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16Q24.3 Microdeletion Syndrome
22q11 Deletion Syndrome +
3-methylglutaconic aciduria type 4
ablepharon macrostomia syndrome
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
Acrocephalopolydactylous Dysplasia
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
Adducted Thumbs Syndrome +
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Aksu von Stockhausen Syndrome
Al Gazali Aziz Salem Syndrome
Alcohol Withdrawal Seizures
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan
Arthrogryposis and Ectodermal Dysplasia
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
Arthrogryposis Multiplex Congenita Whistling Face
arthrogryposis multiplex congenita-1
arthrogryposis multiplex congenita-3
arthrogryposis multiplex congenita-4
arthrogryposis multiplex congenita-5
arthrogryposis multiplex congenita-6
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development
Arthrogryposis, Impaired Intellectual Development, and Seizures
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
Arthrogryposis, X-Linked, Type V
asphyxiating thoracic dystrophy +
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
autosomal dominant intellectual developmental disorder 22
Autosomal Dominant Intellectual Developmental Disorder 60
autosomal recessive spinocerebellar ataxia 12
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Axial Mesodermal Dysplasia Spectrum
Bamforth-Lazarus syndrome
Baraitser-Winter syndrome +
Beckwith-Wiedemann syndrome +
Ben Ari Shuper Mimouni Syndrome
Beta-Amino Acids, Renal Transport of
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 +
Borjeson-Forssman-Lehmann syndrome
Boudhina Yedes Khiari syndrome
Boylan Dew Greco Syndrome
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brachymesomelia Renal Syndrome
branched-chain keto acid dehydrogenase kinase deficiency
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Broad Terminal Phalanges, Familial
Burnett Schwartz Berberian Syndrome
Camptodactyly-Ichthyosis Syndrome
CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement
Cardiac, Facial, and Digital Anomalies with Developmental Delay
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
caudal regression syndrome
Cerebellar Atrophy with Seizures and Variable Developmental Delay
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction
Chemke Oliver Mallek Syndrome
CHOPRA-AMIEL-GORDON SYNDROME
chromosome 15q26-qter 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
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
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 Arthrogryposis with Anterior Horn Cell Disease
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
Congenital Neuropathy with Arthrogryposis Multiplex
congenital secretory sodium diarrhea 3
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 Syndrome, Autosomal Recessive
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
Cree Mental Retardation Syndrome
Crumpled Helices and Small Mouth
Cryptomicrotia Brachydactyly Syndrome
Cyprus Facial Neuromusculoskeletal Syndrome
deafness, dystonia, and cerebral hypomyelination
Deafness, Nephritis, Anorectal Malformation
deafness-intellectual disability, Martin-Probst type syndrome
Delayed Cranial Ossification due to CBFB Haploinsufficiency
Developmental Delay, Epilepsy, and Neonatal Diabetes
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
Dincsoy Salih Patel Syndrome
distal arthrogryposis type 7
Drug Resistant Epilepsy +
Ectrodactyly Cardiopathy Dysmorphism
Ehlers-Danlos syndrome musculocontractural type 2
electroclinical syndrome +
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Epilepsy, Occipital Calcifications
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Facial Dysmorphism with Multiple Malformations +
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
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 +
Focal Cortical Dysplasia of Taylor +
Forney Robinson Pascoe Syndrome
Fraser Jequier Chen Syndrome
Fried Goldberg Mundel Syndrome
Gardner Morrisson Abbot Syndrome
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
Glutamyl Ribose-5-Phosphate Storage Disease
Glycosylphosphatidylinositol Deficiency +
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Gurrieri Sammito Bellussi Syndrome
hand-foot-genital syndrome
Harrod Doman Keele Syndrome
Heart Defects Limb Shortening
hereditary neuropathy with liability to pressure palsies
Hersh Podruch Weisskopf 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
Hunter-Macdonald Syndrome
hyperphosphatasia with impaired intellectual development syndrome +
Hypomelia Mullerian Duct Anomalies
hypoparathyroidism-retardation-dysmorphism syndrome
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
Hypotonia, Seizures, and Precocious Puberty
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
intellectual developmental disorder with autistic features and language delay, with or without seizures
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
Intellectual Developmental Disorder with Seizures and Language Delay
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis
Iris Dysplasia Hypertelorism Deafness
Isolated Noncompaction of the Ventricular Myocardium +
Jequier Kozlowski Skeletal Dysplasia
Johnston Aarons Schelley Syndrome
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Jung Wolff Back Stahl Syndrome
Kashani Strom Utley Syndrome
Kasznica Carlson Coppedge Syndrome
Keratoconus Posticus Circumscriptus with Associated Malformations
Kohlschutter-Tonz syndrome
Kosaki Overgrowth Syndrome
Kozlowski Brown Hardwick Syndrome
Krauss Herman Holmes Syndrome
Ladda Zonana Ramer Syndrome
lateral meningocele syndrome
Le Marec Bracq Picaud Syndrome
Lenz-Majewski hyperostotic dwarfism
lethal congenital contracture syndrome +
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities
LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
