Gene Summary

Name:
glycine decarboxylase
Synonyms:
D030049L12Rik,  D19Wsu57e,  b2b2679Clo

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
abnormal vertebral arch morphology Gldctm1a(EUCOMM)Wtsi HET   Early adult 2.29×10-05
preweaning lethality, complete penetrance Gldctm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

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 Forepaw

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Legacy Phenotype Associated Images

View all 90 images

Human diseases caused by Gldc mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Glycine Encephalopathy
Hyperglycinuria OMIM:605899

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Genitopalatocardiac Syndrome
Renal cyst, Cleft upper lip, Double outlet right ventricle, Micrognathia, Right aortic arch, Vent... OMIM:231060
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Fusion of gums, Abnormal mandible morphology, Irregular dentition, Diastema, Abn... ORPHA:401942
Microphthalmia, Syndromic 12
Broad nasal tip, Anophthalmia, Wide nasal bridge, Micrognathia, Congenital diaphragmatic hernia, ... OMIM:615524
Fetal Valproate Spectrum Disorder
Narrow mouth, Long philtrum, Depressed nasal ridge, Omphalocele, Thin vermilion border, Downturne... ORPHA:1906
Holzgreve Syndrome
Renal agenesis, Cleft upper lip, Renal hypoplasia, Hypoplastic left heart, Cleft palate OMIM:236110
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Dextrocardia, Micrognathia, Microphthalmia, Cleft palate, Prominent nose OMIM:221950
Mmep Syndrome
Microphthalmia, Ventricular septal defect, Mandibular prognathia, Oral cleft, Median cleft lip ORPHA:3434
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Scoliosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae OMIM:616566
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Depressed nasal ridge, Microphthalmia, Hyperechogenic kidneys, Cle... OMIM:613885
Thomas Syndrome
Cleft upper lip, Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia, ... ORPHA:3316
Anencephaly 2
Cleft of alveolar ridge of maxilla, Anophthalmia, Median cleft palate, Bifid nose, Median cleft lip OMIM:619452
Megalencephaly, Autosomal Dominant
Macrocephaly, Hydrocephalus OMIM:155350
Burn-Mckeown Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Cleft upper lip, Underdeveloped nasal alae, Atrial sep... OMIM:608572
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Cleft ala nasi, Non-midline cleft lip, Underdeveloped nasal alae, Convex nasal ridge, Wide nasal ... ORPHA:2007
Rhiny
Inguinal hernia, Anteverted nares, Short nose, Thin vermilion border OMIM:180360
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Long philtrum, Hydronephrosis, Pulmonic stenosis, Ventricular septal defect,... ORPHA:251076
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Long philtrum, Short nose OMIM:218010
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Abnormal palate morphology, Hydronephrosis, Anteverted nares, Short nose ORPHA:1450
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology, Unilateral cleft lip, Abnormal nasal base,... ORPHA:1919
Miller-Dieker Syndrome
Omphalocele, Abnormality of upper lip, Nephropathy, Anteverted nares, Short nose ORPHA:531
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Macrocephaly, Ventriculomegaly, Hydrocephalus OMIM:615938
Robinow Syndrome, Autosomal Recessive 2
Broad nasal tip, Absent uvula, Long philtrum, Ventral hernia, Wide nasal bridge, Micrognathia, Om... OMIM:618529
Van Der Woude Syndrome 2
Anodontia, Cleft upper lip, Cleft palate OMIM:606713
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Thin upper lip vermilion, Anteverted nares, Cleft palate, Short nose ORPHA:2015
14Q11.2 Microdeletion Syndrome
Narrow mouth, High palate, Long philtrum, Patent ductus arteriosus, Everted lower lip vermilion, ... ORPHA:261120
Alexander Disease
Increased CSF protein, Progressive macrocephaly, Hydrocephalus OMIM:203450
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Abnormality of the dentition, Atrial septal defect... OMIM:179613
Fryns Syndrome
Long philtrum, Hydronephrosis, Tented upper lip vermilion, Micrognathia, Multicystic kidney dyspl... ORPHA:2059
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cleft upper lip, Cleft palate, Hematuria OMIM:120433
Fetal Encasement Syndrome
Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney, Congen... OMIM:613630
Gonadal Dysgenesis, Xy Type, With Associated Anomalies
Short columella, Abnormal heart morphology, Cleft upper lip, Oral cleft OMIM:233430
Intellectual Disability, Wolff Type
Bulbous nose, Non-midline cleft lip, Thick lower lip vermilion, Wide nasal bridge, Inguinal herni... ORPHA:3080
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Bifid uvula, Cleft palate OMIM:258320
Palant Cleft Palate Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Bulbous nose, Exaggerated cu... OMIM:260150
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Glossoptosis, Cor pulmonale, Cleft palate OMIM:261800
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Wide nasal bridge, Micrognathia, Microphthalmia, Omphalocele, Ventricular septal ... ORPHA:93267
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Macrocephaly, Ventriculomegaly, Hydrocephalus OMIM:615937
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Trisomy 1Q
Narrow mouth, Anophthalmia, Patent ductus arteriosus, Hydronephrosis, Anal atresia, Congenital di... ORPHA:261344
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormality of lower lip, Tooth agenesis, Micrognathia, Congenital diaphragm... ORPHA:1166
17Q21.31 Microduplication Syndrome
High palate, Short philtrum, Micrognathia, Malar flattening, Abnormality of the dentition, Anteve... ORPHA:217340
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Chromosome 9P Deletion Syndrome
Narrow mouth, High palate, Long philtrum, Patent ductus arteriosus, Atrial septal defect, Micrope... OMIM:158170
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Hydronephrosis, Double outlet right ventricle, Pulmoni... OMIM:220210
Microphthalmia, Syndromic 9
Renal malrotation, Hydronephrosis, Micrognathia, Inguinal hernia, Single ventricle, Ventricular s... OMIM:601186
Primary Basilar Invagination
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine ORPHA:2285
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Disorganization, Mouse, Homolog Of
Multiple lipomas, Sacral lipoma, Cleft upper lip, Cleft palate OMIM:223200
Trisomy 13
Anophthalmia, Abnormality of the ureter, Long philtrum, Patent ductus arteriosus, Hernia, Atrial ... ORPHA:3378
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Oral cleft OMIM:611638
Frontonasal Dysplasia 1
Broad nasal tip, Tetralogy of Fallot, Hypoplastic frontal sinuses, Median cleft palate, Wide nasa... OMIM:136760
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Gastroschisis, Non-midline cleft lip, Hypoplastic left heart, Ventricular septal de... ORPHA:2476
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Anteverted nares, Hypospadi... ORPHA:1355
