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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Growth Disorders +     
microcephaly +     
3MC syndrome 3  
3p deletion syndrome  
Absent Eyebrows and Eyelashes with Mental Retardation 
Abuse Dwarfism Syndrome 
achalasia microcephaly syndrome 
Acid-Labile Subunit Deficiency  
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
AGAT deficiency  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Al Gazali Khidr Prem Chandran Syndrome 
Al Gazali Sabrinathan Nair Syndrome 
Al Kaissi Syndrome  
Al-Raqad Syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
AMED syndrome  
Amish Lethal Microcephaly  
Aphalangia Syndactyly Microcephaly 
Arboleda-Tham syndrome  
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Asparagine Synthetase Deficiency  
Ataxia-Microcephaly-Cataract Syndrome 
Auriculoosteodysplasia 
autosomal dominant microcephaly +   
Ayme-Gripp syndrome  
Baetz-Greenwalt Syndrome 
Bagatelle Cassidy Syndrome 
Bainbridge-Ropers syndrome  
Baralle-Macken Syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Beck-Fahrner Syndrome  
Bellini Chiumello Rimoldi Syndrome 
Berk-Tabatznik Syndrome 
Bhaskar Jagannathan Syndrome 
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
Borjeson-Forssman-Lehmann syndrome  
Bosch-Boonstra-Schaaf optic atrophy syndrome  
Boudhina Yedes Khiari syndrome 
brachycephaly, trichomegaly, and developmental delay  
brachydactyly type E2  
Brachydactyly, Type A2, With Microcephaly 
Braddock Carey Syndrome +   
Branchial Arch Syndrome X-Linked 
Bullous Dystrophy, Hereditary Macular Type 
CAMFAK Syndrome 
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Cardiofacioneurodevelopmental Syndrome  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM  
cerebellar hypoplasia +   
cerebellofaciodental syndrome  
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Baraitser Syndrome 
Chitty Hall Webb Syndrome 
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 13q14 deletion syndrome  
chromosome 15q26-qter deletion syndrome  
chromosome 17p13.1 deletion syndrome 
chromosome 17p13.3 duplication syndrome  
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 3q29 microdeletion syndrome  
chromosome Xp11.23-p11.22 duplication syndrome 
CK syndrome  
Clark-Baraitser syndrome  
cleft palate, cardiac defects, and intellectual disabillity  
Cleft Palate, Proliferative Retinopathy, and Developmental Delay  
CODAS syndrome  
Coffin Syndrome 1 
Cohen syndrome  
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
congenital limbs-face contractures-hypotonia-developmental delay syndrome  
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Congenital Progeroid Syndrome, Petty Type  
Cote Katsantoni Syndrome 
Cousin Syndrome  
Coxoauricular Syndrome 
CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY  
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Crumpled Helices and Small Mouth 
Curatolo Cilio Pessagno Syndrome 
Daish Hardman Lamont Syndrome 
Der Kaloustian Mcintosh Silver Syndrome 
Dermoids of Cornea 
DeSanto-Shinawi syndrome  
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES  
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities  
Developmental Delay with or without Dysmorphic Facies and Autism  
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS  
developmental delay, hypotonia, and impaired language  
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES  
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome 
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Developmental Delay, Language Impairment, and Ocular Abnormalities  
Devriendt syndrome 
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
diphthamide deficiency syndrome +   
diphthamide deficiency syndrome 1  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
DNA ligase IV deficiency  
Dubowitz syndrome  
Dyschondrosteosis and Nephritis 
early-onset epilepsy 2  
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ellis Yale Winter Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
EVEN-PLUS SYNDROME  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Fallot Complex with Severe Mental and Growth Retardation 
Faundes-Banka Syndrome  
Feingold syndrome +   
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES  
Fetal Growth Retardation +   
Filippi syndrome  
Floating-Harbor syndrome  
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Frank-Ter Haar syndrome  
Frias Syndrome 
Galloway-Mowat syndrome +   
Game Friedman Paradice Syndrome 
GAPO syndrome  
Gay Feinmesser Cohen Syndrome 
geleophysic dysplasia +   
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
glycogen storage disease IX +   
Glycosylphosphatidylinositol Biosynthesis Defect 25  
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Mental Deficiency Syndrome of Myhre  
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Grubben de Cock Borghgraef Syndrome 
Hadziselimovic Syndrome 
Hairy Elbows 
Halal Syndrome 
Heme Oxygenase 1 Deficiency  
hereditary spastic paraplegia 9A  
Hersh Podruch Weisskopf Syndrome 
Heyn-Sproul-Jackson Syndrome  
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME  
Hooft Disease 
Hoyeraal Hreidarsson Syndrome  
Hunter-McAlpine Syndrome 
Hutterite Cerebroosteonephrodysplasia Syndrome 
Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis 
hypermethioninemia due to adenosine kinase deficiency  
hypertelorism, microtia, facial clefting syndrome 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypoparathyroidism-retardation-dysmorphism syndrome  
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Hypospadias-Mental Retardation Syndrome 
hypotonia, ataxia, and delayed development syndrome  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
IGF1R-RELATED DISORDER  
Immunodeficiency 78 with Autoimmunity and Developmental Delay  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Insulin-Like Growth Factor I Deficiency  
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein 
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
Johanson-Blizzard syndrome  
Jorgenson Lenz Syndrome 
Juberg Hayward Syndrome  
Kaufman oculocerebrofacial syndrome  
Keppen-Lubinsky Syndrome  
KINSSHIP syndrome  
KOHLSCHUTTER-TONZ SYNDROME-LIKE  
Kozlowski Rafinski Klicharska Syndrome 
