|
|
16Q24.3 Microdeletion Syndrome
22q11 Deletion Syndrome +
3-methylglutaconic aciduria type 4
ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
Absent Eyebrows and Eyelashes with Mental Retardation
achalasia microcephaly syndrome
Acrocephalopolydactylous Dysplasia
Acromegaloid Facial Appearance Syndrome
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
acromesomelic dysplasia-3
Adducted Thumbs Syndrome +
Agammaglobulinemia, Microcephaly, and Severe Dermatitis
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Aksu von Stockhausen Syndrome
Al Gazali Aziz Salem Syndrome
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Amish Lethal Microcephaly
Aphalangia Syndactyly Microcephaly
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
Asparagine Synthetase Deficiency
asphyxiating thoracic dystrophy +
Ataxia-Microcephaly-Cataract Syndrome
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
autosomal dominant intellectual developmental disorder 22
autosomal dominant microcephaly +
autosomal recessive congenital ichthyosis +
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Axial Mesodermal Dysplasia Spectrum
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Bagatelle Cassidy Syndrome
Bamforth-Lazarus syndrome
Baraitser-Winter syndrome +
Basel-Vanagaite-Smirin-Yosef syndrome
Beaulieu-Boycott-Innes Syndrome
Beckwith-Wiedemann syndrome +
Ben Ari Shuper Mimouni Syndrome
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Ureidopropionase Deficiency
Bifid Femur with Monodactylous Ectrodactyly
Bilateral Amastia with Ureteral Triplication and Dysmorphism
bilateral perisylvian polymicrogyria +
Birk-Landau-Perez Syndrome
Bloch-Sulzberger syndrome +
Boudhina Yedes Khiari syndrome
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brachydactyly, Type A2, With Microcephaly
Brachymesomelia Renal Syndrome
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachyolmia Type 1, Hobaek Type
Branchial Arch Syndrome X-Linked
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Broad Terminal Phalanges, Familial
bullous congenital ichthyosiform erythroderma
Bullous Dystrophy, Hereditary Macular Type
Burnett Schwartz Berberian Syndrome
Camptodactyly Syndrome Guadalajara Type 2
Camptodactyly-Ichthyosis Syndrome
Cardiac, Facial, and Digital Anomalies with Developmental Delay
Cardioacrofacial Dysplasia +
Cardiofacioneurodevelopmental Syndrome
Cartwright Nelson Fryns Syndrome
Cataract and Congenital Ichthyosis
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
caudal regression syndrome
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction
Chemke Oliver Mallek Syndrome
CHOPRA-AMIEL-GORDON SYNDROME
Chromosomal Instability with Tissue-Specific Radiosensitivity
chromosome 15q26-qter deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 22q11.2 microduplication syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 5p13 duplication syndrome
cleft palate, cardiac defects, and intellectual disabillity
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Combined Pituitary Hormone Deficiency 1
Combined Pituitary Hormone Deficiency 4
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
Congenital Ichthyosis with Trichothiodystrophy +
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
congenital secretory sodium diarrhea 3
Congenital Upper Extremity Deformities +
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
Cornelia de Lange syndrome +
Costocoracoid Ligament Congenitally Short
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +
craniofacial-deafness-hand syndrome
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
Craniomicromelic Syndrome
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities
Craniosynostosis Syndrome, Autosomal Recessive
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
Cree Mental Retardation Syndrome
Crumpled Helices and Small Mouth
Cryptomicrotia Brachydactyly Syndrome
deafness, dystonia, and cerebral hypomyelination
Deafness, Nephritis, Anorectal Malformation
deafness-intellectual disability, Martin-Probst type syndrome
Deal Barratt Dillon Syndrome
Delayed Cranial Ossification due to CBFB Haploinsufficiency
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dincsoy Salih Patel Syndrome
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
distal arthrogryposis type 7
Distal Transverse Limb Defects with Mental Retardation and Spasticity
Dykes Markes Harper Syndrome
Ectrodactyly Cardiopathy Dysmorphism
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
ENDOVE SYNDROME, LIMB-BRAIN TYPE
epidermolytic hyperkeratosis +
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Facial Dysmorphism with Multiple Malformations +
Facio Thoraco Genital Syndrome
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities
Feingold Trainer Syndrome
Femur Fibula Ulna Syndrome
fetal akinesia deformation sequence syndrome +
fetal akinesia deformation sequence syndrome X-linked
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
fetal encasement syndrome
Forney Robinson Pascoe Syndrome
Forsythe-Wakeling Syndrome
Fraser Jequier Chen Syndrome
Freire-Maia Odontotrichomelic Syndrome
Fried Goldberg Mundel Syndrome
Galloway-Mowat syndrome +
Gardner Morrisson Abbot Syndrome