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Microcephaly, Macrocephaly, Ventriculomegaly, Hydrocephalus OMIM:618709
Non-Distal Trisomy 10Q
High palate, Everted lower lip vermilion, Aplasia/Hypoplasia affecting the eye, Convex nasal ridg... ORPHA:1695
Burn-Mckeown Syndrome
Abnormal palate morphology, Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge,... ORPHA:1200
Pallister-Hall-Like Syndrome
Micropenis, Micrognathia, Microglossia, Abnormal heart morphology, Depressed nasal bridge, Renal ... OMIM:241800
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Sonoda Syndrome
Narrow mouth, Depressed nasal bridge, Ventricular septal defect OMIM:270460
2p15-16.1 microdeletion syndrome
Hydronephrosis, Camptodactyly of finger, Optic disc hypoplasia DECIPHER:70
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Atypical scarring of skin, Congenital malformation of the great arteries, Abnorma... ORPHA:294975
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Long philtrum, Atrial septal defect, Intestinal malrotation, Wide nasal bridge, A... ORPHA:401935
Cleft Lip With Or Without Cleft Palate
Submucous cleft of soft and hard palate, Non-midline cleft palate, Non-midline cleft lip, Chronic... ORPHA:1991
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Macrocephaly, Ventriculomegaly OMIM:611808
Thoracoabdominal Syndrome
Renal agenesis, Cleft upper lip, Ventral hernia, Ectopia cordis, Patent ductus arteriosus, Congen... OMIM:313850
Tetraamelia Syndrome 2
Bilateral cleft lip, Micropenis, Micrognathia, Microretrognathia, Glossoptosis, Ventricular septa... OMIM:618021
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Wide n... OMIM:618316
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Bifid uvula, Abnormality of the urinary system ORPHA:2669
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
X-Linked Intellectual Disability, Siderius Type
Oral cleft, Broad nasal tip, Cleft upper lip ORPHA:85287
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
Schisis Association
Renal agenesis, Unilateral cleft lip, Tracheoesophageal fistula, Anal atresia, Congenital diaphra... ORPHA:63862
Diprosopus
Abnormality of the nose, Non-midline cleft lip, Cleft palate, Abnormal cardiac septum morphology ORPHA:1681
Atypical Teratoid Rhabdoid Tumor
Macrocephaly, Hydrocephalus ORPHA:99966
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Bifid uvula, Cleft upper lip, Patent ductus arteriosus, Atrial septal defect... OMIM:612561
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Broad nasal tip, Patent ductus arteriosus, Atrial septal defect, Omphalocele, V... OMIM:601927
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Broad nasal tip, Ectopic kidney, Cleft upper lip, Micrognathia, Abnormal heart morp... OMIM:239800
Pentalogy Of Cantrell
Renal agenesis, Tetralogy of Fallot, Abnormal pericardium morphology, Non-midline cleft lip, Atri... ORPHA:1335
Triploidy
Narrow mouth, Non-midline cleft lip, Intestinal malrotation, Aplasia/Hypoplasia affecting the eye... ORPHA:3376
Fanconi Anemia, Complementation Group R
Microcephaly, Growth delay, Hydrocephalus OMIM:617244
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormal palate morphology, Carious teeth, Multicystic kidney dysplasia, Prominent nasal bridge, ... ORPHA:3270
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Macrocephaly, Holopr... OMIM:617967
Diabetic Embryopathy
Tetralogy of Fallot, Ureteral duplication, Renal hypoplasia/aplasia, Micropenis, Hydronephrosis, ... ORPHA:1926
Microphthalmia With Limb Anomalies
High palate, Anophthalmia, Cleft upper lip, Flared nostrils, Deep philtrum, Microphthalmia, Depre... OMIM:206920
Microphthalmia, Syndromic 8
Cleft upper lip, Microphthalmia, Widely-spaced maxillary central incisors, Mandibular prognathia,... OMIM:601349
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Gingival fibromatosis, Micrognathia, Mandibular aplasia, Retrognathia, Med... ORPHA:1832
Distal Trisomy 15Q
High palate, Long philtrum, Anal atresia, Micrognathia, Omphalocele, Prominent nasal bridge, Camp... ORPHA:1707
Tetraploidy
Short philtrum, Hydronephrosis, Aplasia/Hypoplasia affecting the eye, Convex nasal ridge, Microgn... ORPHA:3305
Catel-Manzke Syndrome
Overriding aorta, High palate, Cleft upper lip, Dextrocardia, Coarctation of aorta, Micrognathia,... OMIM:616145
Solitary Median Maxillary Central Incisor
Pyriform aperture stenosis, Anosmia, Anophthalmia, Cleft upper lip, Solitary median maxillary cen... OMIM:147250
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Patent ductus arteriosus, Ureteral atresia, Bilateral renal agenesis, ... OMIM:618845
Fetal Minoxidil Syndrome
Umbilical hernia, Depressed nasal bridge, Ventricular septal defect, Micrognathia ORPHA:1918
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Underdeveloped nasal alae, Convex nasal ridge, Micrognathia, Polycystic kidn... OMIM:263210
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft lip and palate, Cleft upper lip, Ventricular septal defect OMIM:601357
Maternal Phenylketonuria
Deviated nasal septum, Tetralogy of Fallot, High palate, Long philtrum, Wide nasal bridge, Bladde... ORPHA:2209
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Perlman Syndrome
Broad alveolar ridges, Open mouth, Wide nasal bridge, Hypoplasia of penis, Micrognathia, High, na... ORPHA:2849
Spondylosis, Cervical
Spina bifida occulta, Spondylolysis, Spondylolisthesis, Cervical spondylosis OMIM:184300
Band Heterotopia
Macrocephaly, Ventriculomegaly, Hydrocephalus OMIM:600348
Charlie M Syndrome
Narrow mouth, Short philtrum, Non-midline cleft lip, Wide nasal bridge, Micrognathia, Tooth agene... ORPHA:1406
Donnai-Barrow Syndrome
Proteinuria, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Depressed nasa... ORPHA:2143
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Omphalocele, Retrognathia, Cleft palate ORPHA:2736
Mosaic Trisomy 1
Short upper lip, Renal cortical cysts, Renal cyst, Penile hypospadias, Micropenis, Thick lower li... ORPHA:1692
Anophthalmia Plus Syndrome
Anophthalmia, Non-midline cleft lip, Choanal atresia, Bilateral cleft lip and palate, Abnormal na... ORPHA:1104
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hypertension, Hydrocephalus OMIM:166990
Developmental Delay With Or Without Dysmorphic Facies And Autism
Hydronephrosis, Narrow nose, Micrognathia, Inguinal hernia, Thin upper lip vermilion, Cleft palat... OMIM:618454
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Tetralogy of Fallot, Bifid uvula, Enamel hypoplasia, Crossed fused renal... ORPHA:2919
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Patent ductus arteriosus, Hypoplasia of penis, Abnormality of the upper urinary tract, Micrognath... ORPHA:2547
Teebi Hypertelorism Syndrome 1
Long philtrum, Aortic root aneurysm, Atrial septal defect, Wide nasal bridge, Micrognathia, Natal... OMIM:145420
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Depressed nasal bridge, Retrognathia, Anteverted nares, Short nose OMIM:614069
