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Gene: Tgfb2 MGI:98726

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
transforming growth factor, beta 2
Synonyms:
Tgf-beta2,  Tgfb-2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Tgfb2 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 Tgfb2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... ORPHA:91387
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, High, narrow palate, Abnormal sternum morphology, High palate, Broad uvula... OMIM:614816

The table below shows human diseases predicted to be associated to Tgfb2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Arterial Dissection With Lentiginosis
Arterial dissection, Cystic medial necrosis OMIM:600459
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Lactose Intolerance, Adult Type
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223100
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Coronary Artery Dissection, Spontaneous
Cystic medial necrosis, Coronary artery dissection OMIM:122455
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... ORPHA:229
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection OMIM:618496
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Crypt hyperplasia OMIM:613217
Aneurysm, Intracranial Berry, 3
Cerebral berry aneurysm OMIM:609122
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Carpenter Syndrome 1
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Hyp... OMIM:201000
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Neurocardiofaciodigital Syndrome
Syndactyly, Optic disc pallor, Cataract, Failure to thrive, Small for gestational age, Sclerocorn... OMIM:619869
Alagille Syndrome
Corneal dystrophy, Micrognathia, Abnormal pupil morphology, Abnormal form of the vertebral bodies... ORPHA:52
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... ORPHA:103907
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s... OMIM:619445
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
Distal Deletion 10Q
Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormali... ORPHA:96148
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Ritscher-Schinzel Syndrome 2
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C... OMIM:300963
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Multiple pterygia, Micrognathia, Sym... ORPHA:2990
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morp... OMIM:274000
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy, Vomiting, Diarrhea OMIM:615863
Rubinstein-Taybi Syndrome 1
Respiratory distress, Dental crowding, Single transverse palmar crease, Premature thelarche, Micr... OMIM:180849
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Long thorax, Narrow greate... OMIM:617925
Osteopathia Striata-Cranial Sclerosis Syndrome
Micrognathia, High, narrow palate, Conductive hearing impairment, Large iliac wing, Spina bifida ... ORPHA:2780
Recombinant Chromosome 8 Syndrome
Micrognathia, Downturned corners of mouth, Clinodactyly of the 5th finger, Atrial septal defect, ... OMIM:179613
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Short neck, Colob... ORPHA:508498
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, High palate, Conductive hearing impairment, Clinodactyly of the 5th finger, Spin... OMIM:617877
Aneurysm Of Interventricular Septum
Vascular dilatation OMIM:105805
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
8Q24.3 Microdeletion Syndrome
Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Ectopic pos... ORPHA:508488
Trisomy 13
High, narrow palate, Abnormal lung lobation, Narrow chest, Atrial septal defect, Iris coloboma, B... ORPHA:3378
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Hemivertebrae, Holoprosencephaly, Atrial septal defect, Micropenis, Encephalo... OMIM:264480
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial se... OMIM:607323
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Charge Syndrome
Bifid scrotum, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the s... ORPHA:138
Aortic Aneurysm, Familial Thoracic 12
Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic dissection OMIM:619825
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Vesicoureteral reflux, Pulmonary artery atresia, Micropenis, Hypospadias, Cryptorchidism, Postaxi... OMIM:301056
3C Syndrome
Hypoplasia of penis, Adrenal hypoplasia, Micrognathia, Short neck, High, narrow palate, Hemiverte... ORPHA:7
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Abnormal lung lobation, Posterior ri... OMIM:265380
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulat... OMIM:220210
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:1053
22Q11.2 Duplication Syndrome
Ventricular septal defect, Micrognathia, Urethral stenosis, Cleft palate, Anterior creases of ear... ORPHA:1727
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectu... ORPHA:1507
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Peroxisome Biogenesis Disorder 1A (Zellweger)
Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, High, narrow palate, Aminoacid... OMIM:214100
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Fanconi Anemia
Micrognathia, Abnormal femur morphology, High palate, Abnormality of the uterus, Triphalangeal th... ORPHA:84
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Sandestig-Stefanova Syndrome
Small for gestational age, Rocker bottom foot, Underdeveloped tragus, Short neck, Muscular ventri... OMIM:618804
1Q21.1 Microdeletion Syndrome
High palate, Vesicoureteral reflux, Clinodactyly of the 5th finger, Iris coloboma, Broad hallux p... ORPHA:250989
Alg9-Cdg
Villous atrophy, Micrognathia, Short neck, Abnormal lung lobation, Right ventricular dilatation, ... ORPHA:79328
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Prominent fingertip pads, Thin upper lip vermilion, Sandal gap, High, narro... OMIM:612863
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Velocardiofacial Syndrome
Impaired T cell function, Abnormality of the ear, Unilateral primary pulmonary dysgenesis, Pulmon... OMIM:192430
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial ... OMIM:619534
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
3Mc Syndrome 1
Conjunctival telangiectasia, Dental crowding, Conductive hearing impairment, Clinodactyly of the ... OMIM:257920
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Prote... OMIM:235510
Brittle Cornea Syndrome 1
Keratoconus, Congenital hip dislocation, Mitral valve prolapse, Keratoglobus, Abnormal cornea mor... OMIM:229200
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Glossoptosis, Vert... OMIM:611209
Seckel Syndrome 9
Recurrent respiratory infections, Ambiguous genitalia, Recurrent urinary tract infections, Ventri... OMIM:616777
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Dextrotransp... OMIM:306955
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior a... ORPHA:536467
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Aplasi... ORPHA:2256
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Abnormal lung lobation, Orofacial cleft, High palate, Clin... OMIM:607872
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Underdeveloped superior crus of antihelix, Micrognathia, Protruding ear, Sprengel anomaly, Abnorm... ORPHA:293967
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Micropenis, Thick upper lip vermilion, Premature ovarian insufficiency, Hyp... ORPHA:363444
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Charge Syndrome
Abnormal palmar dermatoglyphics, External genital hypoplasia, Micrognathia, Secundum atrial septa... OMIM:214800
Zellweger Syndrome
Micrognathia, High palate, Death in infancy, Multicystic kidney dysplasia, Abnormal chorioretinal... ORPHA:912
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Sclerocornea, Micrognathia, Congenital diaphragmatic hernia, Abnormal fo... ORPHA:280
Robinow Syndrome
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Hemivertebrae, Orofaci... ORPHA:97360
Down Syndrome
Single transverse palmar crease, Short palm, Hypoplastic iliac wing, Atrial septal defect, Atriov... OMIM:190685
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Apnea, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High pala... OMIM:300373
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity OMIM:616166
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo... ORPHA:2311
Heart And Brain Malformation Syndrome
Attached earlobe, Ventricular septal defect, Camptodactyly of finger, Posteriorly rotated ears, W... OMIM:616920
Cardiac Valvular Dysplasia 1
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s... OMIM:212093
Meier-Gorlin Syndrome 7
Urethral stricture, Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, Hi... OMIM:617063
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm OMIM:604308
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Death in infancy, Thin upper lip vermilion, Micrognathia, Wide anterior f... OMIM:619135
Distal Triplication 15Q
Corneal dystrophy, Micrognathia, Large for gestational age, Flexion contracture, Abnormal sternum... ORPHA:314588
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated ears, Micrognathia, Complet... OMIM:619343
Oculofaciocardiodental Syndrome
Microcornea, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Short thumb... ORPHA:2712
Williams Syndrome
Abnormal form of the vertebral bodies, Protruding ear, Nephrocalcinosis, Microdontia, Hypogonadot... ORPHA:904
Peters Plus Syndrome
Ureteral duplication, Micromelia, Micrognathia, Short neck, Bicuspid pulmonary valve, Microcornea... ORPHA:709
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Prominent superficial blood v... OMIM:619472
Chromosome 9P Deletion Syndrome
Micrognathia, Short neck, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, ... OMIM:158170
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Atrial septal defect, Conductive hearing i... OMIM:150250
Craniofacioskeletal Syndrome
Micrognathia, Short philtrum, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, B... OMIM:300712
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Sh... OMIM:609945
22Q11.2 Deletion Syndrome
Impaired T cell function, Micrognathia, Short neck, Abnormal lung lobation, Abnormal aortic arch ... ORPHA:567
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Decreased response to growth hormone stimulation test, Proximal placement ... OMIM:601808
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Holoprosencep... OMIM:269860
Hamamy Syndrome
Micrognathia, High palate, Clinodactyly of the 5th finger, Atrial septal defect, Long toe, Syndac... OMIM:611174
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Brittle Cornea Syndrome
Hallux valgus, Retinal detachment, Arachnodactyly, Corneal dystrophy, Abnormality of the dentitio... ORPHA:90354
Femoral-Facial Syndrome
Maternal diabetes, Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplas... ORPHA:1988
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Ventricular septal defect, Op... OMIM:620025
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Short philtrum, Atrial septal defect, Pulmonary artery atresia, Patent fo... OMIM:618316
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Accessory oral frenulum, Hypoplasia of the maxilla, Complete atrioventricu... OMIM:619142
Czeizel-Losonci Syndrome
Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Prominent antit... ORPHA:2437
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Dental crowding, Urinary incontinence, Abnormality of the hand, Tapered finger... ORPHA:476126
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Maternal diabetes, Cardiomegaly, Tachypnea, Abnormal aortic ... ORPHA:860
Mosaic Trisomy 1
Thoracic scoliosis, Single transverse palmar crease, Congenital diaphragmatic hernia, Renal cyst,... ORPHA:1692
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Aortic dissection OMIM:135580
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Coffin-Siris Syndrome 1
Single transverse palmar crease, Congenital diaphragmatic hernia, Ectopic kidney, Conical tooth, ... OMIM:135900
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Cyanosis, Single transverse palmar crease, Micrognath... ORPHA:3304
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Scimitar Syndrome
Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the di... ORPHA:185
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Sacral dimple, Vertebral fusion, Bicuspid aortic valve, Unilateral renal agenes... OMIM:618845
Neonatal Marfan Syndrome
Micrognathia, High, narrow palate, Flexion contracture, Pectus carinatum, Enlarged thorax, Megalo... ORPHA:284979
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Failure to thrive, Bicuspid aortic valve, Short neck, Cleft upper lip, ... OMIM:243310
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Renal agenes... OMIM:212780
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary ... OMIM:270100
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, High palate, Astigmatism, Pulmonic stenosis, Taurodonti... OMIM:618205
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Hypogonadotropic hypogonadism, Short lingual frenulum, Renal agenesis, Anomalous origin... ORPHA:2326
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... OMIM:614823
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Apnea, Maternal diabetes, Cardiomegaly, Secund... OMIM:300855
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Short 2nd finger, Broad hallux, Ventricular septal defect, Sandal gap, ... OMIM:600987
Microphthalmia, Syndromic 2
Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Oligodontia, Fus... OMIM:300166
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... OMIM:218600
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Patent ductus arteriosus... ORPHA:1972
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect, Protruding... OMIM:249420
Leopard Syndrome 1
Mandibular prognathia, Limited elbow movement, Short neck, Pectus carinatum, Protruding ear, Apla... OMIM:151100
Jejunal Atresia
Jejunal atresia OMIM:243600
Costello Syndrome
Keratoconus, Low-set, posteriorly rotated ears, Ventricular septal defect, Abnormal dental enamel... ORPHA:3071
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Renal hypoplasia/aplasi... ORPHA:1166
Feingold Syndrome Type 1
Micrognathia, Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the ... ORPHA:391641
Alagille Syndrome 1
Multiple small medullary renal cysts, Hemivertebrae, Microcornea, Papillary thyroid carcinoma, Ve... OMIM:118450
Mosaic Trisomy 9
Hypoplasia of penis, Micromelia, Micrognathia, Short neck, Hemivertebrae, Abnormal lung lobation,... ORPHA:99776
Diamond-Blackfan Anemia 1
Micrognathia, Short neck, Hypoplastic coccygeal vertebrae, High palate, Narrow chest, Triphalange... OMIM:105650
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Pro... ORPHA:235
Okamoto Syndrome
Tented upper lip vermilion, Urinary incontinence, Primum atrial septal defect, Downturned corners... ORPHA:2729
Arterial Tortuosity Syndrome
Carotid artery dissection, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Pe... OMIM:208050
Fryns Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Short neck, Abnormal a... ORPHA:2059
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... ORPHA:91387
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Hemivertebrae, ... OMIM:134780
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Short neck, Decreased circulating T4 concentration, Cryptorchidism, Patent duct... OMIM:608104
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot olig... ORPHA:3258
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, He... ORPHA:79500
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Hyperextensibility of the finger joints, Downturned corners of mouth, High... OMIM:135500
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Pectus carinatum, Downt... OMIM:618371
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Mesomelic/rhizomelic limb shor... ORPHA:1354
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Bull's eye maculopathy, Decreased response to growth hor... OMIM:213980
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Conductive hearing impairment, Chronic otitis media, Abnormal sperm motil... ORPHA:244
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, A... OMIM:619797
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Abnormal hand morphology, Premature grayin... OMIM:300845
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Skeletal muscle atrophy, Apnea, Flexion contracture, Ragged-red muscle fibe... ORPHA:17
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... OMIM:619079
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Bardet-Biedl Syndrome 19
Cone/cone-rod dystrophy, Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydacty... OMIM:615996
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microcornea, Coloboma, Vertebral segmentation defect, Triphalangeal thumb,... ORPHA:959
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hypoplasia of the iris, Chorior... ORPHA:2092
White Forelock With Malformations
Low-set, posteriorly rotated ears, Finger syndactyly, Deep philtrum, Abnormal rib morphology, Cli... ORPHA:2475
Trisomy 17P
Skeletal muscle atrophy, Hypoplasia of penis, Micrognathia, Short neck, Flexion contracture, Orof... ORPHA:261290
Digeorge Syndrome
Impaired T cell function, Sclerocornea, Micrognathia, High, narrow palate, Parathyroid hypoplasia... OMIM:188400
Keutel Syndrome
Sinusitis, Deep philtrum, Pulmonary artery hypoplasia, Emphysema, Short hallux, Premature fusion ... OMIM:245150
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Ambiguous genitalia, Ventricular septal defect, Hypoplastic right he... OMIM:618142
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Nephrocalci... OMIM:268310
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Micrognathia, Pylori... ORPHA:261197
Monosomy 18Q
Mandibular prognathia, Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Bilateral ... ORPHA:1600
Three M Syndrome 1
Mandibular prognathia, Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Sp... OMIM:273750
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Retinal detachment, Cataract, Broad hallux, Ovoid vertebral bodies, Heari... ORPHA:1856
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Micrognathia, Cleft upper lip, Cleft palate, Renal cyst, ... OMIM:231060
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Large for gestational age, Hemivertebrae, Abno... ORPHA:672
Telangiectasia, Hereditary Benign
Vascular dilatation OMIM:187260
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Tachypnea, Cervical cord com... ORPHA:79345
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Hypospadias, Absent thumb, Micro... ORPHA:96097
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Shor... OMIM:612474
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Brachydactyly, Thin upper lip vermilion, Ventricular sept... ORPHA:401935
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Micrognathia, Agenesis of pulmonary vessels, Neonatal death, Atr... OMIM:601186
Primary Pulmonary Hypoplasia
Apnea, Micrognathia, Secundum atrial septal defect, Tachypnea, Patellar hypoplasia, Abnormal brea... ORPHA:2257
Suleiman-El-Hattab Syndrome
Single transverse palmar crease, Protruding ear, Downturned corners of mouth, High palate, Atrial... OMIM:618950
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Abnormality of the dentition, Pectus exca... OMIM:615398
Gapo Syndrome
Mandibular prognathia, Abnormal clavicle morphology, Dysmenorrhea, Abnormal cerebral vascular mor... ORPHA:2067
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognat... OMIM:263210
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Cataract, Ventricular septal defect, Rhiz... ORPHA:93267
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Large for gestational age, Tibial bowing, Protruding ear, Spina bifida occulta, Long hallux, Mult... ORPHA:500095
Verheij Syndrome
Branchial cyst, Vertebral fusion, Thin upper lip vermilion, Truncus arteriosus, Ventricular septa... OMIM:615583
Pagod Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Abnor... ORPHA:991
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Single transverse palmar crease, 3-5 toe syndactyly, Vesicoureteral reflux... OMIM:300707
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Aortic aneurysm OMIM:614980
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Axial malrotation of the kidney, Genu v... ORPHA:3320
Emanuel Syndrome
Congenital hip dislocation, Multiple joint contractures, Dental crowding, Congenital diaphragmati... ORPHA:96170
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Micrognathia, Secundum atrial septal defect, Short neck, Death in infanc... OMIM:608779
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Decreased palmar creases, Micrognathia, Cryptorchidism, Kyphosis, Narr... ORPHA:352490
Arterial Tortuosity Syndrome
Respiratory distress, Coxa vara, Clinodactyly of the 5th finger, Keratoconus, Arachnodactyly, Pre... ORPHA:3342
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Intellectual Developmental Disorder, Autosomal Dominant 66
Aortic root aneurysm, Transposition of the great arteries, Cerebral cavernous malformation OMIM:619910
1P36 Deletion Syndrome
Hypoplasia of penis, Renal cyst, Clinodactyly of the 5th finger, Conductive hearing impairment, H... ORPHA:1606
Phaver Syndrome
Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Pulmon... ORPHA:2876
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Beaded ribs, Cardiomegaly, Micrognathia, Short neck, Flexion contracture, Large fleshy ears, Micr... OMIM:616897
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Single transverse palmar crease, Micrognathia, Abnormal form of the verteb... OMIM:194190
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High ... OMIM:609029
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Renal insufficiency, Cyanosis, Ventricular septal defect, Overlapping toe, Part... OMIM:617478
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Intracranial hemorrhage, Short philtrum, Atrial septal d... ORPHA:163979
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Protruding ear, Microcornea, High palate, Atrial septal defect, Ecchymosis, Abnormal anterior cha... OMIM:601776
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Decreased palmar creases, Reduced forced expiratory volume in one second, ... OMIM:108145
Koolen-De Vries Syndrome
Bicuspid aortic valve, Anteverted ears, High palate, Widely spaced teeth, Prominent fingertip pad... OMIM:610443
3M Syndrome
Congenital hip dislocation, Abnormal cerebral vascular morphology, Micromelia, Short neck, Increa... ORPHA:2616
Noonan Syndrome With Multiple Lentigines
Pectus carinatum, Severe sensorineural hearing impairment, Atrioventricular canal defect, Spina b... ORPHA:500
Hadziselimovic Syndrome
Ventricular hypertrophy, Failure to thrive, Ventricular septal defect, Posteriorly rotated ears, ... OMIM:612946
Marfan Syndrome
Decreased muscle mass, Bicuspid aortic valve, Dental crowding, Equinus calcaneus, Micrognathia, F... OMIM:154700
Tarp Syndrome
Apnea, Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial septal defect, Small e... ORPHA:2886
Stankiewicz-Isidor Syndrome
Ureteral duplication, Sacral dimple, Ventricular septal defect, Hypospadias, Absent thumb, Microg... OMIM:617516
Short Stature-Micrognathia Syndrome
Small scrotum, Bowing of the legs, Micrognathia, Metaphyseal widening, High palate, Micropenis, P... OMIM:617164
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Decreased palmar creases, Cervical kyphosis, Functional abnormality of the... ORPHA:2953
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... OMIM:301040
Cog7-Cdg
Failure to thrive, Small for gestational age, Abnormality of the kidney, Micrognathia, Short neck... ORPHA:79333
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... ORPHA:90652
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Melnick-Needles Syndrome
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... OMIM:309350
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, High palate, Spina ... OMIM:193700
Van Esch-O'Driscoll Syndrome
Sacral dimple, Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresia, Pulm... OMIM:301030
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... ORPHA:464738
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, High, narrow palate, Abnormal sternum morphology, High palate, Broad uvula... OMIM:614816
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Single transverse palmar crease, Congenital diaphragmatic hernia, Microgn... ORPHA:96121
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Peripheral retinal avascularization, Tented upper lip vermilion, Single tr... ORPHA:96334
Zttk Syndrome
Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protrudi... OMIM:617140
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Skeletal muscle atrophy, Posteriorly rotated ears, Rocker bottom foot, Microgna... OMIM:618393
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Osteolysis involving bones ... ORPHA:371428
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... OMIM:217085
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Proximal placement of thumb, Micromelia, Micrognathia, High, nar... OMIM:122470
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Central heterochromia, Skeletal muscle atrophy, Optic disc hypop... ORPHA:233
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Congenital hip dislocation, Multiple joint contractures, Single transver... OMIM:618291
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Optic atrophy, Hip dislocatio... OMIM:618651
Orofaciodigital Syndrome Xvii
Median cleft lip, Short neck, Short middle phalanx of the 2nd finger, High, narrow palate, Partia... OMIM:617926
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Anteriorly placed anus, Prominent fingertip pads, Atrial septal defect, Pate... OMIM:618494
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea OMIM:613291
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endplates, Shoulder dislocati... OMIM:143095
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... ORPHA:1452
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Single transverse palmar crease, Uplifted earlobe, Pectus carinatum, ... OMIM:616449
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Metatarsus... ORPHA:1388
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Micrognathia, Short neck, Pectus carinatum, Knee flexion contracture, High... OMIM:121050
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Cleft upper lip, Pectus excavatum, Cleft palate, Palmoplantar cutis laxa, ... OMIM:268850
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Donnai-Barrow Syndrome
Retinal detachment, Diaphragmatic eventration, Cataract, Ventricular septal defect, Retinal dystr... OMIM:222448
Distal Deletion 15Q
Bicuspid aortic valve, Single transverse palmar crease, Congenital diaphragmatic hernia, Microgna... ORPHA:1596
Cat Eye Syndrome
Micrognathia, Chorioretinal coloboma, Vesicoureteral reflux, Atrial septal defect, Iris coloboma,... OMIM:115470
8P23.1 Duplication Syndrome
Toe syndactyly, Ventricular septal defect, Thick vermilion border, Adrenal insufficiency, Pulmoni... ORPHA:251076
Roberts-Sc Phocomelia Syndrome
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Coloboma, High palate, Atria... OMIM:268300
8P23.1 Microdeletion Syndrome
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Short neck, Enlarged ... ORPHA:251071
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common at... OMIM:616749
Van Bogaert-Hozay Syndrome
Abnormal pinna morphology, Micrognathia, Osteolytic defects of the phalanges of the hand, Astigma... OMIM:277150
Tarp Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Atrial septal defect, N... OMIM:311900
Diabetic Embryopathy
Ureteral duplication, Micrognathia, Vertebral segmentation defect, Micropenis, Abnormality of the... ORPHA:1926
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:610168
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Proximal placement of thumb, Micrognathia, Short neck, Anteriorly placed an... OMIM:217980
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Failure to thrive, Diabetes mellitus, Single transverse palmar crease, Abn... ORPHA:391372
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Single transverse palmar crease, Micrognathia, Short neck, High palate, ... OMIM:611890
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Sacral dimple, Overlapping toe, Small for gestational age, Postaxial po... OMIM:613792
Arthrogryposis, Distal, Type 1C
Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ... OMIM:619110
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c... OMIM:265000
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Sclerocornea, Micrognathia, Lateral clavicle hook, Hyp... OMIM:600920
De Barsy Syndrome
Decreased muscle mass, Congenital hip dislocation, Coxa vara, Prominent veins on trunk, High pala... ORPHA:2962
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Short neck, Reduced forced vital capacity, Reduced forced expiratory... OMIM:613686
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Dextrocardia,... OMIM:173800
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Trisomy 18
Congenital diaphragmatic hernia, Microcornea, Pointed helix, Holoprosencephaly, Atrial septal def... ORPHA:3380
Mosaic Trisomy 20
Micrognathia, Vertebral segmentation defect, Narrow chest, Limited pronation/supination of forear... ORPHA:1724
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... OMIM:304120
Insulin-Like Growth Factor I, Resistance To
Micrognathia, High palate, Atrial septal defect, Decreased body weight, Patent foramen ovale, Lon... OMIM:270450
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivert... ORPHA:958
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... OMIM:147750
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Short neck, Flexion contracture, Protruding ear, High palate, Atrial septal defect, Decreased bod... OMIM:617452
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Congenital hi... ORPHA:217346
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Pseudoepiphyses, Conductive hearing impairment, Vesicoureteral r... OMIM:157800
Chime Syndrome
Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Abnormality of the kidney, A... ORPHA:3474
Cardiomyopathy, Familial Restrictive, 3
Aortic aneurysm OMIM:612422
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Persistent left superior vena cava OMIM:609008
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Singl... ORPHA:264450
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thick upper lip vermilion, Thin upper lip vermilion, Ventricular septal defect, Posteriorly rotat... OMIM:617360
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Failure to thrive, Ventricular septal defect, Cutis marmorata, Protruding tongue, Short neck, Cry... OMIM:612938
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn... ORPHA:1352
Kagami-Ogata Syndrome
Long clavicles, Ventricular septal defect, Diastasis recti, Kyphoscoliosis, Coxa valga, Micrognat... OMIM:608149
Trisomy 1Q
Small scrotum, Congenital diaphragmatic hernia, Microretrognathia, Multicystic kidney dysplasia, ... ORPHA:261344
Campomelic Dysplasia
Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cer... OMIM:114290
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Small scrotum, Short philtrum, Short tibia, Micropenis, Decreased circulati... OMIM:607143
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Sclerocornea, Micrognathia, Congenital diaphrag... ORPHA:818
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia OMIM:615703
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Chorioretinal dysplasia, Sclerocornea, Micrognathia, Congenital diaphragmat... ORPHA:2556
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop... OMIM:308050
Lowry-Maclean Syndrome
Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the... ORPHA:2409
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology, Maternal... ORPHA:1208
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Chorioretinal dysplasia, Micrognathi... ORPHA:534
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Foot dorsiflexor weakness, Ove... ORPHA:477817
Melnick-Needles Syndrome
Micrognathia, Narrow chest, Vesicoureteral reflux, Anisospondyly, Short thorax, Abnormal rib morp... ORPHA:2484
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of ... OMIM:616894
Peters-Plus Syndrome
Ureteral duplication, Hypoplasia of the vagina, Short lingual frenulum, Single transverse palmar ... OMIM:261540
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, Coloboma, Oti... ORPHA:353281
Microphthalmia, Syndromic 3
Anterior pituitary hypoplasia, Sclerocornea, Hemivertebrae, Coloboma, Micropenis, Vertebral hypop... OMIM:206900
Limb Body Wall Complex
Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Aplasia of the proximal phalanges o... ORPHA:2369
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa... ORPHA:217085
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set, posteriorly r... ORPHA:1908
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Large for gestational age, Palmoplantar hyperkeratosis, Short philtrum, Widely ... OMIM:280000
Hydrolethalus Syndrome 1
Micrognathia, Abnormal lung lobation, Severe hydrocephalus, Hypospadias, Bifid uterus, Low-set ea... OMIM:236680
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Diarrhea, Malabsorption OMIM:600955
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Koolen-De Vries Syndrome
Ureteral duplication, Bicuspid aortic valve, High, narrow palate, Protruding ear, Vertebral segme... ORPHA:96169
Abruzzo-Erickson Syndrome
Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Cryptorchidism, Conductive hearing i... ORPHA:921
Acrocraniofacial Dysostosis
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Abnorma... ORPHA:949
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Feingold Syndrome 1
Micrognathia, High palate, Short thumb, Patent ductus arteriosus, Short toe, Esophageal atresia, ... OMIM:164280
Microtriplication 11Q24.1
Keratoconus, Attached earlobe, Posteriorly rotated ears, Short neck, Metatarsus adductus, Small h... ORPHA:289522
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... ORPHA:280679
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... OMIM:618780
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa... ORPHA:217093
Donnai-Barrow Syndrome
Retinal detachment, Retinal dystrophy, Ventricular septal defect, Intestinal malrotation, Protein... ORPHA:2143
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Micrognathia, Protruding ear, High palate, Short philtrum, Camptodactyly o... ORPHA:261337
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal lun... ORPHA:1120
Acrodysostosis
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Abnormal form of ... ORPHA:950
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, Narrow greater sciatic notch, High palate, Conductive hearing impairment, Joint con... OMIM:602471
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Smooth philtrum, Ulnar deviation of the hand, Ventricular septal defect, Posteriorly rotated ears... OMIM:620113
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Camptodactyly of finger, Corneal dystrophy, Hypoplasia of the musculature,... ORPHA:1101
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu... OMIM:212720
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect... ORPHA:1329
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p... OMIM:617061
Contractures-Developmental Delay-Pierre Robin Syndrome
Micrognathia, High, narrow palate, Abnormal finger morphology, Glossoptosis, Abnormality of front... ORPHA:436003
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Bilateral cleft palate, Bicuspid aortic valve, Unilateral renal agenesis,... OMIM:614900
Alg3-Cdg
Cataract, Abnormal pinna morphology, Abnormality of the endocrine system, Metaphyseal chondrodysp... ORPHA:79321
Fountain Syndrome
Abnormal form of the vertebral bodies, Spina bifida occulta, Spina bifida, Gingival overgrowth, L... ORPHA:3219
Alport Syndrome
Thickening of glomerular capillary wall, Mesangial hypercellularity, Macular degeneration, Cough,... ORPHA:63
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Short neck, High palate, Atrial septal defect, Decreased... ORPHA:505237
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:609192
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Aortic aneurysm ORPHA:98892
2Q31.1 Microdeletion Syndrome
