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
corneal opacity Pcdh18tm1.1(KOMP)Vlcg HOM Early adult 1.05×10-06
increased lean body mass Pcdh18tm1.1(KOMP)Vlcg HOM Early adult 8.13×10-05
decreased total body fat amount Pcdh18tm1.1(KOMP)Vlcg HOM Early adult 1.40×10-05
persistence of hyaloid vascular system Pcdh18tm1.1(KOMP)Vlcg HOM Early adult 5.51×10-14
short tibia Pcdh18tm1.1(KOMP)Vlcg HOM Early adult 4.75×10-06
hyperactivity Pcdh18tm1.1(KOMP)Vlcg HOM   Early adult 5.19×10-05
syndactyly Pcdh18tm1.1(KOMP)Vlcg HOM   Early adult 1.03×10-08
shortened ST segment Pcdh18tm1.1(KOMP)Vlcg HOM Early adult 3.01×10-06
shortened QT interval Pcdh18tm1.1(KOMP)Vlcg HOM Early adult 4.36×10-05

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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 50% (2 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 Not available
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 Not available
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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
vesicular gland 0.0%
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 Section

78 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

42 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... ORPHA:3246
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly OMIM:186100
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... OMIM:201020
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Cutaneous finger syndactyly, Proxim... OMIM:185750
Leri-Weill Dyschondrosteosis
Madelung deformity, Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Increased carry... OMIM:127300
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... OMIM:246570
Wahab Syndrome
Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Camptodactyly,... OMIM:615170
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Bilateral single transverse palmar creases, Cli... ORPHA:1891
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Syndactyly Type 5
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... ORPHA:93406
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal opacity, Ataxia, Corneal dystrophy ORPHA:3177
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Syndactyly Type 3
Short toe, Camptodactyly of finger, Finger syndactyly ORPHA:93404
Winchester Syndrome
Osteolysis involving bones of the feet, Corneal opacity, Osteolysis involving bones of the upper ... OMIM:277950
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis OMIM:263450
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
15Q11Q13 Microduplication Syndrome
Ataxia, Attention deficit hyperactivity disorder, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Bil... ORPHA:1972
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Madelung deformity, Broad ulna, Hypoplasia of the radius, Mesomelia,... OMIM:249700
Endove Syndrome, Limb-Only Type
Triangular tibia, Umbilical hernia, Absent proximal finger flexion creases, 3-4 finger syndactyly... OMIM:619217
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Insulin-Like Growth Factor I Deficiency
Micrognathia, Radial deviation of finger, Hyperactivity, Decreased body weight, Clinodactyly OMIM:608747
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... OMIM:605289
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Brachydactyly Type A7
Broad phalanges of the 2nd toe, Hallux valgus, 2-3 toe syndactyly, Short hallux, Short middle pha... ORPHA:93397
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Small for gestational age, Atypical scarring of skin, Syndactyly, Upper limb phocome... ORPHA:294975
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Brachydactyly, Type A2
Hallux valgus, 2-3 toe syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Ap... OMIM:112600
Ophthalmomandibulomelic Dysplasia
Aplasia/Hypoplasia of the radius, Symphalangism affecting the phalanges of the hand, Radioulnar d... ORPHA:2741
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular tachycardia, Cardiomyopathy, Shoulder girdle muscle weakness, Right bun... ORPHA:263297
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Iris coloboma, Brachydactyly, Syndactyly, Coloboma, Clinodactyly, Ocular anterior... OMIM:610023
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome, Arrhyt... OMIM:617182
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Prolonged QTc interval, Knee flexion contractur... OMIM:619040
