Gene Summary

Name:
protocadherin 18
Synonyms:
PCDH68L

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
shortened ST segment Pcdh18tm1.1(KOMP)Vlcg HOM Early adult 2.44×10-06
short tibia Pcdh18tm1.1(KOMP)Vlcg HOM Early adult 4.75×10-06
hyperactivity Pcdh18tm1.1(KOMP)Vlcg HOM   Early adult 9.66×10-05
corneal opacity Pcdh18tm1.1(KOMP)Vlcg HOM Early adult 4.40×10-06
increased lean body mass Pcdh18tm1.1(KOMP)Vlcg HOM Early adult 7.91×10-05
decreased thigmotaxis Pcdh18tm1.1(KOMP)Vlcg HOM   Early adult 9.63×10-05
decreased total body fat amount Pcdh18tm1.1(KOMP)Vlcg HOM Early adult 1.33×10-05
shortened QT interval Pcdh18tm1.1(KOMP)Vlcg HOM Early adult 5.83×10-05
syndactyly Pcdh18tm1.1(KOMP)Vlcg HOM Early adult 1.74×10-05
persistence of hyaloid vascular system Pcdh18tm1.1(KOMP)Vlcg HOM Early adult 5.92×10-14

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 50% (2 of 4)
Aorta  Wholemount images heterozygote 50% (2 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Brown adipose tissue  Section images heterozygote 25% (1 of 4)
Cecum  Section images heterozygote 75% (3 of 4)
Cerebellum  Wholemount images  Section images heterozygote 100% (4 of 4)
Chest bone  Wholemount images heterozygote 50% (2 of 4)
Colon  Wholemount images  Section images heterozygote 100% (4 of 4)
Duodenum  Wholemount images heterozygote 50% (2 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Esophagus  Wholemount images  Section images heterozygote 75% (3 of 4)
Gall bladder  Wholemount images heterozygote 50% (2 of 4)
Ileum  Wholemount images  Section images heterozygote 75% (3 of 4)
Jejunum  Wholemount images  Section images heterozygote 75% (3 of 4)
Kidney  Wholemount images heterozygote 50% (2 of 4)
Lung  Wholemount images heterozygote 50% (2 of 4)
Mesenteric adipose tissue  Wholemount images heterozygote 50% (2 of 4)
Mesenteric lymph node  Wholemount images heterozygote 50% (2 of 4)
Midbrain  Wholemount images  Section images heterozygote 100% (4 of 4)
Olfactory lobe  Wholemount images heterozygote 50% (2 of 4)
Ovary  Wholemount images heterozygote 25% (1 of 4)
Oviduct  Wholemount images heterozygote 25% (1 of 4)
Penis  Section images heterozygote 25% (1 of 4)
Pituitary gland  Wholemount images heterozygote 50% (2 of 4)
Quadriceps  Section images heterozygote 25% (1 of 4)
Skin  Wholemount images heterozygote 50% (2 of 4)
Spinal cord  Wholemount images heterozygote 50% (2 of 4)
Spleen  Wholemount images  Section images heterozygote 75% (3 of 4)
Stomach  Wholemount images  Section images heterozygote 100% (4 of 4)
Testis  Section images heterozygote 50% (2 of 4)
Thymus  Wholemount images heterozygote 50% (2 of 4)
Thyroid gland  Wholemount images heterozygote 50% (2 of 4)
Tongue  Wholemount images  Section images heterozygote 100% (4 of 4)
Trachea  Wholemount images  Section images heterozygote 75% (3 of 4)
Trigeminal V nerve  Section images heterozygote 50% (2 of 4)
Urinary bladder  Wholemount images  Section images heterozygote 100% (4 of 4)
Uterus  Wholemount images  Section images heterozygote 50% (2 of 4)
Vagina  Section images heterozygote 25% (1 of 4)
Vas deferens  Wholemount images  Section images heterozygote 50% (2 of 4)
Vesicular gland  Wholemount images  Section images heterozygote 50% (2 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Harderian gland N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (4 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (4 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