Micrognathia, Short neck, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ... ORPHA:251014
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Precocious atherosclerosis, Adrenal hypoplasia, Mitral valve prolapse, S... ORPHA:230839
Kury-Isidor Syndrome
Finger syndactyly, Sacral dimple, Tented upper lip vermilion, Ventricular septal defect, Rocker b... OMIM:619762
Incontinentia Pigmenti
Abnormal hand morphology, Orofacial cleft, Uveitis, Spina bifida occulta, Finger syndactyly, Abno... ORPHA:464
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Failure to thrive, Ventricular septal defect, Tracheomalacia, Micrognath... OMIM:612561
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Noonan Syndrome 4
Ureteral duplication, Short neck, Large for gestational age, Abnormal sternum morphology, Thicken... OMIM:610733
Recombinant 8 Syndrome
Small scrotum, Micrognathia, Downturned corners of mouth, Abnormal sternum morphology, Clinodacty... ORPHA:96167
Marfan Syndrome
Skeletal muscle atrophy, Dental crowding, Limited elbow movement, Micrognathia, High, narrow pala... ORPHA:558
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Thin upper lip vermilion, Neonatal respirat... ORPHA:457193
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Bilateral cry... OMIM:602535
Peripartum Cardiomyopathy
Orthopnea, Diabetes mellitus, Left atrial enlargement, Abnormality of thyroid physiology, Crackle... ORPHA:563
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... OMIM:253010
Cutis Laxa, Autosomal Recessive, Type Ic
Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, Morgagni diaphragmatic hernia,... OMIM:613177
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Abnormal pinna morph... OMIM:184705
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Failure to thrive, Ventricular septal defect, Impaired T cell function, Postaxi... OMIM:614576
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus... ORPHA:192
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
1Q21.1 Microduplication Syndrome
Failure to thrive, Cataract, Hypospadias, Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dys... ORPHA:250994
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Downturned co... ORPHA:500150
Coronary Arterial Fistula
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Tachypnea, Coronary art... ORPHA:2041
Holt-Oram Syndrome
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... OMIM:142900
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses... OMIM:305620
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Cerebellar-Facial-Dental Syndrome
Single transverse palmar crease, Micrognathia, Short neck, Tapered finger, Cryptorchidism, Ascend... ORPHA:444072
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Megalocorne... OMIM:228520
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi... ORPHA:141152
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Reduced subcutaneous adipose tissue, Failure to thrive, Overlapping toe, Hypospadi... OMIM:613026
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Ventricular septal defect, Thoracolumbar scoliosis, Lop ear, Pectus exc... OMIM:300472
Chylomicron Retention Disease
Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Steatorrhea OMIM:246700
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Exte... OMIM:615993
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Micrognathia,... OMIM:615524
Focal Dermal Hypoplasia
Ureteral duplication, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia st... OMIM:305600
Stuve-Wiedemann Syndrome 1
Apnea, Single transverse palmar crease, Micrognathia, Short neck, Tibial bowing, Femoral bowing, ... OMIM:601559
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis, Pectus excavatum, Esophageal atresia, Muscular ventric... OMIM:619227
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Reduced progressive sperm motility... OMIM:619608
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Kyphoscoliosis, Micrognathia, Pectus excavatum, High, narrow palate, Co... OMIM:617808
Holoprosencephaly
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Deep philtrum, Panhypopituitari... ORPHA:2162
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac... OMIM:602782
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching OMIM:606217
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Corneal opacity, Patent... ORPHA:290
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Camptodactyly of toe, Hyperplas... OMIM:300280
Prune Belly Syndrome
Congenital hip dislocation, Vertebral segmentation defect, Abnormality of the uterus, Vesicourete... ORPHA:2970
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Micrognathia, Short neck, P... OMIM:245600
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Abnormal number of incisors, Coxa valga, Cryptorchidism, Abnormal fundus morphology, Finger clino... ORPHA:2958
X-Linked Intellectual Disability, Nascimento Type
Deep philtrum, Downturned corners of mouth, Vesicoureteral reflux, Micropenis, Patent foramen ova... ORPHA:163956
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congeni... ORPHA:2255
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Wide anterior fontanel, Patent ductus arteriosus, Abnormality of th... OMIM:614886
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal... ORPHA:485405
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Corneal opacity, Coarctation of aorta, Abnormal aortic morphology, Tri... ORPHA:2396
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... OMIM:151050
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Atrial septal defect, Bifid uvula, Tapered finger, Patent ductus arteriosus... OMIM:300968
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Aqueductal stenos... OMIM:154400
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta OMIM:615779
Arboleda-Tham Syndrome
Mandibular prognathia, Respiratory distress, Secundum atrial septal defect, Bilateral cryptorchid... OMIM:616268
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Multiple joint contractures, Single transverse palmar... ORPHA:536471
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Kleefstra Syndrome
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Re... ORPHA:261494
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Renal agenesis, Micrognathia, Short neck, High, narrow palate, Renal h... ORPHA:2516
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Bilateral single transve... ORPHA:1786
Phenobarbital Embryopathy
Mandibular prognathia, Hypospadias, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Low-set ... ORPHA:1919
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Orofacial cleft, Vertebral segmentation defect, Holoprosencephal... ORPHA:3186
Takenouchi-Kosaki Syndrome
Proximal placement of thumb, Downturned corners of mouth, Abnormal sternum morphology, Short phil... OMIM:616737
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... OMIM:300998
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Down-sloping shoulders, A... ORPHA:1390
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Cataract, Right ventricular dilatation, Myopathy, Restrictive ventilatory defect, Limb-girdle mus... ORPHA:369847
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... OMIM:620135
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c... OMIM:610978
Boudin-Mortier Syndrome
Aortic root aneurysm OMIM:619543
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo... ORPHA:2631
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Downturned corners of mouth, Micr... OMIM:615162
Acrofacial Dysostosis, Catania Type
Hypospadias, Single transverse palmar crease, Carious teeth, Cryptorchidism, Short palm, Spina bi... OMIM:101805
Squalene Synthase Deficiency
Bicuspid aortic valve, Optic nerve hypoplasia, Hypospadias, Micrognathia, Bilateral cryptorchidis... OMIM:618156
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Microtia, Everted lower lip vermi... ORPHA:357175
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cataract, Hyperlordosis, Right ventricular dilatation, Myopathy, Restrictive ventilatory defect, ... ORPHA:369840
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Tented upper lip vermilion, Ectopic pancreatic tissue, Singl... OMIM:229850
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Single transverse palmar crease, Protruding ear, Downturned corners of mou... ORPHA:329224
Loeys-Dietz Syndrome 6
Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dilatation of the cerebral a... OMIM:619656
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... ORPHA:791
Kabuki Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Hemivertebrae, Abnormal form of the vertebr... ORPHA:2322
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Cataract, Abnormal chorioretinal morphology, Proteinuria, Ma... ORPHA:225
Nail-Patella Syndrome
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Patellar... OMIM:161200
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Decreased... OMIM:616652
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Sandal gap, Micrognathia, Lens coloboma, Cupped ear, 2-3 toe syndactyly, R... OMIM:618914
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Microcornea, Iris coloboma, Long hallux, Abnor... ORPHA:2308
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasi... OMIM:600001
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glo... OMIM:117650
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat... ORPHA:95699
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Hypospadias, Camptodactyly of finger, Abnormal pulmonary valve morphology, Abno... ORPHA:1194
Fanconi Anemia, Complementation Group Q
Absent thumb, Esophageal atresia, Primum atrial septal defect, Anteriorly placed anus, Bone marro... OMIM:615272
Zaki Syndrome
Sacral dimple, Toe syndactyly, Renal agenesis, Congenital diaphragmatic hernia, Micrognathia, Lon... OMIM:619648
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Bloody diarrhea OMIM:614328
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensibility of the finger joints, Poor wound healing, Ectopia lentis, Pectus excavatum, Fr... OMIM:130000
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Pos... OMIM:614815
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Skeletal muscle atrophy, Rocker bottom foot, Lower limb mu... ORPHA:1143
8P Inverted Duplication/Deletion Syndrome
Micrognathia, Short neck, High, narrow palate, Aplasia/Hypoplasia of the gallbladder, Clinodactyl... ORPHA:96092
Fallot Complex With Severe Mental And Growth Retardation
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle,... OMIM:601127
Rhizomelic Chondrodysplasia Punctata
Cataract, Rhizomelia, Abnormality of the dentition, Epiphyseal stippling, Abnormal epiphysis morp... ORPHA:177
Double Outlet Right Ventricle
Hypoparathyroidism, Failure to thrive, Cyanosis, Ventricular septal defect, Intestinal malrotatio... ORPHA:3426
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Camptodactyly of finger, Hearing impairment, Tracheomalacia, Atelecta... ORPHA:896
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Cataract, Cutis marmorata, Abnormal pulmonary va... ORPHA:974
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric... ORPHA:392
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Single transverse palmar crease, Micrognathia, Biliary hyperplasia, Micrope... ORPHA:83617
Fontaine Progeroid Syndrome
Mandibular prognathia, Small scrotum, Bicuspid aortic valve, Micrognathia, High, narrow palate, H... OMIM:612289
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Mosaic Trisomy 16
Single transverse palmar crease, Maternal diabetes, Abnormal lung morphology, Anteriorly placed a... ORPHA:1708
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Short neck, Obesity, Decreased fertility, Mitral valve prolapse, Hyp... ORPHA:2233
Seckel Syndrome 4
11 pairs of ribs, Severe failure to thrive, Low-set ears, Decreased body weight, Steep acetabular... OMIM:613676
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Cyanosis, Posta... OMIM:619879
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Hypospadias, Abnormality of the philtrum, Abnorm... ORPHA:276422
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Hyperlordosis, Flexion contrac... OMIM:253700
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Abnormal pinna morphology, Short neck, Pectus excavatum, Patent ductus... ORPHA:52055
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Dental crowding, Micrognathia, Abnormal curvature of the vertebral column,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Dental crowding, Micrognathia, Abnormal curvature of the vertebral column,... ORPHA:353277
Prader-Willi Syndrome Due To Translocation
Respiratory distress, External genital hypoplasia, Decreased response to growth hormone stimulati... ORPHA:177907
Floating-Harbor Syndrome
Short neck, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Olig... ORPHA:2044
Renpenning Syndrome
Mandibular prognathia, Skeletal muscle atrophy, High, narrow palate, Short philtrum, Clinodactyly... ORPHA:3242
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Dental crowding, Proximal placement of thumb, Micromelia, Micrognat... OMIM:270400
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Micromelia, Coxa vara, Hypoplastic iliac wing, Clinodactyl... ORPHA:2637
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respir... OMIM:619170
Schinzel-Giedion Syndrome
Respiratory distress, Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the ... ORPHA:798
Cardiac-Urogenital Syndrome
Bifid scrotum, Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal d... OMIM:618280
Prieto Syndrome
11 pairs of ribs, Coxa valga, Abnormality of the dentition, Cryptorchidism, Talipes equinovarus, ... OMIM:309610
Stickler Syndrome, Type I
Micrognathia, Conductive hearing impairment, Bifid uvula, Arachnodactyly, Scoliosis, Beaking of v... OMIM:108300
Mucopolysaccharidosis Type 4
Short neck, Pectus carinatum, Abnormal dental enamel morphology, Hyperlordosis, Short thorax, Abn... ORPHA:582
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Equinus calcaneus, Micrognathia, Prominent veins on trunk, Shoulder dislocati... ORPHA:536532
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Patent ductus arteriosus, Postaxial hand polydactyly, Chorioretinal atrophy, H... OMIM:220220
Classical Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Rectal prolapse, Shoulder dislocation, Ecchymosis, Ac... ORPHA:287
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Hyperlordosis, Spinal rigidity, Nemaline bodies, Respiratory insufficiency due to m... OMIM:161800
8P11.2 Deletion Syndrome
Hypoplasia of penis, Sacral dimple, Retinal dystrophy, Hypogonadotropic hypogonadism, Micrognathi... ORPHA:251066
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... ORPHA:193
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Widel... ORPHA:268261
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Aplasia of the bladder, High palate... OMIM:200980
Cornelia De Lange Syndrome 5
Proximal placement of thumb, Micrognathia, Short neck, Downturned corners of mouth, High palate, ... OMIM:300882
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Downturned corners of mouth, Coloboma, Vertebral segmentation defect, Olig... ORPHA:453499
Loeys-Dietz Syndrome 5
Decreased muscle mass, Tented upper lip vermilion, Pectus carinatum, High palate, Bilateral coxa ... OMIM:615582
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, High palate, Finger joint hy... ORPHA:506358
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Bronchiectasis, Decreased nasal nitric oxide, Cough,... OMIM:618254
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Renal... OMIM:618454
Tetrasomy 15Q26
Microretrognathia, Arachnodactyly, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic a... OMIM:614846
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Ventricular septal defect, Micr... ORPHA:2772
Bohring-Opitz Syndrome
Micrognathia, Flexion contracture, Abnormal optic nerve morphology, Vesicoureteral reflux, Atrial... OMIM:605039
Sifrim-Hitz-Weiss Syndrome
Anteriorly placed anus, Vesicoureteral reflux, Atrial septal defect, Micropenis, Bifid uvula, Hyp... OMIM:617159
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Short neck, Metaphyseal widening, Flexion contracture, Pectus carinatum, Ch... OMIM:617303
Weaver Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodact... ORPHA:3447
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Single transverse palmar crease, Posteriorly rotated ears, Patent duct... OMIM:619717
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Toe syndactyly, Ventricular septal defect, Exaggerated cupid's... ORPHA:261120
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363958
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers... OMIM:227270
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Posteriorly rotated ears, Micrognathia, Short neck, High, narrow palate, Super... ORPHA:1787
Stickler Syndrome Type 1
Retinal detachment, Cataract, Hypoplasia of the maxilla, Sensorineural hearing impairment, Abnorm... ORPHA:90653
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Micrognathia, Flexion contracture, Glossoptosis, High palate, Facial pal... OMIM:254940
Tricuspid Atresia
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist... ORPHA:1209
10Q22.3Q23.3 Microdeletion Syndrome
Microretrognathia, Curved middle phalanx of the 4th toe, Intestinal polyposis, Arachnodactyly, Pa... ORPHA:276413
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Gapo Syndrome
Keratoconus, Prominent scalp veins, Facial palsy, Micrognathia, Retinal arteriolar tortuosity, Wi... OMIM:230740
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Death in infancy, Respiratory distress, Hypospadias, Unilateral cryptorchidism, Ce... OMIM:300219
Cardiofaciocutaneous Syndrome
Short neck, High palate, Thickened helices, Atrial septal defect, Low-set, posteriorly rotated ea... ORPHA:1340
Cog1-Cdg
Irregularity of vertebral bodies, Micrognathia, Short neck, Vertebral segmentation defect, High p... ORPHA:263508
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Short neck, Hypertrophy of the urinary bladder, Large fleshy ears, Hi... ORPHA:280633
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, A... OMIM:616914
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Hyperlordosis, Microdontia, Abnormality of the dentition, Sensorineural he... ORPHA:557003
Distal Deletion 19P
Long toe, Low-set, posteriorly rotated ears, Vaginal hernia, Arachnodactyly, Ventricular septal d... ORPHA:96129
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Shor... ORPHA:2983
Distal Deletion 12Q
Single transverse palmar crease, Micrognathia, Ectopic kidney, High, narrow palate, Short neck, A... ORPHA:96149
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Renal cyst, Protruding ear, Micropenis, Pelvic kidney, Abnormality of the cervical spine, Hypospa... ORPHA:464311
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis, Left atrial enlargement, Dyspnea, Tachypnea, Abnormal... ORPHA:99106
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... OMIM:249710
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Congenital hip dislocation, Hearing abnormality, Patent ductus arte... ORPHA:2412
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Dilation of Virchow-Robin spaces, Posteriorly rotated... OMIM:617190
Fg Syndrome Type 1
Dental crowding, Single transverse palmar crease, Micrognathia, Abnormal sternum morphology, Fuse... ORPHA:93932
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Wide anterior fontanel, Prea... ORPHA:3098
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Failure to thrive, Cataract, Rhizomelia, Optic nerve hypoplasia, Micrognathia, Sub... OMIM:222765
Keratoconus Posticus Circumscriptus
Keratoconus, Limited elbow extension and supination, Recurrent urinary tract infections, Short ne... OMIM:244600
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Autosomal Dominant Spondylocostal Dysostosis
Recurrent respiratory infections, Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morpho... ORPHA:1797
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Dental crowding, Short neck, High palate, Clinodactyly of the 5th fin... OMIM:612582
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, Intra... ORPHA:740
Cap Myopathy
Aortic root aneurysm ORPHA:171881
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorc... OMIM:300200
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Short neck, Hemivertebrae, Contracture of ... OMIM:618223
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Hyperlordosis, Cryptorchidism, Sensorineural hearing impairment, Arterial stenosis, ... ORPHA:1192
Cardiac-Valvular Ehlers-Danlos Syndrome
Dental crowding, Calcaneovalgus deformity, Absent phalangeal crease, High palate, Atrial septal d... ORPHA:230851
Frontonasal Dysplasia 1
Cataract, Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic fr... OMIM:136760
Farber Disease
Respiratory distress, Skeletal muscle atrophy, Nodular pattern on pulmonary HRCT, Flexion contrac... ORPHA:333
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Maternal diabetes, Orofacial cleft, Triphalangeal thumb, Conduct... ORPHA:2549
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm OMIM:301039
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Reduced subcutaneous adipose tissue, Decreased response to growth hormone ... ORPHA:3455
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Downturned corners of mouth, High palate, Triphalangeal thumb, Clinodactyly of the 5th finger, At... OMIM:220500
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Protruding ear, Clinodact... ORPHA:464306
Gm1 Gangliosidosis
Mandibular prognathia, Abnormal form of the vertebral bodies, Aspiration pneumonia, Cherry red sp... ORPHA:354
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Cryptorchidism,... ORPHA:500159
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Periodontitis, Finger joint hypermobility, Uterine rupture, Ec... OMIM:130050
Marden-Walker Syndrome
Decreased muscle mass, Micrognathia, Short neck, High, narrow palate, Abnormal sternum morphology... OMIM:248700
Marden-Walker Syndrome
Skeletal muscle atrophy, Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Pectus ... ORPHA:2461
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Tented upper lip vermilion, Micrognathia, Renal cyst, Bilateral superior ve... OMIM:618460
Osteogenesis Imperfecta
Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morpholo... ORPHA:666
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Proximal placement of thumb, Micrognathia, High, ... ORPHA:435638
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Thin upper lip vermilion, Ventricular septal defect, Thyroid lymphangiectasia, ... OMIM:235255
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar... ORPHA:228190
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, High palate, Clino... OMIM:617602
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Micr... ORPHA:166272
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Sensorineural hearing impairment, Optic disc drusen, Pigme... OMIM:204000
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ... ORPHA:3268
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Irregularity of vertebral bodies, Abnormal tricuspid valve morpholog... ORPHA:580
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Microcornea, High pala... OMIM:244450
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Cataract, Spina bifida, Preaxial polydactyly, Scoliosis, Spina... ORPHA:64754
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Kabuki Syndrome 2
Micrognathia, Protruding ear, High palate, Prominent fingertip pads, Atrial septal defect, Atriov... OMIM:300867
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Micrognathia, Ectopic kidney, High, narrow palate, Short neck, Dermatoglyp... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Micrognathia, Ectopic kidney, High, narrow palate, Short neck, Dermatoglyp... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Micrognathia, Ectopic kidney, High, narrow palate, Short neck, Dermatoglyp... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Micrognathia, Ectopic kidney, High, narrow palate, Short neck, Dermatoglyp... ORPHA:881
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Single transverse palmar crease, Micrognathia, High palate, Arachnod... OMIM:618348
Wolfram Syndrome 1
Neurogenic bladder, Cataract, Hydroureter, Diabetes mellitus, Diabetes insipidus, Hypothyroidism,... OMIM:222300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Congenital diaphragmatic hernia, Micrognathia, Large for gestational age, L... OMIM:614080
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, C... OMIM:619149
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati... OMIM:609053
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Neuraminidase Deficiency
Skeletal muscle atrophy, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria,... OMIM:256550
Lambotte Syndrome
Ventricular septal defect, Retrognathia, Atresia of the external auditory canal, Narrow mouth, Pr... OMIM:245552
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Apnea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate,... ORPHA:2462
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... OMIM:619503
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Hypogonadism, High palate, Narrow mouth, Retrognathia ORPHA:2528
Trichothiodystrophy
Multiple joint contractures, High, narrow palate, Protruding ear, Microcornea, Macular degenerati... ORPHA:33364
Diamond-Blackfan Anemia
Radial artery aplasia, Micrognathia, Short neck, High palate, Triphalangeal thumb, Adenocarcinoma... ORPHA:124
Skraban-Deardorff Syndrome
Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Right aortic arch, Wid... OMIM:617616
Peroxisome Biogenesis Disorder 5A (Zellweger)
Single transverse palmar crease, Micrognathia, Renal cyst, High palate, Atrial septal defect, Dea... OMIM:614866
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... ORPHA:363705
Congenital Disorder Of Glycosylation, Type Ie
Short palm, Smooth philtrum, Respiratory distress, Ankle flexion contracture, Micrognathia, High,... OMIM:608799
Atelis Syndrome 2
Sacral dimple, Remnants of the hyaloid vascular system, Single transverse palmar crease, Microgna... OMIM:620185
Tetrasomy 9P
Myositis, Glue ear, Dental crowding, Micrognathia, Short neck, Downturned corners of mouth, High ... ORPHA:3310
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, External genital hypoplasia, Proximal placement of thumb, Absent t... OMIM:613390
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Ankle flexion c... OMIM:617468
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... ORPHA:246
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Dilation of Virchow-Robin spaces, Tapered toe, Tapered finger, Celiac disease, Bil... ORPHA:544488
Shprintzen-Goldberg Craniosynostosis Syndrome
Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Metaphyseal widening, Pectus cari... OMIM:182212
Toriello-Carey Syndrome
Micrognathia, Short neck, Anteriorly placed anus, Anotia, High palate, Narrow chest, Thickened he... ORPHA:3338
Spinocerebellar Ataxia, Autosomal Recessive 31
Pectus excavatum, Optic atrophy, Gingival overgrowth, High palate, Bilateral sensorineural hearin... OMIM:619422
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... OMIM:604381
Maternal Phenylketonuria
Ventricular septal defect, Bifid distal phalanx of the thumb, Micrognathia, Esophageal atresia, C... ORPHA:2209
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Tethered cord, Mitral atresia, Patent ductus arteriosus, Clinodact... OMIM:618164
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Cataract, Ventricular septal defect, Jaundice, Epiphyseal stippling, Glossoptosis OMIM:614876
20Q13.33 Microdeletion Syndrome
Hallux valgus, Low-set, posteriorly rotated ears, Sacral dimple, Dilation of Virchow-Robin spaces... ORPHA:261311
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Posteriorly rotated ea... ORPHA:284169
Noonan Syndrome 13
Micrognathia, Short neck, Enlarged thorax, High palate, Widely spaced teeth, Microdontia, Atrial ... OMIM:619087
Myhre Syndrome
Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Short ... ORPHA:2588
Genitopatellar Syndrome
Small scrotum, Apnea, Hypoplastic ischia, Micrognathia, Knee flexion contracture, Short palm, Atr... ORPHA:85201
Becker Nevus Syndrome
Micromelia, Supernumerary nipple, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Hypoplas... ORPHA:64755
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... OMIM:101200
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Microphthalmia, Lenz Type
Abnormal clavicle morphology, Orofacial cleft, Abnormal shoulder morphology, Microcornea, Long th... ORPHA:568
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive, Hypospadias, Micrognathia, Wide mouth, Widely spaced tee... OMIM:300934
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Apnea, Cardiomegaly, Increased muscle lipid content, Knee flexion contractu... OMIM:608836
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... ORPHA:3104
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Postaxial polyd... OMIM:617895
Silver-Russell Syndrome 3
Syndactyly, Ambiguous genitalia, Unilateral cryptorchidism, Elbow contracture, Small for gestatio... OMIM:616489
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... OMIM:139210
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Thoracic scoliosis, Apnea, External ge... ORPHA:79330
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Recurrent urinary tract infections, Ventricular septal defect, Hypospadias... OMIM:619103
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Clinod... OMIM:200990
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, High, narrow palate, Abnormal pupil morphology, Abnormality of the gi... ORPHA:286
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Kyphoscoliosis, Patent ductus arteriosus, Hip dislocation, Buphthalmos, Nephro... OMIM:618005
Atrial Septal Defect, Sinus Venosus Type
Dyspnea, Anomalous pulmonary venous return, Airway obstruction, Right ventricular dilatation, Str... ORPHA:99105
Periventricular Nodular Heterotopia 7
Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n... OMIM:617201
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp... OMIM:208500
Ehlers-Danlos Syndrome, Classic-Like, 2
Thoracic scoliosis, Micrognathia, Short neck, Shoulder dislocation, High palate, Prematurely aged... OMIM:618000
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short n... ORPHA:583
Radio-Tartaglia Syndrome
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Hearing impairment, Microgn... OMIM:619312
Vacterl/Vater Association
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphol... ORPHA:887
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downtu... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downtu... ORPHA:352665
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Aortopulmonary collateral arteries, Facial hypotonia, Micrognathia, Po... OMIM:617557
Kapur-Toriello Syndrome
Single transverse palmar crease, Short neck, Conductive hearing impairment, Atrial septal defect,... OMIM:244300
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Orofacial cleft, Vesicoureteral reflux, Conductive hearing impairment, ... ORPHA:2363
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Micrognathia, Conical tooth, Supernumerary vertebrae, Conductive hear... OMIM:263750
Cousin Syndrome
Micrognathia, Short neck, Ambiguous genitalia, female, Prominent protruding coccyx, Microcornea, ... OMIM:260660
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Short metatarsal, High palate, Thickened helices, Broad ribs, Broad me... OMIM:608328
Atrial Fibrillation, Familial, 10
Right ventricular dilatation, Left ventricular hypertrophy, Stroke, Left atrial enlargement OMIM:614022
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Sacral dimple, Cataract, Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Wide... OMIM:608227
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Degcags Syndrome
Micrognathia, Bilateral renal hypoplasia, Premature graying of hair, High palate, Atrial septal d... OMIM:619488
Esophageal Atresia
Respiratory distress, Bronchitis, Maternal diabetes, Laryngotracheomalacia, Abnormality of the ea... ORPHA:1199
Hyperlysinemia
Argininuria, Recurrent pneumonia, Cystinuria, Pulmonary artery hypoplasia, Hyperlysinuria, High p... ORPHA:2203
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Mic... ORPHA:1703
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,... ORPHA:444077
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Sh... ORPHA:466791
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Uplifted earlo... ORPHA:261552
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis OMIM:614602
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Congenital Myopathy 19
Skeletal muscle atrophy, Facial hypotonia, Posteriorly rotated ears, Micrognathia, Respiratory in... OMIM:618578
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, External genital hypoplasia, Patent ductus arteriosus, Ha... OMIM:249670
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Ulnar deviation of the hand, Corneal opacity, Proteinuria, Congenital diaphr... OMIM:166300
Opitz Gbbb Syndrome
Bifid scrotum, Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, High... ORPHA:2745
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, ... OMIM:619148
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hydronephrosi... ORPHA:195
Chromosome 5Q12 Deletion Syndrome
Long toe, Sacral dimple, Ventricular septal defect, Posteriorly rotated ears, Micrognathia, Short... OMIM:615668
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Bronchogenic Cyst
Back pain, Abnormality of the cervical spine, Abnormal pulmonary thoracic imaging finding, Pulmon... ORPHA:2357
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, ... ORPHA:1597
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Thin upper lip vermilion, Congenital hip dislocation, Ventricula... ORPHA:457279
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Oligodontia, Clinodactyly of the 5th finger, Megalocornea, Taper... ORPHA:1272
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Narrow chest, Atrial se... ORPHA:289
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Dental crowding, Micrognathia, Cleft hard palate, Short neck, Nephrocalcinosis, Conductive hearin... OMIM:300990
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Oligosacchariduria, Downturned corners of mouth, Thoracic kyphosis, Nar... ORPHA:163649
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Odontochondrodysplasia 1
Respiratory distress, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronop... OMIM:184260
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Central apnea, Toe syndactyly, Cataract, Camptodactyly of fing... ORPHA:1617
Noonan Syndrome 3
Ventricular septal defect, Thickened helices, Posteriorly rotated ears, Pectus excavatum, Cryptor... OMIM:609942
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Hearing impairment, P... ORPHA:2701
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... OMIM:113000
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Proximal placement of thumb, Short neck, Thoracolumbar kyphoscoliosis, Dia... OMIM:212066
Thanatophoric Dysplasia Type 1
Micromelia, Femoral bowing, Narrow chest, Atrial septal defect, Abnormality of the kidney, Wide a... ORPHA:1860
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Abnormal sperm morphology, Decreased testicular size... ORPHA:320391
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Pectus carinatum, Abnormal sternum morphology,... OMIM:613795
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Respiratory distress, Abnormal retinal morphology, Rocker bottom foot, Low-set... ORPHA:89844
Meier-Gorlin Syndrome 1
Respiratory distress, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoi... OMIM:224690
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... OMIM:615237
Perching Syndrome
Respiratory distress, Cyanosis, High palate, Scoliosis, Camptodactyly, Joint contracture, Rod-con... OMIM:617055
Tonne-Kalscheuer Syndrome
Decreased testicular size, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Cryptorchi... OMIM:300978
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Glue ear, Cutis marmorata, Absence of renal corticomedullary di... OMIM:619758
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Pelvis-Shoulder Dysplasia
