single transverse palmar crease, Cryptorchidism, Po... OMIM:618950
Meckel Syndrome, Type 3
Hepatomegaly, Malformation of the hepatic ductal plate, Postaxial hand polydactyly, Postaxial foo... OMIM:607361
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Hypersplenism, Splenomegaly, Portal vein thrombosis, Pulmonic stenosis... OMIM:616028
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ventricula... OMIM:618142
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Pes planus, Arachnodactyly, Bicuspid aortic valve, Postaxial polydactyly, T... OMIM:619721
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... OMIM:222300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Leukemia, Polydactyly, Ventricular septal defect OMIM:602501
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Micropenis, Syndactyly, Nephrogenic diabetes insipidus, Obesity, Postaxial foot... OMIM:209900
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Laurence-Moon Syndrome
Small scrotum, Abnormality of the hand, Obesity, Polydactyly, Micropenis OMIM:245800
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Skeletal muscle atrophy, Cryptorchidism, Postaxial hand p... ORPHA:110
Mulibrey Nanism
Hepatomegaly, Single transverse palmar crease, Cardiomegaly, Absent frontal sinuses, Hypoplastic ... OMIM:253250
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Craniosynostosis With Fibular Aplasia
Cryptorchidism, Single transverse palmar crease, Fibular aplasia OMIM:218550
Holt-Oram Syndrome
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Down-sloping shoulders, Absen... ORPHA:392
Senior-Loken Syndrome 9
Hypoplasia of the femoral head, Obesity, Cholestasis, Hypogonadism, Polydactyly, Hepatic fibrosis OMIM:616629
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Pri... OMIM:603903
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Pedal edema, Bacteria... ORPHA:615
Seckel Syndrome 1
Ivory epiphyses, 11 pairs of ribs, Pancytopenia, Pes planus, Sandal gap, Abnormal finger flexion ... OMIM:210600
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Then... ORPHA:2463
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... OMIM:306955
Joubert Syndrome 18
Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Intra... OMIM:614815
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... OMIM:619471
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, Single transve... OMIM:618143
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Micrognathia, Splenomegaly, Abnormality of the lower lim... ORPHA:3035
Joubert Syndrome 37
Hepatomegaly, Postaxial polydactyly, Cryptorchidism, Obesity, Micropenis, Decreased testicular size OMIM:619185
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anisocyto... OMIM:224120
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly OMIM:619064
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cachexia, Cardiomegaly, Myopathy, Distal arthrogryposis, H... ORPHA:42
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Micrognathia, Knee dislocat... OMIM:245600
Ritscher-Schinzel Syndrome 1
Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi... OMIM:220210
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Sept... ORPHA:1319
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis, Postaxial polydactyly OMIM:213010
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Ritscher-Schinzel Syndrome 2
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... OMIM:300963
Mckusick-Kaufman Syndrome
Finger syndactyly, Failure to thrive, Ventricular septal defect, Tarsal synostosis, Cryptorchidis... ORPHA:2473
9Q21.13 Microdeletion Syndrome
Talipes, Cryptorchidism, Abnormal heart morphology, Hip dysplasia, Polydactyly ORPHA:531151
Nephronophthisis 15
Polydactyly, Obesity OMIM:614845
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... OMIM:617102
Ring Chromosome 12 Syndrome
Syndactyly, Small for gestational age, Secundum atrial septal defect, Cryptorchidism, Abnormal 5t... ORPHA:1439
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hyperthyroidism, Camptodac... ORPHA:2008
Mogs-Cdg
Atrial septal defect, Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly... ORPHA:79330
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... ORPHA:958
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Failu... OMIM:614702
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ... OMIM:164900
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Endocrine-Cerebroosteodysplasia
Small scrotum, Single transverse palmar crease, Micromelia, Adrenal hypoplasia, Micrognathia, Pre... OMIM:612651
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Absent nipple, Congenital diaphragm... OMIM:200980
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia OMIM:613987
Bardet-Biedl Syndrome 6
