Gene Summary

Name:
N-acetyltransferase 8 (GCN5-related) family member 5
Synonyms:
1810018F03Rik,  Cml5

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
tremors Nat8f5tm1b(EUCOMM)Wtsi HOM Early adult 2.71×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 50% (1 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 50% (1 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote Not available
Ear N/A homozygote Not available
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote Not available
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A homozygote Not available
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote Not available
Tail somite N/A heterozygote Not available
Tail somite N/A homozygote Not available
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 587)
aorta 0.17% (1 of 592)
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
esophagus 1.69% (7 of 414)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 586)
oral epithelium 0.0%
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
uterus 0.34% (2 of 589)
vascular system 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 1.25% (6 of 479)
ear 0.21% (1 of 469)
embryo 0.43% (2 of 469)
eye 0.21% (1 of 473)
footplate 0.21% (1 of 472)
forebrain 0.22% (1 of 465)
forelimb 0.21% (1 of 472)
handplate 0.21% (1 of 479)
head 0.84% (4 of 475)
heart 0.21% (1 of 467)
hindbrain 1.04% (5 of 479)
hindlimb 0.21% (1 of 477)
liver 0.21% (1 of 478)
lung 0.21% (1 of 467)
mandibular process 0.21% (1 of 469)
maxillary process 0.21% (1 of 477)
midbrain 0.21% (1 of 468)
oral cavity 0.21% (1 of 470)
skin 0.21% (1 of 474)
tail 0.21% (1 of 474)
tail somite group 0.21% (1 of 483)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Embryo LacZ

LacZ images wholemount

8 Images

Echo

M-Mode Images

28 Images

Adult LacZ

LacZ Images Wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Auditory Brain Stem Response

