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22q11 Deletion Syndrome +
3-methylglutaconic aciduria type 5
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
agenesis of the corpus callosum with peripheral neuropathy
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Arthrogryposis Multiplex Congenita Whistling Face
Asymmetric Short Stature Syndrome
autosomal dominant cerebellar ataxia +
autosomal recessive cerebellar ataxia +
Axenfeld-Rieger syndrome type 1
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Baraitser-Winter syndrome +
Ben Ari Shuper Mimouni Syndrome
Benign Cerebellar Ataxia with Thermoanalgesia
Blepharochalasis and Double Lip
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Brachydactyly-Nystagmus-Cerebellar Ataxia
Brachymesomelia Renal Syndrome
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brachytelephalangy Characteristic Facies Kallmann
Braddock Carey Syndrome +
Branchial Cleft Anomalies
Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia
Calloso-Genital Dysplasia
Camptodactyly Syndrome Guadalajara Type 2
Cardioacrofacial Dysplasia +
Cerebellar Ataxia and Ectodermal Dysplasia
Cerebellar Ataxia and Hypergonadotropic Hypogonadism
Cerebellar Ataxia and Neurosensory Deafness
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebellofaciodental syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
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 8q21.11 deletion syndrome
Chromosome Xq28 Duplication Syndrome
Chudley-Mccullough syndrome
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cleidocranial dysplasia +
Cleidocranial Dysplasia 2
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus
combined oxidative phosphorylation deficiency 2
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +
corpus callosum agenesis-abnormal genitalia syndrome
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
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
Curatolo Cilio Pessagno Syndrome
Curly Hair-Acral Keratoderma-Caries Syndrome
Diaphanospondylodysostosis
diphthamide deficiency syndrome 1
distal arthrogryposis type 6
Duker Weiss Siber syndrome
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
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
familial hemiplegic migraine 1
Faye-Petersen Ward Carey Syndrome
fetal encasement syndrome
Fronto-Facio-Nasal Dysplasia
Frontootopalatodigital Osteodysplasia
Furukawa Takagi Nakao Syndrome
Game Friedman Paradice Syndrome
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Goldberg-Shprintzen syndrome
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
Hall Riggs Mental Retardation Syndrome
Harrod Doman Keele Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Hengel-Maroofian-Schols syndrome
hereditary spastic paraplegia 11
Humeroradial Synostosis with Craniofacial Anomalies
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum
hypomyelinating leukodystrophy 8
hypotonia-cystinuria syndrome
Ichthyosis Cheek Eyebrow Syndrome
immunodeficiency-centromeric instability-facial anomalies syndrome +
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
ITM2B-related cerebral amyloid angiopathy 2
Jequier Kozlowski Skeletal Dysplasia
Jones Hersh Yusk Syndrome
Kozlowski Ouvrier Syndrome
Larsen-like syndrome B3GAT3 type
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy
Leichtman Wood Rohn Syndrome
linear skin defects with multiple congenital anomalies 2
Lissencephaly and Agenesis of Corpus Callosum
Mandibuloacral Dysplasia Progeroid Syndrome
mandibuloacral dysplasia type B lipodystrophy
Mandibulofacial Dysostosis Syndrome, Bauru Type
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
Maxillofacial Abnormalities +
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps
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
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate
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
Mitochondrial Myopathy, and Ataxia
Morillo-Cucci Passarge Syndrome
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
Mullegama-Klein-Martinez syndrome
Multisystem Autoimmune Disease with Facial Dysmorphism
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Myoclonus, Cerebellar Ataxia, and Deafness
Nablus Mask-Like Facial Syndrome
Neuhauser Eichner Opitz Syndrome
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Neurofaciodigitorenal Syndrome
Noonan syndrome with multiple lentigines +
Oculoauriculofrontonasal Syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
oculodentodigital dysplasia +
Oculootofacial Dysplasia +
Orbital Margin, Hypoplasia of
orofaciodigital syndrome +
OTOFACIAL NEURODEVELOPMENTAL SYNDROME
Otofacioosseous-Gonadal Syndrome
otopalatodigital syndrome spectrum disorder +
Partial Agenesis of Corpus Callosum +
Posterior Exchondrosis of Pinna
Preauricular Fistulae, Congenital
Pseudoaminopterin Syndrome
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Reardon Hall Slaney syndrome
Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Ritscher-Schinzel syndrome +
Rommen Mueller Sybert Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein-Taybi syndrome +
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, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
SHORT STATURE-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
short-rib thoracic dysplasia 9 with or without polydactyly
Silver-Russell syndrome +
Simosa Cranio Facial Syndrome
spastic tetraplegia, thin corpus callosum, and progressive microcephaly
Splenogonadal Fusion with Limb Defects and Micrognathia
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Spondyloocular Syndrome, Autosomal Recessive
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disorder Lujan-Fryns-type
Teebi hypertelorism syndrome +
Tessadori-van Haaften Neurodevelopmental Syndrome 2
Tollner Horst Manzke Syndrome
trichodontoosseous syndrome
Urioste Martinez-Frias Syndrome
Van Bogaert-Hozay Syndrome
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
Wiedemann Grosse Dibbern Syndrome
Winter Shortland Temple Syndrome
Zimmerman Laband Syndrome +
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