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Popliteal pterygium, Abnormality of femur morphology, Patellar aplasia, Fibular hypo... ORPHA:3329
Liebenberg Syndrome
Elbow flexion contracture, Metaphyseal widening, Radially deviated wrists, 2-3 finger syndactyly,... OMIM:186550
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Metacarpal synostosis, Symp... ORPHA:157801
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Recessive Mitochondrial Ataxia Syndrome
Gait disturbance, Dysmetria, Limb dysmetria, Ataxia, ST segment elevation ORPHA:94125
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormality of the metaphysis, Brachydactyly, Corneal opacity, Hip dysplasia, Abnormality of pelv... ORPHA:2370
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly, Brac... OMIM:610140
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... OMIM:601376
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Syndactyly, Type V
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... OMIM:186300
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly, Finger syndactyly ORPHA:2935
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Large for gestatio... ORPHA:45452
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Abnormal dental enamel mor... OMIM:601559
Mietens Syndrome
Metatarsus adductus, Elbow ankylosis, Talipes, Sclerocornea, Avascular necrosis of the capital fe... ORPHA:2557
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Syncope, Toe syndactyly, Bidirectional ventricular ectopy, Prolonged QT interva... OMIM:170390
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Large for gestational age ORPHA:2432
Tropical Endomyocardial Fibrosis
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... ORPHA:75565
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Split-Hand/Foot Malformation 1
Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad hallux, Foot ... OMIM:183600
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602087
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Brachydactyly Type B
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... ORPHA:93383
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Split-Hand/Foot Malformation 6
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot OMIM:225300
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy, Calf muscle pseudohypertrophy OMIM:300376
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Talipes equinovarus, Congenital bilateral hip dislocation, Hyperactivi... ORPHA:85288
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Omphalocele, Abnormality of femur morphology, Abnormality of t... ORPHA:2141
Brachydactyly Type B2
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... ORPHA:140908
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602086
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Bardet-Biedl Syndrome 5
Obesity, Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Dermoids Of Cornea
Corneal opacity OMIM:304730
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Optic atrophy, Prolonged QT interval, Noncompaction cardiomyopathy, Nonpr... OMIM:610198
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... ORPHA:97292
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Fibular hypoplasia, Radioulnar dislocation, Ul... OMIM:164900
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly, Aplasia/Hypoplasia of toe OMIM:600384
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect... ORPHA:93409
Terminal Osseous Dysplasia
Mesomelic leg shortening, Abnormality of the lower limb, Abnormal hand bone ossification, Mesomel... OMIM:300244
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Madelung deformity, Short tibia OMIM:127350
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, 3-4... OMIM:609432
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Broad thumb, Obesity, Finger syndactyly, Genu v... ORPHA:65759
Immunodeficiency 8
Hyperactivity OMIM:615401
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Tapered finger, Attention deficit hyperactivity disorder, Syndactyly, Obesity, Clinodactyly of th... OMIM:618725
Scheie Syndrome
Retinal degeneration, Aortic regurgitation, Genu valgum, Pes cavus, Corneal opacity, Aortic valve... OMIM:607016
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Retinal detachment, ... ORPHA:1473
Split-Hand/Foot Malformation 2
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot OMIM:313350
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Timothy Syndrome
Cutaneous syndactyly, Syndactyly, Prolonged QT interval, Bradycardia OMIM:601005