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

5 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Human diseases caused by Nat8f5 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 Nat8f5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Glutathionuria
Tremor OMIM:231950
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... OMIM:605376
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Right Atrial Isomerism
Atrial septal defect, Inguinal hernia, Pulmonic stenosis, Single ventricle, Right atrial isomeris... OMIM:208530
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity ORPHA:401840
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Cerebellar Ataxia And Albinism
Ataxia, Head tremor OMIM:258300
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Fetal Encasement Syndrome
Decreased fetal movement, Congenital diaphragmatic hernia, Tetralogy of Fallot, Omphalocele OMIM:613630
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia, Single umbilical artery, Hydrops fetalis, Ventricular septa... ORPHA:3405
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Premature birth, Ventricular septal defect, Oligohydramnio... ORPHA:1909
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... OMIM:614561
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Lymphedema, Pa... OMIM:601927
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory ... OMIM:615482
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Chromosome 1P36 Deletion Syndrome, Proximal
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Campto... OMIM:619343
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft palate, Ventricular septal defect, Transposition of the grea... OMIM:231060
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Lethal Congenital Contracture Syndrome 10
High palate, Narrow palate, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Pulmonar... OMIM:617022
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Hydrops fetalis, Ascites ORPHA:295
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, R... OMIM:615067
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Thickened nuchal skin f... OMIM:618164
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch, Bronchiectasis OMIM:617577
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Cleft palate, Inguinal herni... OMIM:614294
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Ferguson-Bonni Neurodevelopmental Syndrome
High palate, Congenital diaphragmatic hernia, Coronary-pulmonary artery fistula, Patent foramen o... OMIM:619699
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus OMIM:616921
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Tremor, Hemiballismus, Chorea ORPHA:494526
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia, Recurrent pneumonia, Bronchiectasis OMIM:611884
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Parkinson Disease 17
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Dystonia 24
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor OMIM:615034
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... ORPHA:99657
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Large placenta, Ventricular septal defect, Polyhydramnios, Omphalocele, Umbilica... ORPHA:254534
Catel-Manzke Syndrome
High palate, Cleft palate, Inguinal hernia, Glossoptosis, Coarctation of aorta, Camptodactyly, Ve... OMIM:616145
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:600116
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:618063
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory i... OMIM:616037
Parkinson Disease 22, Autosomal Dominant
Tremor, Bradykinesia, Resting tremor OMIM:616710
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Transaldolase Deficiency
Atrial septal defect, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Edema ORPHA:101028
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis OMIM:614679
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Atrial septal defect, Cellulitis, Hydrops fetalis, Patent ductu... ORPHA:90308
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, Limb dystonia OMIM:614860
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Cleft palate, Heterotaxy, Pulmonic stenosi... ORPHA:3426
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Omphalocele, Umbilical hernia, ... ORPHA:1686
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Cleft palate, Ectopia cordis, Ventral hernia, Pulmonary hypoplas... OMIM:313850
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrioventricular canal defect, Ventricular septal defect, Omphalocele, C... OMIM:306955
Hydrops Fetalis
Nonimmune hydrops fetalis, Abnormality of the gastrointestinal tract, Polyhydramnios, Twin-to-twi... ORPHA:1041
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... OMIM:618280
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Hypoplastic left heart, Cleft palate, Ventricular septal defect, Gastroschisis ORPHA:2476
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return, Recurrent respiratory infections OMIM:106700
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Postural tremor ORPHA:210571
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Dextrocardia
Congenital malformation of the great arteries, Intestinal malrotation, Abnormal lung lobation, Si... ORPHA:1666
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Lymphatic Malformation 7
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Omphalocele
Premature birth, Omphalocele ORPHA:660
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Blepharospasm, Torsion dystonia OMIM:224500
Chorea, Benign Familial
Chorea OMIM:215450
Cardiomyopathy, Familial Restrictive, 6
