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Term:
SNIJDERS BLOK-FISHER SYNDROME (DOID:9004310)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (0) Bonobo: (1) Dog: (1) Squirrel: (0) Pig: (1)
Parent Terms Term With Siblings Child Terms
3-M syndrome +   
3MC syndrome 3  
Abuse Dwarfism Syndrome 
AGAT deficiency  
Al Gazali Sabrinathan Nair Syndrome 
AL-RAQAD SYNDROME  
Alazami-Yuan Syndrome  
Allan-Herndon-Dudley syndrome  
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Atonic-Astatic Syndrome of Foerster 
autosomal dominant mental retardation 20  
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Beaulieu-Boycott-Innes Syndrome  
Birk-Barel syndrome  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
Carnitine Acetyltransferase Deficiency  
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
cerebellar hypoplasia +   
Cerebellofaciodental Syndrome  
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chromosome 13q14 deletion syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 3q29 microdeletion syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
Cohen syndrome  
combined oxidative phosphorylation deficiency 3  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
De Hauwere syndrome 
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Emanuel Syndrome 
Ethanolaminosis 
FG syndrome +   
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
fumarase deficiency  
German Syndrome 
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
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  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Grubben de Cock Borghgraef Syndrome 
Heyn-Sproul-Jackson Syndrome  
hypermethioninemia due to adenosine kinase deficiency  
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 
Hypotonia, Seizures, and Precocious Puberty 
hypotonia-cystinuria syndrome  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Infantile Hypotonia with Psychomotor Retardation +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES  
Joubert syndrome 10  
Joubert syndrome 3  
Joubert syndrome 5  
Kat6a Syndrome  
Keppen-Lubinsky Syndrome  
Ketoadipicaciduria 
Lamb-Shaffer Syndrome  
Loucks-Innes Syndrome  
Luscan-Lumish syndrome  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
microcephaly, seizures, and developmental delay  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
multiple congenital anomalies-hypotonia-seizures syndrome +   
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
Non-Lissencephalic Cortical Dysplasia 
Obesity, Hyperphagia, and Developmental Delay  
Ogden syndrome  
Oliver-McFarlane syndrome  
Osteosclerotic Metaphyseal Dysplasia  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Partington Anderson Syndrome 
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Pierpont syndrome  
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
Pseudo-TORCH Syndrome +   
Qazi Markouizos syndrome 
Rajab Syndrome  
Refsum Disease with Increased Pipecolic Acidemia 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Roifman-Chitayat Syndrome 
scalp-ear-nipple syndrome  
Short Stature, Developmental Delay, and Congenital Heart Defects  
SIDDIQI SYNDROME  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
SNIJDERS BLOK-FISHER SYNDROME  
A neurodevelopmental disorder characterized by global developmental delay, hypotonia, variable impaired intellectual development, and specifically impaired speech and language acquisition. Patients achieve independent ambulation. Dysmorphic features include abnormal, cupped, or prominent ears and ocular anomalies.
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE  
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
succinic semialdehyde dehydrogenase deficiency  
Ter Haar Syndrome  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Turnpenny-Fry Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
VERVERI-BRADY SYNDROME  
WEISS-KRUSZKA SYNDROME  

Synonyms
Exact Synonyms: SNIBFIS
Primary IDs: OMIM:618604
Definition Sources: OMIM:618604

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.