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Ontology Browser
Term:
autosomal recessive intellectual developmental disorder 82 (DOID:0060947)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
autosomal recessive intellectual developmental disorder 1  
autosomal recessive intellectual developmental disorder 10/20 
autosomal recessive intellectual developmental disorder 11 
autosomal recessive intellectual developmental disorder 12  
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autosomal recessive intellectual developmental disorder 14  
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Autosomal Recessive Intellectual Developmental Disorder 78  
Autosomal Recessive Intellectual Developmental Disorder 79  
Autosomal Recessive Intellectual Developmental Disorder 80  
Autosomal Recessive Intellectual Developmental Disorder 81  
autosomal recessive intellectual developmental disorder 82  
An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12. (DO)
autosomal recessive intellectual developmental disorder 9/26 
early onset progressive encephalopathy with brain atrophy and thin corpus callosum  
glycosylphosphatidylinositol biosynthesis defect 16  
hyperphosphatasia with impaired intellectual development syndrome +   
infantile hypotonia with psychomotor retardation and characteristic facies-3  
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature  
Intellectual Developmental Disorder, Autosomal Recessive 19 
Mental Retardation, Autosomal Recessive 42  
Mental Retardation, Autosomal Recessive 53  
neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies  
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction  
neurodevelopmental disorder with language delay and seizures  
Neurodevelopmental Disorder with Microcephaly and Gray Sclerae  
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities  
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy  
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities  
neurodevelopmental disorder with poor growth and behavioral abnormalities  
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss  
neurodevelopmental disorder with spastic paraplegia and microcephaly  
neurodevelopmental disorder with spasticity and poor growth  
Rafiq syndrome  
Sotos syndrome 3  
spastic tetraplegia, thin corpus callosum, and progressive microcephaly  

Synonyms
Xrefs: MIM:620779
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/37226891/ "DO" "DO"

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