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Small for gestational age, Failure to thrive, Rhizomelia, Short ribs, Hypopl... OMIM:607143
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Bardet-Biedl Syndrome 6
Obesity, Syndactyly, Polydactyly OMIM:605231
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Metaphyseal irregularity, Brachydactyly, Coloboma, Short phalanx of finger, Sho... ORPHA:85167
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... ORPHA:370010
Smith-Magenis syndrome
Hyperactivity, Brachydactyly DECIPHER:8
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy, Clinodactyly OMIM:300928
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... OMIM:258860
Eiken Syndrome
Abnormal acetabulum morphology, Limited elbow flexion, Broad palm, Narrow pelvis bone, Metaphysea... ORPHA:79106
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Galactosialidosis
Corneal opacity ORPHA:351
Orofaciodigital Syndrome Ix
Toe syndactyly, Retinal coloboma, Hand polydactyly, Camptodactyly, Short tibia OMIM:258865
Bardet-Biedl Syndrome 9
Retinal degeneration, Polydactyly, Postaxial polydactyly, Obesity, Bone spicule pigmentation of t... OMIM:615986
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of the elbow, Radioulnar synostosis ORPHA:3268
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Morm Syndrome
Hyperactivity, Truncal obesity, Cataract, Retinal atrophy ORPHA:75858
Microphthalmia With Limb Anomalies
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... ORPHA:1106
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Opacification of the corneal stroma, Recurrent corn... ORPHA:98960
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation OMIM:618052
Mucolipidosis Type Iii
Hypoplastic inferior ilia, Corneal opacity, Large iliac wing, Abnormal hip bone morphology, Ingui... ORPHA:577
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Corneal... OMIM:618815
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Genu varum, Short middle phalanx of finger, Irregu... OMIM:156500
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Limbal Stem Cell Deficiency
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... ORPHA:171673
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger OMIM:314360
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Brachydactyly, Type B2
Tarsal synostosis, Cutaneous finger syndactyly, Proximal symphalangism of hands, Absent phalangea... OMIM:611377
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Rett Syndrome
Dystonia, Cachexia, Abnormal T-wave, Prolonged QTc interval, Short foot, Truncal ataxia, Gait ata... OMIM:312750
Mesomelic Dysplasia, Nievergelt Type
Tarsal synostosis, Abnormality of the ulna, Genu varum, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:2633
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Spinocerebellar Degeneration And Corneal Dystrophy
Ataxia, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Mucolipidosis Iv
Dystonia, Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma OMIM:252650
Parathyroid Carcinoma
Shortened QT interval, Chondrocalcinosis, Weight loss, Lipoma ORPHA:143
Stickler Syndrome Type 2
Retinal detachment, Corneal opacity, Cataract ORPHA:90654
Proximal Symphalangism
Tarsal synostosis, Elbow ankylosis, Metacarpophalangeal synostosis, Synostosis of carpal bones, F... ORPHA:3250
Summitt Syndrome
Obesity, Syndactyly OMIM:272350
Acropectorovertebral Dysplasia
Toe syndactyly, Capitate-hamate fusion, Bifid distal phalanx of the thumb, Synostosis of carpal b... OMIM:102510
Bardet-Biedl Syndrome 4
Retinal degeneration, Polydactyly, Syndactyly, Obesity, Brachydactyly OMIM:615982
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... ORPHA:2788
Brachyolmia Type 1, Toledo Type
Gait disturbance, Opacification of the corneal stroma, Short femoral neck, Broad tibial metaphyses OMIM:271630
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Metaphyseal widening, Limb undergrowth, Short ribs, Coarse metaphyseal trabecularization, Corneal... OMIM:618961
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia ORPHA:2151
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Fatco Syndrome
Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ... ORPHA:2492
Boomerang Dysplasia
Omphalocele, Abnormality of the ulna, Abnormality of femur morphology, Finger syndactyly, Abnorma... ORPHA:1263
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Tapered finger, Weight loss, Corneal opacity, Cataract, Brach... ORPHA:317
