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Gene: Gldc MGI:1341155

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Gene Summary

Name:
glycine decarboxylase
Synonyms:
D030049L12Rik,  D19Wsu57e,  b2b2679Clo

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Gldctm1a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal vertebral arch morphology Gldctm1a(EUCOMM)Wtsi HET   Early adult 2.29×10-05

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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 Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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Legacy Phenotype Associated Images
Gldctm1a(EUCOMM)Wtsi
HET, Female, WTSI
Gldctm1a(EUCOMM)Wtsi
HET, Female, WTSI
Gldctm1a(EUCOMM)Wtsi
HET, Female, WTSI
Gldctm1a(EUCOMM)Wtsi
HET, Female, WTSI
Gldctm1a(EUCOMM)Wtsi
HET, Female, WTSI

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 1
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
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Cleft upper lip, Micrognathia, Cleft palate, Renal cyst, ... OMIM:231060
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia,... OMIM:615524
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... ORPHA:401942
Fetal Valproate Spectrum Disorder
Omphalocele, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mo... ORPHA:1906
Holzgreve Syndrome
Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hypoplastic left heart OMIM:236110
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Pericardial effusion, Depressed nasal ridge, Cleft palate, Polycys... OMIM:613885
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Hypoplasti... ORPHA:3316
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Orofacial cleft, Microphthalmia ORPHA:3434
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Burn-Mckeown Syndrome
Mandibular prognathia, Inguinal hernia, Ventricular septal defect, Prominent nasal bridge, Choana... OMIM:608572
Anencephaly 2
Anophthalmia, Median cleft lip, Cleft maxillary alveolar ridge, Bifid nose, Median cleft palate OMIM:619452
Megalencephaly, Autosomal Dominant
Hydrocephalus, Macrocephaly OMIM:155350
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Cleft ala nasi, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, Convex nasal... ORPHA:2007
Phenobarbital Embryopathy
Mandibular prognathia, Hypospadias, Abnormal nasal base norphology, Unilateral cleft lip, Abnorma... ORPHA:1919
Ring Chromosome 8 Syndrome
Anteverted nares, Abnormality of the ureter, Short nose, Hydronephrosis, Abnormal palate morphology ORPHA:1450
Rhiny
Short nose, Thin vermilion border, Anteverted nares, Inguinal hernia OMIM:180360
8P23.1 Duplication Syndrome
Wide nose, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, T... ORPHA:251076
Miller-Dieker Syndrome
Omphalocele, Anteverted nares, Abnormal upper lip morphology, Nephropathy, Short nose ORPHA:531
Pierre Robin Syndrome
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis OMIM:261800
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Deep ph... ORPHA:261120
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose ORPHA:2015
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Ab... OMIM:179613
Fryns Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch m... ORPHA:2059
Intellectual Disability, Wolff Type
Microretrognathia, Inguinal hernia, Hypospadias, Camptodactyly of finger, Bulbous nose, Thick low... ORPHA:3080
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Fetal Encasement Syndrome
Omphalocele, Congenital diaphragmatic hernia, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihyd... OMIM:613630
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:615938
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Bifid uvula, Cleft palate OMIM:258320
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Prominent nose, Short philtrum, Atrial septal defect, Pulmonary artery at... OMIM:618316
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia, Cleft palate, Cleft upper lip OMIM:120433
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Trigonocephaly 1
Omphalocele, High, narrow palate, Long penis, Wide nasal bridge, Long philtrum, Short nose, Mecke... OMIM:190440
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Ventricular septal defect, Micrognathia, Wide nasal bridge, Downturned corners of mo... ORPHA:93267
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Renal hypoplasia/aplasi... ORPHA:1166
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:615937
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Trisomy 1Q
Microretrognathia, Omphalocele, Wide nose, Anophthalmia, Ventricular septal defect, Depressed nas... ORPHA:261344
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Broad nasal tip, Bifid nasal tip... OMIM:136760
Ritscher-Schinzel Syndrome 1
Depressed nasal bridge, Ventricular septal defect, Hypospadias, Micrognathia, Double outlet right... OMIM:220210
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
17Q21.31 Microduplication Syndrome
Anteverted nares, Abnormality of the dentition, Micrognathia, High palate, Short philtrum, Malar ... ORPHA:217340
Disorganization, Mouse, Homolog Of
Multiple lipomas, Sacral lipoma, Cleft palate, Cleft upper lip OMIM:223200
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft OMIM:611638
Trisomy 13
Median cleft lip, Ventricular septal defect, Anophthalmia, Displacement of the urethral meatus, A... ORPHA:3378
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Abnormality of the urinary system, High palate, Everted low... ORPHA:1695
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Hypospadias, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morpholo... ORPHA:1355
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Abnormal cardiac septum mo... ORPHA:1200
Chromosome 9P Deletion Syndrome
Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Micropenis, ... OMIM:158170