linear nevus sebaceous syndrome +
Lutz Richner Landolt Syndrome
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
Macrosomia Obesity Macrocephaly Ocular Abnormalities
Macrosomia with Lethal Microphthalmia
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Marles Greenberg Persaud Syndrome
Massa Casaer Ceulemans Syndrome
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome +
Megalencephaly - Cutis Marmorata Telangiectatica Congenita
Menke-Hennekam Syndrome +
Mental Retardation, Buenos Aires Type
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mesomelia-Synostoses Syndrome
Mesomelic Limb Shortening and Bowing
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly, Epilepsy, and Diabetes 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
Microdontia Hypodontia Short Stature
Microspherophakia with Hernia
Minicore Myopathy, Antenatal Onset, with Arthrogryposis
Morillo-Cucci Passarge Syndrome
Mousa Al din Al Nassar Syndrome
mucolipidosis II alpha/beta
Mucopolysaccharidosis-Plus Syndrome
Muller Barth Menger Syndrome
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 Pterygium Syndrome, Lethal Type +
Myoectodermal Gonadal Dysgenesis Syndrome
Myopathy, Epilepsy, and Progressive Cerebral Atrophy
Nablus Mask-Like Facial Syndrome
Nasopalpebral Lipoma Coloboma Syndrome
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia
NEUROCARDIOFACIODIGITAL SYNDROME
NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY
NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES
neurodevelopmental disorder with hypotonia and speech delay
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
neurodevelopmental disorder with language delay and seizures
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES
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 MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
Neurodevelopmental Disorder with Seizures and Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES
Neurofaciodigitorenal Syndrome
neurogenic-type arthrogryposis multiplex congenita-2
nevoid basal cell carcinoma syndrome +
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
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
orofaciodigital syndrome +
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Palant Cleft Palate Syndrome
Pallister-Hall syndrome +
Patterson Pseudoleprechaunism Syndrome
Pelvic Dysplasia Arthrogryposis of Lower Limbs
Pelvis-Shoulder Dysplasia
Penoscrotal Transposition
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pfeiffer Tietze Welte Syndrome
PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation
Piepkorn Karp Hickok syndrome
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
polycystic kidney disease +
polyhydramnios, megalencephaly, and symptomatic epilepsy
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
postaxial acrofacial dysostosis
Powell Chandra Saal Syndrome
Premature Aging, Okamoto Type
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
Pseudoaminopterin Syndrome
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
pyridoxamine 5'-phosphate oxidase deficiency
pyridoxine-dependent epilepsy +
Radial Defect Robin Sequence
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias
Radial Ray Hypoplasia Choanal Atresia
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Ramos Arroyo Clark Syndrome
Ray Peterson Scott Syndrome
Renal Hypophosphatemia with Intracerebral Calcifications
Retinal Degeneration and Epilepsy
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
Ritscher-Schinzel syndrome +
Rozin Hertz Goodman Syndrome
Rubella Syndrome, Congenital
Rubinstein-Taybi syndrome +
Sackey Sakati Aur Syndrome
Sacral Meningocele Conotruncal Heart Defects
Sanderson Fraser Syndrome
Sandhaus Ben-Ami Syndrome
Sao Paulo MCA/MR Syndrome
SATB2-associated syndrome
Say Field Coldwell Syndrome
Schaefer Stein Oshman Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Seckel Like Syndrome Type Buebel
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
Sharma Kapoor Ramji Syndrome
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
Shprintzen Omphalocele Syndrome
Siegler Brewer Carey Syndrome
Sifrim-Hitz-Weiss syndrome
Silengo Lerone Pelizza Syndrome
Silver-Russell syndrome +
Simpson-Golabi-Behmel syndrome type 2
Smith-Lemli-Opitz syndrome +
Spinocerebellar Ataxia with Epilepsy
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
spondylocarpotarsal synostosis syndrome
spondylocostal dysostosis 1
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Spranger Schinzel Myers Syndrome
Squalene Synthase Deficiency
Stankiewicz-Isidor Syndrome
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
Stoelinga de Koomen Davis Syndrome
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
SULEIMAN-EL-HATTAB SYNDROME
syndromic X-linked intellectual disability Hedera type
Teebi hypertelorism syndrome +
Thomas Jewett Raines Syndrome
Thoracolaryngopelvic Dysplasia
Thymic Aplasia with Fetal Death
Tollner Horst Manzke Syndrome
Tricho-Dento-Osseous Syndrome 1
Triphalangeal Thumbs with Brachyectrodactyly
Urioste Martinez-Frias Syndrome
Uropathy Distal Obstructive Polydactyly
Uruguay faciocardiomusculoskeletal syndrome
Van den Ende-Gupta syndrome
Velofacioskeletal Syndrome
Ventriculomegaly and Arthrogryposis
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
Walbaum Titran Durieux Crepin Syndrome
Weill-Marchesani syndrome +
Weyers acrofacial dysostosis
Weyers Ulnar Ray/Oligodactyly Syndrome
White Forelock with Malformations
Wiedemann Grosse Dibbern Syndrome
Wiedemann-Steiner syndrome
Winter Harding Hyde Syndrome
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features
X-linked epilepsy with variable learning disabilities and behavior disorders
X-linked Microhydranencephaly
Yemenite Deaf-Blind Hypopigmentation Syndrome
YUKSEL-VOGEL-BAUER SYNDROME
Zadik Barak Levin Syndrome
Zimmerman Laband Syndrome +
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