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
Glutamyl Ribose-5-Phosphate Storage Disease
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Grubben de Cock Borghgraef Syndrome
Hand and Foot Deformity with Flat Facies
hand-foot-genital syndrome
Harrod Doman Keele Syndrome
Heart Defects Limb Shortening
Hersh Podruch Weisskopf Syndrome
Heyn-Sproul-Jackson Syndrome
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
Hittner Hirsch Kreh Syndrome
Ho Kaufman Mcalister Syndrome
Holzgreve-Wagner-Rehder syndrome
Hordnes Engebretsen Knudtson syndrome
Hoyeraal Hreidarsson Syndrome
Hunter-Macdonald Syndrome
hyperphosphatasia with impaired intellectual development syndrome +
hypertelorism, microtia, facial clefting syndrome
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
Hypomelia Mullerian Duct Anomalies
hypoparathyroidism-retardation-dysmorphism syndrome
Hypospadias-Mental Retardation Syndrome
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
Hypotonia, Seizures, and Precocious Puberty
Ichthyosis Cheek Eyebrow Syndrome
Ichthyosis Prematurity Syndrome
Ichthyosis Tapered Fingers Midline Groove Up
Ichthyosis with Erythrokeratoderma
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
Ichthyosis, Spastic Quadriplegia, and Mental Retardation
Ichthyosis, Split Hairs, and Amino Aciduria
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
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, Seizures, and Distal Limb Anomalies
Iris Dysplasia Hypertelorism Deafness
Isolated Noncompaction of the Ventricular Myocardium +
Jagell Holmgren Hofer Syndrome
Jequier Kozlowski Skeletal Dysplasia
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Jung Wolff Back Stahl Syndrome
Kaplan Plauchu Fitch Syndrome
Kashani Strom Utley Syndrome
Kasznica Carlson Coppedge Syndrome
Kaufman oculocerebrofacial syndrome
Keratitis-Ichthyosis-Deafness Syndrome +
Keratoconus Posticus Circumscriptus with Associated Malformations
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
keratosis pilaris atrophicans +
Koone Rizzo Elias Syndrome
Kosaki Overgrowth Syndrome
Kozlowski Brown Hardwick Syndrome
Krauss Herman Holmes Syndrome
Lamellar Ichthyosis, Autosomal Dominant Form
Laryngeal Atresia, Encephalocele, and Limb Deformities
lateral meningocele syndrome
Le Marec Bracq Picaud Syndrome
Lenz-Majewski hyperostotic dwarfism
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities
Lethal Faciocardiomelic Dysplasia
LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
linear nevus sebaceous syndrome +
linear skin defects with multiple congenital anomalies 2
Lower Extremity Deformities, Congenital +
Lutz Richner Landolt Syndrome
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
Lynch Lee Murday syndrome
MacDermot Winter Syndrome
Macrosomia Obesity Macrocephaly Ocular Abnormalities
Macrosomia with Lethal Microphthalmia
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
mandibulofacial dysostosis, Guion-Almeida type
Marfanoid Habitus with Microcephaly and Glomerulonephritis
Marles Greenberg Persaud Syndrome
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome +
Megalencephaly - Cutis Marmorata Telangiectatica Congenita
Menke-Hennekam Syndrome +
Mental Retardation Spasticity Ectrodactyly
Mental Retardation, Buenos Aires Type
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mesomelia-Synostoses Syndrome
Mesomelic Limb Shortening and Bowing
Metaphyseal Anadysplasia +
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly and Chorioretinopathy +
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 Cervical Spine Fusion Anomalies
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 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
Microdontia Hypodontia Short Stature
Microphthalmia and Mental Deficiency
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
Microspherophakia with Hernia
Milner Khallouf Gibson Syndrome
Mirhosseini-Holmes-Walton Syndrome
Morillo-Cucci Passarge Syndrome
Mosaic Variegated Aneuploidy Syndrome 5
Mosaic Variegated Aneuploidy Syndrome 6
Mousa Al din Al Nassar Syndrome
mucolipidosis II alpha/beta
Mucopolysaccharidosis-Plus Syndrome
Muller Barth Menger Syndrome
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple congenital anomalies-hypotonia-seizures syndrome +
multiple congenital anomalies-hypotonia-seizures syndrome 3
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
Multiple Epiphyseal Dysplasia with Robin Phenotype
Multiple Pterygium Syndrome, X-Linked
Myoectodermal Gonadal Dysgenesis Syndrome
Nabais Sa-de Vries Syndrome, Type 1
Nablus Mask-Like Facial Syndrome
Nasopalpebral Lipoma Coloboma Syndrome
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia
Nephrosis with Deafness and Urinary Tract and Digital Malformations
Neu-Laxova syndrome 1 A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine. (DO)
NEUROCARDIOFACIODIGITAL SYNDROME
NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES
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, Cerebral Atrophy, and Visual Impairment
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES
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 Disorder with Seizures, Microcephaly, and Brain Abnormalities
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