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Cleft palate, Abnormal heart morphology, Atypical scarring of skin, Abnormal card... ORPHA:294975
Facial Clefting, Oblique, 1
Microphthalmia, Cleft palate, Cleft upper lip OMIM:600251
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Macrocephaly, Hydrocephalus, Ventriculomegaly, Microcephaly OMIM:618709
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper lip OMIM:601357
Microphthalmia, Syndromic 9
Anophthalmia, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Pulmonary arte... OMIM:601186
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Optic disc hypoplasia, Hydronephrosis DECIPHER:70
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Ectopic anus, Hypoplastic left he... ORPHA:2476
Verheij Syndrome
Thin upper lip vermilion, Anteverted nares, Ventricular septal defect, Optic nerve hypoplasia, Br... OMIM:615583
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Truncus arteriosus, Prominent nasal bridge, Ventricular septal defect, ... ORPHA:401935
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Cleft ... OMIM:313850
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system, Bifid uvula ORPHA:2669
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Depressed nas... OMIM:601927
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:611808
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Orofacial cleft, Broad nasal tip ORPHA:85287
Sonoda Syndrome
Ventricular septal defect, Depressed nasal bridge, Narrow mouth OMIM:270460
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Bicuspid aortic valve, Anteverted nares, Cleft soft palate, Broad na... OMIM:618529
Teebi Hypertelorism Syndrome 1
Omphalocele, Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Ven... OMIM:145420
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Micrognathia, Patent ductus ... OMIM:612561
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Broad nasal tip, Micrognathia, Ectopic kidney, Cleft palate, Abnormal heart morp... OMIM:239800
Tetraploidy
Micrognathia, Renal hypoplasia/aplasia, Cleft palate, Hydronephrosis, Short philtrum, Aplasia/Hyp... ORPHA:3305
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Micrognathia, Renal cyst, Short philtrum, Microphallus, Vesicour... OMIM:618454
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... OMIM:601349
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Prominent nasal bridge, Abnormality of the dentition, Carious teeth... ORPHA:3270
Schisis Association
Omphalocele, Renal agenesis, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Cleft pa... ORPHA:63862
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Micrognathia, Underdeveloped nasal alae, Flexion co... OMIM:263210
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Aplasia/... ORPHA:1926
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Macrocephaly ORPHA:99966
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth... ORPHA:1832
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... OMIM:618845
Pentalogy Of Cantrell
Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Renal agene... ORPHA:1335
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Intestinal malrotation, Proteinur... ORPHA:2143
22Q11.2 Duplication Syndrome
Wide nose, Ventricular septal defect, Micrognathia, Urethral stenosis, Depressed nasal ridge, Cle... ORPHA:1727
Nemaline Myopathy 9
Ventricular septal defect, Micrognathia, Cleft palate, High palate, Arthrogryposis multiplex cong... OMIM:615731
Triploidy
Omphalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Micrognathia, Non-midline ... ORPHA:3376
Distal Duplication 15Q
Omphalocele, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Downturned corners of... ORPHA:1707
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Abnormal spaced incisors, Anteverted nares, Prominent nasal bridge, Broad nasal tip... ORPHA:411986
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Anophthalmia Plus Syndrome
Anophthalmia, Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bi... ORPHA:1104
Diprosopus
Non-midline cleft lip, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the nose ORPHA:1681
Perlman Syndrome
Hypoplasia of penis, Inguinal hernia, Anteverted nares, Nephroblastoma, Femoral hernia, Micrognat... ORPHA:2849
Orofaciodigital Syndrome Xvii
Median cleft lip, Prominent nose, High, narrow palate, Retrognathia, Renal hypoplasia, Micropenis... OMIM:617926
Maternal Phenylketonuria
Anteverted nares, Ventricular septal defect, Micrognathia, Esophageal atresia, Abnormal renal mor... ORPHA:2209
Spondylosis, Cervical
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis OMIM:184300
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect, Depressed nasal bridge, Micrognathia ORPHA:1918
Mosaic Trisomy 1
Microretrognathia, Omphalocele, Ventricular septal defect, Depressed nasal bridge, Congenital dia... ORPHA:1692
Fetal Alcohol Syndrome
Thin upper lip vermilion, Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Non-mi... ORPHA:1915
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation, Macrocephaly OMIM:607091
Non-Syndromic Metopic Craniosynostosis
Omphalocele, Wide nasal bridge ORPHA:3366
Charlie M Syndrome
Micrognathia, Non-midline cleft lip, Wide nasal bridge, Tooth agenesis, Thin vermilion border, Sh... ORPHA:1406
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Cleft upper li... OMIM:147250
Orofaciodigital Syndrome Type 5
Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac... ORPHA:2919
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Rhizomelia OMIM:166990
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... ORPHA:2547
Cerebrooculonasal Syndrome
Hypoplasia of penis, Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary ce... ORPHA:66625
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Depressed nasal bridge, Anteverted nares... OMIM:608149
