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22q11 Deletion Syndrome +
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Al Gazali Aziz Salem Syndrome
Al Gazali Hirschsprung Syndrome
Aloi Tomasini Isaia Syndrome
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Anodontia of Permanent Dentition
anogenital venereal wart +
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
Arthrogryposis Multiplex Congenita Whistling Face
Asymmetric Short Stature Syndrome
autosomal recessive cutis laxa type III +
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Axenfeld-Rieger syndrome type 1 An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. (DO)
Axenfeld-Rieger syndrome type 2
Axenfeld-Rieger syndrome type 3
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Baraitser-Winter syndrome +
Beaulieu-Boycott-Innes Syndrome
Beemer Ertbruggen Syndrome
Blepharochalasis and Double Lip
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
brachycephaly, trichomegaly, and developmental delay
Brachymesomelia Renal Syndrome
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brachytelephalangy Characteristic Facies Kallmann
Braddock Carey Syndrome +
Branchial Cleft Anomalies
Camptodactyly Syndrome Guadalajara Type 2
Cardioacrofacial Dysplasia +
cardiofaciocutaneous syndrome +
Cardiofacioneurodevelopmental Syndrome
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebellofaciodental syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
chromosome 13q14 deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 5p13 duplication syndrome
chromosome 8q21.11 deletion syndrome
Chromosome Xq28 Duplication Syndrome
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME
Cleft Palate, Deafness, and Oligodontia
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cleidocranial dysplasia +
Cleidocranial Dysplasia 2
cold-induced sweating syndrome +
combined oxidative phosphorylation deficiency 2
Combined Pituitary Hormone Deficiency 1
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism
congenital disorder of deglycosylation 2
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Micromelic Dysplasia with Dislocation of Radius +
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
Cortical Blindness, Retardation, and Postaxial Polydactyly
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
Craniofacioskeletal Syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
Craniomicromelic Syndrome
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism
Cree Mental Retardation Syndrome
Crumpled Helices and Small Mouth
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies
Curly Hair-Acral Keratoderma-Caries Syndrome
Cyprus Facial Neuromusculoskeletal Syndrome
Deafness-Craniofacial Syndrome
Deafness-Oligodontia Syndrome
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease
Der Kaloustian Mcintosh Silver Syndrome
Dermatoosteolysis Kirghizian Type
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES
developmental delay, dysmorphic facies, and brain anomalies
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
Diaphanospondylodysostosis
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis
diphthamide deficiency syndrome 1
diphthamide deficiency syndrome 2
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
distal 10q deletion syndrome
distal arthrogryposis type 6
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies
Dysmyelinating Leukodystrophy with Oligodontia
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Ectodermal Dysplasia, Trichoodontoonychial Type
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ectrodactyly Cardiopathy Dysmorphism
Edinburgh Malformation Syndrome
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
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification
Faciocardiomelic Syndrome
Feingold Trainer Syndrome
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
fetal encasement syndrome
fibroepithelial polyp of the anus
Fronto-Facio-Nasal Dysplasia
Frontootopalatodigital Osteodysplasia
Game Friedman Paradice Syndrome
Gingival Fibromatosis with Distinctive Facies
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Goldberg-Shprintzen syndrome
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
Growth Mental Deficiency Syndrome of Myhre
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Hall Riggs Mental Retardation Syndrome
Harrod Doman Keele Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Hengel-Maroofian-Schols syndrome
hereditary spastic paraplegia 23
Humeroradial Synostosis with Craniofacial Anomalies
Hypodontia Oligodontia with Orofacial Cleft
hypohidrotic ectodermal dysplasia +
hypomyelinating leukodystrophy 7
hypotonia-cystinuria syndrome
Ichthyosis Cheek Eyebrow Syndrome
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies
immunodeficiency-centromeric instability-facial anomalies syndrome +
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age
Intellectual Developmental Disorder with Autism and Dysmorphic Facies
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies
intellectual developmental disorder with ocular anomalies and distinctive facial features
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
Iris Dysplasia Hypertelorism Deafness
Jequier Kozlowski Skeletal Dysplasia
Jones Hersh Yusk Syndrome
Kaufman oculocerebrofacial syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski-Krajewska Syndrome
Larsen-like syndrome B3GAT3 type
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation
