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 3.17×10-06

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 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
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 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Embryo LacZ

LacZ images wholemount

8 Images

Echo

M-Mode Images

28 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 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 B FCS file(s)

8 Images

Immunophenotyping

Panel A 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, Hand tremor, Action tremor OMIM:190300
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention 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, Slurred speech, Ataxia OMIM:613227
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Abdominal situs inversus, Intestinal malrotation, Dextrocardia, Double ou... OMIM:605376
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus OMIM:611092
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Aortopulm... OMIM:208530
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... OMIM:617205
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... OMIM:270100
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Right aortic arch with mirror image branching, Dextrocardia, Pulmo... OMIM:606217
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Broad nasal tip, Oligohydramnios, Ventricular septal defect, Lymphedema, Pa... OMIM:601927
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, ... ORPHA:3405
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Premature birt... ORPHA:1909
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent pneumonia OMIM:611884
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Recurrent sinusitis, Atelectasi... OMIM:615067
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Dextrocardia, Sinusitis, Recurrent r... OMIM:615482
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Cleft palate, Right aortic arch, Transp... OMIM:231060
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries OMIM:614779
Parkinson Disease 17
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Narrow palate, Oligohydramnios, Ventricular septal defect, Fetal akinesia sequen... OMIM:617022
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy ORPHA:295
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:168100
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Paroxysmal dyskinesia OMIM:611031
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Right aortic arch, Situs inversus totalis, Bronchiectasis OMIM:617577
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Nasal polyposis, Recurrent resp... OMIM:616037
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis OMIM:618948
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Abnormal heart morphology, Patent ductus arteriosus, Umbilical hernia... OMIM:618164
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Hemiballismus ORPHA:494526
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Absent inner and outer dynein arms, Dextrocardia, Chronic... OMIM:618063
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Bronchiectasis, Dextrocardia, Chronic sinusitis, Abnormal respiratory mot... OMIM:614679
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Single ventricle, Ventricular septal defect, Mitra... OMIM:306955
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:614561
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Catel-Manzke Syndrome
Ventricular septal defect, Coarctation of aorta, Camptodactyly, Umbilical hernia, Dextrocardia, I... OMIM:616145
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palat... ORPHA:3426
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Diastasis recti, Ventricular septal defect, Abnormal heart morphology, Large plac... ORPHA:254534
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate, Prominent nose OMIM:221950
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Dystonia 27
Postural tremor, Action tremor OMIM:616411
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Absent inner and outer dynein arms, Dext... OMIM:606763
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Transaldolase Deficiency
Atrial septal defect, Hydrops fetalis, Biventricular hypertrophy, Edema, Coarctation of aorta ORPHA:101028
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Patent ductus arteriosus, Wide nasal bridge, Dextrocardia, Anal atresia,... ORPHA:2863
Klippel-Trénaunay Syndrome
Atrial septal defect, Hydrops fetalis, Cellulitis, Gastrointestinal hemorrhage, Abnormal tricuspi... ORPHA:90308
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Upp... ORPHA:101110
Thoracoabdominal Syndrome
Patent ductus arteriosus, Omphalocele, Ectopia cordis, Cleft palate, Pulmonary hypoplasia, Congen... OMIM:313850
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... OMIM:618845
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Gastroschisis, Ectopic anus, Hypoplastic left heart, Cleft palate ORPHA:2476
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Chorea, Benign Familial
Chorea OMIM:215450
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Inguinal hernia, Congenital diaphragmatic hernia, Cleft palate, Abnormal cardiac se... OMIM:614294
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... ORPHA:244
Dextrocardia
