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22q11 Deletion Syndrome +
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Allan-Herndon-Dudley syndrome
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Arthrogryposis Multiplex Congenita Whistling Face
Asymmetric Short Stature Syndrome
AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
Axenfeld-Rieger syndrome type 1
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Baraitser-Winter syndrome +
Basilicata-Akhtar syndrome
Blepharochalasis and Double Lip
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Borjeson-Forssman-Lehmann syndrome
Brachymesomelia Renal Syndrome
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brachytelephalangy Characteristic Facies Kallmann
Branchial Cleft Anomalies
Camptodactyly Syndrome Guadalajara Type 2
Cardioacrofacial Dysplasia +
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
Charcot-Marie-Tooth disease X-linked recessive 2
Charcot-Marie-Tooth disease X-linked recessive 3
Charcot-Marie-Tooth disease X-linked recessive 4
Charcot-Marie-Tooth disease X-linked recessive 5
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
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 oxidative phosphorylation deficiency 2
combined oxidative phosphorylation deficiency 6
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
congenital disorder of glycosylation Icc
congenital disorder of glycosylation Iy
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 +
congenital nongoitrous hypothyroidism 9
congenital nonspherocytic hemolytic anemia 9
congenital stationary night blindness 1A
congenital stationary night blindness 2A
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
Curly Hair-Acral Keratoderma-Caries Syndrome
deafness-intellectual disability, Martin-Probst type syndrome
developmental and epileptic encephalopathy 1
developmental and epileptic encephalopathy 8
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Diaphanospondylodysostosis
diphthamide deficiency syndrome 1
distal arthrogryposis type 6
Duchenne muscular dystrophy +
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
Fanconi anemia complementation group B
female-restricted syndromic X-linked intellectual disability 99
female-restricted Wieacker-Wolff syndrome
fetal encasement syndrome
Fronto-Facio-Nasal Dysplasia
frontometaphyseal dysplasia 1
Frontootopalatodigital Osteodysplasia
Galloway-Mowat syndrome 2
Game Friedman Paradice Syndrome
glycogen storage disease IXA
glycogen storage disease IXD
glycogen storage disease VIII
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 sensory neuropathy X-linked
hereditary spastic paraplegia 16
hereditary spastic paraplegia 2
hereditary spastic paraplegia 34
Holoprosencephaly 13, X-linked
HRPT-related hyperuricemia
Humeroradial Synostosis with Craniofacial Anomalies
hypogonadotropic hypogonadism 1 with or without anosmia
hypotonia-cystinuria syndrome
Ichthyosis Cheek Eyebrow Syndrome
ichthyosis follicularis-alopecia-photophobia syndrome 1
IGSF1 deficiency syndrome
immune dysregulation-polyendocrinopathy-enteropathy-X-linked 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
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE
isolated growth hormone deficiency type III
Jequier Kozlowski Skeletal Dysplasia
Jones Hersh Yusk Syndrome
Larsen-like syndrome B3GAT3 type
Leichtman Wood Rohn Syndrome
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 +
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
Mental Retardation, X-Linked, Syndromic, Ube2a-Related
methylmalonic acidemia and homocysteinemia cblX type
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 A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25. (DO)
multiple congenital anomalies-hypotonia-seizures syndrome 2
Multisystem Autoimmune Disease with Facial Dysmorphism
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Nablus Mask-Like Facial Syndrome
nephrogenic syndrome of inappropriate antidiuresis
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-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Neurofaciodigitorenal Syndrome
non-syndromic X-linked intellectual disability 100
non-syndromic X-linked intellectual disability 101
non-syndromic X-linked intellectual disability 103
non-syndromic X-linked intellectual disability 104
non-syndromic X-linked intellectual disability 105
non-syndromic X-linked intellectual disability 21
non-syndromic X-linked intellectual disability 30
non-syndromic X-linked intellectual disability 46
non-syndromic X-linked intellectual disability 53
non-syndromic X-linked intellectual disability 58
non-syndromic X-linked intellectual disability 72
non-syndromic X-linked intellectual disability 73
non-syndromic X-linked intellectual disability 77
non-syndromic X-linked intellectual disability 81
non-syndromic X-linked intellectual disability 82
non-syndromic X-linked intellectual disability 84
non-syndromic X-linked intellectual disability 9
non-syndromic X-linked intellectual disability 90
non-syndromic X-linked intellectual disability 92
non-syndromic X-linked intellectual disability 93
non-syndromic X-linked intellectual disability 96
non-syndromic X-linked intellectual disability 99
non-syndromic X-linked intellectual disability ARX-related
Noonan syndrome with multiple lentigines +
nuclear type mitochondrial complex I deficiency 12
nuclear type mitochondrial complex I deficiency 30
Oculoauriculofrontonasal Syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
oculocerebrorenal syndrome +
oculodentodigital dysplasia +
Oculootofacial Dysplasia +
Orbital Margin, Hypoplasia of