42 Images

X-ray

XRay Images Forepaw

13 Images

Adult LacZ

LacZ Images Section

78 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

2 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Pcdh18 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 Pcdh18 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win... OMIM:613507
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
15Q11Q13 Microduplication Syndrome
Attention deficit hyperactivity disorder, Finger syndactyly, Clinodactyly of the 5th finger, Comp... ORPHA:238446
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment ORPHA:1055
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Winchester Syndrome
Osteolysis involving tarsal bones, Broad metacarpals, Corneal opacity, Carpal osteolysis OMIM:277950
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syndactyly, Syncope, Aborted... OMIM:618447
Smith-Magenis syndrome
Hyperactivity, Brachydactyly, Self-mutilation, Motor stereotypy DECIPHER:8
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... OMIM:612422
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril... ORPHA:263297
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Abnormality of the hand, Anterior ... OMIM:605274
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia, Syndactyly, Atypical scarring o... ORPHA:294975
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Corneal opacity, Synostosis of carpal bones, Megalocornea, Micromelia,... ORPHA:2741
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Metacarpal osteolysis, Pes cavus, Congenital diaphragmatic hernia, Wrist swelling... OMIM:166300
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, C... ORPHA:2370
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Coloboma, Syndactyly, Brachydactyly, Peters anomaly, Clinodac... OMIM:610023
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Fraxe Intellectual Disability
Agitation, Clinodactyly of the 5th finger, Hyperactivity, Recurrent hand flapping, Compulsive beh... ORPHA:100973
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F... ORPHA:3329
Myofibrillar Myopathy 10
Ankle flexion contracture, Sandal gap, Prolonged QTc interval, Elbow flexion contracture, Increas... OMIM:619040
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Schizophrenia 15
Hyperactivity OMIM:613950
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Crossed Polysyndactyly
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb ORPHA:2935
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Congenital bilateral hip dislocation, Cataract, Small for gestational age, Talipes... ORPHA:85288
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Bardet-Biedl Syndrome 9
Polydipsia, Polydactyly, Bone spicule pigmentation of the retina, Astigmatism, Postaxial hand pol... OMIM:615986
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Talipes, Clinodacty... ORPHA:2557
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Obesity, Syndactyly, Attention deficit hyperactivity disorder, Ta... OMIM:618725
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microcornea, Corneal opacity ORPHA:2432
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli... OMIM:610140
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Single transverse palmar crease, Oligo... OMIM:201170
Morm Syndrome
Hyperactivity, Retinal atrophy, Cataract, Truncal obesity, Aggressive behavior ORPHA:75858
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Cachexia, Prolonged QRS complex, Pulmonary venous hypertension,... ORPHA:75565
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Prolonged QT interval, Prominent U wave, Shor... OMIM:170390
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Bilateral coxa valga, Hypertrophic cardiomyopathy, Obesity, Aggressive behavior OMIM:620270
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... OMIM:183600
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Large for gestational age, Abnormal QRS complex, Reduced le... ORPHA:45452
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge... ORPHA:2141
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Supraventricular arrhythmia, Transient ischemic attack, Pulmonary arterial h... ORPHA:99103
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Bardet-Biedl Syndrome 5
Polydactyly, Obesity, Syndactyly, Brachydactyly OMIM:615983
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Parathyroid Carcinoma
Polydipsia, Lipoma, Shortened QT interval, Dysphagia, Weight loss, Chondrocalcinosis ORPHA:143
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabular roof, Co... OMIM:271530
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow... ORPHA:1106
Dermoids Of Cornea
Corneal opacity OMIM:304730
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Syndactyly OMIM:615938
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Abnormal cornea morpholo... ORPHA:65759
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Dysphagia ORPHA:94125
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Megalocornea, ... OMIM:164900
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Retinal atrophy, Short long bone, Short metacarpal, Corneal opacity... ORPHA:85167
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Lipoma, Shortened QT interval, Dysphagia, Chondrocalcinosis ORPHA:99880