Meckel diverticulum, Situs inversus totalis, Congenital malformation of the great arteries, Abnor... ORPHA:1666
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Donnai-Barrow Syndrome
Short nose, Ventricular septal defect, Intestinal malrotation, Omphalocele, Umbilical hernia, Con... ORPHA:2143
Achondrogenesis
Polyhydramnios, Thickened nuchal skin fold, Hydrops fetalis, Short nose, Umbilical hernia, Inguin... ORPHA:932
Hydrops Fetalis
Polyhydramnios, Increased placental thickness, Abnormal heart morphology, Lymphedema, Pleural eff... ORPHA:1041
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Pulmonary edema, Non... OMIM:617300
Mulibrey Nanism
Enamel hypoplasia, Myocardial fibrosis, Hydrops fetalis, Hypoplastic frontal sinuses, Wide nasal ... OMIM:253250
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Polyhydramnios, Hematochezia, Ventricular septal defect, Intestinal malrotatio... OMIM:243150
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Omphalocele
Premature birth, Omphalocele ORPHA:660
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis OMIM:615994
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia, Nonimmune hydrops fetalis, Anteverted nares OMIM:613124
Kagami-Ogata Syndrome
Polyhydramnios, Diastasis recti, Atrial septal defect, Ventricular septal defect, Flexion contrac... OMIM:608149
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Thickened nuchal skin fold, Underdeveloped nasal alae, Abnormal heart morphology,... OMIM:263210
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Abnormal a... OMIM:613807
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Abnormal tricuspid valve morphology, Intestinal malrotation, Dextrocardi... ORPHA:1759
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... OMIM:618316
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Hydrops fetalis, Arteria lusoria, Inguinal hernia, Edema, Mitral stenosis, Tri... OMIM:212093
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Fetal akinesia sequence, Flexion contracture, Dilated cardiomyopathy, Hypertroph... OMIM:618815
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Nonimmune hydrops fetalis, Cardiomyopathy, Abnormality of the amniotic fluid OMIM:608540
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Wide nasal bridge, Ventricular septal defect ORPHA:93267
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Teebi Hypertelorism Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Omphalocele, Wide nasal bridge, Depr... OMIM:145420
Spondylocostal Dysostosis 4, Autosomal Recessive
Unilateral vertebral artery hypoplasia, Dextrocardia, Situs inversus totalis OMIM:613686
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect OMIM:615297
Trisomy 1Q
Polyhydramnios, Camptodactyly of finger, Hydrops fetalis, Ventricular septal defect, Patent ductu... ORPHA:261344
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Premature birth, Cardiomegaly, Ascites, High palate, Anteverted nares OMIM:269920
Neuraminidase Deficiency
Hydrops fetalis, Facial edema, Inguinal hernia, Cardiomegaly, Ascites, Cherry red spot of the mac... OMIM:256550
Glycogen Storage Disease Iv
Polyhydramnios, Arthrogryposis multiplex congenita, Hydrops fetalis, Esophageal varix, Decreased ... OMIM:232500
Sandestig-Stefanova Syndrome
Camptodactyly, Wide nasal bridge, Decreased fetal movement, Perimembranous ventricular septal def... OMIM:618804
Spinal Muscular Atrophy, Type I
Decreased fetal movement, Atrial septal defect, Recurrent respiratory infections, Ventricular sep... OMIM:253300
Boomerang Dysplasia
Polyhydramnios, Hydrops fetalis, Omphalocele, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia... ORPHA:1263
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Robinow Syndrome, Autosomal Recessive 2
Absent uvula, Short nose, Camptodactyly, Omphalocele, Wide nasal bridge, Bicuspid aortic valve, B... OMIM:618529
Achondrogenesis Type 1B
Polyhydramnios, Thickened nuchal skin fold, Hydrops fetalis, Short nose, Umbilical hernia, Aplasi... ORPHA:93298
Parkinson Disease 19A, Juvenile-Onset
Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:615528
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Dysmetria OMIM:616127
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly, Patent ductus arteriosus, Pulmoni... OMIM:179613
Esophageal Atresia
Polyhydramnios, Morphological abnormality of the gastrointestinal tract, Laryngotracheomalacia, C... ORPHA:1199
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:600116
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Gastroesophageal reflux, Pulmonic stenosis, Ascites, Chyloperi... ORPHA:2414
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Achondrogenesis Type 1A
Polyhydramnios, Thickened nuchal skin fold, Hydrops fetalis, Short nose, Umbilical hernia, Aplasi... ORPHA:93299
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Hypertrophic cardiomyopathy OMIM:613673
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Abnormal heart morphology, Camptodactyly, Patent ductus arteriosus, Perimem... ORPHA:363444
Fryns Syndrome
Polyhydramnios, Thickened nuchal skin fold, Abnormal aortic arch morphology, Abnormal aortic morp... ORPHA:2059
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft lip and palate, Omphalocele, Ventricular septal defect OMIM:601357
Sonoda Syndrome
Depressed nasal bridge, Ventricular septal defect OMIM:270460