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Vesic... OMIM:616894
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:172880
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Autosomal Recessive Amelia
Hypoplasia of penis, Micrognathia, Non-midline cleft lip, Orofacial cleft, Abnormal cardiac septu... ORPHA:1027
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida, Macrocephaly ORPHA:1931
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... ORPHA:1909
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Ventricular septal defect, Unilateral renal agenesis, High, narrow pala... OMIM:618494
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Micrognathia, Patent ductus arteriosus, Wide nasal br... ORPHA:3304
Weyers Ulnar Ray/Oligodactyly Syndrome
Micrognathia, Cleft upper lip, Cleft palate, High palate, Solitary median maxillary central incis... OMIM:602418
Fetal Trimethadione Syndrome
Depressed nasal bridge, Ventricular septal defect, Hypospadias, Micrognathia, High palate, Transp... ORPHA:1913
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Bicuspid aortic valve, Anteverted nares, Cleft upper lip, Patent ductus... OMIM:243310
Meckel Syndrome, Type 2
Omphalocele, Intestinal malrotation, Renal cyst, Cleft palate, Microphthalmia OMIM:603194
Trisomy 17P
Hypoplasia of penis, Prominent nose, Micrognathia, Flexion contracture, Orofacial cleft, High pal... ORPHA:261290
Opitz Gbbb Syndrome
Thin upper lip vermilion, Abnormal nasopharynx morphology, Inguinal hernia, Ventricular septal de... OMIM:300000
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Inguinal hernia, Anteverted nares, Patent ductus arteriosus, Depres... ORPHA:2412
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum ORPHA:46
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Open bite, Hypoplasia of the maxilla, Depressed na... ORPHA:1248
Hydrolethalus
Anophthalmia, Micrognathia, Submucous cleft hard palate, Cleft palate, Gingival cleft, Abnormalit... ORPHA:2189
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Abnormality of the philtrum, Renal hypoplasia/aplasia, Non-midline cle... ORPHA:1770
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Prominent nasal bridge, Cleft palate ORPHA:85273
Microphthalmia With Limb Anomalies
Anophthalmia, Depressed nasal bridge, Cleft upper lip, Deep philtrum, Flared nostrils, Cleft pala... OMIM:206920
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Prune belly, Hydroureter, Hydronephrosis, Pulmonic stenosis OMIM:264140
Orofacial Cleft 14
Median cleft lip OMIM:615892
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Intestinal malrotation, Underdeveloped nasal alae, Micrognathia, Deep philtrum, Depressed nasal r... ORPHA:77300
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Zechi-Ceide Syndrome
Wide nose, Cleft upper lip, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Oligodont... OMIM:612916
17P13.3 Microduplication Syndrome
Wide nose, Hypoplasia of penis, Inguinal hernia, High palate, Narrow mouth, Short nose ORPHA:217385
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
2q33.1 deletion syndrome
Inguinal hernia, High palate, Cleft palate DECIPHER:51
C Syndrome
Omphalocele, Ventricular septal defect, Anteverted nares, Accessory oral frenulum, Micrognathia, ... OMIM:211750
Oculomaxillofacial Dysostosis
Median cleft lip, Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of the nose, Ab... ORPHA:1794
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Anteverted nares, Exaggerated cupid's bow, Wide mouth, Delayed eruptio... OMIM:618506
Megabladder, Congenital
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... OMIM:618719
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Macroglossia, Umbilical hernia, Depressed nasal bridge OMIM:275100
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Ventral shortening of foreskin,... ORPHA:95706
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia, Cleft ala nasi, Cleft palate OMIM:164180
Joubert Syndrome 18
Ventricular septal defect, Renal cyst, Cleft palate, Horseshoe kidney, Lobulated tongue, Camptoda... OMIM:614815
Hadziselimovic Syndrome
Ventricular hypertrophy, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Thi... OMIM:612946
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Inguinal hernia, Submucous cleft hard palate, Anosmia, Single ... ORPHA:2250
Suleiman-El-Hattab Syndrome
Microretrognathia, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Thick lo... OMIM:618950
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Anteverted nares,... OMIM:619980
Omphalocele
Omphalocele ORPHA:660
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cerebellar hemorrhage, S... ORPHA:97339
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... OMIM:239300
Masa Syndrome
Short stature, Microcephaly, Hydrocephalus, Macrocephaly, Ventriculomegaly OMIM:303350
Pseudotrisomy 13 Syndrome
Omphalocele, Ventricular septal defect, Dextrocardia, Renal agenesis, Cleft upper lip, Complete a... OMIM:264480
Cat Eye Syndrome
Micrognathia, Vesicoureteral reflux, Atrial septal defect, Patent ductus arteriosus, Total anomal... OMIM:115470
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Carpenter Syndrome 1
Omphalocele, Hydroureter, Depressed nasal bridge, Ventricular septal defect, Persistence of prima... OMIM:201000
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Micrognathia, Minimal change... OMIM:616730
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Non-mid... ORPHA:2075
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... OMIM:137550
Tetraamelia Syndrome 2
Microretrognathia, Ventricular septal defect, Bilateral cleft lip, Micrognathia, Hypoplastic pulm... OMIM:618021
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Underdeveloped nasal alae, Cleft palate, Tr... OMIM:601355
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect, Vesicoureteral ... ORPHA:2745