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Bruxism, Hip dislocation, Short foot, Talipes equinovarus, Small hand OMIM:300434
Chromosome 3Q29 Deletion Syndrome
Clinodactyly of the 5th finger, Hyperactivity, Tapered finger, Failure to thrive, Long fingers, M... OMIM:609425
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones OMIM:600384
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Clinodactyly, Hyperactivity OMIM:300928
Andersen-Tawil Syndrome
Torsade de pointes, Clinodactyly of the 5th toe, Polymorphic ventricular tachycardia, Prolonged Q... ORPHA:37553
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormality of the lower limb, Camptod... OMIM:300244
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma... ORPHA:1473
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Muscular Dystrophy, Becker Type
Calf muscle pseudohypertrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia OMIM:300376
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Orofaciodigital Syndrome Ix
Camptodactyly, Retinal coloboma, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Prolonged QT interval, Concentric hypertrophic cardiomyopathy, Pterygiu... OMIM:618052
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:3268
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Galactosialidosis
Corneal opacity ORPHA:351
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, Flexion contra... OMIM:618815
Mucolipidosis Type Iii
Abnormal hip bone morphology, Inguinal hernia, Corneal opacity, Large iliac wing, Hypoplastic inf... ORPHA:577
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Res... ORPHA:88630
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Abnormal digit morphology, Aggressive beh... ORPHA:208441
Eiken Syndrome
Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, Broad palm, Abnormal acetabu... ORPHA:79106
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Developmental Delay, Language Impairment, And Ocular Abnormalities
Inguinal hernia, Myopic astigmatism, Hyperactivity, Impulsivity, Frequent temper tantrums, Pulmon... OMIM:620141
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Palmoplantar keratoderma, Ventricular arrhythmia, Ventricular t... OMIM:611528
Wagro Syndrome
Agitation, Aniridia, Emotional lability, Low frustration tolerance, Hypertension, Corneal opacity... OMIM:612469
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Usmani-Riazuddin Syndrome, Autosomal Dominant
Short finger, Clinodactyly of the 5th finger, Hyperactivity, Depression, 2-3 toe syndactyly, Comp... OMIM:619467
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t... ORPHA:370010
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Fai... OMIM:610198
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ... OMIM:225280
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
2-3 toe cutaneous syndactyly, Prolonged QT interval, 3-4 finger cutaneous syndactyly, Optic nerve... OMIM:620029
Erythrokeratodermia Variabilis
Corneal opacity, Patchy palmoplantar hyperkeratosis, Brachydactyly, Weight loss, Cataract, Tapere... ORPHA:317
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Timothy Syndrome
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... OMIM:601005
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Y-shaped metatarsals, Inguinal hernia, Keratoconus, Postaxial hand polydactyl... OMIM:175700
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion... OMIM:310300
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Slc35A2-Cdg
Abnormality of the hand, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Apl... ORPHA:356961
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Bardet-Biedl Syndrome 4
Polydactyly, Obesity, Syndactyly, Brachydactyly, Retinal degeneration OMIM:615982
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Agitation, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, Corne... OMIM:152950
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Prolonged QT in... ORPHA:57777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Cataract, Joint contracture, Prolonged QT interval OMIM:615351
Pseudohypoparathyroidism Type 1B
Irritability, Prolonged QT interval, Diaphyseal sclerosis, Depression, Cortical subperiosteal res... ORPHA:94089
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short long bone, Short ribs, Corneal opacity, Coarse metaphyseal trabecularization, Metaphyseal w... OMIM:618961
Multiple Endocrine Neoplasia Type 1
Hematemesis, Anorexia, Melena, Depression, Hypertension, Shortened QT interval, Weight loss, Mult... ORPHA:652
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Retinal detachment, Short ribs, Failure to thri... OMIM:607143
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Stickler Syndrome Type 2
Retinal detachment, Corneal opacity, Cataract ORPHA:90654
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Femoral bowing, Retinal atrophy, Tibial bowing, Short long bone, Sh... OMIM:608940
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broa... ORPHA:380
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Autoimmune Hypoparathyroidism
Irritability, Prolonged QT interval, Depression, Ventricular arrhythmia, Conjunctivitis, Cataract... ORPHA:36913
