Gene Summary

Name:
cyclin-dependent kinase 13
Synonyms:
2310015O17Rik,  Cdc2l5

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
preweaning lethality, complete penetrance Cdk13tm1b(EUCOMM)Hmgu HOM   Early adult 3.18×10-06
increased startle reflex Cdk13tm1b(EUCOMM)Hmgu HET Early adult 4.18×10-12

Download data as:  TSV  XLS

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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
Aorta  Section images heterozygote 50% (1 of 2)
Bone  Section images heterozygote 0.0% (0 of 2)
Brain  Section images heterozygote 0.0% (0 of 2)
Brainstem  Section images heterozygote 0.0% (0 of 2)
Brown adipose tissue  Section images heterozygote 0.0% (0 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 0.0% (0 of 2)
Cerebral cortex  Section images heterozygote 0.0% (0 of 2)
Chest bone  Section images heterozygote 0.0% (0 of 2)
Colon  Section images heterozygote 50% (1 of 2)
Cranium  Section images heterozygote 0.0% (0 of 2)
Diaphragm  Section images heterozygote 0.0% (0 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gall bladder  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hindlimb  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 0.0% (0 of 2)
Hypothalamus  Section images heterozygote 0.0% (0 of 2)
Ileum  Section images heterozygote 0.0% (0 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 50% (1 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lower urinary tract  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Olfactory lobe  Section images heterozygote 0.0% (0 of 2)
Oral epithelium  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parathyroid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Peripheral nervous system  Section images heterozygote 0.0% (0 of 2)
Pituitary gland  Section images heterozygote 0.0% (0 of 2)
Prostate gland  Section images heterozygote Not available
Quadriceps  Section images heterozygote 0.0% (0 of 2)
Skeletal muscle  Section images heterozygote 0.0% (0 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 0.0% (0 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Striatum  Section images heterozygote 0.0% (0 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 50% (1 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 0.0% (0 of 2)
White adipose tissue  Section images heterozygote 0.0% (0 of 2)
Adrenal gland N/A heterozygote Not available
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote Not available
Epididymis N/A heterozygote Not available
Gonadal fat pad N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Main olfactory bulb N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote Not available
Parotid gland N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Sublingual gland N/A heterozygote Not available
Thalamus N/A heterozygote Not available
Trigeminal V nerve N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Central nervous system ganglion N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Ear N/A heterozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Outer ear N/A heterozygote Ambiguous
Eye N/A heterozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Forearm N/A heterozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Head N/A heterozygote Ambiguous
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Inner ear N/A heterozygote Ambiguous
Liver N/A heterozygote Ambiguous
Lower leg N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Nose N/A heterozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Chorioallantoic placenta N/A heterozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
Skeleton N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote Ambiguous
Upper arm N/A heterozygote Ambiguous
Upper leg N/A heterozygote Ambiguous
Vibrissa N/A heterozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
cranium
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
liver 0.2% (1 of 505)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
placenta 16.67% (7 of 42)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
vibrissa 1.35% (1 of 74)

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

36 Images

Adult LacZ

LacZ Images Section

113 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Cdk13 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cdk13 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thick upper lip vermilion, Narrow mouth, Bulbous nose, Atrial septal defect, Short stature, Thin ... OMIM:617360

The table below shows human diseases predicted to be associated to Cdk13 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Choanal Atresia And Lymphedema
High palate, Lymphedema, Choanal atresia, Pericardial effusion OMIM:613611
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block... OMIM:115197
Nephrosialidosis
Nephrotic syndrome, Nephropathy, Renal insufficiency, Ascites, Pericardial effusion OMIM:256150
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Wide mouth, Hepatomegaly, Depressed nasal bridge, Hepatosplen... OMIM:608776
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Wide mouth, Micropenis, Long philtrum, Wide nasal bridge, Perianal abscess, Cryptorchidism, Thin ... OMIM:614684
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... ORPHA:300751
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion, Abnormality of the peritoneum ORPHA:48686
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Hydrops... ORPHA:2414
Cantu Syndrome
Thick upper lip vermilion, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Gingi... OMIM:239850
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Hydrops Fetalis
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Pleural effusion, Generalized ... ORPHA:1041