Syndactyly, Diabetes mellitus, Hypospadias, External genital hypoplasia, Postaxial polydactyly, O... OMIM:605231
Bardet-Biedl Syndrome 3
Obesity, External genital hypoplasia, Postaxial polydactyly, Brachydactyly OMIM:600151
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Amegakaryocytic thrombocytopenia, Radial bowing, Apl... OMIM:605432
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial... ORPHA:1827
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ... OMIM:157640
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... OMIM:614091
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failure to thrive ORPHA:99931
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Split foot, Hypoplastic nipples, Camptodactyly, Joint cont... OMIM:603543
Refsum Disease, Classic
Short fourth metatarsal, Cardiomegaly, Cardiomyopathy, Limb muscle weakness, Pes cavus OMIM:266500
Septooptic Dysplasia
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Polydactyly... OMIM:182230
Proteus-Like Syndrome
Thymus hyperplasia, Genu recurvatum, Lower limb asymmetry, Splenomegaly, Abnormality of the parat... ORPHA:2969
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Myopathy, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop... OMIM:617895
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Camptobrachydactyly
Syndactyly, Septate vagina, Short toe, Hand polydactyly, Congenital finger flexion contractures, ... OMIM:114150
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Hypothyroidism, Cutaneous syndactyly, Tetralogy of Fallo... OMIM:601005
Mucolipidosis Ii Alpha/Beta
Cardiomegaly, Micrognathia, Metaphyseal widening, Hepatomegaly, Hypoplasia of the odontoid proces... OMIM:252500
Meckel Syndrome, Type 8
Pericardial effusion, Polydactyly, Talipes equinovarus, Ambiguous genitalia, Enlarged kidney OMIM:613885
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... ORPHA:3472
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... ORPHA:1788
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fing... ORPHA:435638
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... OMIM:171480
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Malformation of the hepatic duct... OMIM:614175
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Ventricular septal defect, Postaxial polydactyly, Splenomegaly, Chole... OMIM:614576
20P13 Microdeletion Syndrome
Finger syndactyly, Failure to thrive in infancy, Polydactyly, Decreased body weight, Clinodactyly... ORPHA:313781
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Sandhoff Disease
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Impotence OMIM:268800
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... ORPHA:555874
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Postaxial polydactyly, Micrognathia, Lower limb asymmetry, Cryptorchid... ORPHA:404440
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Lower limb muscle weakness, Limited el... ORPHA:268
Prader-Willi Syndrome
Decreased muscle mass, Small scrotum, Decreased response to growth hormone stimulation test, Exte... OMIM:176270
Lethal Acantholytic Erosive Disorder
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5... ORPHA:158687
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Coxa valg... ORPHA:1517
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop... OMIM:308050
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Facial diplegia, Testicular atrophy OMIM:160900
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... OMIM:263630
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Micrognathia, Bilateral cryptorchidism, Central Y-shaped metac... ORPHA:2754
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Pes planus, Brachydactyly, Overlapping toe, Single transvers... ORPHA:221120
Meacham Syndrome
Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Congenital diaphragmatic he... ORPHA:3097
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice... OMIM:208500
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Hypospadias, Tarsal synostosis, Short hallux, Camptodactyly of finger, ... ORPHA:90652
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly OMIM:600649
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Skeletal muscle autophagosome accumula... OMIM:300257
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Decreased muscle mass, Hypospadias, Decreased respo... ORPHA:96182
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Fucosidosis
Hepatomegaly, Absent/hypoplastic paranasal sinuses, Cardiomegaly, Coxa valga, Splenomegaly, Vacuo... OMIM:230000
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth, Atr... OMIM:619142
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder, Failure to thr... ORPHA:349
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly OMIM:607131