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Cataract, Flexion contracture OMIM:615351
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Tapered finger, Failure to thrive, Long fingers, Hyperactivity, Clinod... OMIM:609425
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the 4th toe, Cone-s... ORPHA:397973
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Talipes equinovarus, Small hand, Hyperactivity, Short foot, Hip dislocation OMIM:300434
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Toe syndactyly, Broad thumb, Congenital diaphragmatic hernia, Finger syndac... ORPHA:380
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Syndactyly, Abnormal pelvis bone morphology, Abnormal foot... ORPHA:1505
Mend Syndrome
2-3 toe syndactyly, Microretrognathia, Polydactyly, Long fingers, Hyperactivity, Overlapping fing... OMIM:300960
Morquio Syndrome C
Corneal opacity OMIM:252300
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Chondrocalcinosis, Lipoma ORPHA:99880
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Microcephaly-Micromelia Syndrome
Abnormality of the hand, Micrognathia, Talipes equinovarus, Absent radius, Forearm undergrowth, O... OMIM:251230
Slc35A2-Cdg
Metatarsus adductus, Limb joint contracture, Failure to thrive in infancy, Talipes equinovarus, A... ORPHA:356961
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation ORPHA:90647
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Pes planus, Protrusio acetabuli, Distal tapering of metatarsals, Gait disturbanc... OMIM:259600
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Laurence-Moon Syndrome
Finger syndactyly, Iris coloboma, Ataxia, Bilateral single transverse palmar creases, Cataract, H... ORPHA:2377
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Adducted thumb, Talipes equinovarus, Aortic regurgitation, Hernia, Hip di... OMIM:616603
Sclerosteosis
Optic atrophy, Diaphyseal thickening, Finger syndactyly, Curved distal phalanges of the hand, 2-3... ORPHA:3152
Gómez-López-Hernández Syndrome
Ataxia, Corneal opacity ORPHA:1532
Gordon Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Camptodactyly of finger, Talipes ORPHA:376
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Joint contracture of the hand, Aplas... OMIM:113000
Congenital Sialidosis Type 2
Telangiectasia, Optic atrophy, Developmental cataract, Polydactyly, Dysmetria, Inguinal hernia, A... ORPHA:93400
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive gait ataxia, Decreased/absent ankle reflexes, Progressive cerebellar ataxia, Pes cavu... ORPHA:1177
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Diaphyseal sclerosis, Laryngeal dystonia, Enamel hypoplasia, Cataract, Cor... ORPHA:94089
Filippi Syndrome
Dystonia, Optic atrophy, 2-4 toe syndactyly, Decreased body weight, Finger clinodactyly, Cutaneou... OMIM:272440
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Mydriasis, Cardia... ORPHA:466677
Short Syndrome
Hypoplasia of the iris, Posterior embryotoxon, Weight loss, Lipodystrophy, Abnormal dental enamel... ORPHA:3163
Brittle Cornea Syndrome 2
Decreased corneal thickness, Gait disturbance, Flat cornea, Umbilical hernia, Sclerocornea, Kerat... OMIM:614170
Hypomelanosis Of Ito
Iris coloboma, Radial deviation of finger, Syndactyly, Cataract, Hand polydactyly, Clinodactyly OMIM:300337
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinod... ORPHA:166024
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Laryngeal dystonia ORPHA:94090
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal opacity, Corneal erosion OMIM:608470
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Hypertension, Multiple lipomas, Weight loss, Melena, Hematemesis, Lethargy ORPHA:652
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Aarskog-Scott Syndrome
Broad palm, Talipes, Small hand, Pes planus, Genu recurvatum, Finger syndactyly, Broad foot, Clin... ORPHA:915
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Hyperactivity, Coloboma, Lethargy OMIM:274270
Summitt Syndrome
Finger syndactyly, Genu valgum, Camptodactyly of finger, Short palm, Obesity, Clinodactyly of the... ORPHA:3210
Isolated Split Hand-Split Foot Malformation
Aniridia, Split hand, Absent hand, Finger syndactyly, Oligodactyly ORPHA:2440
Blount Disease
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... ORPHA:2768
Pelvis-Shoulder Dysplasia
Talipes equinovarus, Retinal coloboma, Prominent protruding coccyx, Fifth finger distal phalanx c... ORPHA:2839