Craniofaciofrontodigital Syndrome
Depressed nasal bridge, Ventricular septal defect, Pyloric stenosis, Gastrointestinal hemorrhage,... ORPHA:363705
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Depressed nasal bridge, Delayed eruption of teeth, Ventricular... OMIM:235510
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Primary Ciliary Dyskinesia
Double outlet right ventricle, Hydrocephalus, Anomalous pulmonary venous return, Recurrent sinopu... ORPHA:244
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Micropenis, Depressed nasal bridge, Anterior hypopituitarism, Short ... OMIM:241800
Pai Syndrome
Cleft palate, Depressed nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, Median clef... ORPHA:1993
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Arrhythmia, Ven... ORPHA:26793
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Nasal congestion, Bronchiectasis, Absen... OMIM:616037
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Hematuria, Abnormal pulmonary interstitial morphology, Bil... ORPHA:77259
Arthrogryposis, Distal, Type 1C
High palate, Hip contracture, Narrow mouth, Pursed lips, Cleft palate, Short stature, Thin vermil... OMIM:619110
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Alg9-Cdg
Wide mouth, Hepatomegaly, Depressed nasal bridge, Short neck, Hepatic cysts, Ventricular septal d... ORPHA:79328
Alkuraya-Kucinskas Syndrome
High palate, Hydrocephalus, Micropenis, Depressed nasal bridge, Camptodactyly, Short nose, Arthro... OMIM:617822
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Proteinuria, Pericarditis, Intrauterine growth retardation, Stage 5 chronic kidney ... OMIM:619487
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, High, narrow palate, Cryptorchidism, Micropenis, Short stature, Hypospadias, Bifid u... ORPHA:2872
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Stomach cancer, Enlarged poly... ORPHA:2869
Eosinophilic Granulomatosis With Polyangiitis
Malabsorption, Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Endocarditis... ORPHA:183
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, Atrial septal defect, Cleft palate, Short stature, Unilateral rena... OMIM:608572
Mosaic Trisomy 9
Atrial septal defect, Hypoplasia of penis, Abnormal liver lobulation, Oligohydramnios, Hydrops fe... ORPHA:99776
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Emphysema, Splenomegaly, Hematuria, Angioedema, Proteinuria, Pleural effusion, Rena... ORPHA:36412
Temple Syndrome
High palate, Hydrocephalus, Cleft palate, Flexion contracture, Short stature, Depressed nasal bri... OMIM:616222
Hypertelorism, Microtia, Facial Clefting Syndrome
Facial cleft, Ectopic kidney, Abnormal heart morphology OMIM:239800
Triopia
Polyhydramnios, Encephalocele, Midline facial cleft ORPHA:3374
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Facial cleft, Anterior encephalocele OMIM:601357
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Polyvalvular Heart Disease Syndrome
High palate, Dental crowding, Aortic valve stenosis, Tricuspid regurgitation, Short stature, Pulm... ORPHA:228410
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... OMIM:181350
Ciliary Dyskinesia, Primary, 22
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Rh... OMIM:615444
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Ventricular septal defect, Bradycardia, Hypertrophic cardiomyopathy, Intrauterine... OMIM:618775
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Ciliary Dyskinesia, Primary, 19
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Rhinitis, Absent... OMIM:614935
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Neonatal death, Pulmonary hypo... OMIM:619003
Acute Interstitial Pneumonia
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Retic... ORPHA:79126
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Patent urachus, Tachycardia, He... OMIM:618280
Ciliary Dyskinesia, Primary, 5
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Chronic rhinitis, Recurrent pneu... OMIM:608647
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Wide mouth, Hepatomegaly, Flexion contracture, Hypertrophic ... ORPHA:1194
Juvenile Idiopathic Arthritis
Joint swelling, Malabsorption, Hepatomegaly, Splenomegaly, Abnormal pleura morphology, Pericardia... ORPHA:92
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Bronchiectasis, Absent inner and outer dynein arms, Nasal p... OMIM:606763
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Chronic rhinitis, Bronchiectasis, Nasal polyposis, Recurrent respiratory ... OMIM:617092
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Ciliary Dyskinesia, Primary, 15
Chronic bronchitis, Abnormal axonemal organization of respiratory motile cilia, Situs inversus to... OMIM:613808
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Nasal polyposis, Bifid uvula, Median cleft lip OMIM:155145
Fryns Microphthalmia Syndrome
Facial cleft, Neural tube defect OMIM:600776
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Congenital Enterovirus Infection
Hepatic failure, Hydrops fetalis, Myocarditis, Cholestasis, Hypotension, Polyhydramnios, Hepatiti... ORPHA:292
Lipoid Proteinosis
High palate, Abnormal oral mucosa morphology, Tongue nodules, Microglossia, Thick lower lip vermi... ORPHA:530
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Hydrocephalus, Cleft palate, Thin vermilion border, Short neck, Bifid ... OMIM:612938
Tonne-Kalscheuer Syndrome
Narrow mouth, Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Micropenis, Short st... OMIM:300978
Nathalie Syndrome
Arrhythmia, Short stature ORPHA:2663