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... OMIM:169550
Ogden Syndrome
Microretrognathia, Torticollis, Everted upper lip vermilion, Broad hallux, Ventricular septal def... ORPHA:276432
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo... OMIM:610759
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Micrognathia, Respiratory insufficiency due to muscle weaknes... OMIM:300580
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Pectus carinatu... OMIM:115150
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Micrognathia, High, narrow palate, Microcornea, Abnormal optic nerve morpho... ORPHA:2707
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Right ventricular dilatation, Agammaglobulinemia, Decreased circulating total IgM... OMIM:619705
Desmosterolosis
Low-set, posteriorly rotated ears, Failure to thrive, Renal agenesis, Intestinal malrotation, Mic... ORPHA:35107
Cohen Syndrome
Bone spicule pigmentation of the retina, Thoracic scoliosis, Bull's eye maculopathy, Single trans... OMIM:216550
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Single transverse palmar crease, Secundum atrial septal defect, Oral ulcer, Pectus carinatum, Hig... OMIM:612541
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst, Pectu... OMIM:312870
Diastrophic Dysplasia
Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangis... ORPHA:628
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Overriding aorta, Carious teeth, Abnorm... ORPHA:1110
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Precocious puberty, Cleft palate, Scoliosis, Decreased body weight, Dysplastic p... OMIM:300958
Schaaf-Yang Syndrome
Mandibular prognathia, Flexion contracture, Micropenis, Tapered finger, Cryptorchidism, Obesity, ... OMIM:615547
Kniest Dysplasia
Respiratory distress, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Cond... OMIM:156550
Sweeney-Cox Syndrome
Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, High palate, Narrow chest, Short philtr... OMIM:617746
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Ventricular septal defect, Abnormal fallopian tube morphology, Microgna... ORPHA:1655
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral e... OMIM:271640
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Uplifted earlo... ORPHA:261537
Cornelia De Lange Syndrome
Hypoplasia of penis, Proximal placement of thumb, Micromelia, Micrognathia, Congenital diaphragma... ORPHA:199
Hurler Syndrome
Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal nerve conduction v... ORPHA:93473
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Autoinflammation With Infantile Enterocolitis
Episodic vomiting, Villous atrophy, Secretory diarrhea, Enterocolitis OMIM:616050
Intellectual Developmental Disorder, Autosomal Dominant 21
Sacral dimple, Posteriorly rotated ears, Single transverse palmar crease, Cryptorchidism, Patent ... OMIM:615502
Aicardi Syndrome
Proximal placement of thumb, Chorioretinal lacunae, Hemivertebrae, Prominence of the premaxilla, ... OMIM:304050
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Conductive hearing impairment, Atrial se... OMIM:600373
Mowat-Wilson Syndrome
Mandibular prognathia, Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Uplifted earlo... ORPHA:2152
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Posteriorly rotated ears, Micrognathia, Short neck, Dyspnea, Gingival fibro... ORPHA:1832
Cutis Laxa, Autosomal Recessive, Type Iid
Reduced subcutaneous adipose tissue, Failure to thrive, Cataract, Hypoplastic right heart, Kyphos... OMIM:617403
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Aortic root aneurysm ORPHA:404443
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Steatorrhea OMIM:602579
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Micrognathia, Short neck, Renal cyst, Abnormal form of the verte... ORPHA:1834
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Hydronephrosis, Parti... ORPHA:2669
Noonan Syndrome 2
Micrognathia, Short neck, Pectus carinatum, Abnormal sternum morphology, High palate, Atrial sept... OMIM:605275
Peho-Like Syndrome
Open mouth, Retrognathia, Optic atrophy, Tapered finger OMIM:617507
Rhizomelic Syndrome
Rhizomelia, Bifid distal phalanx of the thumb, Micrognathia, Wide anterior fontanel, Hip dislocat... OMIM:268250
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Arachnodactyly, Ventricular septal defect, Proteinuria, Micrognathia... OMIM:616730
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusori... OMIM:620294
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Single transverse palmar crease, Micrognathia, Aminoaciduria, Hypoplasia of the thymus, De... OMIM:214110
Fetal Minoxidil Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Cryptorchidism, Clino... ORPHA:1918
Nemaline Myopathy 9
Ventricular septal defect, Micrognathia, Cleft palate, Respiratory insufficiency, High palate, Na... OMIM:615731
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Patent ductus arterio... ORPHA:2306
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Pectus carinat... ORPHA:3079
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract... ORPHA:365
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Dextrocardia, Supernumerary nipple, Cryptorch... OMIM:618929
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... OMIM:613091
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Hearing impairment, Short neck, Spina... ORPHA:2345
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature, Cryptorchidism... ORPHA:85323
Lateral Meningocele Syndrome
Decreased muscle mass, Bicuspid aortic valve, Dental crowding, Micrognathia, Short neck, High pal... OMIM:130720
Ck Syndrome
Posteriorly rotated ears, Dental crowding, Slender build, Micrognathia, Hyperlordosis, Kyphosis, ... OMIM:300831
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Uplifted earlobe, Tapered finger, Optic atrophy, Protruding ear, Prominent ant... OMIM:615722
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Short neck, Microdontia, Nephropathy, Nephrotic range proteinuria, Lumb... ORPHA:1830
Moebius Syndrome
Respiratory distress, Micrognathia, Short neck, Congenital fibrosis of extraocular muscles, High ... OMIM:157900
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Short neck, Abnormality of the endocrine system, Cryptorchidism, Sensori... ORPHA:464288
Developmental Delay, Language Impairment, And Ocular Abnormalities
Tethered cord, Myopic astigmatism, Myelomeningocele, Developmental cataract, Pulmonic stenosis, S... OMIM:620141
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Cardiomegaly, Flexion contracture, Abnormal form of the vertebral b... ORPHA:581
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Hearing impairment, Pulmonary artery... ORPHA:85202
Bohring-Opitz Syndrome
Apnea, Cardiomegaly, Micrognathia, Coloboma, Congenital contracture, Prominent palatine ridges, L... ORPHA:97297
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... ORPHA:1350
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Thoracic scoliosis, Decreased muscle mass, High, narrow palate, Microcornea, Wrist drop, Muscle f... ORPHA:1900
Mosaic Trisomy 8
Micrognathia, Short neck, Protruding ear, Vertebral segmentation defect, High palate, Narrow ches... ORPHA:96061
Relapsing Polychondritis
Large vessel vasculitis, Uveitis, Anteriorly placed anus, Conjunctivitis, Cough, Glomerulopathy, ... ORPHA:728
Mosaic Variegated Aneuploidy Syndrome
Apnea, Micrognathia, Abnormal lung lobation, Holoprosencephaly, Clinodactyly of the 5th finger, A... ORPHA:1052
Bone Dysplasia, Lethal Holmgren Type
Micromelia, Short neck, Abnormal femur morphology, Narrow chest, Atrial septal defect, Rhizomelia... ORPHA:1842
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Abnormal vertebral morphology, Dextrocardia, Proximal placement of ... OMIM:314390
Schuurs-Hoeijmakers Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Cryptorchidism, Patent ductus arterios... OMIM:615009
Intellectual Developmental Disorder, X-Linked 104
Abnormal pinna morphology, High palate, Retrognathia, Optic atrophy OMIM:300983
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Abnormal vestibular function, Ventricular septal defect, Sensorineural hearing impairment, Tetral... OMIM:617992
Fabry Disease
Conjunctival telangiectasia, Corneal dystrophy, Abnormal femur morphology, Nephropathy, Emphysema... ORPHA:324
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Bilateral sing... OMIM:619657
Oculodentodigital Dysplasia
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormality of the ear, Abnorm... ORPHA:2710
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguo... ORPHA:1772
Williams-Beuren Region Duplication Syndrome
Cutis marmorata, Small for gestational age, Unilateral renal agenesis, Micrognathia, Diastema, Cr... OMIM:609757
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Failure to thrive, Abnormal co... ORPHA:3427
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... OMIM:206920
Myopathy, Centronuclear, 5
Hip contracture, Micrognathia, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy... OMIM:615959
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Short neck, Pectus carinatum, Downturned corners of mouth, ... ORPHA:955
Aicardi Syndrome
Protruding ear, Short philtrum, Chorioretinal coloboma, Intestinal polyposis, Prominence of the p... ORPHA:50
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of the 5th finger, M... OMIM:210720
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Spina bifida occulta, Micrognathia ORPHA:1514
7Q31 Microdeletion Syndrome
Prominent fingertip pads, Skeletal muscle atrophy, Torticollis, Recurrent respiratory infections,... ORPHA:251061
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Hypospadias, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus... OMIM:600460
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Prominent superficial veins, Telangiectasia of the skin, A... ORPHA:75508
Premature Aging Syndrome, Penttinen Type
Micrognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-stimulating hormone concent... OMIM:601812
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Dyspnea, Pulmonary arterial hypertension ORPHA:422
Chromosome 2P16.1-P15 Deletion Syndrome
High, narrow palate, Calcaneovalgus deformity, High palate, Micropenis, Arachnodactyly, Cryptorch... OMIM:612513
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Single transverse palmar crease, Micromelia, Finger joint hypermobility, Atrial septal defect, Pa... OMIM:618870
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Short neck, Deep philtrum, Pectus carinatum, High palate, Widely spaced teeth, Thickened helices,... OMIM:617506
Tetrasomy 5P
Respiratory distress, Micrognathia, Short neck, High palate, Clinodactyly of the 5th finger, Shor... ORPHA:3309
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Cataract, Overlapping toe, Short neck, Pectus excavatum, Cleft lip, Deep philt... OMIM:618571
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Tachypnea, Methylmalonic aciduria, Coarct... OMIM:614857
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Optic atrophy, Cardiomyopathy, Myopathy, Ethylmalonic aciduria, Increased l... ORPHA:26792
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Tented upper lip vermilion, Overlapping t... OMIM:619383
Cranioectodermal Dysplasia 2
Micrognathia, Short neck, Renal cyst, Ectodermal dysplasia, Fused teeth, High palate, Narrow ches... OMIM:613610
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Situs inversus totalis, Absent outer dynein arms,... OMIM:618300
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Tented upper lip vermilion, Decreased response to... ORPHA:488632
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Increased urine succinate level, ... OMIM:606812
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Postax... OMIM:619143
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Male infertility, Pneumonia, Situs inversus totalis, Absent frontal ... OMIM:244400
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Recurrent respiratory infections, Short metacarpal, Thoracolumbar ky... OMIM:618853
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velo... OMIM:614399
Ulnar-Mammary Syndrome
Abnormal clavicle morphology, Hypoplasia of penis, Aplasia of the pectoralis major muscle, Abnorm... ORPHA:3138
Congenital Gerbode Defect
Ventricular septal defect, Crackles, Dyspnea, Right atrial enlargement, Pulmonary arterial hypert... ORPHA:99095
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Hypospadias, Micrognathia, Cryptorc... ORPHA:494344
3Mc Syndrome
Abnormal pinna morphology, Diastasis recti, Hearing impairment, Hyperlordosis, Bilateral cryptorc... ORPHA:293843
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Developmental cataract, Micropenis, Clubbing of fingers, Ging... ORPHA:335
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific... OMIM:210710
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-... ORPHA:79126
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Flexion contracture, Downturned corners ... ORPHA:487796
Cednik Syndrome
Proteinuria, Abnormality of the dentition, Diffuse palmoplantar hyperkeratosis, Sensorineural hea... ORPHA:66631
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, External genital hypoplasia, Pneumonia, Tapered finger, Cryptorchidism... ORPHA:1867
Brachydactyly Type A1
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... ORPHA:93388
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Short neck, Flexion contracture, Pectus carinatum, Conjunctivitis, Thoracic... ORPHA:505248
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Ventricular septal defec... ORPHA:1458
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebra... OMIM:108720
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Micrognathia, Short neck, Renal cyst, Atrial septal defect, Micropenis, Multicysti... OMIM:257300
C Syndrome
Micromelia, Micrognathia, High palate, Thick anterior alveolar ridges, Dislocated radial head, Sh... OMIM:211750
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Down... OMIM:136140
Ulnar-Mammary Syndrome
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... OMIM:181450
Li-Campeau Syndrome
Ventricular septal defect, Single transverse palmar crease, Cryptorchidism, Patent ductus arterio... OMIM:619189
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Bicuspid aortic valve, Sandal gap, Micrognathia, Cleft soft palate, Posteriorly rot... OMIM:618529
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Abnormal anterior chamber morp... ORPHA:93323
Isolated Atp Synthase Deficiency
Respiratory distress, Cataract, Sensorineural hearing impairment, Dilated cardiomyopathy, Optic a... ORPHA:254913
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Anteriorly placed anus... ORPHA:1225
Arthrogryposis, Distal, Type 1A
Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi... OMIM:108120
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Arteria lusoria, Anisocoria, Anteriorly placed anus, High palate, Vesicoureteral reflux, Micropen... OMIM:618653
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Cardiomegaly, Micrognathia, Short neck, Femoral bowing, High palate, Narrow c... OMIM:617022
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Short neck, Secundum atrial septal defect, Met... ORPHA:99646
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cle... ORPHA:3434
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut... ORPHA:857
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Cleft soft palate, Micrognathia, Esophageal atresia, Peters anomaly, Atrial sep... OMIM:614526
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Deviation of finger, Round ear, Hydronephrosis, Abnormal palate morpho... ORPHA:1450
Mietens Syndrome
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Metatarsus adductus,... ORPHA:2557
Noonan Syndrome
Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Abnormal pulmonary valve morpho... ORPHA:648
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Otitis media, Rod-cone dystrophy, Chronic sinusitis, Recurrent bronchitis, High-freq... OMIM:300455
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... OMIM:604393
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Tented upper lip vermilion, Micrognathia, High, narrow palate, Abnormal lung lobation, Renal cyst... ORPHA:369837
Weill-Marchesani Syndrome 1
Cataract, Ventricular septal defect, Lumbar hyperlordosis, Ectopia lentis, Hypoplasia of the maxi... OMIM:277600
Ramos-Arroyo Syndrome
Respiratory distress, Decreased body weight, Aganglionic megacolon, Keratitis, Absent retinal pig... ORPHA:1051
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Short neck, Large for gestational age, Metaphyseal widening,... OMIM:239850
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Cataract, Abnormal intervertebral disk morphology, Camptodacty... ORPHA:2635
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Macdermot-Winter Syndrome
Death in infancy, Posteriorly rotated ears, Camptodactyly of finger, Hypoplastic male external ge... OMIM:247990
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm OMIM:145420
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Bifid uvula OMIM:601110
Seckel Syndrome 5
11 pairs of ribs, Hypospadias, Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft pala... OMIM:613823
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Bowing of the legs, Micrognathia, Short neck, Flexion contracture, Narrow chest, Pter... ORPHA:1865
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Crisponi/Cold-Induced Sweating Syndrome 1
Micrognathia, Short neck, High palate, Short palm, Facial palsy, Tapered finger, Low-set ears, Na... OMIM:272430
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Apnea, Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum... ORPHA:800
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Prominent fingertip pads, Bicuspid aortic valve, Arachnodactyly, Postaxial... OMIM:619721
White-Sutton Syndrome
Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Short neck, Downturned corn... OMIM:616364
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Con... ORPHA:373
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Coffin-Siris Syndrome 4
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... OMIM:614609
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Recurrent shoulder dislocation, Down-sloping shoulders, Poor woun... OMIM:212112
Acrorenal Syndrome
Renal insufficiency, Abnormal morphology of ulna, Micrognathia, Renal hypoplasia/aplasia, Abnorma... ORPHA:971
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... ORPHA:175
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Perlman Syndrome
Hypoplasia of penis, Posteriorly rotated ears, Nephroblastoma, Micrognathia, High, narrow palate,... ORPHA:2849
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Abnormal pinna morphology, Pulmonary artery stenosis, Postaxial hand p... ORPHA:75389
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Short sperm flagella, Male infertility OMIM:620197
Weaver Syndrome
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus d... OMIM:277590
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Short neck, Downturned corners of mouth, High palate, Widely spaced teeth,... ORPHA:369891
Aspergillosis
Sinusitis, Vitritis, Abnormal long bone morphology, Intracranial hemorrhage, Diffuse reticular or... ORPHA:1163
Camptodactyly Syndrome, Guadalajara Type 3
Abnormal pinna morphology, Symblepharon, Sternocleidomastoid amyotrophy, Short neck, Abnormal rib... ORPHA:488434
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Single transverse palmar crease, Hemivertebrae, Coxa vara, Pectus carinatum, Clinodactyly of the ... OMIM:614701
Cri-Du-Chat Syndrome
Single transverse palmar crease, Short neck, Short metatarsal, Orofacial cleft, Downturned corner... OMIM:123450
2P15P16.1 Microdeletion Syndrome
Protruding ear, Enlarged thorax, High palate, Bilateral single transverse palmar creases, Multicy... ORPHA:261349
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Encephalocele, Cataract, Abnormal optic disc mo... ORPHA:65
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Prominent corneal nerve fibers, Short neck, Pectus ex... OMIM:616564
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Micrognathia, Hemivertebrae, Protruding ear, Downturned corners of mouth, ... OMIM:156200
6P22 Microdeletion Syndrome
Finger syndactyly, Short neck, Patent ductus arteriosus, Hydrocephalus, Overfolded helix, Low-set... ORPHA:251046
Schimke Immunoosseous Dysplasia
Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat... OMIM:242900
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the maxilla, High palate, Conductive hearing impai... ORPHA:1307
Intellectual Disability, Wolff Type
Microretrognathia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Macrotia, Thick lower li... ORPHA:3080
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity, Enuresis, Malar flattening, Open mouth, Retrognathia OMIM:613670
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Flexion contracture, Microcornea, Premature graying of hair, Lentiglobus... ORPHA:90324
Werner Syndrome
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Premature graying of hair, Thyroi... ORPHA:902
Spinocerebellar Ataxia-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Optic atrophy, Downturned corners of mouth, Slender long bone,... ORPHA:1185
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Flexion contracture, Femoral bowing, Narrow chest, Atrial septal defect, Arachnodactyly, Wide ant... OMIM:207410
Smith-Magenis Syndrome
Mandibular prognathia, Retinal detachment, Everted upper lip vermilion, Hearing impairment, Abnor... OMIM:182290
Distal Duplication 6P
Sacral dimple, Cataract, Micrognathia, Short neck, Aplasia/Hypoplasia of the earlobes, Abnormal l... ORPHA:1745
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Optic atrophy, Abnormal rib morphology, Conductive hearing impairment,... ORPHA:1513
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Single transverse palma... OMIM:619720
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Death in infancy, Ventricular septal defect, Proteinuria, Nephrogenic diabetes insipidus, Jaundic... OMIM:613404
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Subcutaneous lipoma, Sclerocornea, Limbal dermoid, Cryptorchidism, Hyd... OMIM:613001
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High p... ORPHA:861
Lmna-Related Cardiocutaneous Progeria Syndrome
Intracranial hemorrhage, Aortic root aneurysm, Aortic atherosclerotic lesion, Abnormality of the ... ORPHA:363618
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Macrotia, Optic atrophy, Decreased fertility, Hypoplasia of teeth, Mic... OMIM:234050
Fetal Trimethadione Syndrome
Ambiguous genitalia, Ventricular septal defect, Hypospadias, Micrognathia, High palate, Transposi... ORPHA:1913
Jawad Syndrome
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... OMIM:251255
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Acrocardiofacial Syndrome
Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Death in infancy, Hyperthyroidism, ... ORPHA:2008
Mgat2-Cdg
Respiratory distress, Dental crowding, Decreased circulating IgG level, Low-set, posteriorly rota... ORPHA:79329
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duc... ORPHA:2519
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Senso... OMIM:194350
Refractory Celiac Disease
Villous atrophy, Malabsorption, Chronic diarrhea, Protein-losing enteropathy, Jejunitis ORPHA:398063
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial ef... ORPHA:36412
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Aplasia of the epiglottis, Narrow chest, Atrioventricular canal defect, Acc... OMIM:617088
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Tapered finger, Optic atrophy, Protru... ORPHA:401777
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Umbilical hernia, Decreased corneal thickne... OMIM:614170
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Myositis, Flexion contracture, Muscle fiber atrophy, ... ORPHA:258
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Mowat-Wilson Syndrome
Bifid scrotum, Uplifted earlobe, Pectus carinatum, Microcornea, Widely spaced teeth, Chorioretina... OMIM:235730
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth... ORPHA:2919
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Hypoplasia of the ulna, Calcinosis, Telangiectasia of the skin, Abnorm... ORPHA:2909
Autosomal Dominant Polycystic Kidney Disease
Dilatation of the cerebral artery, Aortic root aneurysm, Abnormal systemic arterial morphology ORPHA:730
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Aplasia/hypoplas... ORPHA:2141
Mend Syndrome
Micrognathia, High palate, Broad hallux, Asymmetry of the mouth, Wide anterior fontanel, Cryptorc... ORPHA:401973
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Limb joint contracture, Hearing impairment, Cryptorchidism, Patent ductus arteriosus, R... OMIM:620327
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Pectus ... ORPHA:536545
Giant Cell Arteritis
Glossitis, Pericarditis, Renal insufficiency, Diabetes insipidus, Epistaxis, Abnormal pleura morp... ORPHA:397
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... OMIM:253220
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, Failure to thrive, Hypospadias, Micrognathia, Short neck, Cryp... ORPHA:98791
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Tetralogy of Fallot, Renal hypoplasia, Renal cyst, Hematuria, R... OMIM:610205
Nail-Patella Syndrome
Back pain, Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur ... ORPHA:2614
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Micrognathia, Clinodactyly of the 5th finger, Atrial septal defect, Atriovent... ORPHA:3047
Mckusick-Kaufman Syndrome
Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ... ORPHA:2473
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Whe... OMIM:620233
Diamond-Blackfan Anemia 10
Respiratory distress, Ventricular septal defect, Posteriorly rotated ears, Congenital diaphragmat... OMIM:613309
Developmental And Epileptic Encephalopathy 36
Microretrognathia, Hydrocephalus, Flexion contracture, Optic atrophy, Small hand, Low-set ears, S... OMIM:300884
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Micrognathia, Flexion contracture, High palate, Neonat... OMIM:618186
Filippi Syndrome
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, O... OMIM:272440
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
Restrictive Dermopathy 1
Ureteral duplication, Prominent superficial blood vessels, Adrenal hypoplasia, Micrognathia, Flex... OMIM:275210
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Sensori... ORPHA:2790
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Takayasu Arteritis
Ascending tubular aorta aneurysm, Vasculitis, Arterial stenosis, Vascular dilatation ORPHA:3287
Knobloch Syndrome 1
Occipital encephalocele, Persistent pupillary membrane, Spina bifida occulta, Renal duplication, ... OMIM:267750
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... OMIM:608670
Zygomycosis
Sinusitis, Rhinorrhea, Acute infectious pneumonia, Air crescent sign, Colitis, Cough, Chemosis, N... ORPHA:73263
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Wieacker-Wolff Syndrome
Apnea, Proximal placement of thumb, Micrognathia, Short neck, High palate, Narrow chest, Neonatal... OMIM:314580
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Ventricular septal defect, Small for gestational age, Hearing impairment, Hypoplas... OMIM:614261
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Proximal p... ORPHA:1488
Trisomy 10P
Decreased muscle mass, Micrognathia, Abnormality of the ear, Hemivertebrae, Orofacial cleft, High... ORPHA:171929
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Oxyge... ORPHA:60025
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aortic root aneurysm ORPHA:449291
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Papilledema, Craniofacial hyperostosis, Thickened ribs, Craniofacial osteo... OMIM:122860
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Hamart... OMIM:277170
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Ventricular septal defect, Micrognathia, Cardiomega... OMIM:614921
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Premature graying ... OMIM:194050
Chromosome 10Q26 Deletion Syndrome
Congenital hip dislocation, Small scrotum, Single transverse palmar crease, Micrognathia, Short n... OMIM:609625
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Cardi... ORPHA:3472
Atelis Syndrome 1
Cataract, Ventricular septal defect, Glue ear, Carious teeth, Bronchiectasis, Lumbar kyphosis, Mi... OMIM:620184
Perlman Syndrome
Distal ileal atresia, Tented upper lip vermilion, Everted upper lip vermilion, Renal hamartoma, C... OMIM:267000
Carpenter Syndrome 2
Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax... OMIM:614976
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Short nec... OMIM:249000
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Intestinal malrotation, Posteriorly rotated ears, Micrognathia, Carious... OMIM:613684
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Micrognathia, Fasting hyperinsuli... ORPHA:79474
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Rocker bottom foot, High palate, Low-set ears, Long philtrum, Arthrogryposis multiplex congenita,... OMIM:619072
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Smooth philtrum, Aortic dissection, Dental crowding, Micrognathia, Long fingers, Bruising suscept... OMIM:618343
Spastic Paraplegia-Nephritis-Deafness Syndrome
Clinodactyly of the 5th finger, Nephropathy, Sensorineural hearing impairment, Proteinuria ORPHA:2820
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Pneumonia, Increased pulmonary vasc... ORPHA:99104
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Downturned cor... OMIM:618067
Adams-Oliver Syndrome 4
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Short toe, Absent middle ph... OMIM:615297
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia, Cleft upper lip, ... OMIM:312150
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Broad hallux, Hypospadias, Posteriorly rotated ears, Cryptorchi... OMIM:619314
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m... ORPHA:1328
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Intellectual Developmental Disorder, X-Linked 106
Thin upper lip vermilion, Bicuspid aortic valve, Hypospadias, Cryptorchidism, Thick vermilion bor... OMIM:300997
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Sandal gap, Ventricular septal defect, High, narrow palate, ... ORPHA:2515
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep... OMIM:617137
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Unilateral renal agenesis, Precocio... ORPHA:3306
Teebi-Shaltout Syndrome
Single transverse palmar crease, High, narrow palate, Pectus carinatum, Oligodontia, Small earlob... OMIM:272950
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Warburg-Cinotti Syndrome
Dental crowding, High palate, Conductive hearing impairment, Wrist flexion contracture, Symblepha... OMIM:618175
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... OMIM:311200
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Cataract, Aplasia/Hypoplasia of the lens, Hypospadias, Cryptorchidism, Genu ... ORPHA:1381
Fanconi Anemia, Complementation Group B
Death in infancy, Optic disc hypoplasia, Ventricular septal defect, Hypergonadotropic hypogonadis... OMIM:300514
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Micrognathia, Alobar holoprosencephaly, Thoracic hemivertebrae, Patent for... OMIM:301043
2p15-16.1 microdeletion syndrome
Hydronephrosis, Optic disc hypoplasia, Camptodactyly of finger DECIPHER:70
Chromosome 16Q22 Deletion Syndrome
Broad hallux, Single transverse palmar crease, Hypospadias, Micrognathia, Posteriorly rotated ear... OMIM:614541
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Renal hypoplasia, Vesicoureteral reflux, Perime... OMIM:611376
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Respiratory distress, Posteriorly rotated ears, Dental crowd... OMIM:614669
Meester-Loeys Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... OMIM:300989
Jacobsen Syndrome
Micrognathia, Short neck, Flexion contracture, Microcornea, Clitoral hypoplasia, Holoprosencephal... OMIM:147791
Sotos Syndrome
Ureteral duplication, No permanent dentition, Flexion contracture, Vesicoureteral reflux, Atrial ... ORPHA:821
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ... OMIM:120200
Greenberg Dysplasia
Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Abnormal lung lobation, Tetraph... OMIM:215140
Mental Retardation Syndrome, Mietens-Weber Type
Elbow flexion contracture, Absent proximal radial epiphyses, Forearm undergrowth, Dislocated radi... OMIM:249600
Bardet-Biedl Syndrome 2
Diabetes mellitus, Bicuspid aortic valve, External genital hypoplasia, Postaxial hand polydactyly... OMIM:615981
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
W Syndrome
Hypoplasia of the ulna, Radial bowing, Broad uvula, Metatarsus adductus, Elbow dislocation, Submu... ORPHA:2804
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
17Q24.2 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Short neck, Pineal cyst, Sho... ORPHA:529962
Fragile X Syndrome
Mandibular prognathia, Macroorchidism, postpubertal, Pectus excavatum, Mitral valve prolapse, Sco... OMIM:300624
Fanconi Anemia, Complementation Group F
Sacral dimple, Failure to thrive, Pneumonia, Decreased response to growth hormone stimulation tes... OMIM:603467
Hurler Syndrome
Short neck, Metaphyseal widening, Flexion contracture, Endocardial fibroelastosis, Microdontia, R... OMIM:607014
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Clef... OMIM:620269
Pallister-Killian Syndrome
Congenital hip dislocation, Small scrotum, Single transverse palmar crease, Congenital diaphragma... OMIM:601803
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Short neck, Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Mi... OMIM:619194
Sotos Syndrome
Mandibular prognathia, High, narrow palate, Increased body weight, High palate, Otitis media, Atr... OMIM:117550
Micro Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypoplasia of penis, Cata... ORPHA:2510
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Hypoplasia of penis, Micrognathia, Short neck, Pectus carinatum, Conductiv... ORPHA:3082
Pseudo-Torch Syndrome 1
Microretrognathia, Renal insufficiency, Cataract, Cleft lip, Patent ductus arteriosus, Jaundice, ... OMIM:251290
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Ventricular septal defect, Micrognathia, Abnormality of the endo... ORPHA:166035
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Micrognathia, Abnormal lung lobation, Orofacial cleft, Microcornea, Iris c... ORPHA:3301
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious... OMIM:617102
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Failure to thrive, Large fleshy ears, Astigmatism, Everted lower lip vermilion, Short philtrum, L... OMIM:619556
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Apnea, Deep philtrum, Aspiration pneumonia, Vesicoureteral reflux, Atrial ... ORPHA:438213
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Cherry red spot of the macula, Spina bifida occulta, Tethered cord, Optic disc pallor OMIM:615281
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... OMIM:184400
Cerebellofaciodental Syndrome
Cataract, Ventricular septal defect, Single transverse palmar crease, Tapered finger, Short neck,... OMIM:616202
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Micrognathia, Short neck, Short metatarsal, Renal cyst, Macular degeneratio... OMIM:266920
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Short neck, Swollen lip, Calcaneovalgus deformity, Neonatal death, Pter... OMIM:256520
Classic Multiminicore Myopathy
Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture... ORPHA:324604
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy, Hip dislocation, Sacrococcygeal pilonidal abnormality, Slender long bone... ORPHA:2840
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Short neck, Renal cyst, High palate, Conductive hearing imp... OMIM:102500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Tapered finger, Short neck, Hip dislocation, Obesity, Thin ribs, Irregula... OMIM:618395
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Oral ulcer, Facial erythema, Vasculitis in the skin, Recurrent otiti... OMIM:620321