Cirrhotic Cardiomyopathy
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... ORPHA:57777
Autoimmune Hypoparathyroidism
Prolonged QT interval, Ventricular arrhythmia, Laryngeal dystonia, Cataract, Abnormal left ventri... ORPHA:36913
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Proximal placement of thumb, Hy... OMIM:609945
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Micrognathia, Positional foot deformity, Optic nerve ... ORPHA:496790
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Syndactyly, Camptodactyly, Joint contracture of the hand, Split hand OMIM:225280
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Micrognathia, Small hand, Antecubital pterygium, Corneal opacity, Absent dis... OMIM:619339
Atelosteogenesis Type Iii
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... ORPHA:56305
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Waddling gait, Congestive heart failure, Calf muscle pseu... OMIM:310200
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Small for gestational age, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasi... OMIM:227270
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... ORPHA:85188
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Sclerocornea, Proximal placement of thumb, Iris coloboma, Finger syndacty... ORPHA:139471
Hyperphosphatasia With Mental Retardation Syndrome 6
Developmental cataract, 2-3 toe syndactyly, Hip contracture, Shortening of all distal phalanges o... OMIM:616809
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microcornea, Optic atrophy, Myopic astigmatism, Retinal detachment, Corneal opacity, Cataract, As... OMIM:152950
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Iris coloboma, Remnants of the hyaloid vascular sys... ORPHA:231736
Aminopterin Syndrome Sine Aminopterin
Micrognathia, Umbilical hernia, Arachnodactyly, Joint contracture of the hand, Inguinal hernia, S... OMIM:600325
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Lipomas of eyelids, Corneal opacity, Cataract, Coloboma, Clinodactyly of ... ORPHA:2399
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split hand, Split foot DECIPHER:46
Pseudohypoparathyroidism Type 1C
Short 3rd metacarpal, Short 5th metacarpal, Prolonged QT interval, Short metatarsal, Short fifth ... ORPHA:79444
Rubinstein-Taybi Syndrome 2
Micrognathia, Hyperactivity, Syndactyly, Broad hallux, Broad thumb OMIM:613684
Sialidosis Type 2
Inguinal hernia, Ataxia, Corneal opacity, Flexion contracture, Pedal edema, Umbilical hernia ORPHA:87876
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Omodysplasia 1
Limited elbow flexion, Popliteal pterygium, Micrognathia, Rhizomelia, Limited knee flexion/extens... OMIM:258315
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Retinal degeneration, Irregular carpal bones, Aor... OMIM:252600
Al-Gazali Syndrome
Micrognathia, Sclerocornea, Failure to thrive, Broad distal phalanx of finger, Wrist flexion cont... OMIM:609465
Holt-Oram Syndrome
Triphalangeal thumb, Phocomelia, Atrioventricular block, Aplasia/Hypoplasia of the radius, Finger... ORPHA:392
Moebius Syndrome
Gait disturbance, Micrognathia, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Pes ... OMIM:157900
Hereditary Bullous Dystrophy, Macular Type
Short finger, Tapered finger, Corneal opacity, Cataract, Heart murmur ORPHA:1867
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... OMIM:268305
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Tractional retinal detachment, Shallow anterior chamb... ORPHA:91495
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Carpenter Syndrome 1
Omphalocele, Genu varum, Joint contracture of the hand, Deviation of finger, Shallow acetabular f... OMIM:201000
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Enamel hypoplasia, Opacification of the corneal epithelium, M... OMIM:270200
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Abnormality of the optic disc, Micr... ORPHA:363417
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Focal Dermal Hypoplasia
Omphalocele, Abnormal dental enamel morphology, Short ribs, Iris coloboma, Finger syndactyly, Abn... ORPHA:2092
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Retinal nonattachment, Shallow anterior chamber, Persistent pupillary membrane, Iris... OMIM:221900
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Corneal opacity, ... ORPHA:137902
Camptobrachydactyly
