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22q11 Deletion Syndrome +
Absent Eyebrows and Eyelashes with Mental Retardation
achalasia microcephaly syndrome
Agammaglobulinemia, Microcephaly, and Severe Dermatitis
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
alpha thalassemia-X-linked intellectual disability syndrome
Alves Castelo dos Santos Syndrome
amelogenesis imperfecta type 1E
Amish Lethal Microcephaly
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Aphalangia Syndactyly Microcephaly
Aplasia Cutis Congenita of Limbs Recessive
Aplasia Cutis Congenita with Intestinal Lymphangiectasia
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
Arthrogryposis and Ectodermal Dysplasia
Arthrogryposis Multiplex Congenita Whistling Face
Asparagine Synthetase Deficiency
Asymmetric Short Stature Syndrome
Ataxia-Microcephaly-Cataract Syndrome
autosomal dominant microcephaly +
Axenfeld-Rieger syndrome type 1
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Baraitser-Winter syndrome +
Basel-Vanagaite-Smirin-Yosef syndrome
Beaulieu-Boycott-Innes Syndrome
Blepharochalasis and Double Lip
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Boudhina Yedes Khiari syndrome
Brachydactyly, Type A2, With Microcephaly
Brachymesomelia Renal Syndrome
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brachytelephalangy Characteristic Facies Kallmann
Branchial Arch Syndrome X-Linked
Branchial Cleft Anomalies
Bullous Dystrophy, Hereditary Macular Type
Camptodactyly Syndrome Guadalajara Type 2
Cardioacrofacial Dysplasia +
cardiofaciocutaneous syndrome +
Cardiofacioneurodevelopmental Syndrome
cartilage-hair hypoplasia
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Cerebellar Ataxia and Ectodermal Dysplasia
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease X-linked dominant 6
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
Chromosomal Instability with Tissue-Specific Radiosensitivity
chromosome 13q14 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 17p13.1 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 Xp11.23-p11.22 duplication syndrome
Chromosome Xq28 Duplication Syndrome
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8
cleft lip-palate-ectodermal dysplasia syndrome
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 +
combined oxidative phosphorylation deficiency 2
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
congenital disorder of glycosylation type IIm
Congenital Ectodermal Dysplasia with Hearing Loss
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +
Cornelia de Lange syndrome 2
Cornelia de Lange syndrome 5
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
Cranioacrofacial Syndrome
craniodiaphyseal dysplasia +
cranioectodermal 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 Microcephaly with Chromosomal Breakage and Other Abnormalities
Curly Hair-Acral Keratoderma-Caries Syndrome
Deafness with Anhidrotic Ectodermal Dysplasia
deafness, dystonia, and cerebral hypomyelination
Dermatoosteolysis Kirghizian Type
dermatopathia pigmentosa reticularis
developmental and epileptic encephalopathy 2
developmental and epileptic encephalopathy 36
developmental and epileptic encephalopathy 9
Diaphanospondylodysostosis
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
distal arthrogryposis type 6
Ectodermal Dysplasia Adrenal Cyst
Ectodermal Dysplasia and Neurosensory Deafness
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 with Natal Teeth, Turnpenny Type
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectodermal Dysplasia, Mental Retardation, Syndactyly
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Ectodermal Dysplasia, Trichoodontoonychial Type
Ectodermal Dysplasia-Skin Fragility Syndrome
Ectodermal Dysplasia-Syndactyly Syndrome +
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
Ellis Yale Winter Syndrome
Ellis-Van Creveld syndrome +
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Erythropoietic Protoporphyria, X-Linked Dominant
Euhidrotic Ectodermal Dysplasia
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
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
female-restricted syndromic X-linked intellectual disability 99
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
fetal encasement syndrome
Focal Facial Dermal Dysplasia +
Forsythe-Wakeling Syndrome
Freire-Maia Odontotrichomelic Syndrome
Fronto-Facio-Nasal Dysplasia
Frontootopalatodigital Osteodysplasia
Galloway-Mowat syndrome +
Game Friedman Paradice Syndrome
Goldberg-Shprintzen syndrome
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Halal Setton Wang Syndrome
Hall Riggs Mental Retardation Syndrome
Harrod Doman Keele Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Hay Wells Syndrome Recessive Type
HENGEL-MAROOFIAN-SCHOLS SYNDROME
Hersh Podruch Weisskopk Syndrome
Heyn-Sproul-Jackson Syndrome
Hidrotic Ectodermal Dysplasia, Autosomal Recessive
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Hoyeraal Hreidarsson Syndrome
Humeroradial Synostosis with Craniofacial Anomalies
hypertelorism, microtia, facial clefting syndrome
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
hypohidrotic ectodermal dysplasia +
Hypospadias-Mental Retardation Syndrome
hypotonia-cystinuria syndrome
Ichthyosis Cheek Eyebrow Syndrome
immunodeficiency-centromeric instability-facial anomalies syndrome +
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
Jequier Kozlowski Skeletal Dysplasia
Johanson-Blizzard syndrome
Jones Hersh Yusk Syndrome
junctional epidermolysis bullosa with pyloric atresia
Kaufman oculocerebrofacial syndrome
Ladda Zonana Ramer syndrome
Larsen-like syndrome B3GAT3 type
Leichtman Wood Rohn Syndrome
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
linear skin defects with multiple congenital anomalies 1
linear skin defects with multiple congenital anomalies 2 A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in COX7B on chromosome Xq21.1. (DO)
linear skin defects with multiple congenital anomalies 3
Lisch epithelial corneal dystrophy
MacDermot Winter Syndrome
Mandibuloacral Dysplasia Progeroid Syndrome
Mandibuloacral Dysplasia with Type B Lipodystrophy
Mandibulofacial Dysostosis Syndrome, Bauru Type
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
mandibulofacial dysostosis, Guion-Almeida type