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Fetal Minoxidil Syndrome
Depressed nasal bridge, Umbilical hernia, Ventricular septal defect ORPHA:1918
Miller-Dieker Syndrome
Polyhydramnios, Short nose, Anteverted nares, Omphalocele ORPHA:531
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Omphalocele, Abnormal pericardium morphology, Cl... ORPHA:1335
Floating-Harbor Syndrome
Atrial septal defect, Umbilical hernia, Inguinal hernia, Mesocardia, Coarctation of aorta, Persis... OMIM:136140
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Poor fine motor coordination, Abnormal pyramidal sign, Ataxia, B... ORPHA:98762
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, Spasticity OMIM:607317
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Generalized edema OMIM:618773
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Torticollis, Dys... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Babinski sign, Spasticity OMIM:615768
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Coronary Artery Dissection, Spontaneous
Coronary artery dissection OMIM:122455
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Umbilical hernia, Inguinal hernia, Edema, Breech presentation OMIM:600972
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Intention tremor, Frequent falls, Spastic dysarthria, ... ORPHA:314978
Lymphatic Malformation 6
Polyhydramnios, Atrial septal defect, Cellulitis, Prune belly, Pleural effusion, Lymphedema, Gast... OMIM:616843
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Renal Tubular Dysgenesis
Polyhydramnios, Oligohydramnios, Pulmonary hypoplasia, Premature birth, Tetralogy of Fallot ORPHA:3033
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Esophageal atresia, Wide nasal bridge, Doub... ORPHA:2209
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:619003
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Short nose, Ventricular septal defect, Pleural effusion, Flexion... OMIM:616897
Gastroschisis
Gastroschisis, Abdominal wall defect OMIM:230750
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis, Cardiomegaly OMIM:618052
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Isomerism, Atrioventricular canal defect, Tracheoesophageal fistula, Transposition ... OMIM:314390
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Parkinsonism... OMIM:128230
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Sp... OMIM:270500
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Autosomal Dominant Cutis Laxa
Abnormal heart valve morphology, Emphysema, Umbilical hernia, Pulmonic stenosis, Inguinal hernia,... ORPHA:90348
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Parkinsonism ORPHA:210571
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... ORPHA:3304
Constricting Bands, Congenital
Omphalocele, Ectopia cordis, Gastroschisis, Bladder exstrophy, Cleft palate, Abnormal lung lobation OMIM:217100
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis OMIM:159900
Diets-Jongmans Syndrome
Polyhydramnios, Broad nasal tip, Ventricular septal defect, Interrupted inferior vena cava with a... OMIM:618846
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis OMIM:613095
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Depressed nasal bridge, Omphalocele, Ventricular septal defect OMIM:617895
Primary Dystonia, Dyt13 Type
Postural tremor, Action tremor, Torticollis, Stereotypy, Involuntary movements ORPHA:98807
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria OMIM:610245
Fetal Encasement Syndrome
Bilateral trilobed lungs, Omphalocele, Decreased fetal movement, Protruding tongue, Congenital di... OMIM:613630
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... OMIM:618280
Dystonia 24
Head tremor, Torticollis, Blepharospasm OMIM:615034
Marden-Walker Syndrome
Zollinger-Ellison syndrome, Camptodactyly, Congenital contracture, Dextrocardia, Inguinal hernia,... OMIM:248700
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Misalignment of the pulmonary veins, Patent ductus arteriosus, Omphalocele, Intes... OMIM:265380
Isolated Trigonocephaly
Omphalocele, Wide nasal bridge ORPHA:3366
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Ventricular septal defect, ... OMIM:264480
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Preeclampsia ORPHA:163596
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic... OMIM:612474
Colonic Atresia
Colonic atresia, Abdominal situs inversus, Omphalocele, Gastroschisis, Peptic ulcer, Duodenal ste... ORPHA:1198
Vacterl/Vater Association
Polyhydramnios, Omphalocele, Laryngomalacia, Cleft palate, Single umbilical artery, Aplasia/Hypop... ORPHA:887
Sialidosis Type 2
Hydrops fetalis, Flexion contracture, Pedal edema, Umbilical hernia, Inguinal hernia, Ascites ORPHA:87876
Trisomy 13
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Patent ductus arteriosus, Herni... ORPHA:3378
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Gastroschisis
Gastroschisis, Intestinal atresia ORPHA:2368
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Acalvaria
Cleft palate, Omphalocele, Abnormal lung lobation ORPHA:945
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent sinusitis, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:300991
Gm1 Gangliosidosis
Camptodactyly of finger, Macroglossia, Hydrops fetalis, Ventricular septal defect, Abnormal heart... ORPHA:354