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Recurrent upper respiratory tract infections, Micropenis, U-Shaped upper lip vermili... OMIM:300209
Fetal Alcohol Syndrome
Non-midline cleft lip, Atrial septal defect, Microdontia, Micrognathia, Congenital diaphragmatic ... ORPHA:1915
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Depressed nasal ridge, Hydronephrosis, Micrognathia, Hypoplastic left heart,... ORPHA:1727
Non-Syndromic Metopic Craniosynostosis
Omphalocele, Wide nasal bridge ORPHA:3366
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:601420
Kagami-Ogata Syndrome
Flexion contracture, Long philtrum, Patent ductus arteriosus, Diastasis recti, Atrial septal defe... OMIM:608149
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Depressed nasal bridge, Umbilical hernia, Macroglossia OMIM:275100
Orofaciodigital Syndrome Xvii
Tetralogy of Fallot, Micropenis, Renal hypoplasia, High, narrow palate, Retrognathia, Median clef... OMIM:617926
Verheij Syndrome
Renal agenesis, Renal cyst, Long philtrum, Renal hypoplasia, Wide nasal bridge, Thin upper lip ve... OMIM:615583
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart, Micrognathia OMIM:601348
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal spaced incisors, Broad nasal tip, Short philtrum, Anophthalmia, Bulbous nose, Everted lo... ORPHA:411986
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Long philtrum, Bulbous nose, Overhanging nasal tip, Hydronephrosis, Renal hypopla... OMIM:618494
Robinow Syndrome, Autosomal Dominant 3
Long philtrum, Hypoplastic right heart, Micrognathia, Ventricular septal defect, Cleft palate, Sh... OMIM:616894
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Weyers Ulnar Ray/Oligodactyly Syndrome
High palate, Solitary median maxillary central incisor, Cleft upper lip, Hydronephrosis, Microgna... OMIM:602418
Autosomal Recessive Amelia
Non-midline cleft lip, Hypoplasia of penis, Micrognathia, Oral cleft, Abnormal cardiac septum mor... ORPHA:1027
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Atrial septal defect, Everted lower lip vermilion, Tented upper lip vermilion, Cl... OMIM:616898
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Fetal Trimethadione Syndrome
High palate, Tetralogy of Fallot, Atrial septal defect, Micrognathia, Depressed nasal bridge, Ven... ORPHA:1913
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Underdeveloped nasal alae, Ventricular septal defect, Truncus arterios... OMIM:601355
Frontal Encephalocele
Macrocephaly, Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:172880
Adenylosuccinate Lyase Deficiency
Long philtrum, Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Short nose ORPHA:46
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Prune belly, Pulmonic stenosis, Hydroureter OMIM:264140
Baraitser-Winter Syndrome 1
Cleft upper lip, Long philtrum, Patent ductus arteriosus, Micropenis, Wide nasal bridge, Micropht... OMIM:243310
Omphalocele, Autosomal
Omphalocele, Inguinal hernia OMIM:164750
Cerebrooculonasal Syndrome
High palate, Anophthalmia, Solitary median maxillary central incisor, Long philtrum, Widely space... ORPHA:66625
Zechi-Ceide Syndrome
Cleft upper lip, Underdeveloped nasal alae, Oligodontia, Wide nasal bridge, Malar flattening, Wid... OMIM:612916
Hadziselimovic Syndrome
High palate, Tetralogy of Fallot, Atrial septal defect, Renal hypoplasia, U-Shaped upper lip verm... OMIM:612946
Orofacial Cleft 14
Median cleft lip OMIM:615892
17P13.3 Microduplication Syndrome
Narrow mouth, High palate, Hypoplasia of penis, Inguinal hernia, Wide nose, Short nose ORPHA:217385
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
C Syndrome
Accessory oral frenulum, High palate, Renal cortical cysts, Patent ductus arteriosus, Thick anter... OMIM:211750
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, High palate, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defec... ORPHA:3304
Maxillonasal Dysplasia
Depressed nasal ridge, Open bite, Microdontia, Tooth agenesis, Hypoplasia of the maxilla, Depress... ORPHA:1248
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Tented upper lip vermilion, Dextrocardia, Congenital diaphragmatic hernia, Ingui... OMIM:614294
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Renal hypoplasia, Micrognathia, Ventricular septal defect, Truncus arteriosus OMIM:228940
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Multicystic kidney dysplasia, Cardiomyopa... ORPHA:1909
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, Congenital diaphragmatic hernia, Microphthalmia, Depressed nasal bridge, Antever... OMIM:612530
Megabladder, Congenital
Multiple glomerular cysts, Patent ductus arteriosus, Atrial septal defect, Left ventricular nonco... OMIM:618719
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Abnormal palate morphology, Abnormal tricuspid valve morphology, Depressed nasal ri... ORPHA:2412
X-Linked Intellectual Disability, Abidi Type
Prominent nasal bridge, Cleft palate, Non-midline cleft lip ORPHA:85273
Hydrolethalus
Anophthalmia, Bifid uvula, Unilateral cleft lip, Micrognathia, Microphthalmia, Abnormality of the... ORPHA:2189
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Diffuse mesangial sclerosis, High palate, Nephrotic syndrome, IgA deposit... OMIM:616730
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Single naris, Absent nares, Anosmia, Anophthalmia, Bifid uvula, Failure of eruption of permanent ... ORPHA:2250
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Abnormality of the dentition, Thick upper lip vermilion, Mandibular prognathia, T... OMIM:226440
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, High palate, Long philtrum, Inguinal hernia, Thin upper lip vermilion, Umbilical... OMIM:613544
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Masa Syndrome
Ventriculomegaly, Microcephaly, Short stature, Hydrocephalus, Macrocephaly OMIM:303350
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Polycystic ovaries, Non-midline cleft lip, Abnormality of the philtrum... ORPHA:1770
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of the nose, Aplasia/Hypoplasia a... ORPHA:1794
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Patent ductus arteriosus, Renal hypoplasia, Lobulated tongue, Anal atresia, Cleft lip... OMIM:616300
Omphalocele
Omphalocele ORPHA:660
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Combined Oxidative Phosphorylation Deficiency 25
Long philtrum, Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Vascular dilatation, ... OMIM:616430
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Renal agenesis, Cleft upper lip, Tricuspid atresia, Atria... OMIM:264480
2q33.1 deletion syndrome
Inguinal hernia, High palate, Cleft palate DECIPHER:51
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Genitopalatocardiac Syndrome
Non-midline cleft lip, Wide nasal bridge, Micrognathia, Congenital diaphragmatic hernia, Multicys... ORPHA:2075
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida, Hypospadias ORPHA:3176