Toe syndactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ca... ORPHA:1319
Oculomaxillofacial Dysostosis
Micrognathia, Adducted thumb, Corneal opacity, Camptodactyly of finger, Abnormality of the humeru... ORPHA:1794
Bartsocas-Papas Syndrome
Toe syndactyly, Popliteal pterygium, Micrognathia, Talipes, Finger syndactyly, Corneal opacity, A... ORPHA:1234
Grange Syndrome
Hypertension, Aortic regurgitation, Syndactyly, Short palm ORPHA:79094
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Optic atrophy, Short metatarsal, Hitchhiker thumb, Carpal synostosis, Syndacty... OMIM:605282
Shox-Related Short Stature
Micrognathia, Tibial bowing, Lower limb undergrowth, Cubitus valgus, Genu valgum, Short foot, Obe... ORPHA:314795
Oculocerebrocutaneous Syndrome
Talipes, Congenital diaphragmatic hernia, Missing ribs, Congenital hip dislocation, Finger syndac... ORPHA:1647
Pseudohypoparathyroidism Type 1A
Hypertension, Short 3rd metacarpal, Prolonged QT interval, Short 5th metacarpal, Short 4th metaca... ORPHA:79443
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma, Micrognathia, Syndactyly, Camptodactyly OMIM:614230
Hurler Syndrome
Short clavicles, Retinal degeneration, Diaphyseal thickening, Mitral regurgitation, Hypoplasia of... OMIM:607014
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Synostosis of carpal bones, Finger syndactyly, Short dist... ORPHA:957
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... OMIM:608751
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar h... OMIM:119800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... OMIM:602111
Gm1-Gangliosidosis, Type Iii
Dystonia, Opacification of the corneal stroma, Flared iliac wing, Hypoplastic acetabulae OMIM:230650
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Aniridia, Sclerocornea, Congenital aphakia, Peters anomaly, Post... OMIM:610256
Friedreich Ataxia
Hypertrophic cardiomyopathy, Optic atrophy, Abnormal echocardiogram, Areflexia of lower limbs, At... OMIM:229300
Alpha-Mannosidosis
Bowing of the long bones, Hypoplastic inferior ilia, Corneal opacity, Hip dysplasia, Cataract, In... ORPHA:61
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Small for gestational age, Ventricular tachycardia... ORPHA:26793
Charlie M Syndrome
Micrognathia, Triphalangeal thumb, Finger syndactyly, Split hand, Brachydactyly, Abnormality of t... ORPHA:1406
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... OMIM:250215
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Abnormality of the metaphysis, Aplasia/Hypoplasia of the iri... ORPHA:290
Mucolipidosis Type Iv
Gait disturbance, Abnormality of retinal pigmentation, Palmoplantar keratoderma, Genu recurvatum,... ORPHA:578
Dyggve-Melchior-Clausen Disease
Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dysplasia, Iliac crest serration, Limit... ORPHA:239
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Retinal detachment, Corneal opacity, Cataract OMIM:613153
Brachymesomelia-Renal Syndrome
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radiu... OMIM:113470
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Prolonged QT interval, Atrioventricular block, Heart block, Abnormal elec... ORPHA:398124
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Mesomeli... OMIM:601356
Atrial Septal Defect, Ostium Primum Type
Syncope, Third heart sound, Clubbing of toes, Clubbing of fingers, Abnormally loud pulmonic compo... ORPHA:99106
Monosomy 5P
Microretrognathia, Small hand, Inguinal hernia, Finger syndactyly ORPHA:281
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Chondrocalcinosis, Palpitation... ORPHA:358
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... OMIM:608571
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Pelvis-Shoulder Dysplasia
Short clavicles, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Optic ... OMIM:169550
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Ab... ORPHA:1988
Mucolipidosis Iii Gamma
Flat capital femoral epiphysis, Flared iliac wing, Aortic regurgitation, Genu valgum, Opacificati... OMIM:252605
Gm1 Gangliosidosis
Abnormal diaphysis morphology, Dystonia, Optic atrophy, Gait disturbance, Abnormality of epiphysi... ORPHA:354
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Triphalangeal thumb, Palmoplantar keratoderma, Finger syndactyly, Short thumb, Camptodactyly of f... ORPHA:2251
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Aplasia/Hypoplasia of the radius, Ulnar bowing, Corneal opacity, Micromelia, Madel... ORPHA:1765