Orofaciodigital Syndrome Type 2
Apnea, Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tort... ORPHA:2751
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis, Short finger, Tapered finger OMIM:302000
Seckel Syndrome 1
Dental crowding, Abnormal finger flexion crease, Single transverse palmar crease, Micrognathia, S... OMIM:210600
Isotretinoin Syndrome
Sacral dimple, Micrognathia, Cleft palate, Microtia, Spina bifida occulta, Abnormality of the out... ORPHA:2305
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Hypospadias, Selective tooth agenesis, Conical tooth, Hypoplasia of th... OMIM:106260
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Kyphosis, Premature lo... ORPHA:137834
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Abnormal pinna morpholog... ORPHA:35173
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Death in infancy, Ventricular septal defect, Proteinuria, Micrognathia, Hematuria, T... OMIM:616901
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Single transverse palmar crease, Anteverted ears, Protruding ear, Clinodac... ORPHA:459070
Thanatophoric Dysplasia
Abnormality of the kidney, Micromelia, Hearing impairment, Abnormal sacroiliac joint morphology, ... ORPHA:2655
Immunodeficiency 23
Aortic root aneurysm, Vasculitis in the skin OMIM:615816
Fragile X Syndrome
Ascending tubular aorta aneurysm ORPHA:908
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Cataract, Abnormal rib morphology, Downturned corners of mouth,... ORPHA:2643
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Ventricular septal defect, Proximal placement of thumb, Micrognathia, Preax... OMIM:610536
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Thin upper lip vermilion, Renal insufficiency, Toe syndactyly, Retinal dystrophy, Mitral atresia,... ORPHA:140952
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Arachnodactyly, Dental crowding, Kyphoscoliosis, Ectopia lentis, Pectus excavatum, Cutis marmorat... OMIM:236200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Micrognathia, Deep phil... ORPHA:314655
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio acetabuli, F... OMIM:610682
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Sensorin... OMIM:617751
Lethal Congenital Contracture Syndrome 11
Microretrognathia, Flexion contracture, Elbow flexion contracture, Retrognathia, Distal arthrogry... OMIM:617194
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Pectus excavatum, Overfolded helix, Large fleshy ears, Thoracic kypho... OMIM:619092
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Diaphanospondylodysostosis
Respiratory distress, Absent in utero ossification of vertebral bodies, Nephrogenic rest, Microgn... OMIM:608022
Ctcf-Related Neurodevelopmental Disorder
Single transverse palmar crease, Microcornea, Short philtrum, Joint contracture of the 5th finger... ORPHA:363611
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Death in infancy, Vertebral fusion, Recurrent respiratory infections, Block vertebrae,... OMIM:277300
Saul-Wilson Syndrome
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... OMIM:618150
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Wolcott-Rallison Syndrome
Metaphyseal dysplasia, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Jaundic... ORPHA:1667
Cockayne Syndrome
Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Retinal arteriolar constri... ORPHA:191
15Q Overgrowth Syndrome
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... ORPHA:314585
Jeune Syndrome
Abnormality of retinal pigmentation, Abnormal clavicle morphology, Toe syndactyly, Renal insuffic... ORPHA:474
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Megabladder, Congenital
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... OMIM:618719
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Posteriorly rotated ears, Episodic tachypnea, Micrognathia, Hydrocephalus, A... ORPHA:163961
Noonan Syndrome 8
Failure to thrive, Ventricular septal defect, Short neck, Large for gestational age, Cryptorchidi... OMIM:615355
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Bilateral cryptorchidism, Flexion contra... OMIM:263650
Cockayne Syndrome A
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas... OMIM:216400
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Micrognathia, Aplasia of the pectoralis... ORPHA:570
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp... OMIM:618363
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Rocker bottom foot, Posteriorly rotated ears, Exaggerated cupid's bow,... OMIM:618506
Lujan-Fryns Syndrome
Macroorchidism, Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Pectus ex... ORPHA:776
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Dental crowding, Abnormality of the dentition, Small hand, Mitra... ORPHA:2868
Opitz-Kaveggia Syndrome
Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Shor... OMIM:305450
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Death in infancy, Hypoplasia of penis, Failure to thrive, Hypospadias,... ORPHA:2315
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Micrognat... ORPHA:363528
German Syndrome
Camptodactyly of finger, Micrognathia, Short neck, Cryptorchidism, Hearing abnormality, Orofacial... ORPHA:2077
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Micrognathia, Abnormal tibia morphology, Protruding ear, High palate, Atrial septal de... ORPHA:363700
Transaldolase Deficiency
Ventricular septal defect, Small for gestational age, Short neck, Wide anterior fontanel, Patent ... OMIM:606003
Chops Syndrome
Cataract, Ventricular septal defect, Thickened helices, Hearing impairment, Tracheomalacia, High,... OMIM:616368
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Au-Kline Syndrome
Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Vesicourete... OMIM:616580
X Small Rings
Thin upper lip vermilion, Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Prema... ORPHA:96201
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Attenuation of retinal blood vessels, Thin upper lip vermilion, Cataract, Rhizomelia, Proteinuria... OMIM:614376
Trisomy 20P
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Protruding ear, Downturned corne... ORPHA:261318
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Mandibular prognathia, Finger syndactyly, Branchial cyst, Thin upper lip vermilion, Hypospadias, ... ORPHA:435938
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormal... ORPHA:1040
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Myopathy, Hypertrophic cardiomyopathy, Failure to thrive ORPHA:91130
Histiocytoid Cardiomyopathy
Cyanosis, Corneal opacity, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Tachypnea, Opt... ORPHA:137675
Frontoocular Syndrome
Posteriorly rotated ears, Micrognathia, Pectus excavatum, Narrow mouth, Narrow philtrum, High pal... OMIM:605321
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Tubulointerstitial nephritis, Cough, Acrocyanosis, Glomerulopathy, Abnormal ... ORPHA:183
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Colitis, Protracted diarrhea, Malabsorption OMIM:209920
Zechi-Ceide Syndrome
Mandibular prognathia, Sandal gap, Conductive hearing impairment, Cleft lip, Short metatarsal, Ab... ORPHA:217017
Ear-Patella-Short Stature Syndrome
Respiratory distress, Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow ... ORPHA:2554
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Tapered finger, Supernumerary tooth, Patent duc... ORPHA:86818
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Sandal... ORPHA:2715
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Ectopic kidney, Tracheo... ORPHA:268249
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm OMIM:615349
Baraitser-Winter Cerebrofrontofacial Syndrome
Failure to thrive, Hydroureter, Transient ischemic attack, Duplication of thumb phalanx, Abnormal... ORPHA:2995
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Chronic gastritis, Bicuspid aortic valve, Single transverse palmar crease,... OMIM:150230
Hsd10 Disease, Infantile Type
Cyanosis, Cardiomegaly, Optic atrophy, Abnormality of the lower urinary tract, Abnormal concentra... ORPHA:391428
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Maternal diabetes, Abnormality of t... ORPHA:1570
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Transient ischemic attack, Pneumonia, Breathing dysregulation, Increased pul... ORPHA:99103
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy
Retrognathia, Small for gestational age OMIM:619844
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Pectus excavatum, Patent ductus... OMIM:618330
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Congenital hip dislocation, Abnormal periodontium morphology, High palate, ... ORPHA:480880
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal... OMIM:215045
Temple-Baraitser Syndrome
Broad hallux, Proximal placement of thumb, Adducted thumb, Downturned corners of mouth, Wide mout... OMIM:611816
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Stroke, Aortic dissect... OMIM:175050
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Retinal detachment, Failure to thrive, Cataract, Optic nerve hypoplasia, R... OMIM:620157
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... OMIM:602418
Kbg Syndrome
Tented upper lip vermilion, Single transverse palmar crease, Short neck, Epispadias, Protruding e... OMIM:148050
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal dental morpholog... ORPHA:2878
Hyperphosphatasia-Intellectual Disability Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Short neck, Anteriorly placed an... ORPHA:247262
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... ORPHA:42775
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Single transverse palmar crease, Short neck, Tibi... OMIM:269150
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Abnormal tongue morphology, Abnormal heart morphology, Downturned corners of mout... ORPHA:531151
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co... OMIM:180700
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Absent nipple, Pectus excavatum, Patent ductus arteriosus... OMIM:104350
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Temtamy Syndrome
Aortic aneurysm OMIM:218340
Aneurysm-Osteoarthritis Syndrome
Pectus carinatum, High palate, Bifid uvula, Abdominal aortic aneurysm, Arachnodactyly, Arterial t... ORPHA:284984
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Abnormal pinna morphol... ORPHA:3078
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia, Flexion contractu... OMIM:253290
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Mandibular prognathia, Dental crowding, Metaphyseal widening, Pectus carinatum, High palate, Clin... OMIM:620083
Combined Oxidative Phosphorylation Deficiency 5
Death in infancy, Posteriorly rotated ears, Low-set ears, Hypertrophic cardiomyopathy, Retrognath... OMIM:611719
Dermatitis, Atopic
Keratoconus, Cataract, Allergic rhinitis, Asthma, Facial erythema, Conjunctivitis OMIM:603165
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Thin upper lip vermilion, Macroorchidism, Arachnodactyly... OMIM:309520
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
6Q16 Microdeletion Syndrome
Abnormal ear morphology, Micrognathia, Tapered finger, Abnormal thorax morphology, Obesity, Micro... ORPHA:171829
Burn-Mckeown Syndrome
Mandibular prognathia, Ventricular septal defect, Unilateral renal agenesis, Micrognathia, Hearin... OMIM:608572
Kleefstra Syndrome 1
Mandibular prognathia, Single transverse palmar crease, Conotruncal defect, Micropenis, Hypospadi... OMIM:610253
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement OMIM:276821
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Micrognathia, Secund... ORPHA:2260
Wiedemann-Steiner Syndrome
Micrognathia, High palate, Clinodactyly of the 5th finger, Atrial septal defect, Short phalanx of... OMIM:605130
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Atelec... ORPHA:2314
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Recurrent upper respiratory tract infections, Abnormal corneal endotheli... ORPHA:69736
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Hearing impairment, P... OMIM:618027
Hennekam Syndrome
Abnormal oral mucosa morphology, Ectopic kidney, Short philtrum, Narrow chest, Conductive hearing... ORPHA:2136
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Chronic diarrhea, Vomiting OMIM:619510
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Aortic root aneurysm, Generalized arterial tortuosity, Pulmonary artery aneu... OMIM:614437
Congenital Heart Defects And Ectodermal Dysplasia
Premature loss of primary teeth, 2-3 toe cutaneous syndactyly, Widely spaced teeth, Scoliosis, Mi... OMIM:617364
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Hypoplasia of the maxilla, ... ORPHA:306542
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Small for gestational age, Cardiome... ORPHA:555874
Neuroocular Syndrome
Hyperextensibility of the finger joints, Lens coloboma, Microcornea, Downturned corners of mouth,... OMIM:619539
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Limb-girdle muscle weakness, Pectus carinatum, High palate, Muscle fi... ORPHA:98914
Congenital Myasthenic Syndrome
Congenital hip dislocation, Limb-girdle muscle weakness, Pectus carinatum, High palate, Muscle fi... ORPHA:590
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, S... OMIM:616300
Spondylocostal Dysostosis 2, Autosomal Recessive
Recurrent respiratory infections, Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Rest... OMIM:608681
Omodysplasia 1
Micrognathia, Short neck, Limited elbow flexion, Atrial septal defect, Short tibia, Increased fib... OMIM:258315
Noonan Syndrome 1
Micrognathia, Short neck, High, narrow palate, Abnormal sternum morphology, High palate, Atrial s... OMIM:163950
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Single transverse palmar crease, Rhizomelia, Micrognathia, Hearing imp... OMIM:614114
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Micropenis, Calvarial ... OMIM:616331
17Q23.1Q23.2 Microdeletion Syndrome
Patellar hypoplasia, Protruding ear, Congenital contracture, Widely spaced teeth, Clinodactyly of... ORPHA:261279
Kabuki Syndrome 1
Congenital hip dislocation, Premature thelarche, Micrognathia, Protruding ear, High palate, Promi... OMIM:147920
Camptodactyly Syndrome, Guadalajara, Type Iii
Small hypothenar eminence, Torticollis, Abnormal pinna morphology, Symblepharon, Short neck, Abse... OMIM:611929
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Thanatophoric Dysplasia Type 2
Encephalocele, Abnormality of the kidney, Micromelia, Hearing impairment, Kyphosis, Patent ductus... ORPHA:93274
Rin2 Syndrome
Aortic aneurysm ORPHA:217335
Congenital Heart Block
Cyanosis, Crackles, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, P... ORPHA:60041
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,... ORPHA:2249
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Thickened helices, Hypoplasia of the maxilla, Narrow mouth, Pectus carinatu... ORPHA:261295
Combined Oxidative Phosphorylation Deficiency 31
Cataract, Micrognathia, Wide mouth, Left ventricular noncompaction, Increased intramyocellular li... OMIM:617228
20P13 Microdeletion Syndrome
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears... ORPHA:313781
Catel-Manzke Syndrome
Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, Glossoptosis, High p... OMIM:616145
16P13.11 Microduplication Syndrome
Arachnodactyly, Ventricular septal defect, Pectus excavatum, Coarctation of aorta, Hand polydacty... ORPHA:261243
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Micrognathia, Short neck, Short palm, Clinodactyly of the 5th finger, Micropenis, Broad hallux, C... OMIM:620073
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Micrognathia, Cough, Atrial septal defect, Microdontia, Decreased circulating IgG level, Hypothyr... OMIM:620005
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent ductus arteriosus, Sens... OMIM:618652
Monosomy 9Q22.3
Short neck, Palmar pits, Large for gestational age, Cardiac fibroma, Orofacial cleft, Odontogenic... ORPHA:77301
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Hypospadias, Pectus excavatum, Mitral valve prolapse, Bilateral cleft l... OMIM:618874
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Ectop... ORPHA:115
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Spina bifida occulta, Hydronephrosis OMIM:618060
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Apnea, Abn... ORPHA:667
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Retinal detachment, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli,... OMIM:225400
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... ORPHA:166016
Meacham Syndrome
Bicuspid aortic valve, Blind vagina, Death in childhood, Scimitar anomaly, Neonatal death, Atrial... OMIM:608978
Fabry Disease
Renal insufficiency, Transient ischemic attack, Corneal dystrophy, Abnormality of the hand, Prote... OMIM:301500
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, External genital hypoplasia, Micrognathia, Short neck, Tibial bowing, Coloboma, ... ORPHA:251028
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Metaphyseal wide... OMIM:259600
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Cryptorchidism, Kyphosis, Cleft lip, Cleft palate, Protr... OMIM:619123
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Gaucher Disease, Perinatal Lethal
Respiratory distress, Everted upper lip vermilion, Decreased body weight, Petechiae, Apnea, Micro... OMIM:608013
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Thoracic hypoplasia, Lateral clavicle hook, Postaxial hand polydactyly... OMIM:615630
Weill-Marchesani Syndrome
Cataract, Ventricular septal defect, Ectopia lentis, Short thumb, Pulmonic stenosis, Aortic valve... ORPHA:3449
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Abnormal pinna morphology, Dental crowding, Micrognathia, Mitral... ORPHA:228410
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Proteinuria, Abnormal palmar dermatoglyphics, Cryptorchidism, Neonatal asphyxia, C... ORPHA:2728
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Optic disc pallor, Sandal gap, Posteriorly rotated ears, Congenital diap... OMIM:300887
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Enuresis nocturna, Pi... OMIM:615873
Walker-Warburg Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Chorioretinal dysplasia, Protruding ear, Microcorne... ORPHA:899
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Flexion contracture, Pulmonary hypoplasia, Abnor... OMIM:616733
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Hypospadias, Dental crowding, Tracheobronchomalacia, Pierre-Robin sequence, Cle... OMIM:619184
Noonan Syndrome 11
Posteriorly rotated ears, Pectus excavatum, Thick vermilion border, Bilateral sensorineural heari... OMIM:618499
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Hallux valgus, Failure to thrive, Diabetes mellitus, Small for gestational age, Micrognathia, Sec... OMIM:620194
Ulna Metaphyseal Dysplasia Syndrome
Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Nephrolith... ORPHA:1837
Costello Syndrome
Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Short neck, Pectus... OMIM:218040
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Decreased body weight, Dental crowding, Persistence of primary teeth, Micrognathia, Sensorineural... OMIM:618342
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Rocker bottom foot, Urinary incontinence, Tapered finger, Pericardial effusion,... OMIM:620070
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short neck, High, narrow palate, Hydrocephalus, Obesity, Mitral v... ORPHA:2183
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Coxa valga, Pectus excavat... OMIM:614753
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Atrial septal defect, Atrioventricular canal defect,... ORPHA:210122
Congenital Tracheal Stenosis
Respiratory distress, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lung lobatio... ORPHA:141127
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Atelectasis, Pulmonary artery stenosis, Absent outer dynein arms, Bronchiecta... OMIM:615067
Hardikar Syndrome
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Cleft soft ... OMIM:301068
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Cry... ORPHA:261250
Angelman Syndrome
Keratoconus, Optic disc pallor, Mandibular prognathia, Precocious puberty in females, Protruding ... ORPHA:72
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Micrognathia, Short neck, Patent ductus arteriosus, Bilateral cleft lip a... ORPHA:2001
Mulchandani-Bhoj-Conlin Syndrome
Failure to thrive, Posteriorly rotated ears, Hyperlordosis, 2-3 toe syndactyly, Horseshoe kidney,... OMIM:617352
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Mandibular prognathia, Thin upper lip vermilion, Cryptorchidism, Protruding ear, Wide mouth, Ever... OMIM:619595
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Hypospadias, Ventricular septal defect, Congenital diaphragmatic herni... OMIM:611812
Intellectual Developmental Disorder, Autosomal Recessive 41
Mandibular prognathia, Recurrent pneumonia, High palate, Clinodactyly of the 5th finger, Prominen... OMIM:615637
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Chronic diarrhea, Functional abnormality of the... ORPHA:90362
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Proximal placement of thumb, Single transverse ... OMIM:618619
Stromme Syndrome
Cataract, Jejunal atresia, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Intestinal malrota... OMIM:243605
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Micrognathia, Pectus excavatum, Cryptorchidism, Conductive hea... ORPHA:1131
Faciocardiorenal Syndrome
Narrow mouth, Cleft palate, Protruding ear, Horseshoe kidney, Hypodontia, Tricuspid valve prolaps... ORPHA:1973
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath... OMIM:620369
Campomelic Dysplasia
Micrognathia, Short neck, Tibial bowing, Femoral bowing, Narrow chest, Hypoplastic inferior ilia,... ORPHA:140
Noonan Syndrome 5
Mandibular prognathia, Thickened helices, Short neck, Large for gestational age, Cryptorchidism, ... OMIM:611553
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy, Sensorineural hearing impairment, Left ventricular hypert... OMIM:616974
Peroxisome Biogenesis Disorder 7A (Zellweger)
Death in infancy, Cataract, Posteriorly rotated ears, Wide anterior fontanel, Jaundice, Epiphysea... OMIM:614872
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Micrognathia, Optic atrophy, Gingival overgrowth, Short upper lip, Astigmatism, Short philtrum, S... OMIM:616875
Craniosynostosis-Mental Retardation-Clefting Syndrome
Orofacial cleft, Forearm undergrowth, Lower limb undergrowth, Chorioretinal coloboma, Renal dyspl... OMIM:218650
Noonan Syndrome 12
11 pairs of ribs, Ventricular septal defect, Decreased response to growth hormone stimulation tes... OMIM:618624
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Micrognathia, Abnormality of the urethra, Abnormality of the upper... ORPHA:2145
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Palmar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, ... OMIM:109400
Jansen-De Vries Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Posteriorly rotated e... OMIM:617450
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Postaxial polydactyl... ORPHA:404440
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, M... OMIM:614424
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Micromelia, Adrenal hypoplasia, Cryptorchidism, Hypogonadism,... ORPHA:85173
Anti-Glomerular Basement Membrane Disease
Retinal detachment, Renal insufficiency, Glomerulopathy, Proteinuria, Persistence of primary teet... ORPHA:375
Desbuquois Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Coxa valga... ORPHA:1425
Stickler Syndrome
Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral ... ORPHA:828
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Sclerocornea, Micrognathia, Anterior... OMIM:216340
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Mandibular prognathia, Tapered finger, Optic atrophy, Tooth malposition, Wide mouth, Astigmatism,... OMIM:619576
Legius Syndrome
Posteriorly rotated ears, Micrognathia, Pectus excavatum, High, narrow palate, Short neck, Suprav... OMIM:611431
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Short neck, Cryptorchidism, Wide mouth, Macroglossia, Coloboma, Everted lower lip vermilion, Tali... OMIM:616789
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Hemivertebrae, ... OMIM:164210
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Micrognathia, Renal cyst, Coloboma, High palate, Vesicoureteral reflux, Clinodactyly of the 5th f... OMIM:616975
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Cardiomegaly, High, narrow palate, Pineal cyst, Short philtrum, Widely spaced te... OMIM:300967
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Failure to thrive, Bicuspid aortic valve, Posteriorly rotated ears, Short neck, Pectus excavatum,... OMIM:613563
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Mesoaxial hand polydactyly... ORPHA:46627
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Nephrolithias... ORPHA:369929
Basilicata-Akhtar Syndrome
Short palm, Tented upper lip vermilion, Abnormal pinna morphology, Single transverse palmar creas... OMIM:301032
Renpenning Syndrome 1
Mandibular prognathia, Micrognathia, Protruding ear, Coloboma, High palate, Short philtrum, Death... OMIM:309500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Ky... OMIM:603387
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Knee flexion contracture, Inflammatory myopathy, H... ORPHA:1145
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular se... OMIM:619980
X-Linked Intellectual Disability, Van Esch Type
Failure to thrive, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotr... ORPHA:163976
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Protruding ear, Tubu... OMIM:218330
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal irregularity,... ORPHA:457395
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, High palate, Narrow chest, Diaphragmatic event... OMIM:618975
Kapur-Toriello Syndrome
Hypoplasia of penis, Failure to thrive, Ventricular septal defect, Intestinal malrotation, Poster... ORPHA:2328
Dextrocardia
Meckel diverticulum, Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inve... ORPHA:1666
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Respiratory insufficiency, Respiratory failure, High palate, Arthrogryposis multip... OMIM:615330
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Situs inversus... OMIM:202650
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect, Micrognathia, Conductive hearing impairment, Cleft lip,... ORPHA:398156
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, Short philtrum, Wi... OMIM:301044
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Lymphangioleiomyomatosis
Abnormal urinary color, Recurrent respiratory infections, Renal neoplasm, Retinal hamartoma, Atel... ORPHA:538
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Unilateral cryptorchidism, Optic nerve hypoplasia, Abnormal pulmonary v... ORPHA:137634
Cockayne Syndrome B
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypoplasia of t... OMIM:133540
Gastritis, Familial Giant Hypertrophic
Vascular dilatation OMIM:137280
Vacterl With Hydrocephalus
Micrognathia, Aqueductal stenosis, Hemivertebrae, Abnormal form of the vertebral bodies, Microcor... ORPHA:3412
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... ORPHA:94066
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
19P13.3 Microduplication Syndrome
Ventricular septal defect, Unilateral cryptorchidism, Posteriorly rotated ears, Micrognathia, Pre... ORPHA:447980
Alg12-Cdg
Proximal placement of thumb, Micrognathia, Short philtrum, Clinodactyly of the 5th finger, Microp... ORPHA:79324
Galloway-Mowat Syndrome 2, X-Linked
Arachnodactyly, Proteinuria, Minimal change glomerulonephritis, Micrognathia, Stage 5 chronic kid... OMIM:301006
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing... OMIM:151210
Synaptic Congenital Myasthenic Syndromes
Mandibular prognathia, Skeletal muscle atrophy, Respiratory distress, Hand muscle weakness, High ... ORPHA:98915
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea ORPHA:309108
Acces Syndrome
Recurrent respiratory infections, Failure to thrive, Supernumerary nipple, Hip dislocation, Trach... OMIM:619959
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve... ORPHA:87
Orofaciodigital Syndrome V
Lobulated tongue, High palate, Bifid uvula, Hamartoma of tongue, Optic disc coloboma, Postaxial f... OMIM:174300
Generalized Arterial Calcification Of Infancy
Respiratory distress, Medial calcification of large arteries, Choroidal neovascularization, Adren... ORPHA:51608
Achondroplasia
Respiratory distress, Bowing of the legs, Femoral bowing, Narrow greater sciatic notch, Conductiv... OMIM:100800
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Rocker bottom foot, Micrognathia, Flexion contracture, Renal hypoplasia, Lacti... OMIM:604273
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Patent foramen ovale, Retinal degeneration ORPHA:542306
Li-Ghorbani-Weisz-Hubshman Syndrome
Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth... OMIM:618974
Cockayne Syndrome Type 1
Mandibular prognathia, Absent brainstem auditory responses, Uveitis, Widely spaced primary teeth,... ORPHA:90321
Mandibuloacral Dysplasia Progeroid Syndrome
Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short philtrum, Deat... OMIM:619127
Noonan Syndrome 9
Hydroureter, Ventricular septal defect, Prominent corneal nerve fibers, Short neck, Cryptorchidis... OMIM:616559
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Single transverse palmar crease, Urinary incontinence, Downturned corners of ... OMIM:619522
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Immunodeficiency 43
Hypoplasia of the ulna, Recurrent respiratory infections, Radial bowing, Lung abscess, Decreased ... OMIM:241600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Increased intervertebral space, Narrow greater sciatic notc... ORPHA:508533
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormal pinna morphology, Micrognathia, Optic atrophy, Gingival overgrowth, Astigmatism, Short p... ORPHA:480898
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Micrognathia, Aqueductal steno... OMIM:620305
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Ventricular septal defect, Small for gestational age, Hearing impairment, Micro... OMIM:208085
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Genu valgum, Wide... OMIM:617798
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Spinal ri... ORPHA:86812
Mend Syndrome
Micrognathia, High palate, Microretrognathia, Broad hallux, Cryptorchidism, 2-3 toe syndactyly, M... OMIM:300960
Netherton Syndrome
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia OMIM:256500
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Respiratory distress, Hypoplasia of penis, Cyclopia, Situs inv... ORPHA:990
9Q31.1Q31.3 Microdeletion Syndrome
Mandibular prognathia, Bicuspid aortic valve, Cervical kyphosis, Tapered finger, Short neck, Over... ORPHA:401923
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Tapered finger, Short neck, Macrotia, Narrow mouth, Obesity, Narrow palate, Hypopla... OMIM:620250
Raine Syndrome
Mandibular prognathia, Micromelia, Micrognathia, Short neck, Protruding ear, High palate, Neonata... OMIM:259775
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased body weight, Vesicoureteral r... OMIM:618265
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Death in infancy, Cataract, Ventricular septal defect, Ectopic kidney, Cryptor... OMIM:613730
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Respiratory distress, Abnormal oral mucosa morphology, Renal cyst, Aplasia/Hy... ORPHA:79404
Mucolipidosis Ii Alpha/Beta
Cardiomegaly, Micrognathia, Metaphyseal widening, Death in childhood, Megalocornea, Progressive a... OMIM:252500
Periventricular Nodular Heterotopia 1
Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short f... OMIM:300049
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Urinary incontinence, Tibial bowing, Femoral bowing, Narrow chest, Neonatal... OMIM:616482
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Micrognathia, Macroglossia, Short long bone, Narrow chest, Flar... ORPHA:1423
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Cataract, Tapered finger, Sensorineural hearing impairment, Flexion contrac... ORPHA:544503
Neu-Laxova Syndrome
Skeletal muscle atrophy, External genital hypoplasia, Micromelia, Micrognathia, Flexion contractu... ORPHA:2671
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... ORPHA:3103
Microcephaly 8, Primary, Autosomal Recessive
Retrognathia OMIM:614673
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle wea... OMIM:220110
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent urinary tract infections, Cataract, Wide anterior... ORPHA:90349
Cranioacrofacial Syndrome
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Roifman Syndrome
Noncompaction cardiomyopathy, Short metacarpal, Hip contracture, Ventricular septal defect, Retin... OMIM:616651
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Rhizomelia, Abnormal pinna morphology, Postaxial polydactyly, Short neck, Kyphoscoliosi... OMIM:302960
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Kyphoscoliosis, Cardiomegaly, Abnormal thumb morphology, Protruding tongue... ORPHA:324410
Neuronal Intranuclear Inclusion Disease
Scoliosis, Spina bifida occulta, Optic atrophy, Abnormal form of the vertebral bodies ORPHA:2289
Ellis-Van Creveld Syndrome
Epispadias, Pectus carinatum, Ectodermal dysplasia, Narrow chest, Hypoplastic iliac wing, Atrial ... OMIM:225500
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Flexion contracture, Renal cyst, Death in childhood, Decreased circulating IgG l... OMIM:212065
Spondyloocular Syndrome
Pectus carinatum, Atrial septal defect, Dysplastic aortic valve, Long toe, Arachnodactyly, Poster... OMIM:605822
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... OMIM:620210
Branchio-Oculo-Facial Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Cataract, Abnormal pinna morphol... ORPHA:1297
Vater/Vacterl Association
Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Triph... OMIM:192350
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... OMIM:619751
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Renal insufficiency, Optic atrophy, Cardiomyopathy, Stroke, Failure to thrive ORPHA:79312
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognat... OMIM:616367
Lateral Meningocele Syndrome
Dental crowding, Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bo... ORPHA:2789
Duodenal Atresia
Duodenal atresia OMIM:223400
Distal Deletion 6P
Micrognathia, Orofacial cleft, Downturned corners of mouth, Hypoplasia of the iris, Vertebral seg... ORPHA:96125
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... OMIM:251450
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Micrognathia... OMIM:613457
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Chr... OMIM:616726
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Corneal opacity, Accessory oral frenulum, Micrognathia, Wide ant... OMIM:619339
X-Linked Intellectual Disability, Schimke Type
Hip contracture, Failure to thrive in infancy, Ankle flexion contracture, Elbow flexion contractu... ORPHA:85285
Sarcosinemia
Peroneal muscle weakness, Optic atrophy, Pulmonic stenosis, Infantile sensorineural hearing impai... ORPHA:3129
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial septal defect,... DECIPHER:39
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Respira... OMIM:607598
Coccidioidomycosis
Respiratory distress, Abnormal long bone morphology, Increased circulating IgG level, Cough, Abno... ORPHA:228123
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... ORPHA:402075
Scleromyxedema
Abnormal coronary artery morphology, Transient ischemic attack, Abnormality of the hand, Abnormal... ORPHA:167635
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, C... OMIM:234100
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Th... ORPHA:249
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Arachnodactyly, Facial hypotonia, Dental crowding, Poor wound healing, Narrow mouth, Mitral valve... OMIM:615539
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Micrognathia, Hypoplasia of the iris, High palate, Hiatus hernia, Ne... OMIM:251300