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Long philtrum, Micrognathia, Omphalocele, Ventricular septal defec... OMIM:617022
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Drooling, Open mouth, Enuresis, Malar flattening, Retrognathia, Short nose OMIM:613670
Suleiman-El-Hattab Syndrome
High palate, Patent foramen ovale, Long philtrum, Drooling, Atrial septal defect, Hydronephrosis,... OMIM:618950
Orofaciodigital Syndrome Xv
Hydronephrosis, Anteverted nares, Wide nasal bridge, Lobulated tongue OMIM:617127
Catel-Manzke Syndrome
Atrial septal defect, Micrognathia, Malar flattening, Glossoptosis, Ventricular septal defect, Ca... ORPHA:1388
Trisomy 17P
Hydronephrosis, Micrognathia, Polycystic kidney dysplasia, Macroglossia, Hypoplastic left heart, ... ORPHA:261290
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Abnormality of the dentition, Micropenis, Cleft soft palate, Micrognathia, Depress... OMIM:616331
Opitz Gbbb Syndrome
High palate, Cleft upper lip, Wide nasal bridge, Anal atresia, Abnormal heart morphology, Abnorma... OMIM:300000
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Carpenter Syndrome 1
Hydroureter, Tetralogy of Fallot, High palate, Agenesis of permanent teeth, Patent ductus arterio... OMIM:201000
X-Linked Intellectual Disability, Schimke Type
High palate, Hydronephrosis, Ankle flexion contracture, Knee flexion contracture, Narrow nasal br... ORPHA:85285
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Hyperphosphatasia With Mental Retardation Syndrome 1
Broad nasal tip, Short philtrum, Cleft upper lip, Abnormally large globe, Wide nasal bridge, Tent... OMIM:239300
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Flexion contracture, Diastasis recti, Hydronephrosis, Open mouth, Exaggerated cupid's bow, Macrog... ORPHA:254528
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cleft palate, Cleft ala nasi OMIM:164180
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Depressed nasal ridge, Underdeveloped nasal alae, Intestinal malrotation, Deep philtrum, Wide nas... ORPHA:77300
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Underdeveloped nasal alae, Renal hypoplasia/aplasia, Micrognathia, High, narrow p... ORPHA:2516
Donnai-Barrow Syndrome
Broad nasal tip, Hypoplasia of the iris, Proteinuria, Intestinal malrotation, Congenital diaphrag... OMIM:222448
3C Syndrome
Abnormal mitral valve morphology, Hydronephrosis, Micrognathia, High, narrow palate, Inguinal her... ORPHA:7
Developmental And Epileptic Encephalopathy 36
Microcephaly, Hydrocephalus OMIM:300884
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Joint contracture of the hand, Wide nasal bridge, Thick upper lip verm... OMIM:247200
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Saccharopinuria
Saccharopinuria, Hyperlysinuria, Citrullinuria, Short stature, Histidinuria OMIM:268700
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Cleft upper lip, Bulbous nose, Wide nasal bridge, Dysplastic pulmonary valve, Anteve... OMIM:300958
Recombinant 8 Syndrome
Tetralogy of Fallot, Cleft upper lip, Camptodactyly of finger, Patent ductus arteriosus, Abnormal... ORPHA:96167
Opitz Gbbb Syndrome
Long philtrum, Hydronephrosis, Micrognathia, Inguinal hernia, Ventricular septal defect, Cleft pa... ORPHA:2745
Intellectual Developmental Disorder, Autosomal Recessive 13
Short philtrum, Cleft upper lip, Wide nasal bridge, Smooth philtrum, Downturned corners of mouth OMIM:613192
Focal Dermal Hypoplasia
Open bite, Diastasis recti, Hernia, Hydronephrosis, Multicystic kidney dysplasia, Inguinal hernia... ORPHA:2092
Vacterl/Vater Association
Renal agenesis, Ectopic kidney, Non-midline cleft lip, Hydronephrosis, Tracheoesophageal fistula,... ORPHA:887
Non-Syndromic Posterior Hypospadias
Ventral shortening of foreskin, Urethral diverticulum, Micropenis, Anal atresia, Esophageal atres... ORPHA:95706
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Pseudodiastrophic Dysplasia
Omphalocele, Malar flattening ORPHA:85174
Orofaciodigital Syndrome Vi
Renal agenesis, Broad nasal tip, Accessory oral frenulum, High palate, Cleft upper lip, Tongue no... OMIM:277170
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Micrognathia, Oral synechia, Cleft palate ORPHA:2016
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Inguinal hernia, Hydronephrosis, Aganglionic megacolon, Anal atresia OMIM:235760
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Abnormality of the kidney, Micrognathia, Depressed nasal bridge, Ventricular septal defect, Abnor... OMIM:616901
Oculoauriculofrontonasal Syndrome
Narrow mouth, Underdeveloped nasal alae, Pericallosal lipoma, Micrognathia, Cleft lip, Ventricula... ORPHA:398156
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Broad nasal tip, Long philtrum, Open mouth, Prominence of the premaxilla, Eve... OMIM:137550
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
Acalvaria
Omphalocele, Cleft palate ORPHA:945
Specc1L-Related Hypertelorism Syndrome
Tetralogy of Fallot, Ectopic kidney, Umbilical hernia, Long philtrum, Patent ductus arteriosus, A... ORPHA:1519
Double Outlet Right Ventricle
Narrow mouth, Tetralogy of Fallot, Intestinal malrotation, Double outlet right ventricle, Pulmoni... ORPHA:3426
Distal Trisomy 6P
Narrow mouth, Hernia, Hydronephrosis, Renal hypoplasia, Aplasia/Hypoplasia affecting the eye, Mic... ORPHA:1745
Mental Retardation, X-Linked 91
Macrodontia, High palate, Short nose OMIM:300577
Aarskog-Scott Syndrome
Cleft upper lip, Delayed eruption of teeth, Long philtrum, Camptodactyly of finger, Everted lower... ORPHA:915
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Thin vermilion border, Long philtrum, Patent ductus arteriosus, Micropenis, Renal... ORPHA:171839
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Oculoauriculovertebral Spectrum With Radial Defects
Ectopic anus, Non-midline cleft lip, Atrioventricular canal defect, Aplasia/Hypoplasia affecting ... ORPHA:2549
Congenital Disorder Of Glycosylation, Type Iig
Pierre-Robin sequence, High palate, Left ventricular hypertrophy, Hydronephrosis, Wide nasal brid... OMIM:611209
Chromosome 22Q11.2 Deletion Syndrome, Distal
Underdeveloped nasal alae, Malar flattening, Smooth philtrum, Truncus arteriosus, Thin upper lip ... OMIM:611867
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Depressed nasal ridge, Camptodactyly, Cleft palate, Joint contracture of the hand OMIM:601016
Maxillonasal Dysplasia, Binder Type
Short columella, Depressed nasal bridge, Short nose, Dental malocclusion OMIM:155050
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Axial Mesodermal Dysplasia Spectrum
Renal cyst, Abnormality of the ureter, Hydronephrosis, Tracheoesophageal fistula, Micrognathia, A... ORPHA:1834
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Cleft upper lip, Intestinal malrotation, Abnormality of the tongue, Malar flattening, Bilateral c... OMIM:601165
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Mosaic Trisomy 14