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Hepatomegaly, Flexion contracture, Steatorrhea, Depressed nasal bridge, Nonim... OMIM:212065
Lymphatic Malformation 7
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Disproportionate short-limb short stature, Nephronophthisis, Hypospadia... ORPHA:1505
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Flexion contracture, Left ventricular hypertrophy, Abnormal renal c... OMIM:616733
Hennekam Syndrome
Mild postnatal growth retardation, Depressed nasal bridge, Short philtrum, Delayed eruption of te... ORPHA:2136
Q Fever
Abnormal left ventricular function, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Endocarditis,... ORPHA:781
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Scapuloperoneal Myopathy, X-Linked Dominant
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... OMIM:300695
Combined Oxidative Phosphorylation Deficiency 23
Intrauterine growth retardation, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cleft palate, Sudden cardiac death, Elevated circulating aspartate aminotransferase... OMIM:614921
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Micropenis, Cleft palate, Hypospadias, Hydrops fetalis, Short neck, Wide nas... OMIM:616897
Gaucher Disease Type 3
Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcification, Hydrops fetal... ORPHA:77261
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Oligohydramnios, Cystic renal dysplasia, ... OMIM:615415
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Hematuria, Prolonged QTc interval ORPHA:231111
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Arrhythmia, Ventricular septal defect, Hypertension, Oligohydramnios, I... OMIM:617021
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, EMG: myopathic abnormalities, Palpitations, Arrhythmia, ST segment elevati... ORPHA:263297
Pediatric Systemic Lupus Erythematosus
Dark urine, Nephrotic syndrome, Nephritis, Raynaud phenomenon, Myositis, Hematuria, Proteinuria, ... ORPHA:93552
Kaposiform Lymphangiomatosis
Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Epidural hemorrhage, Multiple renal... ORPHA:464329
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Intestinal malrotation, Multicystic kidney dysplasia, Abnormal... ORPHA:3032
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hemothorax, Right ventricular failure, Elevated ... ORPHA:199241
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, Nonimmune hydrops... OMIM:619313
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Situs inversus totalis, Chronic rhinitis, Recurrent bronchitis, Anos... OMIM:244400
Frontonasal Dysplasia 3
Facial cleft, Wide nasal bridge OMIM:613456
Muscular Dystrophy, Becker Type
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy OMIM:300376
Aymé-Gripp Syndrome
Narrow mouth, Hydrocephalus, Congenital diaphragmatic hernia, Cleft palate, Short stature, Crypto... ORPHA:1272
Oculomaxillofacial Dysostosis
Facial cleft, Wide nasal bridge, Short stature ORPHA:1794
Pulmonary Non-Tuberculous Mycobacterial Infection
Bronchiectasis, Pneumothorax, Pericardial effusion, Pleural effusion ORPHA:411703
Acrofacial Dysostosis, Catania Type
Short stature, Hypospadias, Spina bifida occulta, Short nose, Facial cleft, Intrauterine growth r... ORPHA:1786
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... ORPHA:2041
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Persistent fetal circulation, Hydrocephalus, Atrial septal defect, High, narrow pala... OMIM:612863
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Amyoplasia, Hypoplastic heart, Flexion contracture, Cleft palate, Depressed nasa... OMIM:312150
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Short neck, Neonatal death, Ureteral agenesis, Hydranencephaly, Renal cyst, Renal h... OMIM:236500
Facial Clefting, Oblique, 1
Facial cleft OMIM:600251
Cirrhotic Cardiomyopathy
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Pro... ORPHA:57777
Emanuel Syndrome
High palate, Multiple joint contractures, Hydrocephalus, Cleft palate, Delayed eruption of teeth,... ORPHA:96170
Maternally-Inherited Diabetes And Deafness
Malabsorption, Arrhythmia, Renal insufficiency, Proteinuria, Hypertension, Hypertrophic cardiomyo... ORPHA:225
Renal Tubular Dysgenesis
Nephropathy, Multiple renal cysts, Tetralogy of Fallot, Polyhydramnios, Pulmonary hypoplasia, Pro... ORPHA:3033
Serkal Syndrome
Congenital diaphragmatic hernia, Pulmonic stenosis, Abnormal penis morphology, Hypospadias, Malro... ORPHA:139466
Marden-Walker Syndrome
High palate, Narrow mouth, Joint contracture of the hand, Cleft palate, Micropenis, High, narrow ... OMIM:248700
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Hepatomegaly, Subdural hemorrhage, Hepatic failure, Hemothorax, Hematuria... ORPHA:99827
Aicardi-Goutieres Syndrome 7
Intrauterine growth retardation, Nephrotic syndrome, Hepatomegaly, Hematemesis, Hypertrophic card... OMIM:615846
Supernumerary Nostril
Facial cleft ORPHA:141096
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Pleural effusion, Edema, Generalized edema, Gro... ORPHA:90362
Frontofacionasal Dysplasia
Encephalocele, Short nose, Facial cleft, Short stature ORPHA:1791
Pentalogy Of Cantrell
Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal pericardium morpho... ORPHA:1335
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoparathyroidism, Narrow mouth, Hypoplastic left heart, Cleft pa... ORPHA:3426
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Stomatitis, Pleural effusion, Pericardial effusion OMIM:613011
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Depressed nasal bridge, Long philtrum, Bifid uvula, Anteverted nares OMIM:615942