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Obesity, Cone-shaped epiphyses of the toes, ... ORPHA:397973
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes ORPHA:90647
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradycardia OMIM:617182
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hyperactivity, Elbow flexion contracture, Motor stereotypy, Aggressive behavior OMIM:619470
Rett Syndrome
Prolonged QTc interval, Cachexia, Stereotypical hand wringing, Bruxism, Short foot, Abnormal T-wave OMIM:312750
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Absent distal phalanges, Corneal opacity, 2-5 finger cut... OMIM:619339
Pseudohypoparathyroidism Type 1C
Short 4th metacarpal, Irritability, Prolonged QT interval, Short metatarsal, Depression, Short fi... ORPHA:79444
Harel-Yoon Syndrome
Optic atrophy, Corneal opacity, Hypertrophic cardiomyopathy, Micrognathia, Developmental cataract... OMIM:617183
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Acropectorovertebral Dysplasia
Finger syndactyly, Synostosis of carpal bones, Broad thumb, Radial deviation of the 2nd finger, B... OMIM:102510
Proximal Symphalangism
Tarsal synostosis, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormality of... ORPHA:3250
Boomerang Dysplasia
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd... ORPHA:1263
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Pes cavus, Abnormal EKG, Dysphagia, Decreased/absent ankle reflexes ORPHA:1177
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Talipes, Clinodactyly of the 5th finger ORPHA:376
Chromosome 2Q37 Deletion Syndrome
Type E brachydactyly, Hyperactivity, Short metacarpal, Stereotypical hand wringing, Short fourth ... OMIM:600430
Aarskog-Scott Syndrome
Congestive heart failure, Talipes, Clinodactyly of the 5th finger, Inguinal hernia, Genu recurvat... ORPHA:915
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankylosis of feet small joints, Thin metacarpal cortices, Corneal opacity, Wrist flexion contract... OMIM:259600
Morquio Syndrome C
Corneal opacity OMIM:252300
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia ORPHA:2151
Scorpion Envenomation
Myocarditis, Congestive heart failure, Mydriasis, Prominent U wave, Hypertension, Premature ventr... ORPHA:466677
Hypomelanosis Of Ito
Radial deviation of finger, Hand polydactyly, Syndactyly, Cataract, Clinodactyly, Iris coloboma OMIM:300337
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Genu valgum, Delayed epiphyseal ossification, Cutaneous syndactyly, Clinod... ORPHA:166024
Anterior Segment Dysgenesis 2
Aniridia, Coloboma, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye apl... OMIM:610256
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Hyperactivity, Impulsivity, External tibial torsion, Coxa vara, Facial telangiectasia, Talipes eq... OMIM:620445
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Phenylketonuria
Irritability, Hyperactivity, Depression, Compulsive behaviors, Cataract, Attention deficit hypera... OMIM:261600
Sclerosteosis
Optic atrophy, Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved dista... ORPHA:3152
Short Syndrome
Abnormal anterior chamber morphology, Inguinal hernia, Abnormal dental enamel morphology, Corneal... ORPHA:3163
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Hyperactivity, Compulsive behaviors, Motor tics, Attention deficit hyperactivity dis... OMIM:619927
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Coloboma, Microcornea, Abnorma... ORPHA:2334
Gand Syndrome
Hyperactivity, Long fingers, Inappropriate laughter, Tics, Long toe OMIM:615074
Summitt Syndrome
Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Short palm,... ORPHA:3210
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ... OMIM:113000
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Corneal ulceration, Hyperactivity, Emotional lability, Autoamputation... OMIM:256800
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Mucolipidosis Iv
Optic atrophy, Opacification of the corneal stroma, Retinal degeneration, Corneal opacity OMIM:252650
Pseudohypoparathyroidism Type 1A
Short 4th metacarpal, Irritability, Prolonged QT interval, Short metatarsal, Depression, Band ker... ORPHA:79443
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb bone morphology, ... ORPHA:2788
Intellectual Developmental Disorder, Autosomal Recessive 38
Sandal gap, Hyperactivity, Recurrent hand flapping, Blue irides, Self-mutilation, Aggressive beha... OMIM:615516
Scheie Syndrome
Pes cavus, Genu valgum, Aortic regurgitation, Corneal opacity, Aortic valve stenosis, Mitral sten... OMIM:607016
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Congestive heart failure, Irritability, Abnormal fear-induced behavior, Hyperactivity, ... ORPHA:3077
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... ORPHA:171673
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Carpenter Syndrome 1
Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Umbilica... OMIM:201000
Mucopolysaccharidosis, Type Ivb
Grayish enamel, Genu valgum, Inguinal hernia, Epiphyseal deformities of tubular bones, Corneal op... OMIM:253010
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Elbow disl... ORPHA:56305
Al-Gazali Syndrome
Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Corneal opacity, ... OMIM:609465