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Omphalocele, Cleft palate OMIM:258320
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Ataxia, Spasticity OMIM:615889
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Premature birth, Ascites ORPHA:2123
Donnai-Barrow Syndrome
Broad nasal tip, Short nose, Ventricular septal defect, Intestinal malrotation, Omphalocele, Umbi... OMIM:222448
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Intention tremor, Babinski sign, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Chromosome 9P Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Omphalocele, Choanal a... OMIM:158170
Dysplastic Cortical Hyperostosis
Polyhydramnios, Aplasia/Hypoplasia of the lungs, Hydrops fetalis ORPHA:2204
Mosaic Trisomy 9
Polyhydramnios, Camptodactyly of finger, Atrial septal defect, Hydrops fetalis, Bulbous nose, Oli... ORPHA:99776
Fetal Valproate Spectrum Disorder
Short nose, Omphalocele ORPHA:1906
Tetralogy Of Fallot
Tetralogy of Fallot, Abnormal nasal morphology ORPHA:3303
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Myoclonus ORPHA:363710
Mucopolysaccharidosis Type 7
Hydrops fetalis, Lymphedema, Abnormal pleura morphology, Umbilical hernia, Inguinal hernia, Ascit... ORPHA:584
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor OMIM:615048
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Babinski sign, Clonus OMIM:600363
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Pneumothorax, ... ORPHA:2257
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Choanal atresia, Esophageal atresia, Duodenal atresia, Muscular ventricular septal defect, Trache... OMIM:619227
Poland Syndrome
Dextrocardia OMIM:173800
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Antev... OMIM:601163
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:314632
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Dysmetria, Intention tremor OMIM:616053
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia, Intestinal malrotation, Omphalocele OMIM:236640
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity ORPHA:98763
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia, Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Partial diaphragmatic absence of pericardium, Meckel diverticulum, Atria... ORPHA:2847
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Low 1-minute APGAR score, ... ORPHA:99125
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Polyhydramnios, Abnormality of the gastrointestinal tract, Intestinal malrotation, Omphalocele, U... ORPHA:2241
Mosaic Trisomy 1
Polyhydramnios, Camptodactyly of finger, Ventricular septal defect, Omphalocele, Wide nasal bridg... ORPHA:1692
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Omphalocele, Bicuspid aortic valve, Double outle... ORPHA:371428
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Omphalocele, Umbilical hernia, Depressed nasal bridge OMIM:275100
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Hydrops fetalis OMIM:276822
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... ORPHA:251282
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:608644
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Dou... ORPHA:477817
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Spasticity OMIM:615924
Triploidy
Polyhydramnios, Macroglossia, Intestinal malrotation, Omphalocele, Cleft palate, Abnormal cardiac... ORPHA:3376
Gm1-Gangliosidosis, Type I
Hydrops fetalis, Abnormal heart valve morphology, Inguinal hernia, Dilated cardiomyopathy, Cherry... OMIM:230500
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Behr Syndrome
Tremor, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Hand tremor, Vocal tremor ORPHA:420485
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Miller-Dieker Lissencephaly Syndrome
Polyhydramnios, Short nose, Abnormal heart morphology, Camptodactyly, Omphalocele, Wide nasal bri... OMIM:247200
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Head tremor, Action tremor, Progressive cerebellar ataxia, Parkinsonism, Dysm... OMIM:604326
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Wide nose, Ventricular septal defect ORPHA:251076
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torticollis OMIM:224500
Schisis Association
Omphalocele, Anal atresia, Congenital diaphragmatic hernia, Premature birth, Cleft palate, Trache... ORPHA:63862
Xk Aprosencephaly Syndrome
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Anal atresia, Abnormality of the... ORPHA:3469
Omphalocele, X-Linked
Omphalocele OMIM:310980
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus ORPHA:86814
Mucopolysaccharidosis, Type Vii
Hydrops fetalis, Recurrent upper respiratory tract infections, Abnormal heart valve morphology, F... OMIM:253220
Johanson-Blizzard Syndrome
Short nose, Underdeveloped nasal alae, Dextrocardia, Anal atresia, Edema, Abnormal cardiac septum... ORPHA:2315
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Pleural effusion, Pericardial effusion, Fetal distress, Fetal as... ORPHA:292
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Decreased fetal movement, Doub... OMIM:614886
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot, Long nose, Hern... ORPHA:2184
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Dysmetria, Spasticity OMIM:213200