High palate, Ectopic anus, Aplasia/Hypoplasia affecting the eye, Hypoplasia of penis, Wide nasal ... ORPHA:1703
Blepharonasofacial Malformation Syndrome
Long philtrum, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, Tooth agenesi... ORPHA:1252
Holoprosencephaly-Postaxial Polydactyly Syndrome
Narrow mouth, Absent nares, Hypoplasia of the premaxilla, Intestinal malrotation, Hypoplasia of p... ORPHA:2166
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Cleft upper lip, Micrognathia, Cleft p... OMIM:601076
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Patent foramen ovale, Long philtrum, Atrial septal defect, Double outlet right ... ORPHA:477817
Trigonocephaly 1
Omphalocele, Long penis, Meckel diverticulum OMIM:190440
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Otopalatodigital Syndrome Type 2
Narrow mouth, Pierre-Robin sequence, Myelomeningocele, Abnormal heart valve morphology, Hypoplast... ORPHA:90652
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... ORPHA:2838
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Microcephaly, Homocystinuria, Stroke OMIM:236250
Microphthalmia, Syndromic 11
Microphthalmia, Cleft upper lip, Cleft palate OMIM:614402
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Abnormal localization of kidney, Depressed nasal bridge, Ventricular septal defect,... ORPHA:83473
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip ORPHA:1995
Cerebrooculonasal Syndrome
High palate, Narrow palate, Anophthalmia, Solitary median maxillary central incisor, U-Shaped upp... OMIM:605627
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Abnormality of the kidney, Renal dysplasia, Renal insufficiency OMIM:615993
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Renal hypoplasia, Anal atresia, Omphalocele, Urethral obstruction, Renal dysplasia, ... OMIM:601389
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Anosmia, Cleft upper lip, Micropenis, Cleft palate OMIM:244200
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Long philtrum, Elbow flexion contracture, Wide nasal bridge, Micrognathia, Knee flexion contractu... OMIM:616266
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hydronephrosis, Micrognathia, Hypoplastic left heart... OMIM:265380
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Short philtrum, Atrial septal defect, Thick lower lip vermilion, Micrognathia, Widely-spaced maxi... OMIM:608227
Myopathy, Congenital, Progressive, With Scoliosis
High palate, Depressed nasal ridge, Hydronephrosis, Micrognathia, Renal atrophy, Congenital contr... OMIM:618578
Distal Monosomy 10P
Ectopic anus, Polycystic ovaries, Non-midline cleft lip, Convex nasal ridge, Hypoplasia of penis,... ORPHA:1580
Trisomy 18
Narrow mouth, Non-midline cleft lip, Atrial septal defect, Hydronephrosis, Hernia, Abnormality of... ORPHA:3380
Alagille Syndrome 2
Long nose, Tetralogy of Fallot, Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Atria... OMIM:610205
Kennerknecht Syndrome
Renal agenesis, High palate, Malrotation of colon, Hypodontia, Convex nasal ridge, Omphalocele OMIM:600908
Kapur-Toriello Syndrome
Cleft upper lip, Bulbous nose, Patent ductus arteriosus, Atrial septal defect, Micropenis, Intest... OMIM:244300
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Unilateral renal agenesis, Long philtrum, Underdeveloped nasal alae, Diastasis recti, Hypodontia,... OMIM:618419
Dural Sinus Malformation
Stroke, Cerebellar hemorrhage, Subarachnoid hemorrhage, Myelopathy, Subdural hemorrhage, Hydrocep... ORPHA:97339
Neural Tube Defects, Susceptibility To
Myelomeningocele, Anencephaly, Hydrocephalus, Spina bifida occulta, Urinary incontinence OMIM:182940
Distal Monosomy 7Q36
Bulbous nose, Non-midline cleft lip, Hernia, Hypoplasia of penis, Micrognathia, Cleft palate, Wid... ORPHA:1636
Stimmler Syndrome
Microcephaly, Aminoaciduria, Short stature, Intrauterine growth retardation ORPHA:3199
Split hand/foot malformation 1 (SHFM1)
Median cleft lip, Abnormality of the urinary system, Cleft palate DECIPHER:46
Pai Syndrome
Bifid uvula, Midline central nervous system lipomas, Nasal polyposis, Depressed nasal bridge, Mid... ORPHA:1993
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Horseshoe kidney, Bulbous nose, Unilateral cleft palate, Unilateral cleft lip, Thick lower lip ve... OMIM:619103
Dibasic Amino Aciduria I
Ornithinuria, Dibasicaminoaciduria, Argininuria, Hyperlysinuria OMIM:222690
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Macrocephaly at birth, Ventriculomegaly, Hydrocephalus ORPHA:324416
Intellectual Disability, Buenos-Aires Type
High palate, Open bite, Hydronephrosis, Wide nasal bridge, Abnormality of dental morphology, Mand... ORPHA:3079
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short philtrum, Everted lower lip vermilion, Mandibular prognathia, Thin upper lip vermilion, Sho... ORPHA:2429
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Micrognathia, Arthrogryposis multiplex congenita, Cleft palate, Vesicoureteral re... OMIM:618265
Pierpont Syndrome
Broad nasal tip, Micropenis, Everted lower lip vermilion, Widely spaced teeth, Long upper lip, Pr... OMIM:602342
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Ventricular septal defect, Cleft palate OMIM:214300
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Aplasia/Hypoplasia involving the nose, Choanal atresia, Microphthalmia, Abnormality ... ORPHA:1135
Orofaciodigital Syndrome Viii
Broad nasal tip, High palate, Bifid nasal tip, Cleft palate, Median cleft lip OMIM:300484
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft upper lip, Atrial septal defect, Tented upper lip vermilion, Coarctation of aorta, Ventricu... OMIM:600987
Non-Distal Trisomy 13Q
High palate, Long philtrum, Hernia, Everted lower lip vermilion, Aplasia/Hypoplasia affecting the... ORPHA:1702
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Fatty Acyl-Coa Reductase 1 Deficiency
Long philtrum, Depressed nasal bridge, Smooth philtrum, Thin upper lip vermilion, Short nose ORPHA:438178
Whistling Face Syndrome, Recessive Form
Narrow mouth, High palate, Long philtrum, Trismus, Underdeveloped nasal alae, Elbow flexion contr... OMIM:277720
Branchio-Oculo-Facial Syndrome
Renal agenesis, Broad nasal tip, High palate, Atypical scarring of skin, Upper lip pit, Non-midli... ORPHA:1297
6P22 Microdeletion Syndrome
Hydronephrosis, Abnormal palate morphology, Patent ductus arteriosus, Hernia ORPHA:251046
Omphalocele, X-Linked
Omphalocele OMIM:310980
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
Brain Malformations With Or Without Urinary Tract Defects
Narrow mouth, Hydronephrosis, Renal hypoplasia, Inguinal hernia, Thin upper lip vermilion, Anteve... OMIM:613735
Rosselli-Gulienetti Syndrome
Cleft upper lip, Hypodontia, Microdontia, Abnormality of the philtrum, Anodontia, Cleft palate OMIM:225000
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Midline central nervous system lipomas, Nasal polyposis, Median cleft lip OMIM:155145
