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22q11 Deletion Syndrome +
acrocardiofacial syndrome
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Al Gazali Aziz Salem Syndrome
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Alpha-2-Deficient Collagen Disease
anterior segment dysgenesis +
Aortico-Ventricular Tunnel
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
arrhythmogenic right ventricular cardiomyopathy +
arterial tortuosity syndrome
Arthrogryposis Multiplex Congenita Whistling Face
Asymmetric Short Stature Syndrome
autoimmune disease of skin and connective tissue +
autosomal genetic disease +
Axenfeld-Rieger syndrome type 1
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Baraitser-Winter syndrome +
Beaulieu-Boycott-Innes Syndrome
Beemer Ertbruggen Syndrome
Bilateral Amastia with Ureteral Triplication and Dysmorphism
Blepharochalasis and Double Lip
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Bone Fragility with Contractures, Arterial Rupture, and Deafness
Brachymesomelia Renal Syndrome
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brachytelephalangy Characteristic Facies Kallmann
Branchial Cleft Anomalies
Camptodactyly Syndrome Guadalajara Type 2
Camurati-Engelmann disease +
Cardiac Valvular Dysplasia +
Cardiac-Urogenital Syndrome
Cardioacrofacial Dysplasia +
Cardioauditory Syndrome of Sanchez Cascos
cardiofaciocutaneous syndrome +
Cardiofacioneurodevelopmental Syndrome
catecholaminergic polymorphic ventricular tachycardia +
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
chondrodysplasia punctata +
chromosome 13q14 deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
chromosome 1q21.1 duplication syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 6pter-p24 deletion syndrome
chromosome 8q21.11 deletion syndrome
Chromosome Xq28 Duplication Syndrome
chronic interstitial cystitis
cleft palate, cardiac defects, and intellectual disabillity
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cleidocranial dysplasia +
Cleidocranial Dysplasia 2
combined oxidative phosphorylation deficiency 2
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Congenital Fascial Dystrophy
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital heart defects, hamartomas of tongue, and polysyndactyly
Congenital Heart Defects, Multiple Types +
Congenital Heart Defects, X-Linked +
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +
congenital vertical talus
Connective Tissue Neoplasms +
Conotruncal Cardiac Defects
Cornelia de Lange syndrome +
Coronary Vessel Anomalies +
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
corticosteroid-binding globulin deficiency
Cranioacrofacial Syndrome
craniodiaphyseal dysplasia +
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells
Craniofacial Dyssynostosis
craniofacial-deafness-hand syndrome
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
Craniomicromelic Syndrome
Curly Hair-Acral Keratoderma-Caries Syndrome
cutaneous lupus erythematosus +
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
dextro-looped transposition of the great arteries +
Diaphanospondylodysostosis
dilated cardiomyopathy 1BB
dilated cardiomyopathy 1EE
dilated cardiomyopathy 1FF
dilated cardiomyopathy 1G
dilated cardiomyopathy 1GG
dilated cardiomyopathy 1H
dilated cardiomyopathy 1I
dilated cardiomyopathy 1J
dilated cardiomyopathy 1K
dilated cardiomyopathy 1L
dilated cardiomyopathy 1M
dilated cardiomyopathy 1O
dilated cardiomyopathy 1P
dilated cardiomyopathy 1Q
dilated cardiomyopathy 1T
dilated cardiomyopathy 1W
dilated cardiomyopathy 1Z
diphthamide deficiency syndrome 1
distal arthrogryposis type 6
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ectrodactyly Cardiopathy Dysmorphism
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia
Ellis Yale Winter Syndrome
erythrokeratodermia variabilis +
Facial Dysmorphism with Multiple Malformations +
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Faciocardiomelic Syndrome
Faciocardiorenal Syndrome
Familial Anomalous Origin of Right Pulmonary Artery
familial hemophagocytic lymphohistiocytosis 5
familial nephrotic syndrome +
Fanconi anemia complementation group F
Fanconi anemia complementation group G
Fanconi anemia complementation group J
Fanconi anemia complementation group N
fetal akinesia deformation sequence syndrome +
fetal encasement syndrome
fibrodysplasia ossificans progressiva
Fronto-Facio-Nasal Dysplasia
Frontootopalatodigital Osteodysplasia
Game Friedman Paradice Syndrome
Gay Feinmesser Cohen Syndrome
gene duplication disease +
Genito Palato Cardiac Syndrome
Goldberg-Shprintzen syndrome
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Hall Riggs Mental Retardation Syndrome
Harrod Doman Keele Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Heart Defects Limb Shortening
Heart-Hand Syndrome, Slovenian Type
Heart-Hand Syndrome, Spanish Type
Hengel-Maroofian-Schols syndrome
hereditary combined deficiency of vitamin K-dependent clotting factors +
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Hittner Hirsch Kreh Syndrome
Ho Kaufman Mcalister Syndrome
Holzgreve-Wagner-Rehder syndrome
Humeroradial Synostosis with Craniofacial Anomalies
hyaline fibromatosis syndrome
hypertelorism, microtia, facial clefting syndrome
hypoplastic left heart syndrome +