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cryptorchidism... OMIM:615849
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Hepatic cysts, Brachydactyly OMIM:613819
Charge Syndrome
Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation test, External ... OMIM:214800
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Talipes, Micromelia, Aplasia of the... ORPHA:2879
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... OMIM:618150
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Anemia, Cardiomegaly OMIM:618838
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... ORPHA:2911
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... ORPHA:3427
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Cardiomegaly, Hepatocellular necrosis, Periportal ... OMIM:201475
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Short Stature With Microcephaly And Distinctive Facies
Microretrognathia, Syndactyly, Short digit, Small for gestational age, Proximal placement of thum... OMIM:615789
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Hepatomegaly, Tapered toe, Tapered finger, Cardiomegaly, Long fingers, Abnormal foot mo... OMIM:608836
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Micrognathia, Splenomegaly, Hepatosplenomegaly, Anemia, Decreased bod... OMIM:608013
Cousin Syndrome
Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male... OMIM:260660
Tarp Syndrome
Finger syndactyly, Failure to thrive, Extramedullary hematopoiesis, Single transverse palmar crea... ORPHA:2886
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Microcytic anemia, Cardiomegaly, Elevated circulating thyroid-stimulatin... OMIM:256040
Hamamy Syndrome
Long toe, Syndactyly, Hypoparathyroidism, Atrial septal defect, Down-sloping shoulders, Tapered f... OMIM:611174
Craniofaciofrontodigital Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... ORPHA:363705
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Pedal edema, Atrial septal defect, Pa... ORPHA:439
Occipital Horn Syndrome
Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Aplastic clavic... ORPHA:198
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Failure to thrive, Postaxial polydactyly OMIM:615824
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Hydrometrocolpos, Obesity, Postaxial foot polydactyly, Polydactyly, H... OMIM:615989
Proteus Syndrome
Decreased muscle mass, Neoplasm of the thymus, Abnormal finger morphology, Clinodactyly of the 5t... ORPHA:744
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Vent... OMIM:607323
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Anteriorly displaced genita... OMIM:276820
Orofaciodigital Syndrome Type 4
Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand p... ORPHA:2753
Beck-Fahrner Syndrome
Pes planus, Facial hypotonia, Ventricular septal defect, Cardiomegaly, Hip dysplasia OMIM:618798
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy, Hypothyroidism OMIM:617713
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ... OMIM:265000
Meckel Syndrome, Type 2
Bowing of the long bones, Bile duct proliferation, Polydactyly, Postaxial hand polydactyly OMIM:603194
Miller-Dieker Lissencephaly Syndrome
Failure to thrive, Single transverse palmar crease, Micrognathia, Cryptorchidism, Abnormal heart ... OMIM:247200
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega... OMIM:614921
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased muscle glycogen content, Macroglossia, Firm m... OMIM:232300
Tarp Syndrome
Failure to thrive, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Mi... OMIM:311900
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna... OMIM:619879
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Hepatomegaly, Abnormal mitochondrial shape, Short femur, Hypospadias, Hepatic stea... ORPHA:17
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anis... OMIM:618278
Rubinstein-Taybi Syndrome 1
Plantar crease between first and second toes, Single transverse palmar crease, Premature thelarch... OMIM:180849
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ... OMIM:617866
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
3Mc Syndrome 3
Bifid scrotum, Diastasis recti, Cryptorchidism, Preaxial polydactyly, Micropenis, Radioulnar syno... OMIM:248340
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Anterior pituitary hypoplasia, Hypospadias, Ventri... ORPHA:464306
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Atrial sep... ORPHA:672
Carpenter Syndrome 2
Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Knee ... OMIM:614976
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... OMIM:210710
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab... ORPHA:3384
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Pes planus, Ventricular septal defect, Left ventricular noncompaction cardiomyopat... OMIM:300967