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Inguinal hernia, Prominent nasal bridge, Broad nasal tip, Micrognathia,... OMIM:613544
Saccharopinuria
Citrullinuria, Short stature, Histidinuria, Saccharopinuria, Hyperlysinuria OMIM:268700
Bardet-Biedl Syndrome 19
Atrial septal defect, Renal insufficiency, Ventricular septal defect, Partial atrioventricular ca... OMIM:615996
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Hypospadias, Broad n... OMIM:619736
Orofaciodigital Syndrome Xv
Anteverted nares, Wide nasal bridge, Midline notch of upper alveolar ridge, Lobulated tongue, Hyd... OMIM:617127
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Hypoplasia of the premaxil... ORPHA:2166
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Inguinal hernia, Flexion contracture of finger, Depressed nasal bridge, Anteverted n... ORPHA:254528
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose, Long philtrum OMIM:125700
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Dysplastic pulm... OMIM:300958
X-Linked Intellectual Disability, Schimke Type
Narrow nasal bridge, Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee ... ORPHA:85285
Recombinant 8 Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Cleft upper lip, Abnormality... ORPHA:96167
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip ORPHA:1995
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Micrognathia, Cleft palate, Glossoptosis, Atr... ORPHA:1388
3C Syndrome
Hypoplasia of penis, Micrognathia, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve... ORPHA:7
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Intestinal malrotation, Broad nas... OMIM:222448
Oculoauriculovertebral Spectrum With Radial Defects
Distal urethral duplication, Renal hypoplasia/aplasia, Non-midline cleft lip, Cleft palate, Orofa... ORPHA:2549
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Anteverted nar... OMIM:247200
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Hypoplasia of the iris, Hernia, Multicystic kidney dysplasia, Ab... ORPHA:2092
Pseudodiastrophic Dysplasia
Omphalocele, Malar flattening ORPHA:85174
Meckel Syndrome, Type 5
Microphthalmia, Renal cyst, Cleft palate, Cleft upper lip OMIM:611561
Vacterl/Vater Association
Omphalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Cong... ORPHA:887
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruction, Prune be... OMIM:601389
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Micrognathia, Cleft upper lip, Ectopic kidney, Cleft p... OMIM:601076
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Anteverted nares, Hypospadias, Micrognathia, Renal agenesis, Patent ductu... ORPHA:171839
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Depressed nasal ... OMIM:612530
Blepharonasofacial Malformation Syndrome
Wide nose, Inguinal hernia, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, ... ORPHA:1252
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Aarskog-Scott Syndrome
Delayed eruption of teeth, Inguinal hernia, Anteverted nares, Camptodactyly of finger, Cleft uppe... ORPHA:915
1Q21.1 Microduplication Syndrome
Hydrocephalus, Tetralogy of Fallot, Hypospadias, Macrocephaly ORPHA:250994
Acalvaria
Omphalocele, Cleft palate ORPHA:945
Pallister-Hall-Like Syndrome
Median cleft lip, Depressed nasal bridge, Micrognathia, Cleft palate, Micropenis, Microglossia, R... OMIM:241800
Testicular Anomalies With Or Without Congenital Heart Disease
Inguinal hernia, Corpus cavernosum hypoplasia, Perineal hypospadias, Microphallus, Tetralogy of F... OMIM:615542
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Inguinal hernia, Aganglionic megacolon, Hydronephrosis, Anal atresia OMIM:235760
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Enuresis, Malar flattening, Short nose, Retrognathia, Open mouth OMIM:613670
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Renal agenesis, Underdeveloped nasal alae, Micrognathia, High, narrow ... ORPHA:2516
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Ventricular septal defect, Prominent nasal bridge, Ectopic kidney, Patent ductus art... ORPHA:1519
Mosaic Trisomy 14
Hypoplasia of penis, Anteverted nares, Prominent nasal bridge, Hypospadias, Micrognathia, Camptod... ORPHA:1703
Double Outlet Right Ventricle
Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard p... ORPHA:3426
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Omphalocele, Hamartoma of tongue, Prominent nose, Cleft lip, Pate... OMIM:616300
Lethal Congenital Contracture Syndrome 10
Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Narrow pala... OMIM:617022
Distal Duplication 6P
Prominent nasal bridge, Micrognathia, Renal hypoplasia, Thin vermilion border, Abnormality of the... ORPHA:1745
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Wide nose, Overriding aorta, Bicuspid aortic valve, Ventricular septal ... ORPHA:477817
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microgn... OMIM:613680
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Intellectual Developmental Disorder, X-Linked 91
High palate, Short nose, Macrodontia OMIM:300577
Zaki Syndrome
Wide nose, Anteverted nares, Renal agenesis, Congenital diaphragmatic hernia, Micrognathia, Paten... OMIM:619648
Distal Deletion 10P
Hypoplasia of penis, Micrognathia, Non-midline cleft lip, Wide nasal bridge, Cleft palate, Polycy... ORPHA:1580
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Micrognathia, Renal hypoplasia/aplasia, Abnormality... ORPHA:1834
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Malar flattening, Truncus arte... OMIM:611867
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Microcephaly ORPHA:398189
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Oculoauriculofrontonasal Syndrome
Pericallosal lipoma, Wide nose, Ventricular septal defect, Underdeveloped nasal alae, Bifid nasal... ORPHA:398156
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Clark-Baraitser Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Down... OMIM:617752