Leichtman Wood Rohn Syndrome
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
linear skin defects with multiple congenital anomalies 2
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation
macrocephaly-autism syndrome
Malocclusion and Short Stature
Mandibuloacral Dysplasia Progeroid Syndrome
mandibuloacral dysplasia type B lipodystrophy
Mandibulofacial Dysostosis Syndrome, Bauru Type
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
MARBACH-RUSTAD PROGEROID SYNDROME
Marfanoid Mental Retardation Syndrome, Autosomal
Maxillofacial Abnormalities +
McPherson Clemens Syndrome
Mehta Lewis Patton Syndrome
Menke-Hennekam Syndrome +
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation Mietens Weber Type
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation, Buenos Aires Type
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
Microcephaly Deafness Syndrome
Microcephaly with Cervical Spine Fusion Anomalies
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microdontia Hypodontia Short Stature
Microphthalmia and Mental Deficiency
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 Pterygium Syndrome, X-Linked
Multisystem Autoimmune Disease with Facial Dysmorphism
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Myoectodermal Gonadal Dysgenesis Syndrome
Nabais Sa-de Vries Syndrome, Type 1
Nabais Sa-de Vries Syndrome, Type 2
Nablus Mask-Like Facial Syndrome
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly
NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES
neurodevelopmental disorder with speech impairment and dysmorphic facies
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Neurofaciodigitorenal Syndrome
NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
NF1 Microduplication Syndrome
Nicolaides-Baraitser syndrome
Night Blindness Skeletal Anomalies Unusual Facies
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features
Noonan syndrome with multiple lentigines +
Oculoauriculofrontonasal Syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
oculodentodigital dysplasia +
Oculootofacial Dysplasia +
Oculoskeletodental Syndrome
Ohdo syndrome, SBBYS variant
Oligodontia-Colorectal Cancer Syndrome
Omphalocele Exstrophy Imperforate Anus
Omphalocele, Cleft Palate Syndrome Lethal
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects
Orbital Margin, Hypoplasia of
Oroacral Syndrome, Verloes-Koulischer Type
orofaciodigital syndrome +
Osteolysis Syndrome, Recessive
OTOFACIAL NEURODEVELOPMENTAL SYNDROME
Otofacioosseous-Gonadal Syndrome
Otoonychoperoneal Syndrome
otopalatodigital syndrome spectrum disorder +
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Palant Cleft Palate Syndrome
Partington Anderson Syndrome
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis
Pfeiffer Palm Teller Syndrome
Pierre Robin Sequence with Facial and Digital Anomalies
Pinheiro Freire-Maia Miranda Syndrome
Posterior Exchondrosis of Pinna
Preauricular Fistulae, Congenital
Progeroid Facial Appearance with Hand Anomalies
Pseudoaminopterin Syndrome
Pseudodiastrophic Dysplasia
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Radioulnar Synostosis Retinal Pigment Abnormalities
Ramos Arroyo Clark Syndrome
Reardon Hall Slaney syndrome
Renal and Mullerian Duct Hypoplasia +
Renal Dysplasia - Limb Defects Syndrome
Ritscher-Schinzel syndrome +
Robin Sequence with Distinctive Facial Appearance and Brachydactyly
Roifman-Chitayat Syndrome
Rommen Mueller Sybert Syndrome
Rosenthal-Kloepfer Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein-Taybi syndrome +
Schaefer Stein Oshman Syndrome
Schinzel Giedion syndrome
Schopf-Schulz-Passarge syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
Seckel Like Syndrome Type Buebel
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects
Short Stature and Facioauriculothoracic Malformations
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
SHORT STATURE-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
Shprintzen Omphalocele Syndrome
Silver-Russell syndrome +
Silver-Russell Syndrome 3
Simosa Cranio Facial Syndrome
Snijders Blok-Campeau Syndrome
solitary median maxillary central incisor
Spinocerebellar Ataxia with Dysmorphism
Splenogonadal Fusion with Limb Defects and Micrognathia
Split-Hand and Split-Foot With Hypodontia
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepiphyseal dysplasia tarda with characteristic facies
Spondyloepiphyseal Dysplasia Tarda, Toledo Type
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Spondyloocular Syndrome, Autosomal Recessive
Stolerman neurodevelopmental syndrome
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Turner type
syndromic X-linked intellectual disorder Lujan-Fryns-type
Taurodontia, Absent Teeth, Sparse Hair
Teebi hypertelorism syndrome +
Tessadori-van Haaften Neurodevelopmental Syndrome 2
Thai Symphalangism Syndrome
Thomas Jewett Raines Syndrome
Thumb Deformity, Alopecia, Pigmentation Anomaly
Tollner Horst Manzke Syndrome
trichodontoosseous syndrome
trichohepatoenteric syndrome +
trichorhinophalangeal syndrome type III
Urioste Martinez-Frias Syndrome
Uruguay faciocardiomusculoskeletal syndrome
Van Bogaert-Hozay Syndrome
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
White Forelock with Malformations
Wiedemann Grosse Dibbern Syndrome
Wiedemann-Steiner syndrome
Winter Harding Hyde Syndrome
Winter Shortland Temple Syndrome
Zadik Barak Levin Syndrome
Zimmerman Laband Syndrome +
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