Retinitis Pigmentosa 51
Polydactyly, Obesity OMIM:613464
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal heart morphology, Right ventricular di... ORPHA:2041
Meckel Syndrome, Type 1
External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Asplenia, Ambiguous genitalia, fem... OMIM:249000
Bohring-Opitz Syndrome
Ulnar deviation of the wrist, Facial hypotonia, Cardiomegaly, Micrognathia, Bilateral wrist flexi... ORPHA:97297
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... ORPHA:96191
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Mend Syndrome
Microretrognathia, Overlapping toe, Broad hallux, Micrognathia, Long fingers, Cryptorchidism, 2-3... OMIM:300960
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... OMIM:304120
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal heart morphology, Polydactyly, Hepatosplenomegaly ORPHA:93400
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi... OMIM:263750
Robinow Syndrome
Small scrotum, External genital hypoplasia, Micrognathia, Clitoral hypoplasia, Atrial septal defe... ORPHA:97360
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Hepatomegaly, Ventricular septal defect, Micrognathia, Crypt... OMIM:620025
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Diastasis recti, Cardi... OMIM:130650
Orofaciodigital Syndrome V
Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Ventricular septal defect, Postaxia... OMIM:174300
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Hypertr... ORPHA:308552
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly OMIM:255120
Cranioectodermal Dysplasia 2
Syndactyly, Hepatomegaly, Rhizomelia, Cholangitis, Micrognathia, Splenomegaly, Postaxial hand pol... OMIM:613610
Tibial Hemimelia
Absent tibia OMIM:275220
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Lymphangioma OMIM:149000
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Hydrometrocolpos, ... OMIM:617088
Mosaic Trisomy 16
Syndactyly, Hypospadias, Single transverse palmar crease, Maternal diabetes, Ventricular septal d... ORPHA:1708
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Male ... ORPHA:140
Abetalipoproteinemia
Reticulocytosis, Hepatomegaly, Hepatic steatosis, Acanthocytosis, Cardiomegaly, Myopathy, Hepatic... ORPHA:14
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... ORPHA:268261
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Short 4th toe, Atrial septal ... OMIM:615873
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, Leiomyosarcoma, Hepatob... ORPHA:116
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short palm, Atrial septal defect, ... OMIM:312870
Senior-Loken Syndrome 8
Pancreatic cysts, Polydactyly, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Joubert Syndrome 23
Polydactyly OMIM:616490
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Degcags Syndrome
Micrognathia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Diaphragmatic eventration... OMIM:619488
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri... OMIM:300855
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... ORPHA:57777
Singleton-Merten Syndrome 1
Pes cavus, Hypoplastic distal radial epiphyses, Mitral valve calcification, Decreased body weight... OMIM:182250
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Avascular necrosis of the capital femoral epiphysis, Splenomegaly, Ad... ORPHA:581
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Polydactyly, Abnormality of the uterus, Complete duplicatio... ORPHA:59315
Lesch-Nyhan Syndrome
Testicular atrophy, Hip dislocation, Podagra, Megaloblastic anemia OMIM:300322
Joubert Syndrome 16
Polydactyly OMIM:614465
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Precocious puberty, Hypothyroidism, Insulin-resistan... ORPHA:769
Joubert Syndrome 27
Polydactyly OMIM:617120
Grange Syndrome
Syndactyly, Bicuspid aortic valve, Finger clinodactyly, Decreased body weight, Coronary artery st... OMIM:602531
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Increased hepatic glycogen content, Cardiomegaly OMIM:619259
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Down-sloping shoulders, Palmar pits, Plantar pits, Irregular ossification of han... OMIM:109400
X-Linked Intellectual Disability, Snyder Type
Long toe, Decreased muscle mass, Arachnodactyly, Hypospadias, Cryptorchidism, Slender toe, Abnorm... ORPHA:3063
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy... ORPHA:273
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Lymphocytosis, Elevated hepatic iron... OMIM:619991
Joubert Syndrome 39
Overweight, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Orofaciodigital Syndrome I
Microretrognathia, Syndactyly, Pancreatic cysts, Abnormal heart morphology, Short 2nd toe, Ovaria... OMIM:311200