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... ORPHA:93316
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... OMIM:149730
Cree Mental Retardation Syndrome
Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Cleft soft palate... OMIM:606851
Osteoglophonic Dysplasia
Mandibular prognathia, Respiratory distress, Short neck, Hypoplasia of the maxilla, Short metatar... OMIM:166250
Van Maldergem Syndrome 2
Bifid scrotum, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Microgna... OMIM:615546
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Abnormality of the menstrual cycle, Venous insufficiency, Pulmo... ORPHA:90308
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Chronic diarrhea, Villous atrophy, Ileus OMIM:304790
Gaucher Disease
Cherry red spot of the macula, Death in infancy, Abnormal pericardium morphology, Respiratory ins... ORPHA:355
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Al Amyloidosis
Nonproductive cough, Xerostomia, Abnormal salivary gland morphology, Abnormality of the kidney, N... ORPHA:85443
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Long palm, Arachnodactyly, Aplasia/Hypopl... ORPHA:2759
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Respiratory distress, Elevated circulating thyroid-stimulating hormone concen... ORPHA:209905
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Branchial ... ORPHA:261330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Retinal detachment, Death in infancy, Cataract, Remnants of the hyaloid vascular s... OMIM:614643
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... OMIM:119500
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Sclerocornea, Esop... ORPHA:77298
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Facial hypotonia, Slender build, Uplifted earlobe, Cryptorchidism, Macroti... ORPHA:364028
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Brachydactyly, Small scrotum, Camptodactyly of finger, Posteriorly rotated e... ORPHA:2083
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph... OMIM:154780
Granulomatosis With Polyangiitis
Sinusitis, Otitis media, Abnormal oral cavity morphology, Chronic otitis media, Cough, Abnormalit... ORPHA:900
Osteogenesis Imperfecta, Type X
Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Tibial bowing, Narrow chest, ... OMIM:613848
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Proteinuria, Pneumonia, Weakness of facial musculature, Avascular necro... ORPHA:247691
Aortic Arch Interruption
Respiratory distress, Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus a... ORPHA:2299
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Aqueductal stenosis, Hand oligoda... ORPHA:1788
Fixed Subaortic Stenosis
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Patent ductus... ORPHA:3092
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed ca... OMIM:183900
Ulbright-Hodes Syndrome
Respiratory distress, Maternal diabetes, Micrognathia, Short neck, Ovoid thoracolumbar vertebrae,... ORPHA:3404
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Arachnodactyly, Sandal gap, Micromelia, Abnormality of the ure... ORPHA:1035
Neuralgic Amyotrophy
Scapular winging, Cleft palate, Respiratory insufficiency, Narrow mouth, Sprengel anomaly, Acrocy... ORPHA:2901
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... ORPHA:2753
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Aganglionic megacolon, Posteriorly rotated ears, Tapered finger, Paten... OMIM:613870
Fucosidosis
Decreased muscle mass, Failure to thrive, Corneal opacity, Cardiomegaly, Abnormality of the denti... ORPHA:349
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megacolon, Vesicoureteral re... OMIM:614749
8Q12 Microduplication Syndrome
Ventricular septal defect, Sensorineural hearing impairment, Vesicoureteral reflux, Short foot, L... ORPHA:228399
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... OMIM:156530
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Chylopericardium, Pulmonic stenosi... ORPHA:2414
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Thin upper lip vermilion, Neonatal respiratory distress, ... OMIM:615042
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ... OMIM:305400
Congenital Disorder Of Glycosylation, Type 2V
Thin upper lip vermilion, Cleft palate, Protruding ear, Hydrocele testis, Astigmatism, High palat... OMIM:619493
Spondylo-Ocular Syndrome
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Facial h... ORPHA:85194
Pitt-Hopkins Syndrome
Single transverse palmar crease, Short neck, Short metatarsal, Finger clinodactyly, Short philtru... ORPHA:2896
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... ORPHA:93307
Bardet-Biedl Syndrome 20
Papilledema, Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydac... OMIM:619471
Slc35A2-Cdg
Limb joint contracture, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus ... ORPHA:356961
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Radio-Renal Syndrome
Respiratory distress, Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal form of... ORPHA:3015
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa... OMIM:619026
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Prominent fingertip pads, Arachnodactyly, Micrognathia, Hyperlordosis, Pectus carinatum, Mitral v... OMIM:300986
Monosomy 5P
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Short neck, Small hand, ... ORPHA:281
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal lower limb amyotrophy, Claw hand deformity, Proteinuria, Sensorineural hearing impairment,... OMIM:614455
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Short neck, Flexion contracture, Downturned corners ... OMIM:264090
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Small for gestational a... OMIM:260400
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Abnormal small intestine... ORPHA:90291
Stiff Skin Syndrome
Cataract, Bicuspid aortic valve, Elbow flexion contracture, Knee flexion contracture, Camptodactyly OMIM:184900
Bifid Nose With Or Without Anorectal And Renal Anomalies
Posteriorly rotated ears, Short lingual frenulum, Unilateral renal agenesis, Renal agenesis, Prec... OMIM:608980
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Optic nerve hypoplasia, Scoliosis OMIM:618736
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Retinal degeneration, Glomerulopathy, Ketonuria, Hemoly... ORPHA:79282
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Micrognathia, Hydrocephalus, Small hand, Cleft palate, Tubulointerstit... ORPHA:459061
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Wide anterior fonta... OMIM:619736
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,... OMIM:613561
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Small scrotum, Downturned corners of mo... ORPHA:2215
Arthrochalasia Ehlers-Danlos Syndrome
Abnormality of subcutaneous fat tissue, Coxa valga, Avascular necrosis of the capital femoral epi... ORPHA:1899
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Tracheomalacia, Micrognathia, Metatarsus ... ORPHA:513456
Blomstrand Lethal Chondrodysplasia
Micrognathia, Narrow chest, Distal shortening of limbs, Short metacarpal, Rhizomelia, Aplastic cl... ORPHA:50945
Nager Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Mi... ORPHA:245
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:114300
Juberg-Hayward Syndrome
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abno... ORPHA:2319
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Female infertility, Rhinorrhea, Situs inversus totalis, Goiter, Wheezing, Bronchiec... OMIM:617577
Shox-Related Short Stature
Micrognathia, Short neck, Madelung deformity, Obesity, Tibial bowing, Short foot, Genu valgum, Sk... ORPHA:314795
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Micrognathia, Abnormality of the dentition, Recurrent pneumonia... OMIM:618282
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Renal insufficiency, Cataract, Pulmonary lymphangiectasia, Mitral valve prola... OMIM:247410
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Urinary incontinence, Asymmetry of spinal facet joints, Hyd... OMIM:182940
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Infe... OMIM:615872
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnormal finger mo... ORPHA:2636
Aneurysm Of Sinus Of Valsalva
Dilatation of the sinus of Valsalva, Stroke ORPHA:1054
Ohdo Syndrome
Small scrotum, Proteinuria, Micrognathia, Cryptorchidism, Hypoplasia of teeth, Long philtrum, Mic... OMIM:249620
Tetraploidy
Micrognathia, Renal hypoplasia/aplasia, Radial club hand, Cleft palate, Aplasia/Hypoplasia of the... ORPHA:3305
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Corneal opacity, Congenital diaphragmatic hernia, ... ORPHA:1647
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Bilateral cryptorchidism, Knee... OMIM:617402
Tyshchenko Syndrome
Ventricular septal defect, Posteriorly rotated ears, Supernumerary nipple, Pectus excavatum, High... OMIM:615102
20Q11.2 Microduplication Syndrome
Bifid scrotum, Low-set, posteriorly rotated ears, Sacral dimple, Tented upper lip vermilion, Pect... ORPHA:363659
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Abnormal pinna morphology, Wide anterior fontanel, Glutaric aciduria, Jaund... OMIM:231680
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Nar... ORPHA:66637
Mucopolysaccharidosis, Type X
Spatulate ribs, Posterior scalloping of vertebral bodies, Widely spaced teeth, Broad ribs, Thicke... OMIM:619698
Absence Of The Pulmonary Artery
Abnormal pulmonary thoracic imaging finding, Abnormal coronary artery morphology, Cardiomegaly, N... ORPHA:980
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Cataract, Ventricular septal defect, Pulmonary artery sling, Coronary sinus en... OMIM:619268
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm OMIM:618891
Adnp Syndrome
Respiratory distress, Single transverse palmar crease, Urinary incontinence, Abnormal finger morp... ORPHA:404448
Even-Plus Syndrome
Epiphyseal dysplasia, Recurrent urinary tract infections, Short neck, Vertebral clefting, Vesicou... OMIM:616854
Cardiofaciocutaneous Syndrome 4
Cataract, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Pectus e... OMIM:615280
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Failure to th... OMIM:619239
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,... ORPHA:1517
19P13.12 Microdeletion Syndrome
Short neck, Short palm, Conductive hearing impairment, Clinodactyly of the 5th finger, Atrial sep... ORPHA:254346
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Cerebrofacioarticular Syndrome
Syndactyly, Anal stenosis, Irregular dentition, Hypospadias, Tracheomalacia, Micrognathia, Hypopl... ORPHA:314679
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micromelia, Micrognathia, Short neck, High, narrow palate, Epispadias, Abnor... ORPHA:3107
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Weakness of long finger extensor muscles, Upper limb muscle weakness, Hi... ORPHA:98913
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Renal insufficiency, Failure to thrive, Protruding tongue, Cryptorchidism, O... ORPHA:96147
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Respiratory distress, Hyperparathyroidism, Short femur, Metaphyseal ... OMIM:618188
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Missing ribs, Micrognathia, Humeroradial synostosis, Sho... OMIM:251230
Agel Amyloidosis
Tongue atrophy, Cataract, Proteinuria, Facial palsy, Respiratory tract infection, Xerostomia, Sta... ORPHA:85448
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Craniosynostosis 6
Sensorineural hearing impairment, Spina bifida occulta, Scoliosis OMIM:616602
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Micrognathia, Epispadias, Preaxial polydactyly, Aplasia of the epiglotti... OMIM:615948
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe... OMIM:617127
Omodysplasia 2
Tented upper lip vermilion, Micrognathia, Clitoral hypoplasia, Limited elbow flexion, Clinodactyl... OMIM:164745
Coffin-Siris Syndrome 12
Micrognathia, Protruding ear, High palate, Patent foramen ovale, Hypothyroidism, Simple ear, Hypo... OMIM:619325
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Intestinal pseudo-obstruction, A... ORPHA:73246
Hypoglossia With Situs Inversus
Respiratory distress, Micrognathia, Situs inversus totalis, Upper airway obstruction, High palate... OMIM:612776
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Sensorineural hearing impairment, Hydroureter, Hydronephrosis, Pulmonic stenosis OMIM:264140
Van Maldergem Syndrome 1
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... OMIM:601390
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Thin upper lip vermilion, Bicuspid aortic valve, Hypospadias, Metatarsus ad... OMIM:611962
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Abnormal finger morphology, Abnormal lung lobation, Atrial septa... ORPHA:2538
Osteogenesis Imperfecta, Type I
Otosclerosis, Biconcave flattened vertebrae, Hearing impairment, Femoral bowing, Mitral valve pro... OMIM:166200
Cerebrofaciothoracic Dysplasia
Low-set, posteriorly rotated ears, Short neck, Cleft upper lip, Rib fusion, Hemivertebrae, Cleft ... ORPHA:1394
Arms, Malformation Of
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius OMIM:107900
Hydrolethalus
Low-set, posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polyd... ORPHA:2189
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Thin upper lip vermilion, Tapered finger, Gingival overgrowth, Hip dysplasia, M... OMIM:616977
Cardiac Valvular Dysplasia 2
Ascending tubular aorta aneurysm, Pulmonary artery dilatation OMIM:620067
Cog5-Cdg
Neurogenic bladder, Posteriorly rotated ears, Camptodactyly of finger, Urinary incontinence, Shor... ORPHA:263487
Weill-Marchesani Syndrome 3
Ectopia lentis, Microspherophakia, Shallow anterior chamber, Pulmonic stenosis, Aortic valve sten... OMIM:614819
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Skeletal muscle atrophy, Arachnodactyly, Kyphoscoliosis, Progeroid facial appearance, P... ORPHA:75496
Rabin-Pappas Syndrome
Mandibular prognathia, Retinal detachment, Hypoventilation, Cataract, Failure to thrive in infanc... OMIM:620155
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Proximal placement of thumb, Glandular hypospadias, High palate, Thickened helices, Clinodactyly ... OMIM:604314
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Noonan Syndrome 14
Scapular winging, Posteriorly rotated ears, Short neck, Pectus excavatum, High, narrow palate, Cr... OMIM:619745
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Renal cyst, Vertebral segmentation defect, Clinodactyly ... OMIM:272460
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cr... OMIM:249270
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Intellectual Developmental Disorder, Autosomal Dominant 68
Broad hallux, Urinary incontinence, Posteriorly rotated ears, Patent ductus arteriosus, Narrow pa... OMIM:619934
Joubert Syndrome 37
Decreased testicular size, Lumbar hyperlordosis, Posteriorly rotated ears, Postaxial polydactyly,... OMIM:619185
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Conductive hea... ORPHA:79113
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Dental crowding, Hiatus hernia, Persistence of primary teeth, Overweig... OMIM:619769
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... ORPHA:1896
Restrictive Dermopathy
Ureteral duplication, Multiple joint contractures, Micrognathia, Atrial septal defect, Hypospadia... ORPHA:1662
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, O... OMIM:615633
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Card... ORPHA:2463
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Micrognathia, Pectus excavatum, Hiatus ... OMIM:617729
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hypospadias, Abnormal dental morphology, Micrognathia, Pectus excav... ORPHA:2522
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Abnormal pinna morphology, Hyperlordosis, Wide anterio... ORPHA:26791
Paternal Uniparental Disomy Of Chromosome 6
Neonatal respiratory distress, Ventricular septal defect, Neonatal insulin-dependent diabetes mel... ORPHA:96191
Lujo Hemorrhagic Fever
Respiratory distress, Renal insufficiency, Crackles, Myocarditis, Atelectasis, Nonproductive coug... ORPHA:319213
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Posteriorly rotated ears, Mic... OMIM:201170
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, Abnormal rib... ORPHA:2180
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Abnormal pinna morphology, Short neck, Orofacial cleft, Wide mouth, Col... OMIM:614583
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Hypospadias, Pyloric stenosis, Patent ductus arteriosus, Cryptorchidis... OMIM:218350
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Communicating hydrocephalus, Short fourth metatarsal, Septo-optic dysplasi... OMIM:619841
Distal Deletion 3P
Low-set, posteriorly rotated ears, Sacral dimple, Micrognathia, Short neck, Cryptorchidism, Posta... ORPHA:1620
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney, Delayed puberty, Hypertrophic cardiomyopathy, Failure to ... ORPHA:369
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Downturned corners of mouth, High palate, Narrow chest, Widely spaced teeth, Bil... OMIM:618268
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary... ORPHA:199241
Gm1 Gangliosidosis Type 1
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Aspiration pneumonia, Cherry red ... ORPHA:79255
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Neuropathic spinal arthropathy, Dental crowding, Kyphoscoliosis, Patent ductus arteriosus, Sensor... ORPHA:397709
Congenital Myopathy 12
Death in infancy, Arachnodactyly, Small for gestational age, Respiratory insufficiency due to mus... OMIM:612540
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Death in infancy, Intestinal obstruction, Cataract, Small for ge... OMIM:601675
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation, Thoracic scoliosis, Sensorineural hearing impairment, Optic atrophy, Decreased c... OMIM:606056
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Calf muscle pseudohypertrophy, Cataract, Hypoglycosylation of alpha-dystrogly... ORPHA:370959
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Precocious puberty, Narrow mouth, Delayed eruption of permanent teeth, Short distal... OMIM:619356
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Hydranencephaly, Truncus arte... OMIM:601355
Vici Syndrome
Micrognathia, Abnormal thymus morphology, High palate, Atrial septal defect, Decreased circulatin... OMIM:242840
Nestor-Guillermo Progeria Syndrome
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Right atrial enlargem... OMIM:614008
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Downturned corners of mouth, ... OMIM:618347
Oculogastrointestinal Neurodevelopmental Syndrome
Sacral dimple, Bicuspid aortic valve, Hemivertebrae, Horseshoe kidney, Coloboma, Vaginal fistula,... OMIM:619318
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Aganglionic megacolon, Tapered finger, Hypoplasia of the maxilla, Shor... OMIM:609460
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Secretory diarrhea... OMIM:619377
Warsaw Breakage Syndrome
Ventricular septal defect, Single transverse palmar crease, Cutis marmorata, Hypoplasia of the co... OMIM:613398
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Spondylosis, Cervical
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis OMIM:184300
Autosomal Dominant Cutis Laxa
Protruding ear, Abnormal curvature of the vertebral column, Emphysema, Prematurely aged appearanc... ORPHA:90348
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Dental crowding, High, narrow palate, Rec... OMIM:309800
Melas
Intestinal pseudo-obstruction, Ragged-red muscle fibers, Nephropathy, Abnormal mitochondria in mu... ORPHA:550
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Epiphyseal dysplasia, Respiratory failure requiring assisted ventilati... ORPHA:1675
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Corneal arcus, Proteinuria, Foam cells OMIM:245900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Retinal detachment, Skeletal muscle atrophy, Cataract, Spinal rigidity, Hydrocepha... OMIM:253800
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Downturned corners of mout... OMIM:619950
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Micrognathia, Short philtrum, Clinodactyly of the 5th finger, Bi... OMIM:301022
Neonatal Adrenoleukodystrophy
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Wide anterior f... ORPHA:44
Hamel Cerebro-Palato-Cardiac Syndrome
Death in infancy, Arachnodactyly, Micrognathia, Cupped ear, Cleft palate, Narrow mouth, Atrial se... ORPHA:93946
Grant Syndrome
Bowing of the long bones, Micrognathia, Open bite, Abnormal rib morphology, Abnormal pelvic girdl... ORPHA:2097
Cohen-Gibson Syndrome
Cataract, Coxa valga, Hypoplastic iliac wing, Long fingers, Patent ductus arteriosus, Cryptorchid... OMIM:617561
Bainbridge-Ropers Syndrome
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... OMIM:615485
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Epiphyseal dysplasia, Congenital hip dislocation, Cataract, Micrognathia, Optic atrop... OMIM:617913
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:601927
Marshall-Smith Syndrome
Bowing of the long bones, Failure to thrive, Protruding tongue, Optic atrophy, Gingival overgrowt... ORPHA:561
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Dextrocardia, Intestinal malrotation, Missing ribs, Diastomatomyelia, Me... ORPHA:1759
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation... ORPHA:2847
Epidermal Nevus Syndrome
Aortic aneurysm ORPHA:35125
Ck Syndrome
Long toe, Microretrognathia, Lumbar hyperlordosis, Posteriorly rotated ears, Dental crowding, Kyp... ORPHA:251383
Ververi-Brady Syndrome
Smooth philtrum, Thin upper lip vermilion, Cupped ear, Wide mouth, High palate, Transposition of ... OMIM:617982
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Underdeveloped superior crus of antihelix, Posteriorly rotated ears, A... ORPHA:369950
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... OMIM:300232
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Narrow palm, Small hand, Obesity, Sho... ORPHA:177910
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Sandal gap, Abnormal dental enamel morphology, Supernumerary nipple, Pectus ... ORPHA:1812
Prune Belly Syndrome
Congenital hip dislocation, Hydroureter, Pectus excavatum, Cryptorchidism, Patent ductus arterios... OMIM:100100
Galloway-Mowat Syndrome 5
Mandibular prognathia, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:617731
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm
Celiac artery compression OMIM:116870
Wrinkly Skin Syndrome
Congenital hip dislocation, Neonatal wrinkled skin of hands and feet, Coxa vara, High palate, Mic... OMIM:278250
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Mitral valve prolapse, S... OMIM:211960
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Back pain, Bicuspid aortic valve, Single transverse palmar crease, High, narrow pa... OMIM:619475
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali... ORPHA:2491
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Narrow greater sciatic notch, Hyp... OMIM:608940
Hypermobile Ehlers-Danlos Syndrome
Apnea, Venous insufficiency, Abnormality of the gingiva, Gingivitis, Microdontia, Abnormality of ... ORPHA:285
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Cryp... ORPHA:1465
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Exaggerated cupid's bow, Single transverse palmar crease, Supernumerary nipple, Cleft lip, Deep p... OMIM:620098
Genitopatellar Syndrome
Congenital hip dislocation, Small scrotum, Micrognathia, Knee flexion contracture, Anteriorly pla... OMIM:606170
Branchial Arch Syndrome, X-Linked
High, narrow palate, Cryptorchidism, Protruding ear, High palate, Pulmonic stenosis, Low-set ears... OMIM:301950
Wagro Syndrome
Mandibular prognathia, Decreased testicular size, Cataract, Corneal opacity, Proteinuria, Dental ... OMIM:612469
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Short thumb,... OMIM:612562
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Micrognathia, Metaphyseal cho... OMIM:250410
Johnson Neuroectodermal Syndrome
Failure to thrive, Facial palsy, Carious teeth, Preaxial hand polydactyly, Cleft palate, Protrudi... ORPHA:2316
Chromosome 1Q41-Q42 Deletion Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Deep philtrum, Vertebral segmentatio... OMIM:612530
Fetal Encasement Syndrome
Bilateral trilobed lung, Congenital diaphragmatic hernia, Upper limb undergrowth, Horseshoe kidne... OMIM:613630
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Respiratory insufficiency, Thin ribs, Blind... ORPHA:456328
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Small for gestational age, Cor pulmonale, Nephrotic syndrome, Mucopolysacchariduria,... OMIM:215250
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata,... OMIM:100300
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Atrial septal defect, ... OMIM:263520
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Secundum atrial septal defect, Pie... OMIM:620183
Alkaptonuria
Coronary artery calcification, Aortic aneurysm OMIM:203500
Phelan-Mcdermid Syndrome
Sacral dimple, Ventricular septal defect, Abnormality of the kidney, Micrognathia, Patent ductus ... OMIM:606232
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Failure to thrive, Ventricular septal defect, Overweight, High,... OMIM:619575
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Inflammation of the large intestine, Colitis OMIM:614700
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, Beta 2-microg... OMIM:611555
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Brachydactyly, Ventricular septal defect, Abnormality of the p... ORPHA:1770
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Microretrognathia, Cataract, Hypospadias, Small for gestational age, Cryptorchidism, Respiratory ... OMIM:614052
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Pectus carinatum, Knee flexion contracture, Downturned corners of mouth, Clinodactyly of the 5th ... ORPHA:488642
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Pneumonia, Recurrent upper respiratory tract infections, Decreas... OMIM:614069
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Transaldolase Deficiency
Abnormality of the kidney, Abnormal respiratory system physiology, Coarctation of aorta, Biventri... ORPHA:101028
Poems Syndrome
Papilledema, Diabetes mellitus, Pericardial effusion, Metaphyseal sclerosis, Abnormality of the e... ORPHA:2905
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Decreased circulating antibody level, Atrial septal defect, Recurrent lowe... OMIM:617744
Noonan Syndrome 7
Thickened helices, Short neck, Pectus excavatum, Large for gestational age, Pectus carinatum, Shi... OMIM:613706
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis, Hearing impairment OMIM:178651
Erdheim-Chester Disease
Renal insufficiency, Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Dysuria, Dys... ORPHA:35687
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Transient ischemic attack, Supernumerary nipple, Short neck, Li... OMIM:600268
Neurofibromatosis-Noonan Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Abnormal thorax morphology, Pulmonic stenosis,... ORPHA:638
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongue,... OMIM:616546
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Mesangial hypercellularity, Abnormal lung morphology, Pa... ORPHA:91139
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Posteriorly rotated ears, Congenital diap... ORPHA:1780
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proteinuria, Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Downturned corners ... ORPHA:2774
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology ORPHA:3222
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Death in infancy, Hydroureter, Wide anterior fontanel, Respiratory failure, Hy... OMIM:618240
Usher Syndrome Type 1
Cataract, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea m... ORPHA:231169
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Recurrent respiratory infections, Decreased circulating IgG level, Cardi... OMIM:618278
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Cataract, Posteriorly rotated ears, Micromelia... OMIM:224410
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Mixed hearing impairmen... OMIM:614557
Achondrogenesis Type 1B
Micromelia, Micrognathia, Short neck, Short thorax, Abnormal rib morphology, Short foot, Aplasia/... ORPHA:93298
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Tongue fasciculations, ... ORPHA:238329
Central Core Disease
Neonatal respiratory distress, Multiple joint contractures, Congenital hip dislocation, Kyphoscol... ORPHA:597
Holoprosencephaly 14
Median cleft lip, Ventricular septal defect, Cyclopia, Alobar holoprosencephaly, Aqueductal steno... OMIM:619895
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Aa Amyloidosis
Proteinuria, Abnormal oral mucosa morphology, Abnormality of the kidney, Malabsorption, Chronic k... ORPHA:85445
Orofaciodigital Syndrome Type 1
Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Chronic otitis media... ORPHA:2750
Cleidocranial Dysplasia 1
Respiratory distress, Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuse... OMIM:119600
Carnitine Deficiency, Systemic Primary
Respiratory distress, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Myopathy, Reduced musc... OMIM:212140
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Ventricular septal defect, U... OMIM:613680
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Protruding ear... OMIM:613458
Microphthalmia, Syndromic 6
Small scrotum, Single transverse palmar crease, Sclerocornea, Micrognathia, Uplifted earlobe, Adr... OMIM:607932
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Downturned cor... OMIM:620186
Orofaciodigital Syndrome Xix
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Broad hallux, Cleft soft... OMIM:620107
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Bowed humerus, Corneal opacity, Sclerocornea, Micrognathia, Recu... OMIM:609465
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... OMIM:200600
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... OMIM:129900
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atro... ORPHA:254875
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Clinodac... OMIM:619981
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Ground-... OMIM:619773
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Pulmonic stenosis... OMIM:613312
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Proteinuria, Pneumonia, Decreased response to g... ORPHA:1855
Pmm2-Cdg
Mandibular prognathia, Respiratory distress, Multiple joint contractures, Elevated circulating th... ORPHA:79318
Oculodentodigital Dysplasia
Selective tooth agenesis, Uveitis, Microcornea, High palate, Joint contracture of the 5th finger,... OMIM:164200
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus... OMIM:300048
Retinitis Pigmentosa 89
Retinal thinning, Bicuspid aortic valve, Postaxial polydactyly, Esophageal varix, Hyperautofluore... OMIM:618955
Holoprosencephaly 2
Median cleft lip and palate, Remnants of the hyaloid vascular system, Aplasia of the premaxilla, ... OMIM:157170
Peho Syndrome
Tented upper lip vermilion, Tapered finger, Optic atrophy, Open mouth, Retrognathia OMIM:260565
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Abnormal lung lobation, Femoral bowing, Stillbirth, A... OMIM:615415
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Diffuse palmoplantar hyperkeratosis, Acrocyanosis ORPHA:86918
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Arachnodactyly, Camptoda... ORPHA:2994
Stevenson-Carey Syndrome
Recurrent urinary tract infections, Posteriorly rotated ears, Central hypoventilation, Narrow mou... OMIM:611961
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalci... ORPHA:251274
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Respiratory ... ORPHA:1461
17Q11 Microdeletion Syndrome
Bowing of the legs, Abnormal internal carotid artery morphology, Abnormal lung morphology, Elevat... ORPHA:97685
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Pulmonary embolism, Increased pulmonary vascular resistance, Obesity, Rig... ORPHA:70591
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Peroxisome Biogenesis Disorder 3A (Zellweger)
Wide anterior fontanel, Epiphyseal stippling, Low-set ears, Polycystic kidney dysplasia, Vascular... OMIM:614859
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Abnormal pinna morphology, Supernumerary nipple, Secundum atrial septal defect, Cryp... OMIM:618109
Cutis Laxa, Autosomal Recessive, Type Ia
Ascending tubular aorta aneurysm, Vascular tortuosity OMIM:219100
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Dubowitz Syndrome
Single transverse palmar crease, Micrognathia, Protruding ear, Hypoplasia of the iris, High palat... OMIM:223370
X-Linked Intellectual Disability, Armfield Type
Mandibular prognathia, Cataract, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Abnormal... ORPHA:85276
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Tethered cord, Sensorineural hearing impairment, Submucous cleft hard pala... OMIM:617660
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Ventr... ORPHA:1782
Chromosome 13Q14 Deletion Syndrome
Single transverse palmar crease, Micrognathia, Anteverted ears, Deep philtrum, High palate, Holop... OMIM:613884
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Single transverse palmar crease, Diastasis recti, Exaggerated cupid's ... ORPHA:254528
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Hyperphosphaturia, Corneal opacity, Kyphoscoliosis, Abnormal toe mor... OMIM:163200
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Small scrotum, Short neck, Protruding ear, High palate, Bifid uvula, Umbil... OMIM:620330
3Q29 Microduplication Syndrome
Toe syndactyly, Ventricular septal defect, Sandal gap, Sclerocornea, Cataract, Short neck, Abnorm... ORPHA:251038
Timothy Syndrome
Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothy... OMIM:601005
Geleophysic Dysplasia 1
Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Pectus excavatum, Hypoplasia of the capi... OMIM:231050
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Sensorineural he... ORPHA:2596
Linear Skin Defects With Multiple Congenital Anomalies 1
Single transverse palmar crease, Sclerocornea, Congenital diaphragmatic hernia, Anteriorly placed... OMIM:309801
Macs Syndrome
Dilation of Virchow-Robin spaces, Aortic aneurysm OMIM:613075
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Cubitus valgus... OMIM:269300
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Multiple joint contractures, Knee flexion contracture, Microphallus, Pelvi... ORPHA:468631
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Skeletal muscle atr... OMIM:616716
Toluene Embryopathy
Micrognathia, Tapered finger, Cryptorchidism, Abnormal localization of kidney, Protruding ear, Th... ORPHA:1920
Opitz Gbbb Syndrome
Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Posteriorly ro... OMIM:300000
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Abnormal tibia morphology, Orofacial cleft, Abnormal sternum mor... ORPHA:1335
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Hypoplasia of penis, Skeletal muscle atrophy, Hypogonadotropic hypogon... ORPHA:3068
Xfe Progeroid Syndrome
Renal insufficiency, Failure to thrive, Proteinuria, Prematurely aged appearance, Hearing impairm... OMIM:610965
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Ventricular septal defect, Abnormality of the dentition, Kyphosis, Upp... OMIM:169400
Nablus Mask-Like Facial Syndrome
Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, High palate, Small earlob... OMIM:608156
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Micrognathia, Pectus excavatum, Dyspnea, Patent ductus arteriosus, Thick l... ORPHA:555877
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Acrocallosal Syndrome
Abnormal clavicle morphology, Hypospadias, Congenital diaphragmatic hernia, Wide anterior fontane... ORPHA:36
Transketolase Deficiency
Increased level of ribose in urine, Cataract, Ventricular septal defect, Abnormal coronary artery... ORPHA:488618
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Coxa vara, Mitral va... ORPHA:2848