hypoplastic right heart syndrome
hypotonia-cystinuria syndrome
Ichthyosis Cheek Eyebrow Syndrome
immunodeficiency-centromeric instability-facial anomalies syndrome +
infantile histiocytoid cardiomyopathy
inflammatory bowel disease 1
inflammatory bowel disease 10
inflammatory bowel disease 11
inflammatory bowel disease 12
inflammatory bowel disease 13
inflammatory bowel disease 14
inflammatory bowel disease 15
inflammatory bowel disease 16
inflammatory bowel disease 17
inflammatory bowel disease 18
inflammatory bowel disease 19
inflammatory bowel disease 2
inflammatory bowel disease 20
inflammatory bowel disease 22
inflammatory bowel disease 23
inflammatory bowel disease 24
inflammatory bowel disease 26
inflammatory bowel disease 27
inflammatory bowel disease 4
inflammatory bowel disease 5
inflammatory bowel disease 6
inflammatory bowel disease 7
inflammatory bowel disease 8
inflammatory bowel disease 9
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
interstitial lung disease +
isolated microphthalmia 4
Isolated Noncompaction of the Ventricular Myocardium +
Jequier Kozlowski Skeletal Dysplasia
Jones Hersh Yusk Syndrome
Kasznica Carlson Coppedge Syndrome
Larsen-like syndrome B3GAT3 type
Leber congenital amaurosis 10
Leber congenital amaurosis 3
Leber congenital amaurosis 7
Leichtman Wood Rohn Syndrome
Lethal Faciocardiomelic Dysplasia
linear skin defects with multiple congenital anomalies 2
Mandibuloacral Dysplasia Progeroid Syndrome
mandibuloacral dysplasia type B lipodystrophy
Mandibulofacial Dysostosis Syndrome, Bauru Type
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
Maxillofacial Abnormalities +
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
Meacham Winn Culler Syndrome
Mehta Lewis Patton Syndrome
Membranous Subaortic Stenosis
Menke-Hennekam Syndrome +
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Mexican Cardiomelic Dysplasia
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Morillo-Cucci Passarge Syndrome
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
Mullegama-Klein-Martinez syndrome
multiple epiphyseal dysplasia due to collagen 9 anomaly +
Multisystem Autoimmune Disease with Facial Dysmorphism
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Nablus Mask-Like Facial Syndrome
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Neurofaciodigitorenal Syndrome
neurofibromatosis-Noonan syndrome
Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects
Noonan syndrome + A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. (DO)
Noonan syndrome with multiple lentigines +
Noonan syndrome-like disorder with loose anagen hair +
Oculoauriculofrontonasal Syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
oculodentodigital dysplasia +
Oculootofacial Dysplasia +
Orbital Margin, Hypoplasia of
orofaciodigital syndrome +
osteogenesis imperfecta type 14
osteogenesis imperfecta type 6
Otofacioosseous-Gonadal Syndrome
otopalatodigital syndrome spectrum disorder +
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
patent ductus arteriosus +
plantar fascial fibromatosis
Posterior Exchondrosis of Pinna
posterior polymorphous corneal dystrophy 3
postural orthostatic tachycardia syndrome
Powell Chandra Saal Syndrome
Preauricular Fistulae, Congenital
primary congenital glaucoma +
Pseudoaminopterin Syndrome
Pseudodiastrophic Dysplasia
pseudoxanthoma elasticum +
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
Pulmonary Atresia with Intact Ventricular Septum
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Reardon Hall Slaney syndrome
Right Ventricle Hypoplasia
Ritscher-Schinzel syndrome +
Rommen Mueller Sybert Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein-Taybi syndrome +
Sacral Meningocele Conotruncal Heart Defects
Schaefer Stein Oshman Syndrome
Schinzel Giedion syndrome
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
Seckel Like Syndrome Type Buebel
Short Stature and Facioauriculothoracic Malformations
Short Stature, Developmental Delay, and Congenital Heart Defects
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
SHORT STATURE-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
SHOX-related short stature
Silver-Russell syndrome +
Simosa Cranio Facial Syndrome
Simpson-Golabi-Behmel syndrome type 1
Splenogonadal Fusion with Limb Defects and Micrognathia
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Spondyloocular Syndrome, Autosomal Recessive
Structural Heart Defects and Renal Anomalies Syndrome
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disorder Lujan-Fryns-type
systemic lupus erythematosus +
Teebi hypertelorism syndrome +
Tessadori-van Haaften Neurodevelopmental Syndrome 2
Testicular Anomalies with or without Congenital Heart Disease
Tollner Horst Manzke Syndrome
trichodontoosseous syndrome
Urioste Martinez-Frias Syndrome
Van Bogaert-Hozay Syndrome
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
Ventricular Extrasystoles Perodactyly Robin Sequence
Verloove-Vanhorick Brubakk Syndrome
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
Wiedemann Grosse Dibbern Syndrome
Winter Shortland Temple Syndrome
Wolff-Parkinson-White syndrome
X-linked cardiac valvular dysplasia
X-linked monogenic disease +
Y-linked monogenic disease +
Zimmerman Laband Syndrome +
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