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Solitary median maxillary central incisor, Patent foramen ovale, Patent du... OMIM:301043
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot, Aplasia of the nose, Microphthalmia, Abnormal localization... ORPHA:3186
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Nephropathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Delayed eruption of teeth, Macroglossia OMIM:614450
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Anal stenosis, Microphthalmia, Omphalocele, Anteriorly placed anus OMIM:248450
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm OMIM:618734
Internal Carotid Absence
Cerebral ischemia, Dilatation of the cerebral artery, Subarachnoid hemorrhage ORPHA:981
Basel-Vanagaite-Smirin-Yosef Syndrome
Short philtrum, Hydronephrosis, Everted lower lip vermilion, Tented upper lip vermilion, Cleft pa... OMIM:616449
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis, Cleft palate, Micrognathia OMIM:181180
Fanconi Anemia, Complementation Group O
Renal cyst, Hydronephrosis, Anal atresia, Abnormal heart morphology, Stage 5 chronic kidney disea... OMIM:613390
Keratoconus Posticus Circumscriptus
Cleft upper lip, Recurrent urinary tract infections, Vesicoureteral reflux, Cleft palate OMIM:244600
Trisomy 8Q
High palate, Myelomeningocele, Camptodactyly of finger, Non-midline cleft lip, Everted lower lip ... ORPHA:1752
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Craniofacial osteosclerosis, Micrognathia, Multicystic kidney dysplasia, Ventricular... OMIM:300373
Catifa Syndrome
Delayed eruption of teeth, Long philtrum, Cleft lip, Inguinal hernia, Increased overbite, Camptod... OMIM:618761
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Scoli... OMIM:609813
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Nephronophthisis 16
Enlarged kidney, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, P... OMIM:615382
Bladder Exstrophy
Abnormality of the ureter, Intestinal malrotation, Bladder exstrophy, Hypoplasia of penis, Inguin... ORPHA:93930
Xk Aprosencephaly Syndrome
Narrow mouth, Atrial septal defect, Anal atresia, Microphthalmia, Ventricular septal defect, Abno... ORPHA:3469
Femoral-Facial Syndrome
Long philtrum, Long penis, Micrognathia, Polycystic kidney dysplasia, Abnormal localization of ki... ORPHA:1988
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Chromosome 18Q Deletion Syndrome
Bifid uvula, Inguinal hernia, Ventricular septal defect, Mandibular prognathia, Dysplastic pulmon... OMIM:601808
Developmental And Epileptic Encephalopathy 49
Microcephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus OMIM:617281
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Hydronephrosis, Micrognathia, Omphalocele, ... ORPHA:2484
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta,... OMIM:618164
Okamoto Syndrome
Exaggerated median tongue furrow, Underdeveloped nasal alae, Unilateral renal hypoplasia, Open bi... ORPHA:2729
Coffin-Siris Syndrome 10
Persistence of primary teeth, Anteverted nares, Ventricular septal defect, Wide mouth OMIM:618506
Kleefstra Syndrome
Hernia, Hydronephrosis, Everted lower lip vermilion, Tented upper lip vermilion, Exaggerated cupi... ORPHA:261494
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Ectopic anus, Malar flattening, Ventricular septal defect, Mandibular prognathia,... ORPHA:94066
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Thin vermilion border, Short nose, Abnormal cardiac septum morphology ORPHA:2370
Emanuel Syndrome
Unilateral renal agenesis, Bifid uvula, Long philtrum, Micrognathia, Inguinal hernia, Ventricular... ORPHA:96170
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus ORPHA:26
15Q14 Microdeletion Syndrome
Short philtrum, Long philtrum, Atrial septal defect, Convex nasal ridge, Inguinal hernia, Promine... ORPHA:261190
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Micropenis, Hydronephrosis, Alveolar ridge overgrowth, Pancreatic lymphangiectasis, ... OMIM:235255
Beaulieu-Boycott-Innes Syndrome
Renal agenesis, Long nose, Horseshoe kidney, Patent ductus arteriosus, Carious teeth, Recurrent u... OMIM:613680
Prune Belly Syndrome
Patent ductus arteriosus, Prune belly, Hydronephrosis, Anal atresia, Abnormal heart morphology, C... OMIM:100100
Zaki Syndrome
Renal agenesis, High palate, Short philtrum, Patent foramen ovale, Patent ductus arteriosus, Hydr... OMIM:619648
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Holoprosencephaly 7
Solitary median maxillary central incisor, Hypoplasia of the premaxilla, Omphalocele, Short nose,... OMIM:610828
Diabetes Insipidus, Neurohypophyseal
Wide nose, Long philtrum, Short nose OMIM:125700
Filippi Syndrome
Short philtrum, Thin vermilion border, Underdeveloped nasal alae, Hypodontia, Microdontia, Wide n... OMIM:272440
Lysine Malabsorption Syndrome
Growth delay, Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Caudal Duplication
Myelomeningocele, Ureteral duplication, Abnormal penis morphology, Intestinal duplication, Omphal... ORPHA:1756
Toluene Embryopathy
Hydronephrosis, Micrognathia, Abnormal localization of kidney, Smooth philtrum, Hypoplasia of the... ORPHA:1920
Opitz gbbb syndrome, type II
Bifid uvula, Diastasis recti, Micrognathia, Inguinal hernia, Ventricular septal defect, Thin uppe... OMIM:145410
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia, Cleft lip ORPHA:563609
8Q12 Microduplication Syndrome
Narrow mouth, Long philtrum, Atrial septal defect, Everted lower lip vermilion, Wide nasal bridge... ORPHA:228399
Brain Small Vessel Disease 2
Ventriculomegaly, Intracranial hemorrhage, Growth delay OMIM:614483
1Q21.1 Microduplication Syndrome
Macrocephaly, Hypospadias, Hydrocephalus ORPHA:250994
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Lambert Syndrome
Inguinal hernia, Malar flattening, Ventricular septal defect, Hypospadias, Wide mouth ORPHA:1296
Fryns Syndrome
Long philtrum, Joint contracture of the hand, Hydronephrosis, Tented upper lip vermilion, Ventric... OMIM:229850
Tetralogy Of Fallot
Tetralogy of Fallot, Thin vermilion border, Abnormal nasal morphology ORPHA:3303
Rapp-Hodgkin Syndrome
Narrow mouth, Bifid uvula, Cleft upper lip, Underdeveloped nasal alae, Velopharyngeal insufficien... OMIM:129400
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, Depressed nasal ridge, Optic nerve hypoplasia, High, narrow palate, Choanal atre... OMIM:607597
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Tetralogy of Fallot, Perineal hypospadias, Microphallus OMIM:615542
Trigonocephaly With Short Stature And Developmental Delay
Broad alveolar ridges, High palate, Convex nasal ridge, Wide nasal bridge, Inguinal hernia, Ventr... OMIM:314320
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Patent ductus arteriosus, Atrial septal defect, Micropenis, Aganglionic megacolon, ... OMIM:613870
Parietal Foramina 1
Cleft upper lip, Cleft palate OMIM:168500
Cat-Eye Syndrome
Hydronephrosis, Anal atresia, Microphthalmia, Abnormal localization of kidney, Renal hypoplasia/a... ORPHA:195
Trisomy 12P