Marfanoid Habitus with Microcephaly and Glomerulonephritis
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, Epilepsy, and Coarse Face
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly and Chorioretinopathy +
Microcephaly Cervical Spine Fusion Anomalies
Microcephaly Deafness Syndrome
Microcephaly Microphthalmos Blindness
Microcephaly Nonsyndromal
Microcephaly Pontocerebellar Hypoplasia Dyskinesia
Microcephaly Seizures Genital Hypoplasia
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly Sparse Hair Mental Retardation Seizures
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
Microcephaly with Chorioretinopathy, Autosomal Dominant
Microcephaly with Mental Retardation and Digital Anomalies
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly with Simplified Gyral Pattern
Microcephaly with Spastic Quadriplegia
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
Microcephaly, Epilepsy, and Diabetes Syndrome +
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
microcephaly, growth deficiency, seizures, and brain malformations
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcephaly, Macrotia, and Mental Retardation
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
microcephaly, seizures, and developmental delay
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
Microcephaly-Capillary Malformation Syndrome
Microcephaly-Micromelia Syndrome
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
Milner Khallouf Gibson Syndrome
Mirhosseini-Holmes-Walton Syndrome
Morillo-Cucci Passarge Syndrome
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
Mullegama-Klein-Martinez syndrome
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
Multisystem Autoimmune Disease with Facial Dysmorphism
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Nabais Sa-de Vries Syndrome, Type 1
Nablus Mask-Like Facial Syndrome
Naegeli-Franceschetti-Jadassohn syndrome
NEMO Mutation with Immunodeficiency
Neurocutaneous Syndromes +
neurodegeneration with brain iron accumulation 5
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Neurofaciodigitorenal Syndrome
Nijmegen Breakage Syndrome-Like Disorder
non-syndromic X-linked intellectual disability 1
non-syndromic X-linked intellectual disability 107
non-syndromic X-linked intellectual disability 19
non-syndromic X-linked intellectual disability 2
non-syndromic X-linked intellectual disability 41
non-syndromic X-linked intellectual disability 63
non-syndromic X-linked intellectual disability 89
non-syndromic X-linked intellectual disability 91
non-syndromic X-linked intellectual disability 98
nonphotosensitive trichothiodystrophy 5
nonsyndromic aplasia cutis congenita
Noonan syndrome with multiple lentigines +
Oculoauriculofrontonasal Syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
oculodentodigital dysplasia +
Oculootofacial Dysplasia +
Oculopalatocerebral Syndrome
Odontomicronychial Dysplasia
Odontoonychodermal Dysplasia
Odontotrichoungual-Digital-Palmar Syndrome
Orbital Margin, Hypoplasia of
orofaciodigital syndrome +
orofaciodigital syndrome I
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
Otofacioosseous-Gonadal Syndrome
otopalatodigital syndrome spectrum disorder +
otopalatodigital syndrome type 1
otopalatodigital syndrome type 2
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
Papillon-Lefevre disease +
Partington Anderson Syndrome
photosensitive trichothiodystrophy 1
Pinheiro Freire-Maia Miranda Syndrome
Posterior Exchondrosis of Pinna
Preauricular Fistulae, Congenital
primary ovarian insufficiency 2A
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
Pseudoaminopterin Syndrome
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
pure hair and nail ectodermal dysplasia +
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Rajab Interstitial Lung Disease with Brain Calcifications 1
Reardon Hall Slaney syndrome
reducing body myopathy 1A
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay
Ritscher-Schinzel syndrome +
Robinson Miller Bensimon Syndrome
Rommen Mueller Sybert Syndrome
Rosselli-Gulienetti Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein-Taybi syndrome +
Sammartino De Crecchio Syndrome
Say Barber Miller Syndrome
scalp-ear-nipple syndrome
Schaefer Stein Oshman Syndrome
Schimke X-Linked Mental Retardation Syndrome
Schinzel-Giedion Syndrome
Schopf-Schulz-Passarge syndrome
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
Seckel Like Syndrome Type Buebel
Secretory Diarrhea, Myopathy, and Deafness
Seizures, Cortical Blindness, and Microcephaly Syndrome
Seres-Santamaria Arimany Muniz Syndrome
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects
Short Stature and Facioauriculothoracic Malformations
Short Stature and Microcephaly with Genital Anomalies
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
Short Stature-Obesity Syndrome
Silengo Lerone Pelizza Syndrome
Silver-Russell syndrome +
Simosa Cranio Facial Syndrome
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality
Splenogonadal Fusion with Limb Defects and Micrognathia
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepimetaphyseal dysplasia, Genevieve-type
Spondyloocular Syndrome, Autosomal Recessive
syndromic microphthalmia 13
syndromic microphthalmia 2
syndromic microphthalmia 8
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Najm type
syndromic X-linked intellectual disability Shrimpton type
syndromic X-linked intellectual disorder Lujan-Fryns-type
Taurodontia, Absent Teeth, Sparse Hair
Teebi Hypertelorism Syndrome +
TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1
TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities
Tollner Horst Manzke Syndrome
Total Anonychia with Microcephaly
trichodontoosseous syndrome
Trichoodontoonychial Dysplasia
Trueb Burg Bottani Syndrome
Urioste Martinez-Frias Syndrome
Van Bogaert-Hozay Syndrome
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
Warburton Anyane Yeboa Syndrome
Wiedemann Grosse Dibbern Syndrome
Winship Viljoen Leary Syndrome
Winter Shortland Temple Syndrome
X-linked chondrodysplasia punctata 2
X-linked dominant hypophosphatemic rickets
X-linked endothelial corneal dystrophy
Zerres Rietschel Majewski Syndrome
Zimmerman Laband Syndrome +
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