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spina bifida, Spinal dysraphism ORPHA:3176
Congenital Myopathy 19
Micrognathia, Renal atrophy, Depressed nasal ridge, Congenital contracture, High palate, Hydronep... OMIM:618578
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Depressed nasal bridge, Abnormal nasal morphology, Abnormal localizati... ORPHA:83473
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge, Dental malocclusion OMIM:155050
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Thin upper lip vermilion, Prominent nose, Micrognathia, Patent ductus arteriosus, Fl... OMIM:609625
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Stroke, Homocystinuria, Microcephaly OMIM:236250
Holoprosencephaly 7
Hypoplastic nasal septum, Median cleft palate, Bilateral cleft lip, Hypoplasia of the premaxilla,... OMIM:610828
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Hypospa... OMIM:616449
Developmental And Epileptic Encephalopathy 36
Macrocephaly, Hydrocephalus, Abnormal bleeding, Microcephaly OMIM:300884
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Congenital diaphragmatic hernia, Long philtrum, Atrial septal defect, Mi... OMIM:300887
Orofaciodigital Syndrome Viii
Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate OMIM:300484
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Atrial septal defect, Atrioventricul... OMIM:265380
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Bulb... OMIM:244300
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary centr... OMIM:608227
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Catifa Syndrome
Delayed eruption of teeth, Inguinal hernia, Anteverted nares, Cleft lip, Cleft palate, Increased ... OMIM:618761
Split hand/foot malformation 1 (SHFM1)
Abnormality of the urinary system, Median cleft lip, Cleft palate DECIPHER:46
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Broad nasal tip, Deep philtrum, Non-midline cleft l... ORPHA:1297
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Renal tubul... OMIM:610205
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Selective tooth agenesis, Hypospadias, Conical tooth, Cleft upper lip,... OMIM:106260
Trisomy 18
Microretrognathia, Omphalocele, Ventricular septal defect, Choanal atresia, Abnormality of the up... ORPHA:3380
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Inguinal hernia, Choanal atresia, Cleft palate, Abnormalit... ORPHA:1135
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short p... ORPHA:2429
Distal Monosomy 7Q36
Hypoplasia of penis, Micrognathia, Bulbous nose, Non-midline cleft lip, Cleft palate, Wide mouth,... ORPHA:1636
Ehlers-Danlos Syndrome, Periodontal Type, 2
Prominent superficial veins, Inguinal hernia, Atypical scarring of skin, Umbilical hernia, Colon ... OMIM:617174
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Pierpont Syndrome
Smooth philtrum, Wide nose, Broad nasal tip, Micropenis, Broad philtrum, Prominent median palatal... OMIM:602342
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis ORPHA:3033
Otopalatodigital Syndrome Type 2
Omphalocele, Abnormal heart valve morphology, Depressed nasal bridge, Hypospadias, Micrognathia, ... ORPHA:90652
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Pai Syndrome
Nasal polyposis, Depressed nasal bridge, Median cleft lip, Midline central nervous system lipomas... ORPHA:1993
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Micr... OMIM:615297
Stimmler Syndrome
Intrauterine growth retardation, Aminoaciduria, Short stature, Microcephaly ORPHA:3199
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Cleft upper lip, Anosmia, Cleft palate, Hyposmia, Micropenis OMIM:244200
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Ventricular septal d... OMIM:220500
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria OMIM:222690
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Wide nasal bri... ORPHA:3079
Xk Aprosencephaly Syndrome
Ventricular septal defect, Narrow mouth, Atrial septal defect, Abnormal nostril morphology, Micro... ORPHA:3469
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Recurrent urinary tract infections, Ventricular septal defect, Depressed n... OMIM:619103
Microphthalmia, Syndromic 11
Microphthalmia, Cleft palate, Cleft upper lip OMIM:614402
Non-Distal Duplication 13Q
Abnormality of the dentition, Micrognathia, Thin vermilion border, High palate, Everted lower lip... ORPHA:1702
Fryns Syndrome
Ureteral duplication, Tented upper lip vermilion, Renal cyst, Atrial septal defect, Microretrogna... OMIM:229850
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hernia, Hydronephrosis, Abnormal palate morphology ORPHA:251046
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom... OMIM:200990
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate, Cleft upper lip OMIM:214300
Keratoconus Posticus Circumscriptus
Vesicoureteral reflux, Recurrent urinary tract infections, Cleft palate, Cleft upper lip OMIM:244600
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Fatty Acyl-Coa Reductase 1 Deficiency
Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Smooth philtrum ORPHA:438178
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Ventricular septal defect, Cleft palate, Downturned corners of mouth, Ecto... ORPHA:94066
Whistling Face Syndrome, Recessive Form
Inguinal hernia, Prominent nasal bridge, Shoulder flexion contracture, Underdeveloped nasal alae,... OMIM:277720
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Micrognathia, Abnormal cardiac... ORPHA:2484
Brain Small Vessel Disease 2
Growth delay, Intracranial hemorrhage, Ventriculomegaly OMIM:614483
Emanuel Syndrome
Multiple joint contractures, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High... ORPHA:96170
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis, Median cleft lip, Midline central nervous system lipomas, High palate, Bifid uvula OMIM:155145