Pulmonic stenosis, Restrictive cardiomyopathy, Hydrops fetalis, Ascites OMIM:619433
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Thickened nuchal skin fold, Abnormal lung l... OMIM:263210
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Neuraminidase Deficiency
Facial edema, Cherry red spot of the macula, Inguinal hernia, Hydrops fetalis, Ascites, Bone-marr... OMIM:256550
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal ... OMIM:618815
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Camptodactyly of finger, Dextrocardia, Duodenal stenosis, Abnormal tricus... ORPHA:1759
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Congenital Disorder Of Glycosylation, Type Ik
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Cardiomyopathy, Flexion contracture OMIM:608540
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Camptodactyly of finger, Dextrocardia, Patent ductus arteriosus ORPHA:2863
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Recurrent sinopulmonary infecti... ORPHA:244
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Aortic valve stenosis, Atrial septal defect, Hypopla... OMIM:220210
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Inguinal hernia, Hydrops fetalis, A... OMIM:212093
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate OMIM:221950
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Unilateral vertebral artery hypoplasia OMIM:613686
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Enterocolitis, Intestinal atresia, Intestinal malrotation, Ileal atresia, Hemat... OMIM:243150
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Nonimmune hydrops fetalis, Hydrops fetalis, Pulmonary hypoplasia OMIM:613124
Ciliary Dyskinesia, Primary, 22
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Re... OMIM:615444
Glycogen Storage Disease Iv
Hydrops fetalis, Polyhydramnios, Esophageal varix, Arthrogryposis multiplex congenita, Edema, Asc... OMIM:232500
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Gastroesophageal reflux, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, ... ORPHA:2414
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor OMIM:302500
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Stroke, Myofiber disarray, Pulmonary edema, Muscular ventricular septal... OMIM:115197
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... OMIM:618300
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Heterotaxy, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recu... OMIM:613807
Dystonia 7, Torsion
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... OMIM:602124
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Duodenal atresia, Atrial septal defect, Double inlet left ventricl... OMIM:270100
Achondrogenesis
Inguinal hernia, Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios, Umbilical hernia, A... ORPHA:932
Kagami-Ogata Syndrome
Diastasis recti, Atrial septal defect, Inguinal hernia, Flexion contracture, Pulmonic stenosis, V... OMIM:608149
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor OMIM:617863
Lymphatic Malformation 12
Recurrent upper and lower respiratory tract infections, Fetal pericardial effusion, Inguinal hern... OMIM:620014
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Nonimmune hydrops fetalis... OMIM:265380
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... OMIM:619371
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Intestinal malrotation, Ventricular septal defect, Umbilical her... ORPHA:2143
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Mulibrey Nanism
Myocardial fibrosis, Hydrops fetalis, Recurrent lower respiratory tract infections, Enamel hypopl... OMIM:253250
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Polyhydramnios, Omphalocel... ORPHA:1263
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion OMIM:618773
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Pulmonary hypoplasia, Cardiomyopathy OMIM:619003
Fryns Syndrome
High palate, Abnormal cardiac septum morphology, Ectopic anus, Anal atresia, Aganglionic megacolo... ORPHA:2059
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Bilateral cleft lip and palate, Omphalocele OMIM:601357
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Omphalocele ORPHA:93267
Pentalogy Of Cantrell
Atrial septal defect, Congenital diaphragmatic hernia, Abnormal pericardium morphology, Cleft pal... ORPHA:1335
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... ORPHA:101109
Infantile Sialic Acid Storage Disease
High palate, Hydrops fetalis, Ascites, Premature birth, Cardiomegaly OMIM:269920
Trisomy 1Q
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Camptodactyly of finger, Hydrops fet... ORPHA:261344
Sandestig-Stefanova Syndrome
High palate, Muscular ventricular septal defect, Camptodactyly, Perimembranous ventricular septal... OMIM:618804
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios, Femoral hernia, Umbilical hernia, Ap... ORPHA:93298
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Esophageal Atresia
Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Pyloric stenosis, Pulmonary h... ORPHA:1199
Gastroschisis
Gastroschisis, Abdominal wall defect OMIM:230750
Lymphatic Malformation 6
Atrial septal defect, Chylothorax, Gastroesophageal reflux, Prune belly, Cellulitis, Facial edema... OMIM:616843
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordination OMIM:130950
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Joint contracture of the hand, Pulmonic sten... OMIM:179613
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity OMIM:615768
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr... ORPHA:454887