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Chorioretinal coloboma, ... OMIM:107480
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Tachyp... ORPHA:70587
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Myofiber disarray, Myopathy, High palate, Increased varia... OMIM:604377
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Failure to thrive in infancy, Ankle flexion contracture, Micrognathia, Sh... ORPHA:284417
Gaba-Transaminase Deficiency
Retrognathia, Death in childhood OMIM:613163
Lissencephaly, X-Linked, 2
Thin upper lip vermilion, Micrognathia, Long upper lip, Wide anterior fontanel, High palate, Low-... OMIM:300215
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, Optic atrophy, ... ORPHA:436271
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Micrognathia, Ectopic kidney, Cleft upper lip, Abnorma... OMIM:601076
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Aqueductal stenosis, Fetal pyele... OMIM:619512
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... OMIM:606763
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Renal agenesis, Congenital diaphragmatic hernia, Micr... OMIM:273395
D-Bifunctional Protein Deficiency
Decreased muscle mass, Failure to thrive, Micrognathia, Pectus excavatum, Decreased nerve conduct... OMIM:261515
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Maternal diabetes, Atelectasis... ORPHA:70588
Chromosome 17Q12 Deletion Syndrome
Mandibular prognathia, Micrognathia, Renal cyst, Protruding ear, High palate, Short palm, Long to... OMIM:614527
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior fontanel, He... ORPHA:2021
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Short neck, Downturned corners of mouth, Short palm, Conductive ... ORPHA:1001
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Failure to thrive, Retinal dystrophy, Short neck, Secundum atrial septal... OMIM:615802
Gorham-Stout Disease
Abnormality of the cervical spine, Abnormality of the temporomandibular joint, Abnormal pelvis bo... ORPHA:73
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Familial Multiple Lipomatosis
Bowing of the long bones, Odontogenic keratocysts of the jaw, Chorioretinitis, Coloboma, Abnormal... ORPHA:199276
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Macrotia, Cleft palate, Femora... OMIM:616462
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... OMIM:604292
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Death in infancy, Failure to thrive in infancy, Cardiomegaly, Wide anterior fontanel, Death in ch... OMIM:619064
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cataract, Cyanosis, Apnea, Cardiomegaly, Pericardial effusion, Hydrocephalu... OMIM:261740
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Nephrocalcinosis, Premature gra... ORPHA:769
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Optic atrophy, Tachypnea, Respira... OMIM:614299
Trichohepatoenteric Syndrome 1
Villous atrophy, Failure to thrive, Ventricular septal defect, Hypospadias, Small for gestational... OMIM:222470
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Telangiectasia of the skin, Abnormal cerebral vascular morpholog... ORPHA:758
Hypomandibular Faciocranial Dysostosis
Death in infancy, Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Patent duct... ORPHA:1790
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Dysuria, Abnormal pl... ORPHA:537
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Mitral valve prolapse, Platyspondyly, Oligodont... OMIM:601216
Aapoaiv Amyloidosis
Back pain, Diabetes mellitus, Proteinuria, Cardiac amyloidosis, Abnormal renal medulla morphology... ORPHA:439232
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Precocious puberty, Oligozoospermia, Increased circulating cortisol level, O... ORPHA:786
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Noncompaction cardiomyopathy, Short metacarpal, Cataract, Short humeru... ORPHA:508542
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger, Clinodact... OMIM:101400
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Homocystinuria, Ectopia lentis, Pectus exca... OMIM:601552
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Moderate albuminuria, Short toe, Sensorineural hearing impairment, Asthma, Ob... OMIM:619269
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Specc1L-Related Hypertelorism Syndrome
Ectopic kidney, Orofacial cleft, Clinodactyly of the 5th finger, Atrial septal defect, Advanced e... ORPHA:1519
Microcephaly 26, Primary, Autosomal Dominant
Protruding tongue, Recurrent pneumonia, Gingival overgrowth, Scoliosis, Long philtrum, Failure to... OMIM:619179
Orofaciodigital Syndrome Type 10
Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o... ORPHA:2756
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Johanson-Blizzard Syndrome
Single transverse palmar crease, Anteriorly placed anus, Downturned corners of mouth, Death in ch... OMIM:243800
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Isolated Right Ventricular Hypoplasia
Cyanosis, Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Clubbing, Hypoxemia, Atrial ... ORPHA:439
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Hereditary Acrokeratotic Poikiloderma
Abnormality of the urethra, Xerostomia, Palmoplantar hyperkeratosis, Gingivitis, Finger syndactyl... ORPHA:2907
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Renal malrotation, Ventricular septal defect, Bowing of the legs, Large for gest... OMIM:617107
Restrictive Dermopathy 2
Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Ove... OMIM:619793
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia/Hypoplasia of the tongue, Micrognathia, Aplasia of... ORPHA:1358
Aicardi-Goutieres Syndrome 9
Pericarditis, Renal insufficiency, Proteinuria, Recurrent urinary tract infections, Pericardial e... OMIM:619487
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongu... ORPHA:2167
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S... ORPHA:85167
Cerebrocostomandibular Syndrome
Death in infancy, Multicystic kidney dysplasia, Hydranencephaly, Ventricular septal defect, Neona... ORPHA:1393
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Cataract, Proteinuria, Diabetes mellitus, Cle... ORPHA:33001
Legius Syndrome
Cataract, Non-small cell lung carcinoma, Nephrolithiasis, Mitral valve prolapse, Diaphyseal dyspl... ORPHA:137605
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal thorax morphology, Abnormal l... ORPHA:50251
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Malabsor... ORPHA:452
Craniolenticulosutural Dysplasia
High palate, Narrow chest, Bifid uvula, Wide anterior fontanel, Punctate cataract, Cryptorchidism... OMIM:607812
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Sinusitis, Micrognathia, Malar prominence, Deep philtrum, Premature ... OMIM:251260
Cardiospondylocarpofacial Syndrome
High, narrow palate, Abnormal form of the vertebral bodies, Mitral valve prolapse, Short palm, Co... ORPHA:3238
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Prominent superficial veins, Femur fracture, Delayed eruptio... OMIM:619322
Bent Bone Dysplasia Syndrome 2
Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia, Micropenis... OMIM:620076
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Micrognathia, H... OMIM:618021
Sneddon Syndrome
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Cutis marmorata, Livedo reticularis, Li... OMIM:182410
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal... OMIM:616866
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Hypothyroidism, Hypoparathyroi... ORPHA:699
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Abnormality of retinal pigmentation, Camptodactyly of finger, Micrognathia... ORPHA:2521
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Alström Syndrome
Respiratory distress, Thoracic scoliosis, Abnormality of dental color, Urinary incontinence, Decr... ORPHA:64
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Optic disc pallor, Death in infancy, Skeletal muscle atrophy, Hyp... OMIM:252010
Gomez-Lopez-Hernandez Syndrome
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Wide anterior fo... OMIM:601853
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Hydranencephaly, Single transverse palmar crease, Short neck, 2-3 toe syndacty... OMIM:236500
Bloom Syndrome
Bronchitis, Micrognathia, Uveitis, Otitis media, Stomach cancer, Decreased circulating IgG level,... ORPHA:125
Deeah Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Short neck,... OMIM:619004
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... OMIM:601357
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Hypertr... ORPHA:444013
Eisenmenger Syndrome
Respiratory distress, Renal insufficiency, Cyanosis, Ventricular septal defect, Increased pulmona... ORPHA:97214
Proteus Syndrome
Central heterochromia, Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Abnorma... ORPHA:744
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Malabsorption ORPHA:100025
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Tethered cord, Posteriorly rotated ears, Exaggerated cupid's bow, Spina bifida, Tape... OMIM:619480
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... ORPHA:1071
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Absent external genitalia, Short neck, Rib fusio... OMIM:271520
Loeys-Dietz Syndrome
Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Vascular d... ORPHA:60030
Hypotonia-Cystinuria Syndrome
Failure to thrive, Retrognathia, Nephrolithiasis, Cystinuria ORPHA:163690
Monosomy 13Q34
Posteriorly rotated ears, Metrorrhagia, Epistaxis, Micrognathia, Postaxial hand polydactyly, Feta... ORPHA:96168
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Natal tooth, Respiratory distress, Overlapping toe, Hypospadias, Posteriorly rotat... OMIM:123790
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Communicating hydrocephalus, Thickened ribs, Short neck, Pectus carinatum,... ORPHA:309282
Kawasaki Disease
Glossitis, Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Recurrent pha... ORPHA:2331
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Micrognathia, Short neck, Large for gestational age, Flexion contracture, Knee flexion contractur... OMIM:300868
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Seckel Syndrome 10
Ventricular hypertrophy, Retinal detachment, Microretrognathia, Diabetes mellitus, Elevated circu... OMIM:617253
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Patent ductus ar... OMIM:617260
Smith-Kingsmore Syndrome
Smooth philtrum, Thin upper lip vermilion, Rhizomelia, Diastasis recti, Large for gestational age... OMIM:616638
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Hypergonadotropic hypogonadism, Sensorineural hearing impai... OMIM:607426
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t... OMIM:271665
Hand-Foot-Genital Syndrome
Proximal placement of thumb, Abnormality of the urethra, Abnormality of the uterus, Vesicouretera... ORPHA:2438
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Micrognathia, Biliary hyperplasia, Aminoaciduria, Protein-losing... OMIM:619991
Chromosome 15Q25 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic her... OMIM:614294
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elbow contracture, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Atrial ... OMIM:618162
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Umbilical hernia, Pneumonia OMIM:254120
Pulmonary Arteriovenous Malformation
Cyanosis, Transient ischemic attack, Epistaxis, Cough, Dyspnea, Clubbing, Pulmonary arteriovenous... ORPHA:2038
Dysosteosclerosis
Micrognathia, Absent frontal sinuses, Increased intervertebral space, Hypoplastic vertebral bodie... OMIM:224300
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Cutis marmorata, Esophageal varix, Renal hypoplasia, Foot ... OMIM:616589
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer... ORPHA:449395
Autosomal Recessive Spastic Paraplegia Type 77
Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, Kyphoscoliosis, Sudden ... ORPHA:466722
Auriculocondylar Syndrome
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, M... ORPHA:137888
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Micrognathia, Short neck, High, narrow palate, Hydrocephalus, Ileus, Congenital contracture, High... OMIM:620156
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Pulmonary cyst, Micrognathia, Pectus excavatum, Wide anterior fontanel, Kyphosis, ... OMIM:618272
Pontine Tegmental Cap Dysplasia
Facial palsy, Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Scoliosis, Aspiration,... OMIM:614688
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Duplicated collecting system, Ventricular septal defect, Posteriorly rotated ears, Short neck, La... OMIM:607721
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Thin upper lip vermilion, Recurrent respiratory infections, External genita... ORPHA:329178
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Narrow mouth, Split hand... OMIM:246560
Osteopetrosis With Renal Tubular Acidosis
Micrognathia, Cranial nerve compression, High palate, Conductive hearing impairment, Prominence o... ORPHA:2785
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Cystinosis, Nephropathic
Skeletal muscle atrophy, Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecul... OMIM:219800
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Overlapping toe, Apnea, Flexion contracture, Optic atrophy, Hip dislocation, Elb... OMIM:617301
Wieacker-Wolff Syndrome, Female-Restricted
Urinary incontinence, Short neck, Flexion contracture, Downturned corners of mouth, Narrow chest,... OMIM:301041
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Cataract, Rhizomelia, Micrognathia, Brachioradialis areflexia, Trismus, Fle... OMIM:616271
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Den Hoed-De Boer-Voisin Syndrome
Widely spaced teeth, Decreased body weight, Amelogenesis imperfecta, Overweight, 2-3 toe syndacty... OMIM:619229
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Abnormal odontoid process morphology, Short neck, Pectus excavatum, Cl... OMIM:609654
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Chronic diarrhea OMIM:606367
Papillorenal Syndrome
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... OMIM:120330
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Kyphosis, Thin ribs, Tibial bowing, Sl... OMIM:259420
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Death in infancy, Thickened ribs, Abnormal heart valve morphology, S... OMIM:230500
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... OMIM:609616
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Underfolded helix, Abnormal pinna morphol... ORPHA:178303
Lethal Congenital Contracture Syndrome Type 1
Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Micrognathia, Short neck, Abnormality... ORPHA:1486
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Abnormal preputium morpho... ORPHA:293725
Meacham Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormal lung lobation, Conotruncal defect,... ORPHA:3097
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent duc... OMIM:619909
Legionnaires Disease
Pericarditis, Renal insufficiency, Proteinuria, Abnormal pleura morphology, Myocarditis, Abnormal... ORPHA:549
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Renal cys... OMIM:113620
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... OMIM:617205
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Dental crowding, Short neck, Rectal prolapse, Short metatarsal, High palate, Short metacarpal, Te... OMIM:617157
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Geleophysic Dysplasia 2
Thin upper lip vermilion, Tricuspid stenosis, Ovoid vertebral bodies, Respiratory insufficiency, ... OMIM:614185
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Renal insufficiency, Cataract, Mitral valve prolapse, Nephropathy, Hypothyroi... ORPHA:1563
Phocomelia, Schinzel Type
Hypoplasia of penis, Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia mo... ORPHA:2879
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Short femur, Cardiomegaly, Pneumothorax, Glandular hypospadias, Talipes equ... OMIM:620306
Immunodeficiency 31C
Villous atrophy, Diarrhea, Gastrointestinal eosinophilia, Protein-losing enteropathy, Intussuscep... OMIM:614162
Kyphomelic Dysplasia
Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Pterygium, Short ... OMIM:211350
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch ORPHA:2248
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Hypospadias, Cleft soft palate, Micrognathia, Short neck, Crypt... ORPHA:2282
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Short neck, Pectus excavatum, Wide mouth, Pulmonic stenosis, Scoliosis... OMIM:615279
Achondrogenesis Type 1A
Multiple rib fractures, Micromelia, Micrognathia, Short neck, Short thorax, Short foot, Aplasia/H... ORPHA:93299
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Rothmund-Thomson Syndrome Type 2
Patellar hypoplasia, Facial erythema, High palate, Microdontia, Juvenile cataract, Short phalanx ... ORPHA:221016
Bor Syndrome
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Abnormality of t... ORPHA:107
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Myasthenic Syndrome, Congenital, 19
Barrel-shaped chest, Facial palsy, Micrognathia, Spinal rigidity, Respiratory insufficiency, Pect... OMIM:616720
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis OMIM:185500
Tularemia
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Oral ulcer, Pulmona... ORPHA:3392
Meier-Gorlin Syndrome 3
Small scrotum, Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow ch... OMIM:613803
Multifocal Atrial Tachycardia
Ventricular septal defect, Cryptorchidism, Hypothyroidism, Tachypnea, Dyspnea, Pulmonic stenosis,... ORPHA:3282
Intellectual Developmental Disorder, Autosomal Recessive 78
Microretrognathia, Optic neuropathy, Kyphoscoliosis, Pectus excavatum, Sensorineural hearing impa... OMIM:620237
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Decreased sensory nerve conduction veloci... OMIM:615273
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Flexion contracture, Abnormality of the male gen... ORPHA:847
Free Sialic Acid Storage Disease
Recurrent respiratory infections, Proteinuria, Failure to thrive in infancy, Aplasia/Hypoplasia o... ORPHA:834
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Decreased specific pneumococcal antibody level, Glomerulonephri... OMIM:613496
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... OMIM:620011
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Corneal opacity, Proteinuria, Micromelia, Ulnar bowing, Madelung deformity, Hematu... ORPHA:1765
Hematuria, Benign Familial, 2
Sensorineural hearing impairment, Microscopic hematuria, Proteinuria, Abnormal glomerular basemen... OMIM:620320
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... OMIM:601356
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Uveitis, Developmental cataract, Atrial sept... OMIM:617044
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, External genital hypoplasia, High, narrow palate, Epispadias, Abnormal fin... ORPHA:2658
Cystinosis
Renal insufficiency, Corneal opacity, Proteinuria, Malabsorption, Nephrogenic diabetes insipidus,... ORPHA:213
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob... ORPHA:411703
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... ORPHA:330015
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Micrognathia, Renal cyst, Narrow chest, Absent or minimally ossi... ORPHA:93271
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Progeroid facial appearance, Myopathy, Microscopic hematuria, Hearin... ORPHA:79087
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Uveitis, Conjunctivitis, Abnormal vertebral morphology, Abnormal dental enamel morphology, Abnorm... ORPHA:2273
Rothmund-Thomson Syndrome Type 1
Patellar hypoplasia, Facial erythema, Microdontia, Juvenile cataract, Short phalanx of finger, Hy... ORPHA:221008
Grange Syndrome
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm ORPHA:79094
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... OMIM:265120
Orofaciodigital Syndrome Type 14
Microretrognathia, Low-set, posteriorly rotated ears, Broad hallux, Ventricular septal defect, De... ORPHA:434179
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Proteinuria, Primary amenorrhea, Bicornuate uterus, Bilateral renal agenesis, Ta... OMIM:191830
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology... ORPHA:2633
Short Syndrome
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal dental enamel morphology, Abn... ORPHA:3163
Autosomal Recessive Cutis Laxa Type 2A
Congenital hip dislocation, Corneal opacity, Progeroid facial appearance, Wide anterior fontanel,... ORPHA:357058
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Sacral dimple, Ventricular septal defect, Dextrotransposition of the great arteries, Lower limb h... OMIM:619995
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Anisocoria, Cl... OMIM:181270
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta OMIM:616069
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Abnormal pulmonary interstitial morphology, Weight loss, Nephro... ORPHA:330001
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi... ORPHA:308552
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Mandibular prognathia, Hypospadias, Micromelia, Hypoplasia of the radius, Nonopposable triphalang... ORPHA:2252
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Micrognathia, Macrotia, Thin vermilion border, Short philtrum, Failure to t... ORPHA:261304
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Camptodactyly of finger, Exaggerated cupid's... ORPHA:261236
Larsen-Like Syndrome
Kyphoscoliosis, Wide anterior fontanel, Conductive hearing impairment, Dental malocclusion, Cleft... OMIM:608545
Three M Syndrome 2
Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Small for gestational age, Sho... OMIM:612921
Primary Hyperoxaluria
Optic disc pallor, Hyperoxaluria, Failure to thrive, Choroidal neovascularization, Cutis marmorat... ORPHA:416
Cardiomyopathy, Dilated, 2E
Death in infancy, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Death in childhood OMIM:619492
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Torticollis, Posteriorly rotated ears, Tapered finger, Submucous cleft ... OMIM:619680
Progeroid Syndrome, Petty Type
Mandibular prognathia, Low-set, posteriorly rotated ears, Reduced subcutaneous adipose tissue, Pr... ORPHA:2963
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thick upper lip vermilion, Ventricular septal defect, Optic neuropathy, He... OMIM:619727
Hereditary Pheochromocytoma-Paraganglioma
Hypertensive retinopathy, Cranial nerve compression, Adrenal pheochromocytoma, Conductive hearing... ORPHA:29072
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sensorineural hearing impairment, Scoliosis, Atrial septal defect, Retrognathia, Limb hypertonia ORPHA:457351
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Diarrhea, Steatorrhea, Hematochezia, Pr... ORPHA:2070
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increased body weigh... ORPHA:398069
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... OMIM:619636
Acrofrontofacionasal Dysostosis 2
Bifid scrotum, Syndactyly, Sacral dimple, Broad hallux, Hypospadias, Posteriorly rotated ears, Wi... OMIM:239710
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb... OMIM:252940
Microform Holoprosencephaly
Hypoplasia of penis, Tented upper lip vermilion, Renal agenesis, Cyclopia, Maternal diabetes, Ast... ORPHA:280200
Postinfectious Vasculitis
Bacterial endocarditis, Acrocyanosis, Recurrent streptococcus pneumoniae infections, Membranoprol... ORPHA:48435
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Proboscis Lateralis
External genital hypoplasia, Orofacial cleft, Microcornea, Abnormality of the maxillary sinus, Hi... ORPHA:141099
Noonan Syndrome 6
Short neck, Pectus excavatum, Cryptorchidism, Sensorineural hearing impairment, Abnormal sternum ... OMIM:613224
Pseudo-Torch Syndrome 3
Death in infancy, Proteinuria, Apnea, Cerebral hemorrhage, Cardiomegaly, Respiratory insufficienc... OMIM:618886
Myotonic Dystrophy 2
Hypogonadism, Elevated circulating follicle stimulating hormone level, Oligozoospermia OMIM:602668
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Tapered finger, Micrognathia, Kyphosis, Sensorineural hearing impairment, Protrudin... ORPHA:2479
Septopreoptic Holoprosencephaly
Precocious puberty, Abnormal rib morphology, Coarctation of aorta, Anteriorly placed anus, Anteri... ORPHA:280195
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Broad jaw, Bicuspid aortic valve, Exaggerated cupid's bow, Small for gestational age, Tapered fin... OMIM:614501
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Respiratory distress, Palmoplantar cutis gyrata, Cryptorchidism, Prominent scrotal... ORPHA:1555
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Dent... OMIM:608612
Fanconi Anemia, Complementation Group D2
Ectopic kidney, Aplasia of the 1st metacarpal, Micropenis, Pelvic kidney, Renal duplication, Shor... OMIM:227646
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal pinna morphology, Abnormal heart morphology, Coarctation of a... ORPHA:261183
Distal 17P13.1 Microdeletion Syndrome
Arachnodactyly, Limited elbow movement, Abnormal hand morphology, Protruding ear, High palate, Hy... ORPHA:319171
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Exercise-induced rhabdomyolysis, Ventricular septal defect, Pneumonia, Smal... ORPHA:26793
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... OMIM:178110
Crouzon Syndrome
Hypoplasia of the maxilla, Hydrocephalus, Abnormal sacrum morphology, Optic atrophy, Narrow palat... ORPHA:207
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Cerebral hemorrhage, Secundum atrial septal defect, Patent d... OMIM:617397
Gaucher Disease Type 1
Proteinuria, Pericardial effusion, Kyphosis, Abnormal pulmonary interstitial morphology, Hematuri... ORPHA:77259
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Tapered finger, Long fingers, Thick lower lip vermilion, Prominent antihelix, ... OMIM:614407
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hydrocephalus, Bicuspid aortic valve ORPHA:397951
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Cataract, Adrenal hyperplasia, Abnormal cerebral vascular morphology, Primary... ORPHA:3453
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency due to muscle weakness, Sensorin... OMIM:258450
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Ventricular septal defect, Con... ORPHA:139466
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Syndromic Diarrhea
Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Gastritis, Small for gestation... ORPHA:84064
Occipital Horn Syndrome
Pectus carinatum, High palate, Narrow chest, Broad ribs, Pelvic bone exostoses, Hiatus hernia, Sh... OMIM:304150
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, ... OMIM:276820
Intellectual Developmental Disorder, Autosomal Recessive 45
Retrognathia, Thick vermilion border OMIM:615979
Pfeiffer Syndrome Type 3
Respiratory distress, Aqueductal stenosis, High palate, Vesicoureteral reflux, Finger syndactyly,... ORPHA:93260
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality... ORPHA:163966
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Cataract, Intestinal pseudo-obstruction, Abnormal vest... OMIM:607459
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Obtuse angle of mandible, Short tubular bones of the hand, Coxa valga, Wide anterior fontanel, Mi... ORPHA:85184
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Arachnodactyly, Retinal dystrophy, Proteinuria, Abnormality of the kidney,... ORPHA:261222
Meier-Gorlin Syndrome 5
Small earlobe, Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular femoral epip... OMIM:613805
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Secundum atrial septal defect, Sensorineural hearing impairment, Coarcta... OMIM:614300
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Abnormal r... ORPHA:93351
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma... ORPHA:1275
Norrie Disease
Sclerocornea, Venous insufficiency, Abnormal pupil morphology, Protruding ear, Hypoplasia of the ... ORPHA:649
Q Fever
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effus... ORPHA:781
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Sensorineural hearing impairment, Palmoplantar keratoderma, Conjunctivitis, Failure ... OMIM:242150
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Hyperopic astigmatism, Irr... OMIM:252600
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Aspiration pneumonia, Cough, Nephropathy, Abnormality of the female genitalia, Tracheobronchial l... ORPHA:1018
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Wide anterior f... OMIM:620099
Pontocerebellar Hypoplasia, Type 1F
Retrognathia, Thick vermilion border, Smooth philtrum, Long philtrum OMIM:619304
Progeroid Short Stature With Pigmented Nevi
Irregular dentition, Thoracic scoliosis, Cataract, Bicuspid aortic valve, Esophageal ulceration, ... OMIM:176690
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Spontaneous neonatal pneumothorax, Frontal open bite, Micrognathia, Wide anterior fontanel, Short... OMIM:225410
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... ORPHA:2019
Meckel Syndrome
Ureteral duplication, Sclerocornea, Micrognathia, Microcornea, Urethral atresia, Low-set, posteri... ORPHA:564
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Overlapping toe, Ventricular septal defect, Cerebral hemorrhage, Hiatus hernia, Intestinal malrot... OMIM:616682
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Finger syndactyly, Toe syndactyly, Multicystic kidney dysplasia, Cutis marmor... ORPHA:1556
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Abnormality of the dentition, Emphysema, ... ORPHA:436
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic acidur... OMIM:251000
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Pulmonary Hypertension, Primary, 1
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar... OMIM:178600
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large... ORPHA:116
Axenfeld-Rieger Syndrome, Type 3
Microdontia, Patent ductus arteriosus, Sensorineural hearing impairment, Hypoplasia of the iris, ... OMIM:602482
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Chronic diarrhea, Vomiting, Steatorrhea, Exocrine pancreatic insu... OMIM:557000
Bannayan-Riley-Ruvalcaba Syndrome
Intracranial hemorrhage, Arteriovenous malformation, Aortic aneurysm ORPHA:109
Enthesitis-Related Juvenile Idiopathic Arthritis
Back pain, Abnormal metatarsal morphology, Abnormal shoulder morphology, Abnormal femoral neck/he... ORPHA:85438
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Optic atrophy, Organic aciduria,... ORPHA:99742
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Respiratory distress, Pulmonary edema, Transient ischemic attack, Cardio... OMIM:115197
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve, Foot joint contracture, Widely spaced teeth, Thick vermilion border, Short... OMIM:619641
Maternal Uniparental Disomy Of Chromosome 6
Miscarriage, Cleft upper lip, Cleft palate, Hydrocele testis, Slender long bone, Increased serum ... ORPHA:96181
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Abnormal renal morpho... ORPHA:83
Usher Syndrome Type 3
Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Vestibular ... ORPHA:231183
Dent Disease
Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Nephrocalcinosis, Aminoa... ORPHA:1652
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Auriculocondylar Syndrome 3
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... OMIM:615706
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Myositis, Proteinuria, Pericardial effusion, Dyspnea, Oral ulcer... ORPHA:93552
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Pulmonary embolism, Intracranial hemorrhage, Colit... ORPHA:3260
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Micrognathia, Cleft upper lip, Kyphosis, Patent ductus arteriosus, Cle... OMIM:153400
Combined Oxidative Phosphorylation Deficiency 54
Microretrognathia, Optic disc pallor, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis,... OMIM:619737
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Single transverse palmar crease, Proteinuria, Glomerulonephritis, Hip dislocation, G... OMIM:619428
Fgfr2-Related Bent Bone Dysplasia
Overfolding of the superior helices, Natal tooth, Clitoral hypertrophy, Megalocornea, Hypoplastic... ORPHA:313855
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti... OMIM:223800
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Heparan sulfate excretion in urine, Recurrent upper respiratory t... OMIM:252930
Neuhauser Syndrome
Iridodonesis, Arachnodactyly, Micrognathia, Cupped ear, Genu valgum, Hypoplasia of the iris, Larg... OMIM:249310
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Juvenile Polyposis Of Infancy
Cachexia, High, narrow palate, Patent ductus arteriosus, Rectal prolapse, Adenomatous colonic pol... ORPHA:79076
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... ORPHA:93259
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Exercise-induced myoglobinuria, Hyperlordosis, Kyphosis, Achilles tendon contra... OMIM:607155
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Stomatitis, Dextrocardia, Homocystinuria, Small for gestational age, Cy... OMIM:277380
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive... ORPHA:794
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Lateral clavicle hook, Shoulder dislocation, Conductive hearing ... OMIM:171480
Preeclampsia
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... ORPHA:275555
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... OMIM:250420
Intellectual Developmental Disorder, Autosomal Recessive 70
Retrognathia, Urinary incontinence OMIM:618402
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Bamforth-Lazarus Syndrome
Thyroid agenesis, Retrognathia, Cleft palate, Congenital hypothyroidism ORPHA:1226
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Thoracic hypoplasia, Postaxial polydactyly, Missing ribs... OMIM:617866
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large for gestational age, Delayed epiphyseal ossification, Elevated circul... ORPHA:226313
Galloway-Mowat Syndrome
Abnormal intervertebral disk morphology, Proteinuria, Camptodactyly of finger, Hiatus hernia, Mic... ORPHA:2065
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Ground-glass opacification, Productive cough, Nonpr... ORPHA:454836
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm ORPHA:3093
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Ketonuria, Bicuspid aortic valve, Mitral atresia, Hypospadias, Micrognathia, Sm... OMIM:220111
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Single transverse palmar crease... OMIM:618161
Cranioectodermal Dysplasia 3
Sandal gap, Rhizomelia, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty... OMIM:614099
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc colobo... OMIM:241310
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Apnea, Ocular albinism, Retrognathia, Abnormal pulmonary inters... OMIM:617050
Malaria
Respiratory distress, Acute kidney injury, Retinopathy ORPHA:673
Trichothiodystrophy 8, Nonphotosensitive
Thin upper lip vermilion, Long philtrum, Retrognathia, Protruding ear OMIM:619691
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive OMIM:612075
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Urinary incontinence, Hypermyelinated retinal nerve fibers, Mitral valve prolapse, Distal amyotro... ORPHA:98
Congenital Disorder Of Glycosylation, Type Iiw
Failure to thrive, Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscop... OMIM:619525
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Cryptorchidism, Submucous cleft ... ORPHA:250999
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Diarrhea, Protein-losing enteropathy ORPHA:103910
46,Xy Sex Reversal 4
Renal dysplasia, Hypergonadotropic hypogonadism, Micrognathia, Sensorineural hearing impairment, ... OMIM:154230
Mitral Valve Prolapse 1
Reversed usual vertebral column curves, Pectus excavatum, High, narrow palate, Mitral valve prola... OMIM:157700
Tuberous Sclerosis Complex
Respiratory distress, Pancreatic endocrine tumor, Renal cyst, Chorioretinal hypopigmentation, Phe... ORPHA:805
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... OMIM:177850