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Hypospadias, Diastema, Long philtrum, Short nose OMIM:300581
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Omphalocele OMIM:614450
Joubert Syndrome 15
Micropenis, Exencephaly, Nephronophthisis OMIM:614464
Kleefstra Syndrome
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Re... ORPHA:261494
Skraban-Deardorff Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Absent cupid's... OMIM:617616
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis, Cleft palate, Micrognathia OMIM:181180
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D... OMIM:614744
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Neural Tube Defects, Susceptibility To
Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Toluene Embryopathy
Micrognathia, Abnormal localization of kidney, Thin vermilion border, Hypoplasia of the zygomatic... ORPHA:1920
Bladder Exstrophy
Omphalocele, Recurrent urinary tract infections, Hypoplasia of penis, Inguinal hernia, Intestinal... ORPHA:93930
Femoral-Facial Syndrome
Thin upper lip vermilion, Inguinal hernia, Micrognathia, Renal hypoplasia/aplasia, Long penis, Cl... ORPHA:1988
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Choanal atresia, Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral micropht... OMIM:607597
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Atrial septal defect, Bi... OMIM:300373
Intellectual Developmental Disorder, Autosomal Recessive 13
Cleft upper lip, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Smooth philtrum OMIM:613192
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Overriding aorta, Median cleft lip, Renal hypoplasia/aplasia, Orofacial cleft, Abnor... ORPHA:3186
Lowry-Maclean Syndrome
Delayed eruption of teeth, Convex nasal ridge, Cleft palate, Abnormal heart morphology OMIM:600252
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Micro... OMIM:301043
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Neurocutaneous Melanocytosis
Renal hypoplasia/aplasia, Meningocele, Intracranial hemorrhage, Dandy-Walker malformation, Ventri... ORPHA:2481
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Prominent nose, Downturned corners of mouth, Choanal stenosis, Short philt... OMIM:601808
Isolated Anencephaly
Omphalocele, Cleft lip, Congenital diaphragmatic hernia ORPHA:563609
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Abnormal cardiac septum morphology, Thin vermilion border, Narrow mouth ORPHA:2370
Even-Plus Syndrome
Recurrent urinary tract infections, Bifid nasal tip, Depressed nasal ridge, Vesicoureteral reflux... OMIM:616854
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia OMIM:615993
Trisomy 8Q
Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Non-midline cleft lip, Wide nasal bri... ORPHA:1752
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Microphthalmia, Hydronephrosis, Anal a... ORPHA:195
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Micrognathia, Thyroid lymph... OMIM:235255
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Trisomy 12P
Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Aplasia/Hypoplasia of... ORPHA:1699
Tetrasomy 15Q26
Microretrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, High pala... OMIM:614846
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Congenital diaphragmatic hernia, Deep philtrum, Depressed nasa... ORPHA:2162
Okamoto Syndrome
Tented upper lip vermilion, Urinary incontinence, Abnormally large globe, Primum atrial septal de... ORPHA:2729
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Teebi-Shaltout Syndrome
Ureteral stenosis, Ventricular septal defect, Underdeveloped nasal alae, Broad nasal tip, High, n... OMIM:272950
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Microcephaly ORPHA:26
Tetralogy Of Fallot
Abnormal nasal morphology, Thin vermilion border, Tetralogy of Fallot ORPHA:3303
Short Stature And Facioauriculothoracic Malformations
High palate, Ventricular septal defect, Cleft palate, Cleft upper lip OMIM:609654
15Q14 Microdeletion Syndrome
Inguinal hernia, Ventricular septal defect, Prominent nasal bridge, Abnormality of the dentition,... ORPHA:261190
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, I... ORPHA:457193
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Cleft upper lip, Cleft palate, Hypodontia, Microdontia, Malar flatte... OMIM:225060
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Bulbous nose, Patent du... OMIM:613870
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... OMIM:142945
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolo... ORPHA:2473
8Q12 Microduplication Syndrome
Ventricular septal defect, Wide nasal bridge, Vesicoureteral reflux, Everted lower lip vermilion,... ORPHA:228399
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Aortic aneurysm ORPHA:261102
Trigonocephaly With Short Stature And Developmental Delay
Inguinal hernia, Ventricular septal defect, Wide nasal bridge, High palate, Broad alveolar ridges... OMIM:314320
Hartsfield Syndrome
Microphthalmia, Non-midline cleft lip, Depressed nasal bridge, Cleft palate ORPHA:2117
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Micropenis, Downturned corners of mouth, Short phil... OMIM:601224
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Arthrogryposis multiplex congenita, Non-midline cleft lip, Cleft palate ORPHA:1484
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Anteverted nares, Ventricular septal defect, Hypospadias, Cardiomegaly, Micrognathia, Flexion con... OMIM:616897
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth, Atrial septal defect, ... ORPHA:93946
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Micrognathia, High palate, Long philtrum ORPHA:2598
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Inguinal hernia, Anteverted nares, Renal hypoplasia, Narrow mouth, Vesi... OMIM:613735