Renal Tubular Dysgenesis
Tetralogy of Fallot, Polyhydramnios, Pulmonary hypoplasia, Oligohydramnios, Premature birth ORPHA:3033
Achondrogenesis, Type Ib
Inguinal hernia, Hydrops fetalis, Polyhydramnios, Edema, Umbilical hernia, Breech presentation OMIM:600972
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios, Femoral hernia, Umbilical hernia, Ap... ORPHA:93299
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia OMIM:605909
Parkinson Disease 21
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:616361
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Coronary artery fistula, Patent ductus arteriosus, Atrial septal defect OMIM:620024
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia OMIM:615924
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Anal atresia, Atrial septal defect, Velopharyngeal insufficiency, Muscular ventricular septal def... ORPHA:363444
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti... OMIM:270500
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Nonimmune hydrops fetalis,... OMIM:618052
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Camptodactyly, Ventral hernia, Omphalocele, Absent uvula OMIM:618529
Constricting Bands, Congenital
Cleft palate, Bladder exstrophy, Abnormal lung lobation, Ectopia cordis, Omphalocele, Gastroschisis OMIM:217100
Gastroschisis
Intestinal atresia, Gastroschisis ORPHA:2368
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... OMIM:604326
Sialidosis Type 2
Inguinal hernia, Flexion contracture, Hydrops fetalis, Pedal edema, Umbilical hernia, Ascites ORPHA:87876
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Isomerism, Transposition ... OMIM:314390
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Flexion contracture, Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Pu... OMIM:616897
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Colonic Atresia
Abdominal situs inversus, Peptic ulcer, Colonic atresia, Omphalocele, Duodenal stenosis, Gastrosc... ORPHA:1198
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Anal atresia, Atrial septal defect, Coarctation of aorta, Ventricular septal d... OMIM:264480
Hb Bart'S Hydrops Fetalis
Hydrops fetalis, Preeclampsia, Polyhydramnios, Pericarditis, Oligohydramnios ORPHA:163596
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia OMIM:610245
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... ORPHA:251282
Acalvaria
Omphalocele, Cleft palate, Abnormal lung lobation ORPHA:945
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis OMIM:300991
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... OMIM:617284
Diets-Jongmans Syndrome
Duodenal atresia, Congenital diaphragmatic hernia, Inguinal hernia, Heterotaxy, Ventricular septa... OMIM:618846
Trisomy 13
Atrial septal defect, High, narrow palate, Cleft palate, Hydrops fetalis, Abnormal lung lobation,... ORPHA:3378
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Omphalocele OMIM:258320
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Pedal edema, ... ORPHA:439
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... ORPHA:521406
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia, Omphalocele OMIM:617895
Diffuse Neonatal Hemangiomatosis
Hydrops fetalis, Polyhydramnios, Patent ductus arteriosus, Ascites, Premature birth ORPHA:2123
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia, Aortic root aneurysm, Omph... OMIM:145420
Marden-Walker Syndrome
High palate, High, narrow palate, Cleft palate, Inguinal hernia, Joint contracture of the hand, C... OMIM:248700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Intestinal malrotation, Abnormality of the gastrointestinal tract, Polyhyd... ORPHA:2241
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of... ORPHA:3304
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Cleft palate, Dextrocardia, Pulmonary hypoplasia, Pneumothorax, Ab... ORPHA:2257
Mucopolysaccharidosis Type 7
Arteriovenous malformation, Inguinal hernia, Hydrops fetalis, Abnormal pleura morphology, Lymphed... ORPHA:584
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Gm1 Gangliosidosis
Gastroesophageal reflux, Cherry red spot of the macula, Macroglossia, Aspiration pneumonia, Ingui... ORPHA:354
Dysplastic Cortical Hyperostosis
Polyhydramnios, Aplasia/Hypoplasia of the lungs, Hydrops fetalis ORPHA:2204
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Congenital... ORPHA:2847
Maternal Phenylketonuria
Double outlet right ventricle, High palate, Hypoplastic left heart, Coarctation of aorta, Tetralo... ORPHA:2209
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:614251
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Hydrocephalus With Associated Malformations
Intestinal malrotation, Pulmonary hypoplasia, Omphalocele OMIM:236640
Vacterl/Vater Association
Abnormal cardiac septum morphology, Anal atresia, Congenital diaphragmatic hernia, Cleft palate, ... ORPHA:887
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity ORPHA:363710
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Mosaic Trisomy 9
High palate, Atrial septal defect, Cleft palate, Intestinal malrotation, Camptodactyly of finger,... ORPHA:99776
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... ORPHA:371428
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity OMIM:600363
Poland Syndrome
Dextrocardia OMIM:173800
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia OMIM:615010
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia ORPHA:98763
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Miller-Dieker Syndrome
Polyhydramnios, Omphalocele ORPHA:531
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect, Pulmonary hy... ORPHA:99125