Neurofaciodigitorenal Syndrome
nevoid basal cell carcinoma syndrome +
Nijmegen Breakage Syndrome-Like Disorder
Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features
Noonan syndrome with multiple lentigines +
Oculocerebral Hypopigmentation Syndrome Type Preus
oculocerebrorenal syndrome +
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
orofaciodigital syndrome +
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
Osteosclerosis with Ichthyosis and Fractures
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Palant Cleft Palate Syndrome
Pallister-Hall syndrome +
Partington Anderson Syndrome
Patterson Pseudoleprechaunism Syndrome
Pelvis-Shoulder Dysplasia
Penoscrotal Transposition
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pfeiffer Tietze Welte Syndrome
PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
Piepkorn Karp Hickok syndrome
polycystic kidney disease +
postaxial acrofacial dysostosis
Powell Chandra Saal Syndrome
Premature Aging, Okamoto Type
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
Pseudoaminopterin Syndrome
Radial Defect Robin Sequence
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias
Radial Ray Deficiency, X-Linked
Radial Ray Hypoplasia Choanal Atresia
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Rajab Interstitial Lung Disease with Brain Calcifications 1
Ramos Arroyo Clark Syndrome
Ray Peterson Scott Syndrome
Reardon Hall Slaney syndrome
Renal Dysplasia - Limb Defects Syndrome
Renal Hypophosphatemia with Intracerebral Calcifications
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
Ritscher-Schinzel syndrome +
Rozin Hertz Goodman Syndrome
Rubella Syndrome, Congenital
Rubinstein-Taybi syndrome +
Ruzicka Goerz Anton syndrome
Sackey Sakati Aur Syndrome
Sacral Meningocele Conotruncal Heart Defects
Sammartino De Crecchio Syndrome
Sanderson Fraser Syndrome
Sandhaus Ben-Ami Syndrome
Sao Paulo MCA/MR Syndrome
SATB2-associated syndrome
Say Barber Miller Syndrome
Say Field Coldwell Syndrome
Schaefer Stein Oshman Syndrome
Schimke X-Linked Mental Retardation Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Seckel Like Syndrome Type Buebel
Secretory Diarrhea, Myopathy, and Deafness
Seizures, Cortical Blindness, and Microcephaly Syndrome
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects
Sharma Kapoor Ramji Syndrome
Short Stature and Locking Fingers
Short Stature and Microcephaly with Genital Anomalies
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
Short Stature-Obesity Syndrome
Shprintzen Omphalocele Syndrome
Siegler Brewer Carey Syndrome
Sifrim-Hitz-Weiss syndrome
Silengo Lerone Pelizza Syndrome
Silver-Russell syndrome +
Silver-Russell Syndrome 3
Simpson-Golabi-Behmel syndrome type 2
Sjogren-Larsson syndrome +
Smith-Lemli-Opitz 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
split hand-foot malformation +
Split-Foot Malformation with Mesoaxial Polydactyly
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
spondylocarpotarsal synostosis syndrome
spondylocostal dysostosis 1
spondyloepimetaphyseal dysplasia, Genevieve-type
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Squalene Synthase Deficiency
Stankiewicz-Isidor Syndrome
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
Stern Lubinsky Durrie Syndrome
Stoelinga de Koomen Davis Syndrome
SULEIMAN-EL-HATTAB SYNDROME
syndromic microphthalmia 13
syndromic microphthalmia 6
syndromic microphthalmia 8
syndromic X-linked intellectual disability Najm type
syndromic X-linked intellectual disability Shrimpton type
Teebi hypertelorism syndrome +
Tessadori-van Haaften Neurodevelopmental Syndrome 1
Tetramelic Postaxial Oligodactyly
thanatophoric dysplasia +
Thomas Jewett Raines Syndrome
Thoracic Dysplasia-Hydrocephalus Syndrome
Thoraco Limb Dysplasia Rivera Type
Thoracolaryngopelvic Dysplasia
Thymic Aplasia with Fetal Death
Thymic-Renal-Anal-Lung Dysplasia
Tollner Horst Manzke Syndrome
Total Anonychia with Microcephaly
Tricho-Dento-Osseous Syndrome 1
Trichodysplasia-Xeroderma
trichohepatoenteric syndrome +
Triphalangeal Thumbs with Brachyectrodactyly
Ulnar Hypoplasia with Mental Retardation
Urioste Martinez-Frias Syndrome
Uropathy Distal Obstructive Polydactyly
Uruguay faciocardiomusculoskeletal syndrome
Van den Ende-Gupta syndrome
Velofacioskeletal Syndrome
Verloove-Vanhorick Brubakk Syndrome
vertebral anomalies and variable endocrine and T-cell dysfunction
Vertebral, Cardiac, Renal, and Limb Defects Syndromes +
VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS
Viljoen Kallis Voges Syndrome
Walbaum Titran Durieux Crepin Syndrome
Warburton Anyane Yeboa Syndrome
Weill-Marchesani syndrome +
Weill-Marchesani Syndrome 3
Weyers acrofacial dysostosis
Weyers Ulnar Ray/Oligodactyly Syndrome
White Forelock with Malformations
Wiedemann Grosse Dibbern Syndrome
Wiedemann-Rautenstrauch syndrome
Wiedemann-Steiner syndrome
Winship Viljoen Leary Syndrome
Winter Harding Hyde Syndrome
Woods Leversha Rogers Syndrome
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
X-linked Microhydranencephaly
Yemenite Deaf-Blind Hypopigmentation Syndrome
YUKSEL-VOGEL-BAUER SYNDROME
Zadik Barak Levin Syndrome
Zerres Rietschel Majewski Syndrome
Zimmerman Laband Syndrome +
|
|