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft palate, Abnor... OMIM:618571
Koolen-De Vries Syndrome
Ureteral duplication, Bicuspid aortic valve, High, narrow palate, Vesicoureteral reflux, Microdon... ORPHA:96169
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Inte... ORPHA:2970
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Long nose, Atrial septal defect, Micropenis, Thick upper lip vermilion, Hypospadias, Abnormality ... ORPHA:363444
Lambert Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Wide mouth, Malar flattening ORPHA:1296
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenital ... OMIM:614294
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:239510
Alg9-Cdg
Villous atrophy, Micrognathia, Right ventricular dilatation, Abnormal left ventricular outflow tr... ORPHA:79328
Holoprosencephaly 9
Anophthalmia, Depressed nasal bridge, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft... OMIM:610829
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... OMIM:609637
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, P... OMIM:618829
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Esophageal atresia, Pa... ORPHA:77298
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Macrocephaly OMIM:600348
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Omphalocele, Renal hypoplasia/aplasia, Intestina... ORPHA:1756
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Micrognathia, Diastema, Broad nasal tip, Patent ductus arteriosus, Hig... OMIM:609757
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Inguinal hernia, Ventricular septal defect, Wide nasal bridge, Broad secondary alveolar ridge, Hi... ORPHA:3369
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Bulbous nose, Patent ductus art... OMIM:618330
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi... ORPHA:1529
Oculodentodigital Dysplasia
Narrow nasal bridge, Neurogenic bladder, Anteverted nares, Selective tooth agenesis, Underdevelop... OMIM:164200
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Depressed nasal bridge, Ventricular septal defect, Bulbous nose, Bilateral... ORPHA:369891
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... OMIM:600987
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Wide nose, Ventricular septal defect, Bicuspid aortic valve, Aortic roo... OMIM:616652
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Nager Syndrome
Unilateral renal agenesis, Micrognathia, Abnormal nasal morphology, Hypoplasia of the maxilla, No... ORPHA:245
Bartsocas-Papas Syndrome
Median cleft lip, Underdeveloped nasal alae, Micrognathia, Renal hypoplasia/aplasia, Cleft palate... ORPHA:1234
Pallister-Hall Syndrome
Ectopic kidney, Renal cyst, Anteriorly placed anus, Micropenis, Depressed nasal bridge, Anteverte... OMIM:146510
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Patent ductus arteriosus, Everted lower lip vermilion, Pulmonic stenos... OMIM:249670
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
3Mc Syndrome 1
Omphalocele, Ventricular septal defect, Dental crowding, Diastasis recti, Cleft upper lip, Cleft ... OMIM:257920
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Dental crowding, C... OMIM:612582
Lowry-Maclean Syndrome
Inguinal hernia, Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, H... ORPHA:2409
Constricting Bands, Congenital
Omphalocele, Cleft upper lip, Cleft palate, Gastroschisis, Ectopia cordis, Bladder exstrophy OMIM:217100
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Atrial... OMIM:235510
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Cleft palate, Micrognathia OMIM:249710
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Tented upper lip vermilion, Depressed nasal bridge, Antev... OMIM:614105
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Ventricular septal defect, Choanal atresia, Prob... ORPHA:141099
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia... ORPHA:373
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Long philtrum OMIM:617895
Cerebrooculonasal Syndrome
U-Shaped upper lip vermilion, Anophthalmia, Anteverted nares, Prominent nasal bridge, Proboscis, ... OMIM:605627
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham... OMIM:174300
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... ORPHA:36382
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dela... ORPHA:819
Mesomelia-Synostoses Syndrome
Micrognathia, Aplasia/Hypoplasia of the uvula, High, narrow palate, Bulbous nose, Hydronephrosis,... ORPHA:2496
Manitoba Oculotrichoanal Syndrome
Omphalocele, Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Anteriorly placed anu... OMIM:248450
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Broad nasal tip, Micrognath... ORPHA:1655
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst, Abnormality of the dentition OMIM:615982
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Anal stenosis, Depressed nasal bridge, Anteverted nares, U... OMIM:614080
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:242600
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Short philtrum, Widely spaced teeth, Depressed nasal bridge, Cleft lip, Pulmonary artery stenosis... OMIM:280000
Acrorenal Syndrome
Renal insufficiency, Renal hypoplasia/aplasia, Micrognathia, Abnormal renal morphology, Cleft palate ORPHA:971
Lambert Syndrome
Wide mouth, Malar flattening, Inguinal hernia, Hypospadias OMIM:245550
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Unilateral renal agenesis, Abnormally large globe, Increased overbite,... OMIM:618504
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Ventricular septal defect, Micrognathia, Situs inversus totalis, Non-midli... ORPHA:1908
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Dextrocardia, Underdeveloped nasal a... ORPHA:2315
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Microcephaly OMIM:619470
Achondrogenesis