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia OMIM:615297
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Gm1-Gangliosidosis, Type I
Inguinal hernia, Cherry red spot of the macula, Hydrops fetalis, Dilated cardiomyopathy, Abnormal... OMIM:230500
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Dystonia OMIM:128235
Triploidy
Abnormal cardiac septum morphology, Macroglossia, Cleft palate, Intestinal malrotation, Polyhydra... ORPHA:3376
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis OMIM:608644
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Cleft palate, Camptodactyly of finger, Coarctation of aorta, Pul... ORPHA:1692
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture OMIM:122850
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Omphalocele OMIM:601163
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Omphalocele, X-Linked
Omphalocele OMIM:310980
Minicore Myopathy With External Ophthalmoplegia
High palate, Hydrops fetalis, Increased connective tissue, Polyhydramnios, Pulmonary hypoplasia, ... OMIM:255320
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis OMIM:620032
Congenital Enterovirus Infection
Hydrops fetalis, Premature birth, Myocarditis, Polyhydramnios, Cardiomyopathy, Pleural effusion, ... ORPHA:292
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor OMIM:210000
Czeizel-Losonci Syndrome
High palate, Thickened nuchal skin fold, Tracheoesophageal fistula, Aplasia of the left hemidiaph... ORPHA:2437
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia OMIM:261630
Sotos Syndrome
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Gastroesophageal reflux, M... OMIM:117550
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Inguinal hernia, Biventricular hypertrophy OMIM:250951
Down Syndrome
Double outlet right ventricle, Anal atresia, Atrial septal defect, Macroglossia, Atrioventricular... OMIM:190685
Trigonocephaly 1
Meckel diverticulum, Omphalocele OMIM:190440
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Incoordination OMIM:213200
Huntington Disease-Like 2
Action tremor, Bradykinesia, Rigidity, Chorea, Dystonia OMIM:606438
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... ORPHA:3097
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Ab... ORPHA:1166
Carpenter Syndrome 1
High palate, Atrial septal defect, Joint contracture of the hand, Pulmonic stenosis, Tetralogy of... OMIM:201000
Alg12-Cdg
Gastroesophageal reflux, Abnormal adipose tissue morphology, Muscular ventricular septal defect, ... ORPHA:79324
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:477817
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Cellulitis, Nonimmune hydrops fetalis, Prominent superficial... OMIM:153100
Miller-Dieker Lissencephaly Syndrome
Abnormality of the abdominal wall, Duodenal atresia, Joint contracture of the hand, Cleft palate,... OMIM:247200
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Ciliary Dyskinesia, Primary, 23
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis OMIM:615451
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor OMIM:606658
Pagod Syndrome
Hypoplastic left heart, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary artery... ORPHA:991
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Dystonia ORPHA:324588
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... OMIM:300894
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Muscular ventricular septal defect, Tracheoesophageal fistula, Esophageal atres... OMIM:619227
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal atresia, Intestinal malrotation, Ventricular septal defect, Polyhydramnios, Rectal abs... ORPHA:436252
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Parkinson-Dementia Syndrome
Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism OMIM:260540
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Gastroesophageal reflux, Congenital diaphragmatic hernia, Morphological abnormality... ORPHA:1834
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Opitz Gbbb Syndrome
High palate, Anal atresia, Ectopic anus, Atrial septal defect, Congenital diaphragmatic hernia, C... ORPHA:2745
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... OMIM:164500
Dystonia 16
Bradykinesia, Laryngeal dystonia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Involuntary... OMIM:612067
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Schisis Association
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Tracheoesophageal fistula, Omphaloce... ORPHA:63862
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Gastroesophageal reflux, Cleft palate, Congenital diaphragmatic hernia, Abn... ORPHA:261197
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Chromosome 9P Deletion Syndrome
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Inguinal hernia, Ventricul... OMIM:158170
Hadziselimovic Syndrome
High palate, Anal atresia, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, V... OMIM:612946
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Macroglossia, Umbilical hernia OMIM:275100
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Nonimmune hydrops fetalis, Polyhydramnios, Dilated cardiomyopathy, Esophagea... ORPHA:367
Prune Belly Syndrome
Anal atresia, Atrial septal defect, Intestinal atresia, Intestinal malrotation, Aplasia of the ab... ORPHA:2970
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... ORPHA:71517
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia OMIM:618093
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Cleft palate, Pulmonary artery hypoplasia, Anomalous origin of lef... ORPHA:2326