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Anomalous pulmonary venous return, Atr... ORPHA:99105
Diamond-Blackfan Anemia 6
Cleft upper lip, Atrial septal defect, Cleft palate, Mitral regurgitation, Bifid uvula, Tetralogy... OMIM:612561
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Alg3-Cdg
High palate, Decreased liver function, Macroglossia, Neural tube defect, Abnormality of the nose,... ORPHA:79321
Familial Dilated Cardiomyopathy
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... ORPHA:217607
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Atrial arrhythmia, R... ORPHA:85451
Wild Type Attr Amyloidosis
Nephrotic syndrome, Pulmonary edema, Hepatomegaly, Orthostatic hypotension due to autonomic dysfu... ORPHA:330001
Cystic Fibrosis
Ileus, Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Recurrent bronchopulmonary ... OMIM:219700
Al Amyloidosis
Hepatomegaly, Proteinuria, Postural hypotension with compensatory tachycardia, Gastrointestinal h... ORPHA:85443
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Broad nasal tip, Hypoplastic left atrium, Ventricular septal def... OMIM:615524
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Bulbous nose, Cleft palate, Dysplastic pulmonary valve, Bifid uvula, Anteverted ... OMIM:300958
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Andersen-Tawil Syndrome
High palate, Bulbous nose, Abnormality of the dentition, Bidirectional ventricular ectopy, Prolon... ORPHA:37553
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... ORPHA:437572
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis, Short statu... OMIM:617660
Lethal Congenital Contracture Syndrome 10
Torticollis, High palate, Narrow palate, Overriding aorta, Hypoplasia of the thymus, Hydrops feta... OMIM:617022
Multiple Pterygium Syndrome, Lethal Type
Amyoplasia, Hypoplastic heart, Flexion contracture, Cleft palate, Depressed nasal ridge, Polyhydr... OMIM:253290
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Hematochezia, Polyhydramnios, Protein-losing enteropathy, Anasarca, Pleural effusion, C... OMIM:618183
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Pulmon... ORPHA:75249
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Cleft upper lip, Congenital diaphragmatic hernia, Cleft palate, Holoprosencephaly, S... OMIM:612530
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Anophthalmia Plus Syndrome
Spina bifida, Facial cleft ORPHA:1104
Anencephaly 2
Median cleft palate, Anencephaly, Bifid nose, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, High, narrow palate, Hypodontia, Supernumerary tooth... ORPHA:2919
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Acrofacial Dysostosis, Weyers Type
Mild short stature, Facial cleft ORPHA:952
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Pulmonary edema, Abnormal renal tubular resorption, Hepatic calcification... ORPHA:73224
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... OMIM:208540
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Congenital... ORPHA:2847
Gillessen-Kaesbach-Nishimura Syndrome
Convex nasal ridge, Congenital diaphragmatic hernia, Flexion contracture, Periportal fibrosis, Sh... OMIM:263210
Myhre Syndrome
Narrow mouth, Generalized muscle hypertrophy, Atrial septal defect, Aortic valve stenosis, Cleft ... OMIM:139210
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Intestinal bleeding, Nasal polyposis, Multiple gastric polyps, Intussus... OMIM:175200
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short stature, Arrhythmia, Camptodactyly OMIM:618453
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia OMIM:614096
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cleft palate, Holoprosencephaly, Short stature, Broad nasal tip,... ORPHA:250999
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Minicore Myopathy With External Ophthalmoplegia
High palate, Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:255320
Zimmermann-Laband Syndrome 3
High palate, Gingival overgrowth, Flexion contracture, Broad nasal tip, Bifid uvula, Wide nasal b... OMIM:618658
Classical-Like Ehlers-Danlos Syndrome Type 2
High palate, Premature loss of teeth, Periodontitis, Narrow palate, Tooth malposition, Cryptorchi... ORPHA:536532
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Recurrent upper respiratory tract infections, Recu... OMIM:615518
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Facial cleft, Ethmoidal encephalocele OMIM:607597
Cerebrooculonasal Syndrome
Facial cleft, Hypoplasia of penis ORPHA:66625
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Atrial septal defect, Hypodontia, Cleft palate, Postnatal growth retardation, Hy... OMIM:619184
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Cholestasis, Bladder exstrophy, Ventricular septal defect, Esophag... OMIM:301068
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosis, Tooth malposition, Clef... ORPHA:2712
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Hip contracture, Flexion contracture, Scapular winging, Camptodactyly, Distal arthro... OMIM:617468
Agnathia-Otocephaly Complex
Narrow mouth, Secundum atrial septal defect, Cleft palate, Holoprosencephaly, Situs inversus tota... OMIM:202650
Intellectual Developmental Disorder, X-Linked 90
High palate, Enuresis, Bifid uvula OMIM:300850
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Recurrent bronchitis, Emphysema, Bronchiectasis, Nasal polyposis OMIM:604571
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Atrial septal defect, Hypodontia, Cleft palate, Thin vermilion b... ORPHA:254346
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Palpitations, Syncope, Heart murmur, Abnormal cardiovascul... ORPHA:422