orofaciodigital syndrome +
orofaciodigital syndrome VIII
osteogenesis imperfecta type 19
OTOFACIAL NEURODEVELOPMENTAL SYNDROME
Otofacioosseous-Gonadal Syndrome
otopalatodigital syndrome spectrum disorder +
partial androgen insensitivity syndrome
Pelizaeus-Merzbacher disease +
phosphoglycerate kinase 1 deficiency
phosphoribosylpyrophosphate synthetase superactivity
Posterior Exchondrosis of Pinna
Preauricular Fistulae, Congenital
primary ovarian insufficiency 2B
Pseudoaminopterin Syndrome
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Reardon Hall Slaney syndrome
Ritscher-Schinzel syndrome +
Ritscher-Schinzel syndrome 2
Rommen Mueller Sybert Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein-Taybi syndrome +
Schaefer Stein Oshman Syndrome
Schimke X-Linked Mental Retardation Syndrome
Schinzel Giedion syndrome
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
Seckel Like Syndrome Type Buebel
severe congenital encephalopathy due to MECP2 mutation
Short Stature and Facioauriculothoracic Malformations
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
SHORT STATURE-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
Silver-Russell syndrome +
Simosa Cranio Facial Syndrome
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
spastic paraplegia with deafness
Splenogonadal Fusion with Limb Defects and Micrognathia
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Spondyloocular Syndrome, Autosomal Recessive
Stocco Dos Santos type X-linked intellectual disability
syndromic X-linked intellectual developmental disorder 37
syndromic X-linked intellectual developmental disorder Bain type
syndromic X-linked intellectual disability 12
syndromic X-linked intellectual disability 14
syndromic X-linked intellectual disability 17
syndromic X-linked intellectual disability 33
syndromic X-linked intellectual disability 34
syndromic X-linked intellectual disability 35
syndromic X-linked intellectual disability 5
syndromic X-linked intellectual disability 7
syndromic X-linked intellectual disability 94
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Cabezas type
syndromic X-linked intellectual disability Chudley-Schwartz type
syndromic X-linked intellectual disability Claes-Jensen type
syndromic X-linked intellectual disability Hedera type
syndromic X-linked intellectual disability Lubs type
syndromic X-linked intellectual disability Najm type
syndromic X-linked intellectual disability Nascimento type
syndromic X-linked intellectual disability Pilorge type
syndromic X-linked intellectual disability Raymond type
syndromic X-linked intellectual disability Shashi type
syndromic X-linked intellectual disability Shrimpton type
syndromic X-linked intellectual disability Siderius type
syndromic X-linked intellectual disability Snyder type
syndromic X-linked intellectual disability Turner type
syndromic X-linked intellectual disability type 10
syndromic X-linked intellectual disorder Lujan-Fryns-type
syndromic X-linked mental retardation Hough type
Teebi hypertelorism syndrome +
Tessadori-van Haaften Neurodevelopmental Syndrome 2
Tollner Horst Manzke Syndrome
Tonne-Kalscheuer syndrome
trichodontoosseous syndrome
Urioste Martinez-Frias Syndrome
Van Bogaert-Hozay Syndrome
Van Esch-O'Driscoll syndrome
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
Wiedemann Grosse Dibbern Syndrome
Winter Shortland Temple Syndrome
Wiskott-Aldrich syndrome +
X-linked Aarskog syndrome
X-linked adrenal hypoplasia congenita
X-linked agammaglobulinemia +
X-linked atrophic macular degeneration
X-linked chondrodysplasia punctata 1
X-linked chronic granulomatous disease
X-linked chronic idiopathic intestinal pseudo-obstruction
X-linked cone-rod dystrophy 3
X-linked congenital hemolytic anemia
X-linked distal spinal muscular atrophy 3
X-linked dyserythropoietic anemia
X-linked dyskeratosis congenita +
X-linked dystonia-parkinsonism
X-linked Emery-Dreifuss muscular dystrophy 1
X-linked Emery-Dreifuss muscular dystrophy 6
X-linked hyper IgM syndrome
X-Linked immunodeficiency 74
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
X-linked intellectual developmental disorder 108
X-linked intellectual developmental disorder 109
X-Linked Intellectual Developmental Disorder 110
X-Linked Intellectual Developmental Disorder 112
X-Linked Intellectual Developmental Disorder 113
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked intellectual disability-short stature-overweight syndrome
X-linked juvenile retinoschisis 1
X-linked keratosis follicularis spinulosa decalvans
X-linked lymphoproliferative syndrome 1
X-linked lymphoproliferative syndrome 2
X-linked mental retardation Gustavson type
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
X-linked mental retardation-hypotonic facies syndrome-1
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques
X-linked myopathy with excessive autophagy
X-linked nephrogenic diabetes insipidus
X-linked nephrolithiasis type I
X-linked parkinsonism-spasticity syndrome
X-linked properdin deficiency
X-linked recessive hypophosphatemic rickets
X-linked severe combined immunodeficiency
X-linked severe congenital neutropenia
X-linked sideroblastic anemia with ataxia
X-linked spermatogenic failure 2
X-linked spermatogenic failure 3
X-linked spermatogenic failure 7
X-linked spinal muscular atrophy 2
X-linked spinocerebellar ataxia 1
X-linked spinocerebellar ataxia 5
X-linked spondyloepimetaphyseal dysplasia +
X-linked spondyloepiphyseal dysplasia tarda
X-linked thrombocytopenia with beta-thalassemia
X-linked VACTERL association
Zimmerman Laband Syndrome +
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