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Aminopterin Syndrome Sine Aminopterin
Inguinal hernia, Decreased body weight, Umbilical hernia, Arachnodactyly, Rudimentary postaxial p... OMIM:600325
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Triphalangeal thumb, Abnormal metacarpal morphology, Finger synda... ORPHA:392
Microphthalmia With Brain And Digit Anomalies
Proximal placement of thumb, Finger syndactyly, Microcornea, Sclerocornea, Chorioretinal coloboma... ORPHA:139471
Cri-Du-Chat Syndrome
Optic atrophy, Short metatarsal, Inguinal hernia, Hyperactivity, Self-mutilation, Single transver... OMIM:123450
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Short ribs, Corneal opacity, Hypoplastic pelvis, Split foot, Upp... ORPHA:2092
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
Laurence-Moon Syndrome
Bilateral single transverse palmar creases, Finger syndactyly, Hand polydactyly, Obesity, Brachyd... ORPHA:2377
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Bent Bone Dysplasia Syndrome 2
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor... OMIM:620076
Hereditary Bullous Dystrophy, Macular Type
Short finger, Corneal opacity, Heart murmur, Cataract, Tapered finger ORPHA:1867
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Gitelman Syndrome
Polydipsia, Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment dep... ORPHA:358
Moebius Syndrome
Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Ar... OMIM:157900
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Bartsocas-Papas Syndrome
Popliteal pterygium, Talipes, Finger syndactyly, Corneal opacity, Aplasia/Hypoplasia of the dista... ORPHA:1234
Congenital Sialidosis Type 2
Optic atrophy, Polydactyly, Inguinal hernia, Corneal opacity, Developmental cataract, Umbilical h... ORPHA:93400
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Optic nerve hypoplasia, Corneal opacity, Hypertrophic cardiomyopathy, Micrognathia... ORPHA:496790
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Aplasia/Hypoplasia of the scapulae,... ORPHA:2839
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Microcornea, Corneal opacity, Persistent pupillary mem... ORPHA:91495
Familial Hyperaldosteronism Type Iii
Polydipsia, Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Rubinstein-Taybi Syndrome 2
Short 5th toe, Short first metatarsal, Hyperactivity, Prominent fingertip pads, Broad thumb, Micr... OMIM:613684
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Temtamy Preaxial Brachydactyly Syndrome
Radial deviation of finger, Clinodactyly of the 2nd finger, Abnormal optic disc morphology, Optic... ORPHA:363417
Oculomaxillofacial Dysostosis
Corneal opacity, Abnormality of the humerus, Camptodactyly of finger, Micrognathia, Brachydactyly... ORPHA:1794
Distal Deletion 6P
Abnormal anterior chamber morphology, Clinodactyly of the 5th finger, Corneal opacity, Hypoplasia... ORPHA:96125
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Talipes, Finger syndactyly, Corneal opacity, Missing ribs, Conge... ORPHA:1647
Dpagt1-Cdg
Optic atrophy, Emotional blunting, Astigmatism, Prolonged QT interval, Head-banging, Camptodactyl... ORPHA:86309
Omodysplasia 1
Limited elbow extension, Popliteal pterygium, Fibular hypoplasia, Limited knee flexion/extension,... OMIM:258315
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... OMIM:620662
17Q24.2 Microdeletion Syndrome
Abnormality of the wrist, Prolonged QT interval, Cubitus valgus, Upper limb undergrowth, Emotiona... ORPHA:529962
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Chorioretinal colobom... ORPHA:231736
Alpha-Mannosidosis
Inguinal hernia, Corneal opacity, Bowing of the long bones, Hypoplastic inferior ilia, Hip dyspla... ORPHA:61
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Overlapping fingers, Astigmatism, Deep palmar crease, Talipes equinovarus, Op... OMIM:301056
Isolated Split Hand-Split Foot Malformation
Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand ORPHA:2440
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
16P12.1P12.3 Triplication Syndrome
Nail-biting, Hyperactivity, 2-3 toe syndactyly, Prominent fingertip pads, Attention deficit hyper... ORPHA:485405
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Hyperactivity, Short metacarpal, Short phalanx of finger, Obesity, Brachydactyl... OMIM:614613
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Grange Syndrome
Short palm, Hypertension, Aortic regurgitation, Syndactyly ORPHA:79094
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short ribs, F... OMIM:616300
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Remnants of the hyaloid vascular system, Per... OMIM:221900
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Cardiomyopathy, Familial Hypertrophic, 8
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... OMIM:608751
Monosomy 5P
Finger syndactyly, Inguinal hernia, Microretrognathia, Small hand ORPHA:281
Femoral-Facial Syndrome
Abnormal fibula morphology, Inguinal hernia, Abnormal pelvic girdle bone morphology, Coxa vara, A... ORPHA:1988
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Hallux valgus, Motor stereotypy, Aggressive behavior OMIM:615541
Brittle Cornea Syndrome 2