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Splenomegaly, Hypercal... OMIM:181000
Sarcoidosis
Hepatomegaly, Hepatic failure, Abnormal pleura morphology, Enlarged lacrimal glands, Enlargement ... ORPHA:797
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Pulmonary hypoplasia, Knee flexion contracture, Arthrogrypo... OMIM:616531
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Conges... OMIM:602390
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Hypospadias, Depressed nasal bridge, Wide na... OMIM:618316
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, High palate, Narrow mouth, Left ventricular hypertrophy, Facial... ORPHA:169186
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cleft palate, Intestinal malrotation, Depressed nasal bridge, Abnormal nasal morphology, Long phi... ORPHA:404440
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Growth delay, Cleft palate, Abnormality of the dentition, Long philtrum, Bifid uvula... ORPHA:576283
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... OMIM:608758
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula, Hydronephrosis ORPHA:2669
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Chromosome 18Q Deletion Syndrome
Cleft palate, Depressed nasal bridge, Short philtrum, Short neck, Ventricular septal defect, Umbi... OMIM:601808
Spinal Muscular Atrophy With Congenital Bone Fractures 1
High palate, Narrow mouth, Muscle fiber atrophy, Secundum atrial septal defect, Flexion contractu... OMIM:616866
Ciliary Dyskinesia, Primary, 42
Recurrent sinusitis, Chronic rhinitis, Pneumonia, Bronchiectasis, Nasal polyposis OMIM:618695
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Meckel Syndrome 12
Ureteral hypoplasia, Bifid uvula, Renal hypoplasia, Arthrogryposis multiplex congenita, Anteverte... OMIM:616258
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Hypertension,... ORPHA:563
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Short philtrum, Anencephaly, Delayed eruption of teeth, Advanced eruption of teeth, ... OMIM:619148
Thymic Aplasia With Fetal Death
Ureteral agenesis, Stillbirth, Pulmonary hypoplasia, Truncus arteriosus OMIM:274210
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Arrhythmia, ... OMIM:235200
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Narrow mouth, Cleft palate, Short stature, Depressed nasal bridge, Short philtrum, B... ORPHA:96184
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Propionic Acidemia
Organic aciduria, Hepatomegaly, Cardiomyopathy, Arrhythmia ORPHA:35
Cleft Velum
Aspiration pneumonia, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Subaortic Stenosis-Short Stature Syndrome
Membranous subvalvular aortic stenosis, Short stature, Short neck, Arrhythmia, Microdontia, Bilia... ORPHA:3191
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... ORPHA:3092
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia, Myopathy ORPHA:104
Gitelman Syndrome
Proteinuria, Renal potassium wasting, Prolonged QT interval, Renal tubular acidosis, Abnormal T-w... ORPHA:358
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... OMIM:613838
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Bulbous nose, Thin vermilion border, Depressed nasal bridge, Short philtrum, Short neck, Birth le... OMIM:618622
Trichohepatoenteric Syndrome 1
Wide mouth, Hepatomegaly, Depressed nasal ridge, Hepatic failure, Cholestasis, Abnormality of the... OMIM:222470
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Joint contracture of the hand, Hypodontia, Short stature, Depre... OMIM:612350
Czeizel-Losonci Syndrome
High palate, Myelomeningocele, Hydrocephalus, Congenital megaureter, Tracheoesophageal fistula, U... ORPHA:2437
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... OMIM:600858
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Cleft palate, Thin vermilion border, Camptodactyly of finger, Abnormal lung lobation, Pulmonary h... ORPHA:2631
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Cleft palate, Hypospadias, Bilateral lung agenesis, Ventricular ... OMIM:611812
Poems Syndrome
Increased circulating prolactin concentration, Pleural effusion, Edema, Pulmonary arterial hypert... ORPHA:2905
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Hypo... OMIM:601186
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Hepatomegaly, Short neck, Anencephaly, Lobulated tongue, Ventricular septal defect... OMIM:269860
Meckel Syndrome, Type 10
Cleft palate, Micropenis, Hypospadias, Anencephaly, Malformation of the hepatic ductal plate, Bif... OMIM:614175
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Abnormality of the hepatic vasculature, Hepatomegaly, Atrioventricular ... ORPHA:1677
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Arrhythmia, Dilated cardiomyopathy, Facial palsy, C... OMIM:611705
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Moderately short stature, Bifid uvula, Cleft palate ORPHA:506353
Neonatal Lupus Erythematosus
Hydrocephalus, Atrioventricular block, Hepatomegaly, Splenomegaly, Hepatic failure, Arrhythmia, E... ORPHA:398124
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Pedal ... ORPHA:75565
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Cleft palate, Ureteral stenosis, Dextrocardia, Abnormal hemidiaphr... ORPHA:2257
Naxos Disease
Cleft upper lip, Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyop... ORPHA:34217
Lymphangioleiomyomatosis
Abnormal urinary color, Hydrocephalus, Chylopericardium, Chylothorax, Renal angiomyolipoma, Hemat... ORPHA:538
Congenital Hypothyroidism
Nephrolithiasis, Macroglossia, Abnormal pericardium morphology, Short stature, Tracheoesophageal ... ORPHA:442