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Minicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Hydrops fetalis, Increased connective tissue, Decreased fetal movement, Pulmonary... OMIM:255320
Distal Trisomy 15Q
Camptodactyly of finger, Omphalocele, Anal atresia, High palate, Prominent nasal bridge ORPHA:1707
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Action tremor ORPHA:464440
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Abnormal heart morphology OMIM:618300
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Hadziselimovic Syndrome
Prominent nasal bridge, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect,... OMIM:612946
Meacham Syndrome
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... ORPHA:3097
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Inguinal hernia, Biventricular hypertrophy OMIM:250951
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphrag... ORPHA:2437
Carpenter Syndrome 1
Atrial septal defect, Ventricular septal defect, Camptodactyly, Patent ductus arteriosus, Omphalo... OMIM:201000
Encephalopathy, Recurrent, Of Childhood
Incoordination, Truncal ataxia, Chorea, Babinski sign, Intention tremor, Athetosis, Choreoathetosis OMIM:130950
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Cleft palate, Congenital diaphragmatic her... ORPHA:1166
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Trigonocephaly 1
Meckel diverticulum, Omphalocele OMIM:190440
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Speech apraxia, Bradykinesia, Progressive extrapyramidal ... ORPHA:454887
Hypermanganesemia With Dystonia 2
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Spasticity OMIM:617013
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Bronchodysplasia, Wide nasal brid... OMIM:265300
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Pagod Syndrome
Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Omphalocele, Pul... ORPHA:991
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Laryngeal calcification, Hydrops fetalis, Premature birth OMIM:215045
Epilepsy, Progressive Myoclonic, 6
Tremor, Myoclonus, Ataxia OMIM:614018
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Chronic bronchitis OMIM:615451
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Combined Immunodeficiency-Enteropathy Spectrum
Polyhydramnios, Gastrointestinal atresia, Ventricular septal defect, Intestinal malrotation, Omph... ORPHA:436252
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Ciliary Dyskinesia, Primary, 13
Recurrent bronchitis, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Absent ou... OMIM:613193
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Choreoathetosis, Myoclonus OMIM:261630
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Ventricular septal defect, Tracheomalacia, Congenital diaphragmatic hernia, Coar... ORPHA:268249
Microphthalmia, Syndromic 12
Broad nasal tip, Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary... OMIM:615524
Axial Mesodermal Dysplasia Spectrum
Morphological abnormality of the gastrointestinal tract, Oligohydramnios, Gastroesophageal reflux... ORPHA:1834
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Opitz Gbbb Syndrome
Patent ductus arteriosus, Omphalocele, Congenital diaphragmatic hernia, Aortic root aneurysm, Pat... ORPHA:2745
Distal Trisomy 5Q
Short nose, Ventricular septal defect, Dextrocardia, Hernia, Prominent nasal bridge ORPHA:96097
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Gastroesophageal reflux, Abnormal aortic valve m... ORPHA:261197
Primary Intestinal Lymphangiectasia
Hydrops fetalis, Lymphedema, Pleural effusion, Pericardial effusion, Pedal edema, Ileus, Chylous ... ORPHA:90362
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrops fetalis, Increased placental thickness, Abnormal heart morphology, Flexion contracture, W... ORPHA:1865
C Syndrome
Short nose, Ventricular septal defect, Patent ductus arteriosus, Omphalocele, Wide nasal bridge, ... OMIM:211750
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Coarctation of aorta, Atrioventricular canal defect, High palate, Depressed nasal b... OMIM:618929
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Patent ductus arterio... ORPHA:488618
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Recurrent respiratory infections, Si... OMIM:615505
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Codas Syndrome
Enamel hypoplasia, Polyhydramnios, Atrial septal defect, Ventricular septal defect, Gastroesophag... OMIM:600373
Feingold Syndrome Type 1
Tricuspid atresia, Gastrointestinal atresia, Interrupted aortic arch, Abnormal heart morphology, ... ORPHA:391641
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Fibrochondrogenesis 1
Hydrops fetalis, Short nose, Camptodactyly, Omphalocele, Joint contracture of the hand, Cleft pal... OMIM:228520
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... ORPHA:2326
Prune Belly Syndrome
Atrial septal defect, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Intes... ORPHA:2970
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, High palate, Tetralogy of Fallot, Tr... ORPHA:1913
Ciliary Dyskinesia, Primary, 9
Recurrent sinusitis, Situs inversus totalis, Pneumonia, Bronchiectasis OMIM:612444
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Oligohydramnios, Pulmonic stenosis, Aortic valve sten... OMIM:615415
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Premature birth, Cardiomegaly OMIM:618838
Focal Dermal Hypoplasia