KURY-ISIDOR SYNDROME  
Kuster Majewski Hammerstein Syndrome 
Ladda Zonana Ramer Syndrome 
Lamb-Shaffer Syndrome  
Lambotte Syndrome 
Langer Mesomelic Dysplasia  
Larsen-like syndrome B3GAT3 type  
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy 
Leri-Weill dyschondrosteosis  
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Li-Campeau Syndrome  
linear skin defects with multiple congenital anomalies 2  
lissencephaly 3 +   
lissencephaly 4  
lissencephaly 6  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Luscan-Lumish Syndrome  
MacDermot Winter Syndrome 
Macrosomia Adiposa Congenita 
Madelung Deformity 
Malocclusion and Short Stature 
mandibulofacial dysostosis, Guion-Almeida type  
MARBACH-RUSTAD PROGEROID SYNDROME  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
Megarbane Syndrome 
MEHMO syndrome  
Meier-Gorlin syndrome +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation Mietens Weber Type 
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 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 
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mitochondrial Myopathy with Lactic Acidosis  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mollica-Pavone-Antener Syndrome 
Morillo-Cucci Passarge Syndrome 
Mosaic Variegated Aneuploidy Syndrome 5  
Mosaic Variegated Aneuploidy Syndrome 6  
Mowat-Wilson syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nabais Sa-de Vries Syndrome, Type 1  
Nathalie Syndrome 
Neonatal Zinc Deficiency due to Low Breast Milk Zinc  
Neu-Laxova syndrome 1  
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES  
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY  
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and 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 poor growth and behavioral abnormalities  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES  
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss  
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies  
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities  
neurodevelopmental disorder with spasticity and poor growth  
Neurofaciodigitorenal Syndrome 
Nijmegen Breakage Syndrome-Like Disorder  
Nizon-Isidor Syndrome  
Non-Lissencephalic Cortical Dysplasia 
Obesity, Hyperphagia, and Developmental Delay  
Oculopalatocerebral Syndrome 
Ogden syndrome  
Oliver-McFarlane syndrome  
omodysplasia 1  
Onat Syndrome 
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME  
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Osteolysis Syndrome, Recessive 
Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay  
osteosclerotic metaphyseal dysplasia  
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
Paine Syndrome 
Partington Anderson Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Periventricular Nodular Heterotopia 7  
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
PHGDH deficiency  
Pierpont syndrome  
Pili Torti, Developmental Delay, Neurological Abnormalities  
Pilotto Syndrome 
Polydysspondyly 
porencephaly +   
Premature Aging, Okamoto Type 
primary microcephaly +   
Progeria Short Stature Pigmented Nevi 
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
Pseudo-TORCH Syndrome +   
pseudo-TORCH syndrome 1  
PSPH deficiency  
Qazi Markouizos syndrome 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Raine Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications +   
Rajab Interstitial Lung Disease with Brain Calcifications 1  
Ramon Syndrome 
Reardon Wilson Cavanagh Syndrome 
Refsum Disease with Increased Pipecolic Acidemia 
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rodrigues Blindness 
Roifman-Chitayat Syndrome  
Rommen Mueller Sybert Syndrome 
Rowley-Rosenberg Syndrome 
Ruijs-Aalfs syndrome  
Sammartino De Crecchio Syndrome 
Say Meyer Syndrome  
Say Syndrome 
Say-Barber-Miller Syndrome 
Schaap Taylor Baraitser Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
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 
SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS  
Short Stature and Microcephaly with Genital Anomalies  
Short Stature Syndrome, Brussels Type 
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Developmental Delay, and Congenital Heart Defects  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
SHORT STATURE-MICROGNATHIA SYNDROME  
SHORT syndrome  
SHOX-related short stature  
Siddiqi syndrome  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Silengo Lerone Pelizza Syndrome 
Silver-Russell Syndrome 3  
Slavotinek Pike Mills Hurst Syndrome 
Snijders Blok-Fisher Syndrome  
Sonoda 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 
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondylometaphyseal dysplasia corner fracture type  
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
Stern Lubinsky Durrie Syndrome 
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
Stromme syndrome  
succinic semialdehyde dehydrogenase deficiency  
syndromic microphthalmia 13  
syndromic microphthalmia 8 
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
syndromic X-linked intellectual disability Turner type  
Synostosis of Talus and Calcaneus with Short Stature 
Tatton-Brown-Rahman syndrome  
Teebi Kaurah Syndrome 
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
Thumb Agenesis, Short Stature, and Immunodeficiency 
Tonoki Syndrome 
Total Anonychia with Microcephaly 
Trichodental Syndrome 
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME  
Tsukahara Syndrome  
Turnpenny-Fry Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
VERVERI-BRADY SYNDROME  
Viljoen Kallis Voges Syndrome 
Volcke Soekarman Syndrome 
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome  
Webb-Dattani Syndrome  
Weill-Marchesani Syndrome 2  
WEISS-KRUSZKA SYNDROME  
Wellesley Carmen French Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Wiedemann-Steiner syndrome  
Winchester syndrome  
Winship Viljoen Leary Syndrome 
Wittwer Syndrome  
X-linked mental retardation-hypotonic facies syndrome-1  
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME  
Young Hughes Syndrome 
Zaki syndrome  
Zerres Rietschel Majewski Syndrome 
ZIEGLER-HUANG SYNDROME  

Synonyms
Exact Synonyms: HESJAS
Primary IDs: MIM:618724

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