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect, Bifid uvula, Submucous cleft hard palate OMIM:619239
Attrv30M Amyloidosis
Abnormal renal physiology, Nephropathy, Arrhythmia, Cardiomegaly, Cardiomyopathy, Atrioventricula... ORPHA:85447
Fryns Syndrome
High palate, Abnormal cardiac septum morphology, Wide mouth, Cleft palate, Short neck, Tented upp... ORPHA:2059
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Nephrotic syndrome, Bifid uvula OMIM:256200
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Pedal edema... ORPHA:99103
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Micropenis,... OMIM:616331
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Hydrops fetalis, Arrhythmia, Ab... ORPHA:45452
Noonan Syndrome With Multiple Lentigines
Abnormal mitral valve morphology, Atrioventricular canal defect, Aplasia/Hypoplasia of the abdomi... ORPHA:500
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Anal atresia, Dental malocclusion, Atrial septal defect, Velopharyngea... ORPHA:363444
Diaphanospondylodysostosis
Cleft palate, Depressed nasal ridge, Abnormal liver lobulation, Depressed nasal bridge, Short nec... OMIM:608022
Thanatophoric Dysplasia
Hydrocephalus, Disproportionate short-limb short stature, Atrial septal defect, Depressed nasal b... ORPHA:2655
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Noonan Syndrome 5
Wide mouth, Atrial septal defect, Cryptorchidism, Short stature, Pulmonic stenosis, Depressed nas... OMIM:611553
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Bulbous nose, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:608836
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Amish Lethal Microcephaly
Hepatomegaly, Limb hypertonia, Organic aciduria, Spina bifida, Cleft soft palate ORPHA:99742
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Cleft palate, Depressed nasal bridge, Camptodactyly of finger, Polyh... ORPHA:994
Ciliary Dyskinesia With Excessively Long Cilia
Chronic rhinitis, Recurrent bronchitis, Abnormal respiratory motile cilium morphology, Nasal poly... OMIM:242680
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Cleft palate, Atrioventricular canal defect, Ventricular septal defect, Furrowed ton... ORPHA:453499
Zimmermann-Laband Syndrome
High palate, Wide mouth, Bulbous nose, Hepatomegaly, Hypodontia, Macroglossia, Splenomegaly, Clef... ORPHA:3473
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Umbilical hern... ORPHA:1686
Hemochromatosis, Type 4
Hepatomegaly, Cirrhosis, Arrhythmia, Hepatic steatosis, Cardiomyopathy OMIM:606069
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Short stat... OMIM:129400
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
3Mc Syndrome 3
Short stature, Micropenis, Penoscrotal hypospadias, Horseshoe kidney, Facial cleft, Growth delay OMIM:248340
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... ORPHA:99095
Ogden Syndrome
Torticollis, High, narrow palate, Pulmonary artery stenosis, Cryptorchidism, Arrhythmia, Cardioge... ORPHA:276432
Constricting Bands, Congenital
Encephalocele, Facial cleft, Bladder exstrophy, Ectopia cordis OMIM:217100
Chédiak-Higashi Syndrome
Decreased liver function, Periodontitis, Splenomegaly, Hepatosplenomegaly, Epistaxis, Elevated he... ORPHA:167
Acrocallosal Syndrome
High palate, Abnormal cardiac septum morphology, Wide mouth, Triangular mouth, Cleft palate, Shor... OMIM:200990
Stickler Syndrome, Type Ii
High, narrow palate, Cleft palate, Depressed nasal bridge, Bifid uvula, Anteverted nares, Pierre-... OMIM:604841
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Anteverted nares OMIM:613124
Rheumatic Fever
Abnormal mitral valve morphology, Nephrotic syndrome, Aplasia/Hypoplasia of the abdominal wall mu... ORPHA:3099
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Short stature, Hypospadias, Short uvula, Hydrops fetalis, Agenesis of ... OMIM:614091
Benign Schwannoma
Abnormal esophagus morphology, Intestinal polyposis, Facial palsy, Abnormal parotid gland morphol... ORPHA:252164
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Short stature, Glossoptosis, Abnormality of the sense of smell, ... ORPHA:3201
Polymyositis
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Hepatomegaly, Arrhythmia, Vas... ORPHA:732
Buratti-Harel Syndrome
High palate, Atrial septal defect, Velopharyngeal insufficiency, Hypospadias, Bifid uvula, Recurr... OMIM:619314
Orofaciodigital Syndrome V
High palate, Hypodontia, Cleft palate, Bifid tongue, Unilateral cryptorchidism, Bifid uvula, Tetr... OMIM:174300
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Trisomy 8P
Multiple joint contractures, Hydrocephalus, Cleft palate, Depressed nasal bridge, Malrotation of ... ORPHA:264450
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Meckel Syndrome, Type 6
Cleft upper lip, Hydrocephalus, Cleft palate, Anencephaly, Hepatic cysts, Absent gallbladder, Ren... OMIM:612284
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Facial cleft, Hydrops fetalis, Ectopic kidney ORPHA:268249
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Pleural effusion, Hypertension, Jaundice, Pericardial effusion OMIM:108050
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Aminoaciduria, Short stature, Arrhythmia, Ventricular septal defect, Situs ... OMIM:249270
Spondylometaphyseal Dysplasia, Schmidt Type
Polyhydramnios, Severe short stature, Cleft soft palate, Disproportionate short-trunk short stature ORPHA:93316
Loeys-Dietz Syndrome 5
High palate, Atrial septal defect, Hiatus hernia, Cleft palate, Eosinophilic infiltration of the ... OMIM:615582
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Renal tubular acidosis, Hepatic failure, Sudden cardiac death, Arrhythmia, Elevated... ORPHA:156