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Skeletal muscle atrophy, Failure to thrive, Dilated cardiomyopathy, Esophag... ORPHA:367
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy, Kyphoscoliosis OMIM:619099
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture, Kyphoscoliosis OMIM:617977
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Autosomal Dominant Omodysplasia
Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Micrognathia, Elbow dislocation, C... ORPHA:93328
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Drusen, Chronic kidney disease, Stage 5 chronic kidney disease,... ORPHA:54370
Chronic Atrial And Intestinal Dysrhythmia
Intestinal pseudo-obstruction, Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis,... OMIM:616201
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... OMIM:303600
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of... OMIM:264800
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal clavicle morphology, Hypospadias, Tarsal synostosis, Aplastic clavicle, Micrognathia, Ab... ORPHA:85199
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... OMIM:617006
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Cataract, Band keratopathy, Malabsorption, Enamel hypomineralization, Bicarbon... ORPHA:47159
X-Linked Intellectual Disability, Snyder Type
Mandibular prognathia, Decreased muscle mass, Dental crowding, Ectopic kidney, Pectus carinatum, ... ORPHA:3063
Momo Syndrome
Delayed eruption of teeth, Underfolded helix, Cutis marmorata, Short neck, Large for gestational ... ORPHA:2563
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Thin upper lip vermilion, Organic aciduria, Long philtrum OMIM:614741
Aicardi-Goutieres Syndrome 1
Diabetes insipidus, Vasculitis, Erythema, Multiple gastric polyps, Cardiomyopathy, Prolonged neon... OMIM:225750
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Aminoaciduria, Short philtrum, Clinodactyly, Decreased platelet glycoprotein Ib, Sub... OMIM:603585
Waardenburg Syndrome Type 2
Aganglionic megacolon, Abnormality of the kidney, Sensorineural hearing impairment, Premature gra... ORPHA:895
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia, Abnormal rib morphology, Tracheoesophageal fist... ORPHA:93941
Fibrochondrogenesis 2
Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast... OMIM:614524
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Drusen, Glomer... ORPHA:329918
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, H... OMIM:611134
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Cardiomegaly, Heparan sulfate excretion in urine, Recurrent upper respiratory tra... OMIM:252920
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi... ORPHA:2476
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... OMIM:610913
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Dyspnea, Hematuria, Stroke, Acute kidney injury ORPHA:54057
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate... OMIM:268305
Dysspondyloenchondromatosis
Kyphoscoliosis, Abnormal fibula morphology, Genu valgum, Vertebral segmentation defect, Platyspon... ORPHA:85198
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Skeletal muscle atrophy, Arachnodactyly, Hearing impairment, Kyphoscoliosis, W... OMIM:614856
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... ORPHA:254864
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Broad ribs, Broad metacarpals, Tapered finger, Precocious puberty, Hyperlordosis, Cleft lip, Obes... OMIM:301066
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... ORPHA:3201
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Hearing impairment, Ectopic kidney, Short neck, Abnormal rib morphology, Azoosper... ORPHA:2578
Listeriosis
Back pain, Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Jaundice, Rha... ORPHA:533
Monosomy 22
Low-set, posteriorly rotated ears, Finger syndactyly, Aplasia of the thymus, Single transverse pa... ORPHA:96123
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Thin upper lip vermilion, Anterior concavity of thoracic vertebrae, Micrognathia, Cupped ear, Eve... OMIM:617101
Chand Syndrome
Short fifth metatarsal, Hydroureter, Atelectasis, Cleft palate, Agenesis of permanent teeth, Abno... ORPHA:1401
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Papilledema, Facial palsy, Sclerotic scapulae, Broad clavicles... OMIM:269500
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cutis marmorata, Diabetes mellitus, Cardiomegaly, Developm... ORPHA:51
Poikiloderma With Neutropenia
Micrognathia, Carious teeth, Recurrent bronchopulmonary infections, Recurrent pneumonia, Telangie... OMIM:604173
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Abnormality of T cell physiology, Diabe... ORPHA:2237
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... OMIM:615710
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Polycystic ovaries, Hem... OMIM:608709
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Thin upper lip vermilion, Diastasis recti, Uplifted earlobe, Micrognathia, Pectus excavatum, Wide... OMIM:618548
Hereditary Methemoglobinemia
Lip discoloration, Small for gestational age, Cyanosis, Exertional dyspnea ORPHA:621
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... OMIM:250220
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Mandibular prognathia, Death in infancy, Thoracic scoliosis, Skeletal muscle atrophy, Respiratory... OMIM:620278
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... ORPHA:2639
Orofaciodigital Syndrome Xvi
Apnea, Hamartoma of tongue, Postaxial hand polydactyly, Postaxial foot polydactyly, Low-set ears,... OMIM:617563
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Schilbach-Rott Syndrome
Hypospadias, Posteriorly rotated ears, Micrognathia, 2-3 toe cutaneous syndactyly, Submucous clef... OMIM:164220
Aase-Smith Syndrome I
Death in infancy, Ventricular septal defect, Abnormal pinna morphology, Hydrocephalus, Flexion co... OMIM:147800
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Hypopituitarism, Dilation of Virchow-Robin spaces, Remnants of the hya... OMIM:603671
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Unilateral renal agenesis, Pectus ex... ORPHA:457284
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Flexion contracture, Cough, Abnormal patt... ORPHA:77260
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Small for gestational age, Unilateral renal agenesis, Cryptorchidism, ... OMIM:620024
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli... OMIM:616229
Renal Hypoplasia, Bilateral
Failure to thrive, Neonatal respiratory distress, Proteinuria, Small for gestational age, Cryptor... ORPHA:97362
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Pancreatic fibrosis, Postaxial polydactyly, Lateral clavic... OMIM:615503
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Cyanosis, Sudden episodic apnea, Rhabdomyolysis, Oliguria, Respiratory ins... ORPHA:159
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Proteinuria, Failure to thrive in infancy, Sensorineural hearing impairment, Chronic ki... ORPHA:488627
Renal Agenesis
Renal insufficiency, Absent vas deferens, Ventricular septal defect, Proteinuria, Unilateral rena... ORPHA:411709
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Cupped ear, Overfolded helix, Microtia, Rectovaginal fistula, Scoliosi... OMIM:617466
Bacterial Toxic-Shock Syndrome
Respiratory distress, Renal insufficiency, Sinusitis, Myositis, Glomerulonephritis, Pneumonia, Re... ORPHA:36234
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Ventricular septal defect, Apnea, Flexion contracture, Erythema, R... OMIM:614653
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Erythema, Vitritis, Retinal hemorrh... ORPHA:79098
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Carious teeth, Wide anterior fontanel, Narrow mouth, Excessive wrinkl... OMIM:219200
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition... OMIM:216300
Monosomy 9P
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Short neck, Anotia, H... ORPHA:261112
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... OMIM:602196
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Thoracic aortic aneurysm OMIM:619351
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Recurrent respiratory infections, R... OMIM:211530
Proteus-Like Syndrome
Mandibular prognathia, Retinal detachment, Communicating hydrocephalus, Cataract, Thymus hyperpla... ORPHA:2969
Camurati-Engelmann Disease, Type 2
Hip contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Knee flexion contracture, Mitr... OMIM:606631
Lcat Deficiency
Renal insufficiency, Proteinuria, Corneal opacity, Stage 5 chronic kidney disease, Premature coro... ORPHA:650
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulat... ORPHA:747
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Decreased muscle mass, Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Abnormal f... ORPHA:73230
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology ORPHA:2374
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Ureteral duplication, Renal agenesis, Absent thumb, Absent radius, Ectopic k... OMIM:602200
Pseudoachondroplasia
Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip... OMIM:177170
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Nocardiosis
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... ORPHA:31204
Kinsship Syndrome
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Downturned corn... OMIM:619297
Cocaine Intoxication
Respiratory distress, Intestinal perforation, Tachypnea, Tubulointerstitial nephritis, Colitis, C... ORPHA:90068
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Short metatarsal, Tibial bowing, Tarsometatarsal synostosis, Abnormal v... OMIM:600383
Fanconi Anemia, Complementation Group P
Micrognathia, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius, Horseshoe kidn... OMIM:613951
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Small scrotum, Lip pi... ORPHA:1300
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Proteinu... ORPHA:276621
Desbuquois Dysplasia 2
Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carina... OMIM:615777
Folinic Acid-Responsive Seizures
Respiratory distress, Sensorineural hearing impairment, Optic atrophy, Apnea ORPHA:79097
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated cardiomyopathy, Neonatal ... OMIM:620300
Neurofibromatosis-Noonan Syndrome
Pectus excavatum of inferior sternum, Posteriorly rotated ears, Short neck, Secundum atrial septa... OMIM:601321
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Small scrotum, Cryptorchidism, Optic atrophy, Death in childhood, Micropeni... OMIM:615597
Duplication Of The Pituitary Gland
Encephalocele, Thoracic scoliosis, Abnormal odontoid process morphology, Short neck, Supernumerar... ORPHA:314621
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Pectus excavatum, Calcaneovalgus deformity, Bruising susceptibility, Mitral valve prolapse OMIM:225320
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Hypospadias, Facial palsy, Abnormal thorax morphology, Flexion contractu... ORPHA:171430
Trisomy 9P
Brachydactyly, Sacral dimple, Dental crowding, Short neck, Kyphosis, Abnormal pupil morphology, N... ORPHA:236
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Intellectual Developmental Disorder, Autosomal Dominant 42
High palate, Short philtrum, Lower limb muscle weakness, Tapered finger, Congenital hypothyroidis... OMIM:616973
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Diabetes mellitus, Hypogona... ORPHA:465508
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M... ORPHA:3035
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Hypoparathyroidism, Respiratory distress, Micromelia, Short neck, Fetal pyelect... ORPHA:50810
Cleft Velum
Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Recurrent otitis medi... ORPHA:99772
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Multicystic kidney dysplasia, Abnormally ossified ver... ORPHA:1318
Penile Agenesis
Maternal diabetes, Fetal pyelectasis, Bilateral renal hypoplasia, Absent penis, Atrial septal def... ORPHA:49
Short Stature, Brussels Type
Microretrognathia, Delayed epiphyseal ossification, Narrow chest, Horseshoe kidney ORPHA:2867
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Stro... ORPHA:268943
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Diabetes mellitus, Sensorineural hearing impairment, Optic atrophy, Abnormal autonom... OMIM:598500
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Short neck, Upper limb peromelia, Hypoplasia of the maxi... ORPHA:1299
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Conjunctivitis, Ecchymosis, Pericardial effusion, Vertigo, Epidi... ORPHA:99827
White-Kernohan Syndrome
Thin upper lip vermilion, Hydroureter, Tented upper lip vermilion, Macrotia, Obesity, Horseshoe k... OMIM:619426
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Mitral valve prolapse, Thi... OMIM:314400
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Sensorineural hearing impairm... ORPHA:182050
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Telangiectasia, Cardiomyopathy, A... OMIM:235200
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Genu valgum, Aminoaciduria, Pulmonary fibrosis, Glyc... OMIM:618913
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non... ORPHA:1302
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Cardiofaciocutaneous Syndrome 2
Posteriorly rotated ears, High palate, Low-set ears, Mitral valve prolapse OMIM:615278
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Small for gestational age, Ventricular septal defect, Hypergonadotr... OMIM:227645
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Proteinuria OMIM:620010
Brachycephaly, Trichomegaly, And Developmental Delay
Single transverse palmar crease, Conductive hearing impairment, Supernumerary tooth, Submucous cl... OMIM:617412
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide mo... OMIM:154500
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Rhabdomyolysis, Dilated cardiomyopathy, Respiratory insufficiency, Pig... OMIM:609015
Majeed Syndrome
Glomerulopathy, Failure to thrive, Proteinuria, Cachexia, Malabsorption, Flexion contracture, Wei... ORPHA:77297
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Tolchin-Le Caignec Syndrome
Abnormal vestibular function, Arachnodactyly, Diastasis recti, Micrognathia, Precocious puberty, ... OMIM:618971
Branchiootorenal Syndrome 1
Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Vesicoure... OMIM:113650
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Heparan sulfate excretion in urine, Recurrent upper respiratory tract infections,... OMIM:252900
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Tapered finger, Stage 5 ... OMIM:617730
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Proteinuria, Ground-glass opacification, Dysp... ORPHA:90060
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Alternating Hemiplegia Of Childhood
Respiratory distress, Facial hypotonia, Exaggerated cupid's bow, Apnea, Downturned corners of mou... ORPHA:2131
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p... OMIM:615008
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Diarrhea, Esophageal carcinoma, Enterocolitis, Abnormal intestine morphology ORPHA:391487
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... OMIM:605376
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ectodermal dysplasia, Death in childhood, Neonatal death, Atrial septal defect, Death in infancy,... OMIM:308205
Fetal Akinesia Deformation Sequence 1
Decreased muscle mass, Elbow contracture, Micrognathia, Short neck, High, narrow palate, Congenit... OMIM:208150
15q26 overgrowth syndrome
Mandibular prognathia, Micrognathia, Short neck, Abnormal finger morphology, High palate, Vesicou... DECIPHER:81
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Asthm... ORPHA:2714
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia, Abnormality ... OMIM:601163
Witteveen-Kolk Syndrome
Glue ear, Decreased response to growth hormone stimulation test, Proximal placement of thumb, Con... OMIM:613406
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short neck, Abnormality of the thyroid gla... ORPHA:2234
Nicolaides-Baraitser Syndrome
Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P... OMIM:601358
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Vertigo, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, ... ORPHA:330012
Osteogenesis Imperfecta, Type Xx
Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Kyphoscoliosis, Narr... OMIM:618644
Chitayat Syndrome
Hallux valgus, Recurrent respiratory infections, Respiratory distress, Pectus excavatum, Abnormal... OMIM:617180
Kindler Epidermolysis Bullosa
Urethral stricture, Flexion contracture, Gingivitis, Inflammation of the large intestine, Colitis... ORPHA:2908
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Diastema, Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb OMIM:179250
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Skeletal muscle atrophy, Recurrent myoglobinuria, Glycogen accumulation in muscle fib... ORPHA:368
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... OMIM:175500
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Supernumerary nipple, Micrognathia, Pectus excavatum, Submucous cleft hard pala... OMIM:619122
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F... ORPHA:264675
Dermatosparaxis Ehlers-Danlos Syndrome
Abnormality of subcutaneous fat tissue, Coxa valga, Avascular necrosis of the capital femoral epi... ORPHA:1901
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Perianal derm... OMIM:619573
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... OMIM:602588
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Galactosemia I
Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Albuminuria, Aminoacid... OMIM:230400
Myotonic Dystrophy 1
Respiratory distress, Cataract, Facial diplegia, Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Alg11-Cdg
Failure to thrive, Limb hypertonia, Scoliosis, Long philtrum, Retrognathia, Hearing impairment ORPHA:280071
Gitelman Syndrome
Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubul... ORPHA:358
Aspartylglucosaminuria
Mandibular prognathia, Recurrent respiratory infections, Aspartylglucosaminuria, Abnormal morphol... ORPHA:93
Achondrogenesis, Type Ii
Barrel-shaped chest, Microretrognathia, Absent vertebral body mineralization, Broad long bones, S... OMIM:200610
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Neonatal respiratory distress, Cardiomegaly, High, na... ORPHA:228308
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th... ORPHA:93324
Hidrotic Ectodermal Dysplasia, Halal Type
Supernumerary nipple, Irregular menstruation, Protruding ear, Retrognathia, Hearing impairment ORPHA:1809
Mpdu1-Cdg
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:79323
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Male infertility, Hypergonadotropic hypogonadism, Renal agenesis, S... OMIM:227650
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... OMIM:617405
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Death in infancy, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced rhabdomyolys... OMIM:201475
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Acute rhabdomyolysis, Premature thelarche, Sensorineural hearing impairment, Rhabdomyo... OMIM:616878
You-Hoover-Fong Syndrome
Hearing impairment, Kyphoscoliosis, Pectus excavatum, Accessory oral frenulum, Cleft palate, Coar... OMIM:616954
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Abnormal rib morphology, Slender long bone, Abnormal pelvic gi... ORPHA:1506
Coffin-Siris Syndrome 11
Cleft soft palate, Uplifted earlobe, Esophageal atresia, Small hand, Downturned corners of mouth,... OMIM:618779
Hartsfield Syndrome
Syndactyly, Median cleft lip, Hypospadias, Posteriorly rotated ears, Alobar holoprosencephaly, Cl... OMIM:615465
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Unilateral renal agenesis, Hiatus hernia, Poor wound healing, Ambiguou... OMIM:606408
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:221900
Crane-Heise Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypopl... ORPHA:1512
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... OMIM:600002
Leiomyomatosis, Diffuse, With Alport Syndrome
High-frequency sensorineural hearing impairment, Renal insufficiency, Cataract, Proteinuria, Trac... OMIM:308940
Native American Myopathy
Skeletal muscle atrophy, Muscle fiber atrophy, Micrognathia, Cryptorchidism, Abnormality of skele... ORPHA:168572
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Gen... ORPHA:2831
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scol... OMIM:259440
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca... OMIM:611878
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Pectus excavatum, Cleft palate, High palate, Overfolded helix, Failure to thrive, Hydronephrosis,... ORPHA:488613
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Posteriorly rotated ears, Decreased nerve conduction velocity, Chorioretina... OMIM:618733
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Conduct... ORPHA:90646
Gaucher Disease Type 3
Recurrent respiratory infections, Mitral valve calcification, Abnormal heart valve morphology, Pr... ORPHA:77261
Spastic Paraplegia 23, Autosomal Recessive
Scapular winging, Micrognathia, Premature graying of body hair, Scoliosis, Retrognathia, Lower li... OMIM:270750
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Mixed hearing impairment, Posteriorly rotated ears, Congenital diaphragmati... OMIM:606164
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ... ORPHA:90791
Hec Syndrome
Communicating hydrocephalus, Abnormal retinal vascular morphology, Abnormal pupil morphology, Vag... ORPHA:2119
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria, Decreased level of coenzyme Q10 in skeletal muscle OMIM:614652
Immunodeficiency 49
Natal tooth, Posteriorly rotated ears, Micrognathia, Pulmonary artery stenosis, Short philtrum, U... OMIM:617237
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, M... OMIM:182250
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Small for gestation... OMIM:600901
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Cryptorchidism, Retrognathia, Excessive wrinkling of palmar skin OMIM:210700
Progressive Supranuclear Palsy-Corticobasal Syndrome
Hand clenching, Respiratory distress ORPHA:240103
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Cryptorchidism, Sensorineur... OMIM:617575
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Toe syndactyly, Recurrent urinary tract infections, Aplasia of the 3rd finger... OMIM:619218
Meckel Syndrome 12
Rocker bottom foot, Ureteral hypoplasia, Micrognathia, Antecubital pterygium, Renal hypoplasia, H... OMIM:616258
Stt3B-Cdg
Respiratory distress, Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Failure to thrive ORPHA:370924
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Sensorineural hea... ORPHA:2838
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Skeletal muscle atrophy, Hypospadias, Stroke-like episode, High palate, Pul... OMIM:619272
Dent Disease 1
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... OMIM:300009
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Renal salt wasting, Abnormal thorax morphology, Adrenogenital s... OMIM:201910
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Single transverse palmar crease, Dilatation o... ORPHA:466943
Paget Disease Of Bone 5, Juvenile-Onset
Barrel-shaped chest, Short humerus, Bowing of the long bones, Increased urine deoxypyridinoline l... OMIM:239000
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Rhabdomyolysis, Red-brown urine, Cardiomyopathy, Myopathy, Myoglobinuria ORPHA:228305
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Diarrhea, Colitis, Vomiting, Anoperineal fistula, Cro... OMIM:619381
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Aplasia of the ulna, Hand oligodactyly, Endocardial fibroelastosis OMIM:276822
Lysinuric Protein Intolerance
Failure to thrive, Proteinuria, Glomerulonephritis, Decreased response to growth hormone stimulat... ORPHA:470
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Scoliosis, Arachnodactyly, Pulmonic stenosis OMIM:617600
Dravet Syndrome
Cyanotic episode, Tibial torsion ORPHA:33069
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Right atrial enlargement, Esophageal varix, Pulmonary arterial hyperte... OMIM:616028
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Abnorm... ORPHA:84090
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Microretrognathia, Hypospadias, Abnormal pinna morphology, Multiple pterygia, Pectus excavatum, T... OMIM:177980
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Wide anterior fontanel, Increased circul... OMIM:617241
Gracile Bone Dysplasia
Death in infancy, Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Micro... OMIM:602361
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Limb-Mammary Syndrome
Cleft hard palate, Protruding ear, Aplasia of the ovary, Clinodactyly of the 5th finger, Bifid uv... ORPHA:69085
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... OMIM:165590
Bent Bone Dysplasia Syndrome 1
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Bell-shap... OMIM:614592
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Dexamethason... ORPHA:403
Autosomal Recessive Spastic Paraplegia Type 20
Skeletal muscle atrophy, Dysuria, Abnormality of the hand, Abnormal thumb morphology, Abnormal ha... ORPHA:101000
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Down-sloping shoulders, Micrognathia, Short neck, Long fingers, 2-3 toe cutaneous syndactyly, Cle... OMIM:301091
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve c... ORPHA:206436
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Cutis marmorata, Vasculitis, Hematuria, Keratoc... ORPHA:91138
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cataract, Cochlear degeneration ORPHA:3233
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Small for gestational age, Large for gestational age,... ORPHA:254534
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Familial Mediterranean Fever
Pericarditis, Intestinal obstruction, Proteinuria, Malabsorption, Orchitis, Vasculitis, Erythema,... ORPHA:342
Iga Nephropathy, Susceptibility To, 1
Purpura, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the... OMIM:161950
Cushing Disease
Plethora, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Ecchy... ORPHA:96253
Cryofibrinogenemia, Familial Primary
Hematuria, Acrocyanosis, Transient nephrotic syndrome OMIM:123540
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts... OMIM:267010
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompact... OMIM:619167
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microretrognathia, Multiple pulmonary cysts, Ventricular septal defect, Macular atrophy, Failure ... OMIM:619418
Cole-Carpenter Syndrome
Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b... ORPHA:2050
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Pulmonic stenosis, Death in infancy OMIM:619433
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Mixed hearing impairment, Abnormality of the kidney, Unilateral ... OMIM:118100
Lowe Oculocerebrorenal Syndrome
Wrist swelling, Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight prote... OMIM:309000
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Smooth philtrum, Thin upper lip vermilion, Asymmetry of the ears, Hypoplastic ... OMIM:619124
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Hearing impairment, Protruding tongue, Hand clenching, Limb hypertonia OMIM:619580
Martin-Probst Syndrome
Bifid scrotum, Renal insufficiency, Proteinuria, Micrognathia, Cryptorchidism, Sensorineural hear... OMIM:300519
Oculopharyngodistal Myopathy 1
Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Reduced forced vital capaci... OMIM:164310
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency, Abnormal mitochondrial shape OMIM:610773
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Anal stenosis, Recurrent sinopulmonary infections, Recurrent respiratory... ORPHA:647
Bangstad Syndrome
Small for gestational age, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Re... OMIM:210740
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly OMIM:604757
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Reduced forced vital capacity, Z-band str... OMIM:619178
Netherton Syndrome
Recurrent respiratory infections, Ectopic kidney, Malabsorption, Asthma, Increased circulating Ig... ORPHA:634
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Myocarditis, Metaphyseal ch... ORPHA:93317
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Low-set, posteriorly rotated ears, A... ORPHA:59315
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Cutis marmorata, Renal hypoplasia, Syringomyelia, Low-set ears, Narrow ... OMIM:613735
Meier-Gorlin Syndrome 6
Decreased response to growth hormone stimulation test, Conductive hearing impairment, Emphysema, ... OMIM:616835
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Dysmenorrhea, Increased sarcoplasmic glycogen, Esophageal varix, Increas... ORPHA:264580
Juvenile Nephropathic Cystinosis
Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Abnormal urine potas... ORPHA:411634
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Breast hypoplasia, Oligozoospermia OMIM:614813
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta OMIM:226100
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Iris atrophy, Short metacarpal, Mixed hearing impairment, Cleft upper lip,... OMIM:201180
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Decreased muscle mass, Congenital hip dislocation, Arachnodactyly, Rocker b... OMIM:271225
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, E... ORPHA:2769
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Multiple glomerular cysts, Apnea, Hyperventilation, Dyspnea, Sensorineural hea... ORPHA:255210
Tetanus
Respiratory distress, Elevated urinary norepinephrine level, Trismus, Tachypnea, Elevated urinary... ORPHA:3299
Ileal Neuroendocrine Tumor
Intestinal fistula, Tricuspid stenosis, Dermatological manifestations of systemic disorders, Weig... ORPHA:100078
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Renal insufficiency, Optic atrophy, Respiratory distress ORPHA:289916
Familial Dysautonomia
Recurrent respiratory infections, Orthostatic hypotension, Renal insufficiency, Corneal opacity, ... ORPHA:1764
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Miscarriage, Urinary incontinence, Centrally nucleated s... ORPHA:169189
Lymphatic Malformation 6
Abnormal pinna morphology, Micrognathia, Pectus excavatum, Cupped ear, Hydrocele testis, Varicose... OMIM:616843
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Fasting hyperinsulinemia, Pigmentar... ORPHA:71212
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Single transverse palmar crease, Micrognathia, Flexion contracture, Pectus carinatum, Narrow ches... OMIM:130070
Succinic Acidemia
Respiratory distress OMIM:600335
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased res... ORPHA:273
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Iris atrophy, Cataract, Ventricular septal defect, Kyphoscoliosis, Kyphosis,... OMIM:259770
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Renal insufficiency, Bowing of the legs, Delayed epiphyseal ossification, Enla... OMIM:300554
Desmoid Tumor
Intestinal polyposis, Abnormality of retinal pigmentation, Intestinal obstruction, Abnormality of... ORPHA:873
Carnitine Palmitoyltransferase Ii Deficiency
Neonatal respiratory distress, Hydrocephalus, Rhabdomyolysis, Red-brown urine, Stage 5 chronic ki... ORPHA:157
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... OMIM:602111
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Axial muscle stiffness ORPHA:240085
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea, Wide anterior fontanel, Renal cyst, Multiple renal cysts, Failure to thrive OMIM:614883
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Diabetes mellitus, Pneumonia, Cough, Nonproductive cough, Dyspnea, Pneumoth... ORPHA:36238
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Stage 5 chronic kidney disease, Congeni... OMIM:619609
Blau Syndrome
Xerostomia, Large vessel vasculitis, Abnormal optic nerve morphology, Posterior uveitis, Nephropa... ORPHA:90340
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero... OMIM:203780
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Arima Syndrome
Retinal dystrophy, Proteinuria, Polyuria, Dyspnea, Postaxial hand polydactyly, Tachypnea, Optic a... OMIM:243910
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs... OMIM:300863
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Weight loss, ... ORPHA:142
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontane... OMIM:610915
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Polyd... ORPHA:137914
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Prematurely aged appearance, Poor wound healing, Progeroid facial appe... OMIM:123700
Parenteral Nutrition-Associated Cholestasis
Villous atrophy ORPHA:567983
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Submucous cleft hard palate, Lumbar scoliosis, Finger joint hypermobility, R... OMIM:601492
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... OMIM:618022
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Tubular lum... OMIM:219730
Kenny-Caffey Syndrome, Type 1
Long clavicles, Carious teeth, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bo... OMIM:244460
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Clubbing, Intraalve... OMIM:610910
Breath-Holding Spells
Cyanosis OMIM:607578
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Hydrocephalus, Cleft palate, Conotruncal defect, Anotia, Microtia OMIM:243440
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... OMIM:618019
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion ... ORPHA:3206
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Premature adrenar... ORPHA:293987
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Scapular winging, Mixed hearing impairment, Down-sloping shoulders, Tapered fi... OMIM:615560
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive, Stroke ORPHA:927
Congenital Enterovirus Infection
Respiratory distress, Pericardial effusion, Myocarditis, Cardiomyopathy, Pleural effusion ORPHA:292
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... ORPHA:119
Grange Syndrome
Syndactyly, Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Finger cli... OMIM:602531
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Micrognathia, Absent radius, Esophageal atresia, A... OMIM:614083
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... OMIM:617604
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Decreased testicular size, Multicystic kidney dysplasia, Communicating hydrocep... OMIM:615287
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Plethora, Abnormal response to corticotropin releasing hormone ... ORPHA:189427
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Obesity... ORPHA:251004
Autoinflammatory-Pancytopenia Syndrome
Type I diabetes mellitus, Failure to thrive, Membranoproliferative glomerulonephritis, Proteinuria OMIM:619858
Occipital Horn Syndrome
Venous insufficiency, High, narrow palate, Coxa vara, Humerus varus, Pectus carinatum, Narrow che... ORPHA:198
Amyloidosis, Familial Visceral
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria OMIM:105200
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting ORPHA:79319
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... ORPHA:140896
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Trapezoidal distal femoral condyles, Vertebral hyperostosis, Abn... ORPHA:89936
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Ectopic kidney, Patent ductus arteriosus, Hypoplasia of the radius, ... OMIM:617247
Radial Ray Hypoplasia With Choanal Atresia
Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence OMIM:179270
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... OMIM:300106
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi... OMIM:602875
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Recurrent respiratory infections, Cachexia, Postaxial hand polydactyly, Long p... ORPHA:1389
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Carney Complex
Leydig cell neoplasia, Abnormal sperm motility, Ovarian serous cystadenoma, Precocious puberty, O... ORPHA:1359
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Absent thumb, Hypoplasia of the radius, Re... OMIM:617784