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Cryptorchidism, Postaxial han... OMIM:236700
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Impotence, Cardiomegaly OMIM:105210
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... OMIM:218330
Adnp Syndrome
Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Cryptorchidis... ORPHA:404448
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Atrial septal defect, Wrist ... OMIM:268300
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Failure to thrive, Paranasal sinus hypoplasia, Arachnodactyly, Ventricular ... OMIM:300373
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Congenital diaphragmatic hernia, Preaxial p... OMIM:616546
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Fl... ORPHA:365
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Micrognathia, Polydactyly, Abnormal heart morphology ORPHA:314655
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty... OMIM:614099
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Aicardi-Goutières Syndrome
Myositis, Diabetes mellitus, Multiple joint contractures, Neonatal alloimmune thrombocytopenia, C... ORPHA:51
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Small scrotum, Single transverse palmar cre... OMIM:607932
Monosomy 9Q22.3
Ovarian fibroma, Rhabdomyosarcoma, Large for gestational age, Palmar pits, Plantar pits, Cardiac ... ORPHA:77301
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Patent foramen ovale, Syndactyly, Broa... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Patent foramen ovale, Syndactyly, Broa... ORPHA:353277
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... OMIM:619534
Stromme Syndrome
Accessory spleen, Myopathy, Preaxial polydactyly, Micrognathia OMIM:243605
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology... ORPHA:228308
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Clinodactyly of the 5th f... ORPHA:904
Mullegama-Klein-Martinez Syndrome
Pes planus, Facial palsy, Congenital diaphragmatic hernia, Micrognathia, Hypoplastic left heart, ... OMIM:301022
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries, Failure to thrive ORPHA:137675
Legius Syndrome
Acute monocytic leukemia, Ovarian neoplasm, Diaphyseal dysplasia, Mitral valve prolapse, Polydact... ORPHA:137605
Kinsship Syndrome
Pes planus, Single transverse palmar crease, Coxa valga, Micrognathia, Hip dislocation, Fibular h... OMIM:619297
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Cardiomegaly, Pedal edema, Abnormal heart morphology, Abnormal... ORPHA:980
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Ventricular septal defect, Mi... ORPHA:444077
Neurocardiofaciodigital Syndrome
Syndactyly, Failure to thrive, Small for gestational age, Double inlet left ventricle, Polydactyl... OMIM:619869
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... ORPHA:3404
Okamoto Syndrome
Ventricular septal defect, Talipes, Bifid uterus, Splenomegaly, Abnormal left ventricle morpholog... ORPHA:2729
Congenital Tracheomalacia
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... ORPHA:95430
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Vater/Vacterl Association
Syndactyly, Failure to thrive, Hypospadias, Ventricular septal defect, Absent radius, Short thumb... OMIM:192350
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... ORPHA:1677
Faciocardiomelic Syndrome
Large for gestational age, Micrognathia, Slender long bone, Polydactyly, Hypoplastic pelvis, Comm... OMIM:612731
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Pes planus, Bicuspid aortic valve, Arachnodactyly, Cardiomegaly ORPHA:91387
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Abnormality of the knee, Failure to thrive in infancy, Adrenal calcifica... ORPHA:51608
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Absence of Stensen duct, Aplasia of the parotid gland, Abse... OMIM:149730
Orofaciodigital Syndrome Xiv
Microretrognathia, Broad hallux, Ventricular septal defect, Micrognathia, Cryptorchidism, Postaxi... OMIM:615948
Retinitis Pigmentosa 74
Polydactyly, Obesity OMIM:616562
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Choanal Atresia
Polydactyly ORPHA:137914
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280

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 Arl16

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 Arl16.

No publications found that use IMPC mice or data for Arl16.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Arl16tm446246(L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Arl16em1(IMPC)Ccpcz Inter-exon deletion Mice
Arl16tm232368(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Arl16tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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