Inguinal hernia, Anteverted nares, Micrognathia, Long philtrum, Umbilical hernia, Short nose ORPHA:932
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner... ORPHA:1507
3Mc Syndrome 2
Prominence of the premaxilla, Hypospadias, Prominent nasal bridge, Diastasis recti, Cleft upper l... OMIM:265050
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Abnormality of the kidney, Broad nasal tip, Recurrent upper respiratory tr... ORPHA:391372
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, An... ORPHA:464738
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Carious teeth, Deep philtrum, Thick lower lip vermilion, Abnormal palate morpho... ORPHA:2701
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... ORPHA:1791
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Proteinuria, Micrognathia, Wide nasal bridge, Hypoplasi... OMIM:249620
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Hypoplastic right heart, Ventricular septal defect, Depressed nasal ... OMIM:618142
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria ORPHA:42062
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Micrognathia, Minimal change... OMIM:618348
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Hydrocephaly-Low Insertion Umbilicus Syndrome
Wide nose, Long nose, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormality of... ORPHA:2184
Scimitar Syndrome
Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ventricle, Patent ductus arteri... ORPHA:185
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Cleft upper lip, Anosmia, Cleft palate, Tooth agenesis, Hyposmia, Micropenis OMIM:147950
Threoninemia
Growth delay, Hyperthreoninuria OMIM:273770
Distal Triplication 15Q
Abnormality of the kidney, Micrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Dilat... ORPHA:314588
Thakker-Donnai Syndrome
Ventricular septal defect, Anteverted nares, Congenital diaphragmatic hernia, Bulbous nose, Trach... ORPHA:1780
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Ex... ORPHA:261236
Joubert Syndrome 14
Tented upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Cleft palate, Rena... OMIM:614424
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Subdural hemorrhage, Lateral ventricle dilatation, Extra-axial cerebrospinal fluid accumulation, ... OMIM:618291
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic aneurysm, Patent... OMIM:619657
Acrocardiofacial Syndrome
Hypoplasia of penis, Mitral stenosis, Ventricular septal defect, Hypospadias, Cleft upper lip, Ca... ORPHA:2008
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Kury-Isidor Syndrome
Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, High palate, Widely spac... OMIM:619762
Kallmann Syndrome-Heart Disease Syndrome
Short lingual frenulum, Renal agenesis, Partial anosmia, Total anosmia, Anomalous origin of left ... ORPHA:2326
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Kleeblattschaedel
Hydrocephalus OMIM:148800
8P23.1 Microdeletion Syndrome
Hypospadias, Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Patent ductus... ORPHA:251071
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Mitral valve prolapse, Long philtrum, Short nose ORPHA:90653
46,Xy Sex Reversal 4
Renal dysplasia, Anteverted nares, Prominent nose, Micrognathia, Depressed nasal ridge, Cleft pal... OMIM:154230
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Micrognathia, Cleft palate, Vesicoureteral reflux, Arthrogryposis multiplex congenita, Retrognath... OMIM:618265
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Arthrogryposis multiplex congeni... OMIM:607598
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Anal atresia, Tetralogy of Fall... ORPHA:1381
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft OMIM:141400
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Anteverted nares, Intestinal malrotation, Congenital diaphragmatic hernia OMIM:601163
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus... OMIM:300048
Congenital Heart Defects And Skeletal Malformations Syndrome
Smooth philtrum, Ventricular septal defect, Dental crowding, Intestinal malrotation, Hypospadias,... OMIM:617602
Juberg-Hayward Syndrome
Anteriorly placed anus, Horseshoe kidney, Cleft upper lip OMIM:216100
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Microcephaly ORPHA:1528
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal brid... OMIM:618622
Carey-Fineman-Ziter Syndrome
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Glandula... ORPHA:1358
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Broad nasal tip, Bifid nasal tip, Secundum atrial septal defect, Absence of renal corticomedullar... OMIM:619758
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Robin sequence, Wi... OMIM:613604
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Patent ductus arteriosus, Thick lower lip vermilion, Widely spaced tee... OMIM:619797
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Ventricular septal defect, Diastasis recti, Abnormal heart morphology, Umbilical hernia ORPHA:254534
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Neoplasm of the h... ORPHA:2241
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Depressed nasal bridge, Hernia, Microphthalmia, Nephroblastoma, Smooth... OMIM:602501
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Meckel Syndrome, Type 4
Ventricular septal defect, Renal cyst, Cleft palate, Atrial septal defect, Microphthalmia OMIM:611134
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Ventricular septal defect, Optic nerve hypoplasia, Hypospadias, Ves... OMIM:301056
2,4-Dienoyl-Coa Reductase Deficiency
Microcephaly, Hydrocephalus, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Increased CSF l... OMIM:616034
Peroxisome Biogenesis Disorder 6A (Zellweger)
Wide nasal bridge, Renal cyst OMIM:614870
Parietal Foramina 1
Cleft palate, Cleft upper lip OMIM:168500
9q subtelomeric deletion syndrome