Camptodactyly of finger, Abnormal dental enamel morphology, Diastasis recti, Ventricular septal d... ORPHA:2092
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Camptodactyl... OMIM:614262
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Short nose, Ventricular septal defect, Camptodactyly, Patent ductus arte... OMIM:616894
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Frequent falls, Spasticity OMIM:616719
Lymphatic Malformation 1
Cellulitis, Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Predominantly l... OMIM:153100
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Atrial septal defect, Hydrops fetalis, Pulmonary hypoplasia, Congenital diaphragm... OMIM:616546
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pneumonia, Bronchitis, Cardiomegaly, Patent ... OMIM:601005
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Atrial septal defect, Oligohydramnios, Ventricular septal defect, Anal stenosis, ... OMIM:300373
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor ORPHA:210128
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Spasticity ORPHA:521406
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Abnormal pyramidal sign, Parkinsonism, Upper motor neuron dysfunction... ORPHA:216873
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Chronic sinusitis, Recurrent respiratory... OMIM:617092
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Inguinal hernia, Patent forame... OMIM:601450
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Arthrogryposis multiplex congenita, Gastroesophageal reflux ORPHA:250994
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Myoclonus, Dysmetria OMIM:619028
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Single umbilical artery, Cleft palate, Abn... ORPHA:1926
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Median cleft lip and palate, Ventricular septal defect, Patent ductus arteriosus,... OMIM:269860
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
8P Inverted Duplication/Deletion Syndrome
Abnormal heart morphology, High, narrow palate, Wide nasal bridge, Dextrocardia, Tetralogy of Fal... ORPHA:96092
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... OMIM:614954
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Hamartoma of tongue, Coarcta... OMIM:217085
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Melnick-Needles Syndrome
Abnormal cardiac septum morphology, Recurrent respiratory infections, Omphalocele ORPHA:2484
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:249670
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Methimazole Embryofetopathy
Polyhydramnios, Ventricular septal defect, Abnormal aortic morphology, Choanal atresia, Esophagea... ORPHA:1923
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Torticol... ORPHA:397946
Trigonocephaly With Short Stature And Developmental Delay
High palate, Inguinal hernia, Wide nasal bridge, Ventricular septal defect OMIM:314320
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Myoclonus OMIM:608105
Floating-Harbor Syndrome
Atrial septal defect, Broad nasal tip, Gastroesophageal reflux, Mesocardia, Coarctation of aorta,... ORPHA:2044
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Fetal akinesia sequence, Flexion contracture, Esophageal varix, Ascites, Nonimmun... ORPHA:367
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Short nose, Ventricular septal defect, Abnormal heart m... ORPHA:401935
Holoprosencephaly-Postaxial Polydactyly Syndrome
Polyhydramnios, Intestinal malrotation, Omphalocele, Umbilical hernia, Anal atresia, Cleft palate... ORPHA:2166
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Myopathy With Extrapyramidal Signs
Chorea, Tremor, Ataxia, Abnormality of extrapyramidal motor function OMIM:615673
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Polyhydramnios, Arthrogryposis multiplex congenita, Ventricular septal defect, Pulmonic stenosis,... OMIM:301056
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia, Parkinso... OMIM:300894
Primary Dystonia, Dyt2 Type
Involuntary movements, Tremor, Blepharospasm, Torticollis ORPHA:99657
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Cleft palate, Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect OMIM:601355
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Omphalocele OMIM:614450
Glut1 Deficiency Syndrome 2
Tremor, Choreoathetosis, Ataxia OMIM:612126
German Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Lymphedema, Dysphagia, Wide nasal br... ORPHA:2077
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity OMIM:615010
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Gastr... ORPHA:2306
Isolated Anencephaly
Maternal diabetes, Maternal fever in pregnancy, Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Resting tremor, Bradykinesia, Rigidity ORPHA:306692
Huntington Disease-Like 2
Chorea, Rigidity, Bradykinesia, Action tremor OMIM:606438
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Hyper... OMIM:615382
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Inguinal hernia, Wide nasal bridge, Ventricular septal defect ORPHA:3369
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Hydrops fetalis, Fetal akinesia sequence, Flexion contracture... ORPHA:85212
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology, Recurrent sinusitis, Situs inversus totalis, Chron... OMIM:612518