Everted lower lip vermilion, Aplasia/Hypoplasia affecting the eye, Wide nasal bridge, Micrognathi... ORPHA:1699
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Non-midline cleft lip, Wide nasal bridge, Situs inversus totalis, Micrognath... ORPHA:1908
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Atrial septal defect, Malar flattening, Ventricular septal defect, Camptodactyly, S... OMIM:613458
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Long nose, Recurrent urinary tract infections, Retrognathia, Patent du... ORPHA:363444
Teebi-Shaltout Syndrome
Narrow mouth, Broad nasal tip, Ureteral stenosis, Horseshoe kidney, Underdeveloped nasal alae, Hy... OMIM:272950
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Long philtrum, Atrial septal defect, Ventricular hypertrophy, Short nose OMIM:300887
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft lip, Microphthalmia, Abnorma... OMIM:618571
Cardiac Diverticulum
Pulmonary artery hypoplasia, Tricuspid atresia, Diastasis recti, Dextrocardia, Mitral stenosis, V... ORPHA:1686
Potocki-Shaffer Syndrome
Short philtrum, Underdeveloped nasal alae, Micropenis, Wide nasal bridge, Downturned corners of m... OMIM:601224
Holoprosencephaly
Proteinuria, Ventricular septal defect, Intestinal atresia, Hypoplasia of the zygomatic bone, Med... ORPHA:2162
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Cleft upper lip, Patent ductus arteriosus, Conical tooth, Micropenis, Hypodontia, Widely spaced t... OMIM:106260
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Long philtrum, Short nose, Micrognathia ORPHA:2598
Chromosome 14Q11-Q22 Deletion Syndrome
Narrow mouth, High palate, Patent foramen ovale, Patent ductus arteriosus, Long philtrum, Microgn... OMIM:613457
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Broad nasal tip, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Intestinal malro... ORPHA:457193
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Long philtrum, Bulbous nose, Tented upper lip vermilion, Microphthalmia, Depressed n... OMIM:614105
Hartsfield Syndrome
Microphthalmia, Depressed nasal bridge, Cleft palate, Non-midline cleft lip ORPHA:2117
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Atrial septal defect, Hypoplasia of the maxilla, Ventricular septal defect,... OMIM:614261
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, V... OMIM:249670
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Hypodontia, Microdontia, Abnormality of the philtrum, Malar flattening, Anodonti... OMIM:225060
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Intrauterine growth retardation, Hydranencephaly, Ventriculomegaly, Microcephaly, Dandy-Walker ma... OMIM:225790
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:239510
Short Stature And Facioauriculothoracic Malformations
High palate, Cleft upper lip, Ventricular septal defect, Cleft palate OMIM:609654
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pierre-Robin sequence, High palate, Long philtrum, Thin upper lip vermilion, Everted lower lip ve... OMIM:617877
Koolen-De Vries Syndrome
Underdeveloped nasal alae, Hydronephrosis, Everted lower lip vermilion, Microdontia, High, narrow... ORPHA:96169
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Renal agenesis, High palate, Cystic renal dysplasia, Increased urine alpha-ketoglutarate concentr... OMIM:220500
Mckusick-Kaufman Syndrome
High palate, Tetralogy of Fallot, Ectopic anus, Glandular hypospadias, Patent ductus arteriosus, ... ORPHA:2473
Intellectual Developmental Disorder, Autosomal Recessive 73
Drooling, Patent ductus arteriosus, Widely spaced teeth, Thick upper lip vermilion, Impaired mast... OMIM:619717
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Ureteral stenosis, Nephrocalcinosis, Renal cyst, Long philtrum, Patent ductus arteri... OMIM:615398
Acrorenal Syndrome
Renal hypoplasia/aplasia, Micrognathia, Renal insufficiency, Cleft palate, Abnormal renal morphology ORPHA:971
Alg9-Cdg
Ureteral hypoplasia, Bifid uvula, Long philtrum, Underdeveloped nasal alae, Hydronephrosis, Micro... ORPHA:79328
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Hydronephrosis, Rectal prolapse, Thyroid lymphangiectasia, Ventricul... OMIM:235510
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Hypoplasia of the max... ORPHA:1529
Emanuel Syndrome
Renal agenesis, High palate, Long philtrum, Patent ductus arteriosus, Atrial septal defect, Micro... OMIM:609029
Congenital Factor V Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Hematochezia, Spontaneous hematomas, G... ORPHA:326
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Wide nasal bridge, Broad secondary alveolar ridge, Inguinal hernia, Ventricular sept... ORPHA:3369
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Micropenis, Hydronephrosis, Unilateral cleft lip, Hypertrophic cardiomyopath... OMIM:616897
Acromelic Frontonasal Dysostosis
Broad nasal tip, Cleft upper lip, U-Shaped upper lip vermilion, Wide nasal bridge, Lipoma, Midlin... OMIM:603671
Achondrogenesis
Long philtrum, Micrognathia, Inguinal hernia, Umbilical hernia, Anteverted nares, Short nose ORPHA:932
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Depressed nasal bridge, Ventricular septal defect, Long philtrum OMIM:617895
Hydrocephalus With Associated Malformations
Omphalocele, Intestinal malrotation, Micrognathia OMIM:236640
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Bulbous nose, Atrial septal defect, Wide nasal bridge, Micrognathia, Malar flatteni... ORPHA:93946
Cutis Laxa, Autosomal Recessive, Type Ic
Bladder diverticulum, Patent foramen ovale, Long philtrum, Hydronephrosis, Wide nasal bridge, Mic... OMIM:613177
Holoprosencephaly 9
Single naris, Short philtrum, Dental malocclusion, Anophthalmia, Cleft upper lip, Solitary median... OMIM:610829
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Cleft palate, Arthrogryposis multiplex congenita, Non-midline cleft lip ORPHA:1484
Lowry-Maclean Syndrome
Abnormal heart morphology, Convex nasal ridge, Delayed eruption of teeth, Cleft palate OMIM:600252
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Wide nasal bridge, Micrognathia, Cleft palate, Short nose OMIM:614078
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Convex nasal ridge, Coarctation of aorta, Choanal atresia, Micro... ORPHA:2409
Mullegama-Klein-Martinez Syndrome
Short philtrum, Long philtrum, Bulbous nose, Wide nasal bridge, Coarctation of aorta, Micrognathi... OMIM:301022
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Patent ductus arteriosus, Tracheoesophageal fistula, Hypoplasia of penis, Esophagea... ORPHA:77298
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Diffuse mesangial sclerosis, High palate, Nephrotic syndrome, IgA deposit... OMIM:618348
Simpson-Golabi-Behmel Syndrome
Hydronephrosis, High, narrow palate, Macroglossia, Multicystic kidney dysplasia, Inguinal hernia,... ORPHA:373
Neurocutaneous Melanocytosis
Ventriculomegaly, Dandy-Walker malformation, Meningocele, Renal hypoplasia/aplasia, Intracranial ... ORPHA:2481