Inguinal hernia, Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocorn... OMIM:614170
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Corneal opacity, Abnormality of retinal pigmentation, Cataract, A... ORPHA:290
Sialidosis Type 2
Inguinal hernia, Corneal opacity, Flexion contracture, Umbilical hernia, Pedal edema ORPHA:87876
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Tibial bowing, Fo... ORPHA:314795
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyl... OMIM:605282
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... OMIM:186500
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Obsessive-compulsive trait, Broad distal phalanx of finger, Astigmatism, Hyperactivity, Optic ner... ORPHA:363686
Neonatal Lupus Erythematosus
Heart block, Prolonged QT interval, Arrhythmia, Atrioventricular block, Dilated cardiomyopathy, A... ORPHA:398124
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Corneal opacity, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hyp... OMIM:274000
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
Cerebral Creatine Deficiency Syndrome 1
Pes cavus, Prolonged QT interval, Failure to thrive, Motor stereotypy, Attention deficit hyperact... OMIM:300352
Atrial Septal Defect, Ostium Primum Type
Third heart sound, Right-to-left shunt, Pulmonary arterial hypertension, Systolic heart murmur, F... ORPHA:99106
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar kerato... ORPHA:2251
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Bradycardia, Atrial fibrillation, Failure to thrive, Dysphagia, Lipodystro... OMIM:613327
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Opacification of the corneal stroma, Short femoral neck OMIM:271630
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Moebius Syndrome
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... ORPHA:570
Acrootoocular Syndrome
Short finger, Grayish enamel, Sandal gap, Short metacarpal, Short foot, Small thenar eminence, Ch... ORPHA:2980
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror ima... OMIM:119800
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormality of the hand, Agitation, Abnormal foot morphology, Ocular anterior segment dysgenesis,... ORPHA:369891
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Aortic regurgitation, Inguinal hernia, Short ribs, Cardiomyopathy, Short ... OMIM:252600
Charlie M Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Micrognathia,... ORPHA:1406
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Pulmonic stenosis, Arachnodactyly, Slender build, Motor s... OMIM:617600
Pelvis-Shoulder Dysplasia
Clinodactyly of the 5th finger, Hypoplastic acetabulae, Short clavicles, Hypoplastic ilia, Congen... OMIM:169550
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism, Macular degeneration, Enamel hypoplasia, Fl... OMIM:270200
Hurler-Scheie Syndrome
Aortic regurgitation, Inguinal hernia, Corneal opacity, Pulmonary arterial hypertension, Umbilica... OMIM:607015
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... ORPHA:2751
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Hurler Syndrome
Diaphyseal undertubulation, Aortic regurgitation, Inguinal hernia, Short clavicles, Cardiomyopath... OMIM:607014
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Hurler-Scheie Syndrome
Corneal opacity, Hernia, Cardiomyopathy ORPHA:93476
Weaver Syndrome
Abnormal metaphysis morphology, Pes cavus, Sandal gap, Inguinal hernia, Finger syndactyly, Broad ... ORPHA:3447
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Coloboma, Corneal opacity, Cataract OMIM:613153
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Broad thum... ORPHA:957
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of all phalanges of finger... OMIM:601356
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... ORPHA:96334
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... ORPHA:166119
Dyschondrosteosis-Nephritis Syndrome
Madelung deformity, Ulnar bowing, Corneal opacity, Micromelia, Aplasia/Hypoplasia of the radius, ... ORPHA:1765
Neurodegeneration And Seizures Due To Copper Transport Defect
Talipes equinovarus, Short femur, Short tibia, Tricuspid regurgitation OMIM:620306
Camptobrachydactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... ORPHA:1319
Neuralgic Amyotrophy
Upper limb amyotrophy, Scapular winging, Syndactyly ORPHA:2901
Gm1 Gangliosidosis
Optic atrophy, Congestive heart failure, Abnormal metaphysis morphology, Abnormal diaphysis morph... ORPHA:354
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Optic nerve hypoplasia, Abnormal femoral head morpho... ORPHA:536471
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Corneal opacity, Developmental cataract, Adducted thumb, Hernia, Talipes eq... OMIM:616603
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Ventricular fibrillation, Obesity, Atrioventricular block, Arrhythmia, Tac... ORPHA:26793
Curry-Jones Syndrome
Finger syndactyly, Foot polydactyly, Broad thumb, Abnormality of thumb phalanx, Optic disc colobo... ORPHA:1553
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Midline cen... OMIM:603671
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Incontinentia Pigmenti
Congestive heart failure, Retinal detachment, Finger syndactyly, Abnormal dental enamel morpholog... ORPHA:464