Focal Dermal Hypoplasia
Abnormality of the pulmonary vasculature, Abnormal cardiac septum morphology, Duodenal atresia, D... ORPHA:2092
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Premature birth, Cardiomegaly OMIM:618838
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Diabetic Embryopathy
Cleft palate, Single umbilical artery, Aplasia/Hypoplasia of the abdominal wall musculature, Tetr... ORPHA:1926
Feingold Syndrome Type 1
Tricuspid atresia, Anal atresia, Duodenal atresia, Tricuspid stenosis, Patent ductus arteriosus, ... ORPHA:391641
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Hamartoma of tongue, Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarcta... OMIM:217085
Transketolase Deficiency
Atrial septal defect, Abnormal coronary artery course, Ventricular septal defect, Patent ductus a... ORPHA:488618
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Distal Trisomy 15Q
High palate, Anal atresia, Camptodactyly of finger, Omphalocele ORPHA:1707
Mucopolysaccharidosis, Type Vii
Macroglossia, Chronic bronchitis, Flexion contracture, Recurrent upper respiratory tract infectio... OMIM:253220
Free Sialic Acid Storage Disease
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Ascites, Recurrent respira... ORPHA:834
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Malabsorption, Anal atresia, Dextrocardia, Anteriorly placed ... ORPHA:2315
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
Isolated Dandy-Walker Malformation
Cleft palate, Tetralogy of Fallot ORPHA:217
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flexion contracture, Cleft palate, Hydrops fetalis, Increased placental thickness, Pulmonary hypo... ORPHA:1865
Fetal Gaucher Disease
High palate, Flexion contracture, Intracranial hemorrhage, Hydrops fetalis, Arthrogryposis multip... ORPHA:85212
Hydrocephaly-Low Insertion Umbilicus Syndrome
Hernia of the abdominal wall, Anomalous pulmonary venous return, Patent ductus arteriosus, Tetral... ORPHA:2184
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia OMIM:617836
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Intestinal malrotation, Ventricular septal defect, Umbilical her... OMIM:222448
Mirror Movements 3
Situs inversus totalis OMIM:616059
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... OMIM:614954
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... OMIM:606703
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Choreoathetosis, Dystonia OMIM:261640
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Pulmonic stenosis, Oligohydramnios, Situs inversus totalis, Pulmonary hypo... OMIM:615415
Short-Rib Thoracic Dysplasia 12
Inguinal hernia, Intestinal malrotation, Lobulated tongue, Ventricular septal defect, Hamartoma o... OMIM:269860
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Melnick-Needles Syndrome
Abnormal cardiac septum morphology, Recurrent respiratory infections, Omphalocele ORPHA:2484
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect, Pyloric stenos... OMIM:614262
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... OMIM:601005
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia OMIM:612716
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait ataxia,... OMIM:617145
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia OMIM:613095
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Intention tremor, Babinski sign, Abnormal pyramidal si... ORPHA:397946
Urocanic Aciduria
Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Floating-Harbor Syndrome
Atrial septal defect, Inguinal hernia, Coarctation of aorta, Umbilical hernia, Persistent left su... OMIM:136140
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... OMIM:606159
Alg9-Cdg
Atrial septal defect, Gastroesophageal reflux, Thickened nuchal skin fold, Hydrops fetalis, Bifid... ORPHA:79328
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Tremor ORPHA:1368
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
High palate, Dextrocardia, Coarctation of aorta, Atrioventricular canal defect OMIM:618929
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Omphalocele OMIM:614450
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity OMIM:619028
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal cardiac septum morphology, Anal atresia, Cleft palate, Intestinal malrotation, Abnormal ... ORPHA:2166
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Pulmonic stenosis, Pulmonary artery atresia, Ventricular septal de... OMIM:301056
Noonan Syndrome 12
Ventricular septal defect, Polyhydramnios, Anteriorly placed anus, Tetralogy of Fallot OMIM:618624
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Ciliary Dyskinesia, Primary, 27
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respir... OMIM:615504
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Ciliary Dyskinesia, Primary, 28
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respir... OMIM:615505
Microphthalmia, Syndromic 12
Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Hypoplastic lef... OMIM:615524
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Hydrops fetalis, Polyhydramn... OMIM:616546
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Pulmonary lymphangiectasia, Chylous ascites, Palpebral edema, Nonimmun... OMIM:265300
Xk Aprosencephaly Syndrome
Ventricular septal defect, Anal atresia, Atrial septal defect, Polyhydramnios ORPHA:3469
Parkinsonism With Polyneuropathy
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:619279
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Decreased fetal movement, Patent ductus arteriosus, Atrial septal ... OMIM:614886
Robinow Syndrome, Autosomal Dominant 3