Kleeblattschaedel
Hydrocephalus OMIM:148800
Congenital Heart Defects And Skeletal Malformations Syndrome
Long nose, High palate, Atrial septal defect, Intestinal malrotation, Narrow nose, Carious teeth,... OMIM:617602
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Long philtrum, Hydronephrosis, Micrognathia, Inguinal hernia, Ventricular septal defect, Hypoplas... OMIM:218649
Proboscis Lateralis
Single naris, Unilateral renal agenesis, High palate, Anophthalmia, Long philtrum, Patent ductus ... ORPHA:141099
Juberg-Hayward Syndrome
Anteriorly placed anus, Cleft upper lip, Horseshoe kidney OMIM:216100
Holoprosencephaly 5
Semilobar holoprosencephaly, Lobar holoprosencephaly, Microcephaly, Syntelencephaly, Hydrocephalu... OMIM:609637
Thakker-Donnai Syndrome
Narrow mouth, Tetralogy of Fallot, Rectovaginal fistula, Bulbous nose, Hydronephrosis, Tracheoeso... ORPHA:1780
Prune Belly Syndrome
Tetralogy of Fallot, Abnormality of the ureter, Patent ductus arteriosus, Aplasia of the abdomina... ORPHA:2970
Meckel Syndrome, Type 5
Microphthalmia, Cleft upper lip, Abnormality of the urinary system, Cleft palate OMIM:611561
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Wide nasal bridge OMIM:614870
Acrofacial Dysostosis, Palagonia Type
Oligodontia, Unilateral cleft lip, Malar flattening, Cleft upper lip OMIM:601829
3Mc Syndrome 1
Cleft upper lip, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Omphalocele, Den... OMIM:257920
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Renal agenesis, Micropenis, Hydronephrosis, U-Shaped upper lip vermilion, Thick lower lip vermili... OMIM:301040
Mesomelia-Synostoses Syndrome
Narrow mouth, Long philtrum, Bulbous nose, Hydronephrosis, Convex nasal ridge, Aplasia/Hypoplasia... ORPHA:2496
Tarp Syndrome
Tongue nodules, High palate, Tetralogy of Fallot, Horseshoe kidney, Hydronephrosis, Wide nasal br... OMIM:311900
Ohdo Syndrome
Narrow mouth, Thin vermilion border, Long philtrum, Proteinuria, Widely spaced teeth, Wide nasal ... OMIM:249620
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Wide nasal bridge, Inguinal... OMIM:601450
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Accessory oral frenulum, High palate, Renal cyst, Stage 5 chronic kidney disease, Bifid uvula, Wi... OMIM:266920
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Lower lip pit, Hypodontia, Lip pit, Cleft pa... ORPHA:888
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria ORPHA:42062
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Even-Plus Syndrome
High palate, Patent foramen ovale, Depressed nasal ridge, Atrial septal defect, Renal hypoplasia,... OMIM:616854
Clark-Baraitser Syndrome
High palate, Long philtrum, Depressed nasal bridge, Downturned corners of mouth, Short nose, Wide... OMIM:617752
Chung-Jansen Syndrome
High palate, Short philtrum, Thin vermilion border, Long philtrum, Micrognathia, Anteverted nares... OMIM:617991
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Patent foramen ovale, Bulbous nose, Arthrogryposis-like hand anomaly, Open mouth, Wi... ORPHA:369891
Facial Paresis, Hereditary Congenital, 3
Micrognathia, Depressed nasal bridge, Smooth philtrum, Anteverted nares, Downturned corners of mo... OMIM:614744
Constricting Bands, Congenital
Gastroschisis, Cleft upper lip, Ectopia cordis, Bladder exstrophy, Omphalocele, Cleft palate OMIM:217100
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal palate morphology, Thin vermilion border, Carious teeth, Hypertrophic cardiomyopathy, Th... ORPHA:2701
Joubert Syndrome 14
Short philtrum, Renal cyst, Open mouth, Tented upper lip vermilion, Microphthalmia, Malar flatten... OMIM:614424
Holoprosencephaly 3
Single naris, Bifid uvula, Solitary median maxillary central incisor, Hydronephrosis, Abnormality... OMIM:142945
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Meckel Syndrome, Type 4
Renal cyst, Atrial septal defect, Microphthalmia, Ventricular septal defect, Meningocele, Cleft p... OMIM:611134
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hernia, Microphthalmia, Depressed nasal bridge, Nephroblastoma, Ventricular septal defect, Smooth... OMIM:602501
Mcdonough Syndrome
Short philtrum, Diastasis recti, Atrial septal defect, Pulmonic stenosis, Micrognathia, Furrowed ... OMIM:248950
Acrocephalopolydactyly
Short nose, Abnormality of the mouth, Depressed nasal ridge, Abnormal renal morphology ORPHA:221054
16P13.11 Microdeletion Syndrome
Cleft upper lip, Camptodactyly of finger, Atrial septal defect, Exaggerated cupid's bow, Depresse... ORPHA:261236
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Hydronephrosis, Renal dysplasia, Ventricular septal defect, C... OMIM:146510
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, High palate, Patent ductus arteriosus, Atrial septal defect, Micropeni... OMIM:618142
Lambert Syndrome
Inguinal hernia, Malar flattening, Hypospadias, Wide mouth OMIM:245550
Lymphedema-Distichiasis Syndrome
Cellulitis, Tetralogy of Fallot, Cleft upper lip, Patent ductus arteriosus, Ventricular septal de... OMIM:153400
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Narrow mouth, High palate, Long philtrum, Patent foramen ovale, Inguinal hernia, Dental crowding,... OMIM:615539
Craniotelencephalic Dysplasia
Hydrocephalus, Microcephaly, Frontal encephalocele, Arrhinencephaly ORPHA:1528
8P23.1 Microdeletion Syndrome
High palate, Tetralogy of Fallot, Patent ductus arteriosus, Atrioventricular canal defect, Hypert... ORPHA:251071
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Intestinal malrotation, Anteverted nares, Congenital diaphragmatic hernia OMIM:601163
Acrocallosal Syndrome
Long philtrum, Inguinal hernia, Cleft palate, Short nose, Triangular mouth, High palate, Rectovag... OMIM:200990
Bartsocas-Papas Syndrome
Narrow mouth, Underdeveloped nasal alae, Micrognathia, Renal hypoplasia/aplasia, Median cleft lip... ORPHA:1234
Split-Hand/Foot Malformation 3
Narrow mouth, High palate, Renal hypoplasia, Hypoplasia of the maxilla, Microretrognathia, Campto... OMIM:246560
Nager Syndrome
Unilateral renal agenesis, Abnormal palate morphology, Non-midline cleft lip, Micrognathia, Hypop... ORPHA:245
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Abnormal palate morphology, Aplasia/Hypoplasia of the lens, Hypoplasia of pe... ORPHA:1381
Threoninemia
Hyperthreoninuria, Growth delay OMIM:273770
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Hydronephrosis, Micrognathia, Ventricular septal defect, Arthrogryposis m... OMIM:607598
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
High palate, Ureteral hypoplasia, Thin vermilion border, Long philtrum, Patent ductus arteriosus,... OMIM:614080
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Anosmia, Cleft upper lip, Micropenis, Tooth agenesis, Choanal atresia, Hyposmia, Cleft palate OMIM:147950
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Broad nasal tip, High palate, Micropenis, Hydronephrosis, Abnormally large globe, Alveolar ridge ..