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Congenital Disorder Of Glycosylation, Type If
Death in infancy, Wide anterior fontanel, Flexion contracture, Optic atrophy, Renal cortical cyst... OMIM:609180
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloi... OMIM:609049
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Cleft soft palate, Optic nerve hypoplasia, Intestinal malrotation, Hydrocephal... OMIM:619321
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Neonatal respiratory distress, Bowed humerus, Hypospadias, Posteri... OMIM:619479
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration,... OMIM:219080
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Beaded ribs, Respiratory insuff... OMIM:166210
Frontofacionasal Dysplasia
Cataract, Cleft upper lip, Orofacial cleft, Microcornea, Cranium bifidum occultum, Malar flatteni... OMIM:229400
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Hydronephrosis, Anal atresia OMIM:235760
Enlarged Parietal Foramina
Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Short clavicles, Abnormal cer... ORPHA:60015
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Proteinuria, Progeroid facial appearance, Insulin-resistant diabet... ORPHA:79086
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Sepsis In Premature Infants
Cyanosis, Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal fla... ORPHA:90051
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Episodic Ataxia Type 1
Respiratory distress, Kyphoscoliosis, Vertigo, Calf muscle hypertrophy, Scoliosis, Hand clenching ORPHA:37612
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... ORPHA:99885
Diets-Jongmans Syndrome
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia... OMIM:618846
Holoprosencephaly 1
Cyclopia, Adrenal hypoplasia, Alobar holoprosencephaly, Single ventricle, Micropenis, Ethmocephal... OMIM:236100
Cushing Syndrome Due To Ectopic Acth Secretion
Plethora, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropi... ORPHA:99889
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Lymphatic Malformation 7
Respiratory distress, Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pl... OMIM:617300
Igg4-Related Retroperitoneal Fibrosis
Low back pain, Renal insufficiency, Dysuria, Hashimoto thyroiditis, Varicocele, Large vessel vasc... ORPHA:49041
Heme Oxygenase 1 Deficiency
Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Hematuria, Chemosis, Nephritis OMIM:614034
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... OMIM:119100
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Delayed eruption of permanent teeth, Proteinuria, Abnormal renal tubule morph... ORPHA:839
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Recurrent infections due to aspiration, Hypogeusia, Acrocyanosis, Decrea... OMIM:223900
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty, Failure to thrive, Aortopulmonary collateral arteries, Scoliosis ORPHA:293181
Macrocephaly-Developmental Delay Syndrome
Microretrognathia, Mandibular prognathia, Recurrent pneumonia, Abnormal speech discrimination, Hi... ORPHA:397612
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Long toe, Bicuspid aortic valve, Posteriorly rotated ears, Hearing impairment, Small for gestatio... OMIM:613355
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, C... OMIM:301050
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myoglobinuria OMIM:231530
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Facial hypotonia, Ext... ORPHA:438216
Wilson Disease
Hypoparathyroidism, Hyperphosphaturia, Proteinuria, Decreased nerve conduction velocity, Jaundice... OMIM:277900
Ivic Syndrome
Aplastic clavicle, Hearing impairment, Preaxial hand polydactyly, Short thumb, Hypoplasia of the ... ORPHA:2307
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Pancreatic fibrosis, Intestinal malrotation, Situs inversus totalis, Pancrea... OMIM:208540
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Weight loss, Keratoconjunctivitis, Organic aciduria ORPHA:79242
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Ketonuria, Apnea, Optic atrophy, Renal steatosis OMIM:261680
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased thyroid-stimulating hormone level, Wide anterior fontanel, Macroglossia, Decreased circ... OMIM:275100
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Failure to thrive, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria,... OMIM:277400
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Male hypogonadism, Abnormality of the cervical spine, Hypergonadotropic h... OMIM:307500
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Renal insufficiency, Mitral valve prolapse, Polycystic kidney dysplasia, Cer... OMIM:173900
Gaucher Disease, Type Iiic
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Calcificatio... OMIM:231005
Acquired Methemoglobinemia
Respiratory distress, Cyanosis, Dyspnea, Vertigo, Hypoxemia ORPHA:464453
Oromandibular Dystonia
Respiratory distress, Torticollis, Abnormality of the temporomandibular joint, Abnormal mandible ... ORPHA:93958
Pachyonychia Congenita
Respiratory distress, Natal tooth, Angular cheilitis, Ear pain, Palmoplantar keratoderma, Palmopl... ORPHA:2309
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Dorsocervical fat pad, Adrenal hyperplasia, Increased body weight, Increased c... OMIM:615830
Osteogenesis Imperfecta, Type Xvii
Decreased muscle mass, Bowed humerus, Kyphoscoliosis, Intraventricular hemorrhage, Hearing abnorm... OMIM:616507
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Punctate vasculitis skin lesions, Retinal hemorrhage, Macular edema, Hematuria, Tela... OMIM:192315
Mandibuloacral Dysplasia
Dental crowding, Increased subcutaneous truncal adipose tissue, Micrognathia, Abnormal tongue mor... ORPHA:2457
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Oeis Complex
Congenital hip dislocation, Epispadias, Ambiguous genitalia, female, Hemivertebrae, Anteriorly pl... OMIM:258040
Cole-Carpenter Syndrome 2
Microretrognathia, Pectus excavatum, Kyphosis, Hydrocephalus, Thin ribs, Platyspondyly, High pala... OMIM:616294
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Microretrognathia, High palate, Short 4th metacarpal, Short clavicles OMIM:606220
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidne... OMIM:614650
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hyp... ORPHA:79259
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Sacral dimple, Aganglionic megacolon, Tapered finger, I... OMIM:613603
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... OMIM:201750
Ethylene Glycol Poisoning
Renal insufficiency, Cyanosis, Gastritis, Facial palsy, Abnormal pattern of respiration, Tachypne... ORPHA:31826
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Vertigo, Cough ORPHA:99825
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hyperintensity of MRI T2 sign... ORPHA:79139
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure, Progressive h... OMIM:620166
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Limb... OMIM:207950
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... ORPHA:91359
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... OMIM:619598
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Short neck, High, narrow palate, Prominent protruding coccyx, Protruding ear, Chronic otitis medi... OMIM:300966
Waardenburg Syndrome, Type 2E
Vascular dilatation, Pectus excavatum, Aplasia of the semicircular canal, Sensorineural hearing i... OMIM:611584
Rodrigues Blindness
Sclerocornea, Nasal flaring, Protruding ear, Microcornea, Ectodermal dysplasia, Tooth malposition OMIM:268320
Biotinidase Deficiency
Respiratory distress, Apnea, Optic neuropathy, Hyperventilation, Myelopathy, Sensorineural hearin... ORPHA:79241
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Orthostatic hypotension, Neurogenic bladder, Hypospadias, Recurrent urinary tract infections, Sta... OMIM:191800
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive OMIM:600121
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Gastrointestinal stro... ORPHA:221
Acquired Von Willebrand Syndrome
Metrorrhagia, Epistaxis, Gastrointestinal angiodysplasia, Intracranial hemorrhage, Hematuria, Men... ORPHA:99147
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Toe syndactyly, Abnormal pinna morphology, Camptodactyly of finger, Proximal p... ORPHA:261211
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Diabetes mellitus, Sensorineural hearing impairment, Drumstick term... ORPHA:541423
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Chorioretinal degeneration, Upper limb mus... ORPHA:1435
Leptospirosis
Respiratory distress, Papilledema, Pericarditis, Cellular urinary casts, Jaundice, Rhabdomyolysis... ORPHA:509
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Diarrhea, Vomiting, Constipa... OMIM:155310
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Collagenoma, Familial Cutaneous
Iris atrophy, Right ventricular cardiomyopathy, Primary testicular failure, Sensorineural hearing... OMIM:115250
Fibromuscular Dysplasia, Multifocal
Tortuous cerebral arteries, Dental crowding, Micrognathia, Pectus excavatum, Hiatus hernia, Verte... OMIM:619329
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Male... ORPHA:90790
Encephalopathy, Ethylmalonic
Death in infancy, Failure to thrive, Abnormal retinal vascular morphology, Ethylmalonic aciduria,... OMIM:602473
Pycnodysostosis
Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persistence of primary teeth, Delayed er... OMIM:265800
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Maternal diabetes, Large for gestational age ORPHA:45452
Hypoadrenocorticism, Familial
Cyanosis, Adrenal insufficiency, Apnea, Adrenal hypoplasia OMIM:240200
Xylt1-Cdg
Coxa valga, Flared metaphysis, Cleft palate, Truncal obesity, Short long bone, Thick vermilion bo... ORPHA:370930
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Waardenburg Syndrome, Type 1
Mandibular prognathia, Smooth philtrum, Spina bifida, Congenital sensorineural hearing impairment... OMIM:193500
Von Willebrand Disease, Type 1
Epistaxis, Gastrointestinal angiodysplasia, Mitral valve prolapse, Menorrhagia, Aortic valve sten... OMIM:193400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Tubulointerstitial nephritis, Colitis, Hypothyroidism, Hyperthyro... ORPHA:37042
Kagami-Ogata Syndrome
Pursed lips, Respiratory failure requiring assisted ventilation, Diastasis recti, Kyphoscoliosis,... ORPHA:254519
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Respiratory... OMIM:613845
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Congenital Diaphragmatic Hernia
Respiratory distress, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia... ORPHA:2140
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Micrognathia, Abnormality of the dentition, Thin ribs, Femoral bowing, ... OMIM:617952
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Small for gestational age, Congenital sensorineural hearing impairment, Sens... OMIM:619147
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Cataract, External genital hypoplasia, Cryptorchidism, Submucous cleft hard ... ORPHA:2250
Gaucher Disease, Type Ii
Death in infancy, Apnea, Trismus, Stridor, Cough, Bronchiolitis, Failure to thrive, Recurrent asp... OMIM:230900
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Talipes equinovarus OMIM:150260
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Reduced subcutaneous adipose tissue, Dental crowding, Down-sloping shoulders, Coxa va... OMIM:248370
Lymphatic Malformation 13
Chronic lung disease, Unilateral deafness, Patent ductus arteriosus, Retinopathy of prematurity, ... OMIM:620244
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Monosomy 22Q13.3
Renal dysplasia, Sacral dimple, Dental crowding, Dental malocclusion, Vesicoureteral reflux, Obes... ORPHA:48652
Urofacial Syndrome 1
Recurrent urinary tract infections, Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruc... OMIM:236730
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Scapular winging, Skeletal muscle atrophy, Calf muscle p... ORPHA:352479
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Multiple impacted teeth,... OMIM:113300
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Sensorineural hearing impairmen... OMIM:618748
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Sensorineural hearing impairment, Chronic kidney... OMIM:146255
Cdags Syndrome
Hypospadias, Rectourethral fistula, Kyphosis, Sensorineural hearing impairment, Cleft palate, Rec... OMIM:603116
Thoracoabdominal Syndrome
Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte... OMIM:313850
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, M... OMIM:104200
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira... ORPHA:567548
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Skeletal muscle atrophy, Autoamputation of digits, Failure to thrive, Jaund... OMIM:256810
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Choroidal neovascularization, Sterile pyuria, Renal interstitial ede... ORPHA:91500
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Limb-girdle muscle weakness, Hypothyroidism, Rhabdomyolysis, Optic atrophy, Dyspnea, M... OMIM:251900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Cataract, Hypergonadotropic hypogonadism, Facial palsy, Premature ovaria... OMIM:157640
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Mitral valve prolapse ORPHA:309155
Lymphangiectasia, Intestinal
Malabsorption, Stillbirth, Intestinal lymphangiectasia, Decreased circulating IgG level, Prominen... OMIM:152800
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level, Abnormal saliva... ORPHA:2298
Hemorrhagic Fever-Renal Syndrome
Back pain, Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrh... ORPHA:340
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Thin upper lip vermilion, Diabetes mellitus, Thoracolumbar scoliosis, Hiatus hernia, Pancreatic c... OMIM:610199
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, M... ORPHA:347
Six2-Related Frontonasal Dysplasia
Absent/hypoplastic paranasal sinuses, Posteriorly rotated ears, Abnormality of the kidney, Small ... ORPHA:488437
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Immunoglobulin A Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Angioedema, Vasculitis, Optic atrophy... ORPHA:761
Ddost-Cdg
Failure to thrive, Nephrotic range proteinuria, Primary hypothyroidism ORPHA:300536
Pauci-Immune Glomerulonephritis
Renal insufficiency, Purpura, Proteinuria, Glomerulonephritis, Microscopic hematuria, Cough, Rena... ORPHA:93126
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Hyperinsulinemia, Increased body weight, Renal Fanconi sy... ORPHA:263455
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Malabsorption, Incr... OMIM:615508
9P13 Microdeletion Syndrome
Microretrognathia, External genital hypoplasia, Precocious puberty, Abnormality of cartilage of e... ORPHA:324313
Pheochromocytoma
Hypertensive retinopathy, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level... OMIM:171300
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Intestinal perforation, Xerostomia, Conjunctivitis, Cough, Chemosis, Conjun... ORPHA:95455
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Bardet-Biedl Syndrome 12
Hydroureter, Postaxial hand polydactyly, Hydrometrocolpos, Obesity, Postaxial foot polydactyly, H... OMIM:615989
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Failure to thrive in infancy, Fused cervical vertebrae, Pulmonary fibrosis,... OMIM:612852
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Bruising susceptibility, Petechiae, Mitral valve prolapse OMIM:225310
Triosephosphate Isomerase Deficiency
Respiratory distress, Optic disc pallor, Skeletal muscle atrophy, Death in infancy, Respiratory i... OMIM:615512
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Wide anterior fontanel, Weight loss, Micropenis, Hypertrophic cardiomyopathy, Hypoth... OMIM:613673
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Lethal Congenital Contracture Syndrome 5
Death in infancy, Small for gestational age, Centrally nucleated skeletal muscle fibers, Decrease... OMIM:615368
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Sensorineural hearing impa... ORPHA:2668
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia, Decreased response t... OMIM:245590
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... ORPHA:90794
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... ORPHA:231580
Neuroendocrine Neoplasm Of Appendix
Mechanical ileus, Tricuspid stenosis, Primary hypercortisolism, Midgut malrotation, Asthma, Ovari... ORPHA:100079
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Abnormal pinna morphology, Posteriorly rotated ears, Hypoplasia of the maxilla... ORPHA:228396
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon... ORPHA:95715
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Lower limb muscle weakness, Decreased adipose tissue around neck... OMIM:606721
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, L... ORPHA:100050
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Abnormal lung morphology, E... ORPHA:2035
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Cyanosis, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormo... OMIM:250790
Intellectual Developmental Disorder, Autosomal Dominant 58
Facial hypotonia, Single transverse palmar crease, Posteriorly rotated ears, Protruding tongue, D... OMIM:618106
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ... ORPHA:100057
Plague
Respiratory distress, Chapped lip, Hearing impairment, Abnormality of the elbow, Enterocolitis, E... ORPHA:707
Pitt-Hopkins-Like Syndrome 2
Protruding tongue, Wide mouth, Scoliosis, Pulmonic stenosis, Hyperventilation OMIM:614325
Ethylmalonic Encephalopathy
Acrocyanosis, Ethylmalonic aciduria, Retinal vascular tortuosity, Failure to thrive, Petechiae ORPHA:51188
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... OMIM:308700
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira... ORPHA:656
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Lacticaciduria, Stridor, Increased variability in muscle fiber diameter, Fa... OMIM:615595
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Bowing of the legs, Glycosuria, Aminoaciduria, Low-molecular-weight proteinuria OMIM:615605
Watson Syndrome
Posteriorly rotated ears, Pectus carinatum, Lisch nodules, Low-set ears, Pulmonic stenosis OMIM:193520
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Renal dysplasia, Renal duplication, Oral mucosal blisters, Urinary bladder in... ORPHA:79403
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Hypoglossia-Hypodactylia
Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia OMIM:103300
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia, Hearing abnormality, Abnormality of the pulmonary artery ORPHA:1065
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal tubulointerstitial morphology, Ren... ORPHA:411629
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Cryptococcosis
Respiratory distress, Abnormal retinal morphology, Nodular pattern on pulmonary HRCT, Pneumonia, ... ORPHA:1546
Renal Nutcracker Syndrome
Dyspareunia, Orthostatic hypotension, Proteinuria, Dysmenorrhea, Vulval varicose vein, Weight los... ORPHA:71273
Infection-Related Hemolytic Uremic Syndrome
Anuria, Diabetes mellitus, Pneumonia, Intestinal perforation, Myocarditis, Respiratory tract infe... ORPHA:544482
Diphallia
Bifid scrotum, Ureteral duplication, Epispadias, Hemivertebrae, Ectopic scrotum, Duplicated colon... ORPHA:227
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Air bronchogram, Impaired oxidative burst, Rectal abscess, Coug... OMIM:306400
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Papa Syndrome
Type I diabetes mellitus, Myositis, Proteinuria, Increased circulating antibody level ORPHA:69126
Nasolacrimal Duct Cyst
Intercostal retractions, Chronic irritative conjunctivitis, Corneal astigmatism, Episodic respira... ORPHA:141083
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Choroidal neovascularization, Cutis marmorata, Optic neuropat... OMIM:259900
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, Abnormality of masseter muscl... ORPHA:423
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Chronic kidney diseas... OMIM:615244
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, R... ORPHA:2973
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Increased circulating IgA level, Vasculitis, Erythema, Urticaria, Recurre... ORPHA:343
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Hydrou... OMIM:236700
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Congenital diaphragmatic hernia, Ambiguous genitalia, female, Ambigu... OMIM:194080
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Pleuritis, Proteinuria, Renal amyloidosis OMIM:134610
Colchicine Poisoning
Respiratory distress, Renal insufficiency, Myocarditis, Oliguria, Cardiorespiratory arrest ORPHA:31824
Holoprosencephaly 3
Cleft lip, Cleft palate, Bifid uvula, Holoprosencephaly, Solitary median maxillary central inciso... OMIM:142945
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... OMIM:308750
Congenital Tricuspid Stenosis
Pulmonary arterial hypertension, Carcinoid tumor, Tricuspid stenosis, Bacterial endocarditis ORPHA:95459
Split Cord Malformation
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl... ORPHA:573278
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis, Obesity OMIM:257500
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Frasier Syndrome
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca... OMIM:136680
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage ORPHA:238459
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Sensorineural hearing impairment, Jaundi... OMIM:617093
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypertensive retinopathy, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level... OMIM:171420
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Purpura, Radial bowing, Ulnar bowing, Sensorineural ... OMIM:605432
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Transient ischemic attack, Proteinuria, Hemolytic-uremic syndrome, Jaundice... OMIM:274150
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Retinal pigment epithelial mottling, Stage 5 chronic kidney disease, Corneal crystal... OMIM:219900
Isolated Childhood Apraxia Of Speech
High, narrow palate, Overfolded helix, Submucous cleft hard palate ORPHA:209908
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Diabetes mellitus, Proteinuria, Sensorineural hearing impairment, Cerebral artery atherosclerosis... OMIM:209010
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Bifid uterus, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia,... ORPHA:2736
Myasthenia Gravis
Myositis, Hyperthyroidism, Dyspnea, Primary adrenal insufficiency, Abnormal thymus morphology, Gl... ORPHA:589
Pure Mitochondrial Myopathy
Scapular winging, Lumbar hyperlordosis, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhab... ORPHA:254854
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Everted upper lip vermilion, Absent nipple, Abnormal oral mucosa morphology... OMIM:305100
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Oral mucosal blisters, Abnormality of the urethra, Flexion contracture, Fragile ... ORPHA:158684
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Congenital Anomalies Of Kidney And Urinary Tract 2
Back pain, Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur... OMIM:143400
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig... ORPHA:168558
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis... OMIM:103900
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... ORPHA:322
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Proteinuria, Malabsorption, Hy... OMIM:227810
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... OMIM:192445
Birk-Barel Syndrome
Microretrognathia, Reduced subcutaneous adipose tissue, Sacral dimple, Tented upper lip vermilion... OMIM:612292
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Increased urinary glycerol, Intermittent hyperventilation, Episodic tachypn... ORPHA:348
Short Stature With Microcephaly And Distinctive Facies
Microretrognathia, Syndactyly, Death in infancy, Small for gestational age, Proximal placement of... OMIM:615789
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Renal And Mullerian Duct Hypoplasia
Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele... OMIM:266810
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Optic atrophy, Proximal amyotrophy, Cochlear degeneration, Hearing i... ORPHA:95433
Denys-Drash Syndrome
Proteinuria, Male pseudohermaphroditism, Nephrotic syndrome, Gonadal dysgenesis, Nephropathy, Nep... ORPHA:220
Treacher Collins Syndrome 2
Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Microtia, Hypoplasi... OMIM:613717
Thyroid Lymphoma
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Stridor, Hypothyroidism... ORPHA:97285
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Flexion contracture, Thin ribs, Narrow mouth, Decreased body weight OMIM:614833
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977
Atelosteogenesis Type Iii
Short tubular bones of the hand, Micrognathia, High palate, Short tibia, Vertebral hypoplasia, Ab... ORPHA:56305
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Respiratory insufficiency due to muscle wea... ORPHA:18
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Respiratory distress, Torticollis, Kyphoscoliosis, Movement abnormality of the... ORPHA:98805
Goodpasture Syndrome
Nodular pattern on pulmonary HRCT, Crackles, Tachypnea, Cough, Pulmonary infiltrates, Restrictive... OMIM:233450
Hellp Syndrome
Back pain, Proteinuria, Cerebral hemorrhage, Poor wound healing, Increased body weight, Hemoglobi... ORPHA:244242
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Dysmenorrhea, Limb-girdle muscle weakness, Rhabdomyolysis, Irregular men... ORPHA:79240
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... OMIM:610655
Isolated Exencephaly
Anterior pituitary hypoplasia, Maternal diabetes, Abnormal facial skeleton morphology, Holoprosen... ORPHA:563612
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure, Acute kidney injury ORPHA:330021
Thoracic Outlet Syndrome
Varicose veins, Abnormal rib morphology ORPHA:97330
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Exercise-induced myoglo... OMIM:300559
Pyknoachondrogenesis
Craniofacial hyperostosis, Hypoplastic ischia, Short iliac bones, Micromelia, Short thorax, Abnor... ORPHA:3003
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Retinal dystrophy, Exercise-induced myoglobinuria, Rhabdomyolysis, Myopathy OMIM:300653
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Kennedy Disease
Skeletal muscle atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Te... ORPHA:481
Acquired Purpura Fulminans
Intracranial hemorrhage, Acrocyanosis, Macular purpura ORPHA:49566
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Large for gestational age, Nephrocalcinosis, A... OMIM:616026
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Optic neuropathy, Abnormal internal carotid artery morphology, Dyspne... ORPHA:391665
Craniosynostosis 4
Malar flattening, Ectopic posterior pituitary, Retrognathia, Optic nerve hypoplasia OMIM:600775
Cleft Soft Palate
Cleft soft palate OMIM:119570
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, EMG: myopathic abnormalities, Viral infec... ORPHA:57
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... ORPHA:420794
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Dyspnea, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid drop... OMIM:255125
Eosinophilic Fasciitis
Acrocyanosis, Myositis, Muscular edema, Weight loss ORPHA:3165
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Limb muscle weakness, Testicular atrophy, Decreased fertility OMIM:313200
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Retinal dystrophy, Rhabdomyolysis, Myopathy, Myoglobinuria ORPHA:713
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Mild proteinuria, Death in childhood OMIM:619685
Deafness, Autosomal Dominant 9
Vertigo, Postlingual sensorineural hearing impairment, Abnormality of the vestibulocochlear nerve... OMIM:601369
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Jaundice, Hematuria, Increased muscle glycogen content, Increased... OMIM:232800
Parietal Foramina With Cleidocranial Dysplasia
Microtia, Short clavicles OMIM:168550
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Respiratory tract infection, Pulmonary embolism, Dyspnea, Chro... ORPHA:567546
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Renal tubul... ORPHA:228302
Glycogen Storage Disease Ib
Proteinuria, Pancreatic fibrosis, Nephrolithiasis, Oral ulcer, Focal segmental glomerulosclerosis... OMIM:232220
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic acid... OMIM:251100
Neuroleptic Malignant Syndrome
Proteinuria, Urinary incontinence, Pulmonary embolism, Rhabdomyolysis, Abnormal autonomic nervous... ORPHA:94093
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Malakoplakia
Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Urinary bladder inflammation,... ORPHA:556
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Myopathy OMIM:261670
Genetic Recurrent Myoglobinuria
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Recurrent myo... ORPHA:99845
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... OMIM:137920
Vesicoureteral Reflux 3
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... OMIM:613674
Imerslund-Gräsbeck Syndrome
Proteinuria, Angular cheilitis, Weight loss, Failure to thrive, Glossitis ORPHA:35858
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria, Rhabdomyolysis OMIM:602199
Glycogen Storage Disease Ia
Decreased muscle mass, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decrease... OMIM:232200
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Palmoplantar hyperkeratosis ORPHA:2364
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Recurrent respiratory infections, Small scrotum, Tented upper lip vermilion, External genital hyp... OMIM:614231
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Neonatal respiratory... OMIM:614748
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m... OMIM:619155
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency, Rhabdomyolysis OMIM:612933
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive, Flexion contracture OMIM:618201
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... OMIM:202010
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Glycogen Storage Disease V
Dark urine, Exercise-induced rhabdomyolysis, Myoglobinuria, Rhabdomyolysis OMIM:232600
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag... ORPHA:3016
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Multiple rib fractures, Death in infancy, Femur fracture, Hydroc... OMIM:612301
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... ORPHA:2929
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency, Rhabdomyolysis OMIM:255110
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Failure to thrive, Ketonuria, Methylmalonic aciduria OMIM:251110
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, ... ORPHA:284339
Craniorachischisis
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomeli... ORPHA:63260
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Acute rhabdomyolysis OMIM:268200
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Exercise-induced rhabdomyolysis, Chronic kidney disease, Acute kidney injury, Exercise-induced my... ORPHA:284426
Xanthinuria, Type I
Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Myopathy, Hydronephrosis OMIM:278300
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria, Skeletal muscle atrophy ORPHA:98895
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Pulmonary embolism, Conjunctival icterus, Jaun... ORPHA:447
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Hypogonadism, Pulmonary fibrosis, Testicular atrophy, Oral ... OMIM:618165
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Lesch-Nyhan Syndrome
Hip dislocation, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular atrophy OMIM:300322
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... ORPHA:228116
Myoglobinuria, Recurrent
Ragged-red muscle fibers, Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Hereditary Renal Hypouricemia
Back pain, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithi... ORPHA:94088
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Rhabdomyolysis OMIM:145600
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Short lingual frenulum, Unilateral hypoplasia of pectoralis major muscle, Diastasis r... ORPHA:1521
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... OMIM:612925
Inhalational Anthrax
Respiratory distress, Dyspnea, Abnormal sweat gland morphology ORPHA:247257
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Spider hemangioma, Recurrent upper respiratory tract infections... OMIM:232240
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Conjunctival icterus, Jaundice, Cholelithiasis, Hemoglobinuria OMIM:194380
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612926
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, 4-hydroxyphenylacetic aciduria, Jaundice, 4-Hydroxyphenyl... OMIM:617156
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612924
Glycogen Storage Disease Xii
Short neck, Jaundice, Hemoglobinuria, Myopathy, Delayed puberty, Increased variability in muscle ... OMIM:611881
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Hydronephrosis, Fetal megacystis, Neonatal death, Microcolon OMIM:619362
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Testicular atrophy, Oral leukoplakia OMIM:613987
Cryoglobulinemia, Familial Mixed
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology OMIM:123550
Lumbar Syndrome
Bifid scrotum, Ambiguous genitalia, Hypospadias, Renal agenesis, Spina bifida, Bifid uterus, Cryp... ORPHA:83628
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Paroxysmal Cold Hemoglobinuria
Back pain, Abnormal urinary color, Recurrent respiratory infections, Hemoglobinuria ORPHA:90035
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Oral ulcer, Cheilitis, Hematuria, Abnormal pigmentation of ... ORPHA:536
Duodenal Atresia
Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia ORPHA:1203
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture, Weakness of... OMIM:617239
Isolated Arrhinia
Respiratory distress, Microtia, Hypoplasia of the nasal bone ORPHA:1134
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Microcolon, Megacystis, Hydronephrosis OMIM:619431
Kasabach-Merritt Syndrome
Respiratory distress, Abnormal lymphatic vessel morphology, Hypopnea, Petechiae, Purpura ORPHA:2330
Paroxysmal Nocturnal Hemoglobinuria 2
Dyspnea, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria, Limb muscle weakness, Skeletal muscle atrophy OMIM:612300
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Intestinal perforation, Rectal prolapse, Colonic stenosis, Hemoglobinuria, Acute kidney i... ORPHA:90038
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria, Jaundice, Prolonged neonatal jaundice OMIM:300908
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... OMIM:158330
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis,... ORPHA:3109
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... ORPHA:105
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Short umbilical cord, Tapered finger OMIM:618367
Fraser Syndrome 1
Abnormal small intestine morphology, Cleft palate, Abnormality of the anus OMIM:219000

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tgfb2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tgfb2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mesenchyme-specific deletion of Tgf-β1 in the embryonic lung disrupts branching morphogenesis and induces lung hypoplasia. Laboratory investigation; a journal of technical methods and pathology (April 2019) Tgfb2tm1c(EUCOMM)Hmgu 31028279
Generation of mice carrying a knockout-first and conditional-ready allele of transforming growth factor beta2 gene. Genesis (New York, N.Y. : 2000) (June 2014) Tgfb2tm1c(EUCOMM)Hmgu Tgfb2tm1a(EUCOMM)Hmgu PMC4270118

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tgfb2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tgfb2em1(IMPC)H Exon Deletion Mice
Tgfb2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tgfb2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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