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Tetrasomy 5P
High palate, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature, Short neck, Lon... ORPHA:3309
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Hydrocephalus, Severe short stature, Cryptorchidism, Cleft palate, Flexion contract... ORPHA:1865
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Cleft palate, Short stature, Thin vermilion border, Intestinal malr... OMIM:614701
Hydrolethalus
Hydrocephalus, Cleft palate, Abnormality of the sense of smell, Gingival cleft, Anencephaly, Bifi... ORPHA:2189
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Pedal edema, Reduced left ventricular ... ORPHA:980
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
High palate, Bulbous nose, Cleft palate, Ventricular septal defect, Tented upper lip vermilion, I... OMIM:608670
Gaucher Disease, Perinatal Lethal
Narrow mouth, Hepatomegaly, Hepatic failure, Splenomegaly, Everted lower lip vermilion, Hepatospl... OMIM:608013
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Wide mouth, Bulbous nose, Dysplastic pulmonary valve, Hypospadias, Depressed nasal bridge, Ventri... OMIM:619103
Ogden Syndrome
High palate, Hydrocele testis, Abnormality of the dentition, Short philtrum, Short neck, Depresse... OMIM:300855
Kagami-Ogata Syndrome
Diastasis recti, Atrial septal defect, Hepatomegaly, Flexion contracture, Splenomegaly, Pulmonic ... OMIM:608149
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Muscular ventricular septal defect, Unilateral renal agenesis, Tracheoesophagea... OMIM:619227
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Hepatomegaly, High, narrow palate, Hepatic failure, Hepatic calcification, Myoglob... ORPHA:228308
Muscular Dystrophy, Progressive Pectorodorsal
Shoulder girdle muscle weakness, Muscular dystrophy, Scapular winging, Arrhythmia OMIM:310095
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pol... OMIM:616867
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Micropenis, D... OMIM:616546
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Symmetrical Thalamic Calcifications
Polyhydramnios, Arrhythmia ORPHA:1314
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hepatic failure, Myoglobinuria, Arrhythmia, Red-brown urine, Rhabdomyolysis, Elevat... ORPHA:228305
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... OMIM:300257
Mosaic Trisomy 1
Wide mouth, Renal cortical cysts, Congenital diaphragmatic hernia, Cleft palate, Micropenis, Depr... ORPHA:1692
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Arrhythmia, Myocarditis, Edema, Periorbital ed... ORPHA:3386
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Atrial septal defect, Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid uvula, ... ORPHA:1790
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Myhre Syndrome
Abnormal cardiac septum morphology, Narrow mouth, Intrauterine growth retardation, Severe short s... ORPHA:2588
Classical-Like Ehlers-Danlos Syndrome Type 1
Arrhythmia, Spina bifida occulta, Mitral valve prolapse, Thin skin, Gastrointestinal hemorrhage, ... ORPHA:230839
Coffin-Siris Syndrome 11
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Bifid uvula, Downturned corners of... OMIM:618779
Oculocerebrocutaneous Syndrome
Facial cleft ORPHA:1647
Distal Tetrasomy 15Q
High palate, Hydrocele testis, Hydrocephalus, Atrial septal defect, Flexion contracture, Camptoda... ORPHA:314588
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope, Pierre-Robin sequence, Posteriorly place... OMIM:192445
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Hepatomegaly, Premature ventricular contraction, Hypotension, Rhabdomyolysis, Ele... OMIM:212138
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Anal atresia, Bulbous nose, Atrial septal defect, Cleft palate, Short stature, Abnormality of the... OMIM:300968
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Fabry Disease
Angina pectoris, Left ventricular hypertrophy, Arrhythmia, Myocardial infarction, Lymphedema, Ven... OMIM:301500
Arthrogryposis, Distal, Type 3
High palate, Cleft palate, Short stature, Camptodactyly of toe, Camptodactyly of finger, Short ne... OMIM:114300
Wild Type Abeta2M Amyloidosis
Abnormality of the thenar eminence, Macroglossia, Abnormal tendon morphology, Arrhythmia, Intesti... ORPHA:85446
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Short stature, Short neck, Bifid uvula, Ventricular septal defect, Recurrent aspirat... OMIM:300472
Hec Syndrome
Arrhythmia, Communicating hydrocephalus, Endocardial fibroelastosis, Polyhydramnios, Vaginal hydr... ORPHA:2119
Meckel Syndrome 14
Tricuspid regurgitation, Holoprosencephaly, Single ventricle, Mitral regurgitation, Short neck, A... OMIM:619879
Dystonia 23
Torticollis, Arrhythmia OMIM:614860
Kleefstra Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Ventricular septal defect, Pyloric stenosi... ORPHA:261494
Tetrasomy 9P
High palate, Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Hydrocephalus,... ORPHA:3310
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Abnormality of the pituitary gland, Adrenocorticotropic hormone defi... ORPHA:91347
Uvula, Bifid
Bifid uvula OMIM:192100
Dk1-Cdg
Short stature, Arrhythmia, Cardiomyocyte hypertrophy, Elevated hepatic transaminase, Interstitial... ORPHA:91131
Cleft Soft Palate
Cleft soft palate OMIM:119570
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Hepatomegaly, Tricuspid regurgitation, Aspiration pneumonia, Left ventricular noncompa... OMIM:619167
Marden-Walker Syndrome
Hydrocephalus, Cleft palate, Ventricular septal defect, Pyloric stenosis, Intrauterine growth ret... ORPHA:2461