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... ORPHA:293603
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Cone-shaped epiphysis, Short metatarsal, Hyperactivity, Short metacarpal, Obesity, S... OMIM:614613
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity, Palmoplantar keratoderma, Flexion contracture OMIM:614594
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Broad-based gait, Elbow flexion contracture OMIM:619470
Holt-Oram Syndrome
Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Aplasia of the ulna, Hyp... OMIM:142900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Amelia, Toe syndactyly, Omphalocele, Congenital diaphragmatic hernia, Syndactyly, Clinodactyly of... OMIM:601163
Fraxe Intellectual Disability
Hyperactivity, Clinodactyly of the 5th finger ORPHA:100973
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Limited knee flexion/extension, Inability to walk, Pes cavus, Proximal... ORPHA:268
Histiocytoid Cardiomyopathy
Optic atrophy, Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventric... ORPHA:137675
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Prolonged QT interval, ST segment depression, Abnormal pulse pressure, Ataxia, H... ORPHA:466650
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Tapered finger OMIM:616977
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal foot morphology, Micrognathia, Decreased palmar creases, Umbilical hernia, Narrow palm, ... ORPHA:352490
Chromosome 2Q37 Deletion Syndrome
Short metatarsal, Hyperactivity, Short metacarpal, Short toe, Obesity, Short phalanx of finger, A... OMIM:600430
Clark-Baraitser Syndrome
Hyperactivity, Clinodactyly, Obesity, Sandal gap OMIM:617752
Mental Retardation, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Peters anomaly, Optic disc coloboma, Corneal opacity, Remnants of the hya... OMIM:120200
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Talipes equinovarus, Rocker bottom foot, Deep palmar crease, Small for gestational age, Optic ner... OMIM:301056
Weaver Syndrome
Micrognathia, Talipes equinovarus, Large hands, Abnormality of the metaphysis, Finger syndactyly,... ORPHA:3447
Hurler-Scheie Syndrome
Corneal opacity, Cardiomyopathy, Hernia ORPHA:93476
Curry-Jones Syndrome
Toe syndactyly, Abnormality of thumb phalanx, Optic disc coloboma, Iris coloboma, Foot polydactyl... ORPHA:1553
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Optic atrophy, Gait disturbance, Dystonia, Ventricular tachycardia, ... OMIM:616878
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Charcot-Marie-Tooth Disease, Type 4B3
Gait disturbance, Syndactyly, Pes planus OMIM:615284
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... ORPHA:83461
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Broad hallux phalanx, Umbilical hernia, Broad thumb, 3-4 finger syndactyly, J... OMIM:175700
Dpagt1-Cdg
Optic atrophy, Developmental cataract, Intracranial hemorrhage, Prolonged QT interval, Failure to... ORPHA:86309
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Failure t... ORPHA:1329
Granular Corneal Dystrophy Type Ii
Opacification of the corneal stroma, Subepithelial corneal opacities, Granular corneal dystrophy,... ORPHA:98963
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... ORPHA:563
Macular Corneal Dystrophy
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... ORPHA:98969
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Rhizomelia, Pes planus, Cataract, Coloboma, Microcornea, Ectopia pupillae OMIM:615877
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Acral ulceration, Hyperactivity, Autoamputation of digits, Corneal u... OMIM:256800
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... ORPHA:2041
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Micrognathia, Tibial bowing, Short lower limbs, Omphalocele, Lower limb... OMIM:236640
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... ORPHA:3320
Juvenile Huntington Disease
Dystonia, Weight loss, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-... ORPHA:248111
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Atrial fibrillation, Failure to thrive, Lipodystrophy, Tachycardia, Bradyc... OMIM:613327
Camptobrachydactyly
Congenital finger flexion contractures, Short toe, Syndactyly, Hand polydactyly, Brachydactyly OMIM:114150
Cousin Syndrome
Fibular aplasia, Toe syndactyly, 2-3 toe syndactyly, Micrognathia, 4-5 toe syndactyly, Talipes eq... OMIM:260660
Anterior Segment Dysgenesis 5