Ciliary Dyskinesia With Defective Radial Spokes
Chronic rhinitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Atrial septal defect, Short stature, Depressed nasal bridge, Long philtrum, Ven... OMIM:145420
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Micropenis, Recurrent respiratory infections, Hypospadias, Short stature, Short neck, Submucous c... ORPHA:2282
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Arrhythmia OMIM:614702
Desmosterolosis
Narrow mouth, Anomalous pulmonary venous return, Hydrocephalus, Severe short stature, Cleft palat... ORPHA:35107
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, High, narrow palate, Cleft palate, Severe short stature, Delayed eruption ... ORPHA:2780
Meier-Gorlin Syndrome 7
High palate, Anal atresia, Narrow mouth, Atrial septal defect, Cleft palate, Micropenis, Short st... OMIM:617063
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Cleft soft palate, Esophageal atresia, Facial hypotonia, Smooth philtrum OMIM:614526
Osteopathia Striata With Cranial Sclerosis
High palate, Hydrocephalus, Webbed neck, Cleft palate, Ventricular septal defect, Thick lower lip... OMIM:300373
Oligomeganephronia
Secundum atrial septal defect, Congenital diaphragmatic hernia, Decreased glomerular filtration r... ORPHA:2260
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... OMIM:613873
Congenital Disorder Of Glycosylation, Type Id
High palate, Bulbous nose, Joint contracture of the hand, Flexion contracture, Depressed nasal br... OMIM:601110
Moebius Syndrome
Facial diplegia, High palate, Micropenis, Abnormality of the dentition, Depressed nasal bridge, S... OMIM:157900
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Short stature, Arrhythmia, Furrowed tongue ORPHA:2928
Bartsocas-Papas Syndrome 1
Micropenis, Short nose, Ectopic kidney, Patent foramen ovale, Facial cleft, Intrauterine growth r... OMIM:263650
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Bulbous nose, Prominent nasal tip, Abnormal preputium morphology, Short philtrum, Glandular hypos... ORPHA:293725
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hepatic steatosis, Arrhythmia, Distal arthrogryposis, Ele... ORPHA:42
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ven... OMIM:609040
Refsum Disease, Classic
Abnormal renal physiology, Arrhythmia, Anosmia, Limb muscle weakness, Cardiomyopathy, Cardiomegal... OMIM:266500
Thoracoabdominal Syndrome
Cleft upper lip, Hydrocephalus, Congenital diaphragmatic hernia, Cleft palate, Hypospadias, Anenc... OMIM:313850
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Growth delay, Hypertrophic cardiomyopathy, Hypospadias, Long philtrum, Arrhythmia, Neonatal death... OMIM:614052
Prader-Willi Syndrome Due To Translocation
High palate, Wide mouth, Cleft palate, Broad nasal tip, Short neck, Carious teeth, Short nose, In... ORPHA:177907
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Short stature, Depressed nasal bridge, Short neck, Delayed eruption of teeth, Hyper... OMIM:300990
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Facial diplegia, Secundum atrial septal defect, Short philtrum, Long philtrum, Bifid uvula, Downt... OMIM:619121
Multiple Epiphyseal Dysplasia, Lowry Type
Short stature, Broad nasal tip, Rhizomelia, Cleft hard palate, Knee flexion contracture ORPHA:166016
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Systemic Capillary Leak Syndrome
Pulmonary edema, Pancreatitis, Arrhythmia, Myocarditis, Hypotension, Oliguria, Pedal edema, Renal... ORPHA:188
Dyssegmental Dysplasia, Silverman-Handmaker Type
Disproportionate short-limb short stature, Narrow mouth, Neonatal death, Pulmonary hypoplasia, Cr... OMIM:224410
Cardiofaciocutaneous Syndrome 1
High palate, Hydrocephalus, Bulbous nose, Abnormality of the dentition, Depressed nasal bridge, S... OMIM:115150
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Ethylmalonic aciduria, 3-Methylglutaric aciduria, Depress... ORPHA:26791
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Nephrolithiasis, Weakness of facial musculature, Arrhythmia, Ragged-red muscle fibers, Dilated ca... ORPHA:352447
Otopalatodigital Syndrome Type 2
Myelomeningocele, Abnormal cardiac septum morphology, Anodontia, Narrow mouth, Hydrocephalus, Cle... ORPHA:90652
Holoprosencephaly
Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Short neck, Ventricular septal defect,... ORPHA:2162
Frontonasal Dysplasia 2
Tessier number 13 facial cleft, Encephalocele, Oligohydramnios, Intrauterine growth retardation, ... OMIM:613451
Temple Syndrome
Hydrocephalus, Decreased response to growth hormone stimulation test, Short stature, Bifid uvula,... ORPHA:254516
Cri-Du-Chat Syndrome
Diastasis recti, High palate, Hypospadias, Short philtrum, Short neck, Anterior open-bite maloccl... OMIM:123450
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
High palate, Anal atresia, Hydrocele testis, Ureteral hypoplasia, Atrial septal defect, Congenita... OMIM:614080
Atelosteogenesis, Type Ii
Cleft palate, Depressed nasal bridge, Short neck, Pulmonary hypoplasia, Stillbirth OMIM:256050
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Intrauterine growth retardation, Abnormality of the tongue, Hypoplasia of penis, Cle... ORPHA:2990
Genitopatellar Syndrome
Hip contracture, Atrial septal defect, Short stature, Multicystic kidney dysplasia, Long philtrum... ORPHA:85201
Legionnaires Disease
Pancreatitis, Splenomegaly, Endocarditis, Hematuria, Myocarditis, Arrhythmia, Hypotension, Abnorm... ORPHA:549
Generalized Arterial Calcification Of Infancy
Cortical nephrocalcinosis, Medullary nephrocalcinosis, Transient ischemic attack, Hypertension, H... ORPHA:51608
Lymphedema-Distichiasis Syndrome