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Ontology Browser
Term:
Hyper-Beta-Alaninemia (DOID:9000631)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0)
Parent Terms Term With Siblings Child Terms
recurrent hypersomnia +     
visual epilepsy +     
Adams Nance Syndrome 
Alcohol Withdrawal Seizures  
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
Arthrogryposis, Impaired Intellectual Development, and Seizures  
autosomal dominant intellectual developmental disorder 6  
Baraitser Rodeck Garner syndrome 
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
chromosome 15q13.3 microdeletion syndrome  
Copper Deficiency, Familial Benign 
Craniosynostosis 2  
developmental delay and seizures with or without movement abnormalities  
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
EAST syndrome  
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Infantile Convulsions and Paroxysmal Choreoathetosis  
Hyper-Beta-Alaninemia 
Hyperglycinemia, Lactic Acidosis, and Seizures  
Hyperleucine-Isoleucinemia 
hypermethioninemia due to adenosine kinase deficiency  
Hyperphosphatemia, Polyuria, and Seizures 
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +   
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypotonia, Seizures, and Precocious Puberty 
Idiopathic Hypersomnolence  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
Kleine-Levin syndrome  
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Methionine Malabsorption Syndrome 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
microcephaly, seizures, and developmental delay  
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Muller Barth Menger Syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome +   
myoclonic-atonic epilepsy  
narcolepsy +   
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Occipital Cortical Malformations  
optic atrophy 10  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
Partington syndrome  
Perniola Krajewska Carnevale Syndrome 
PHGDH deficiency  
Primary Aldosteronism, Seizures, and Neurologic Abnormalities  
PSAT deficiency  
Qazi Markouizos syndrome 
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal  
Seizures, Cortical Blindness, and Microcephaly Syndrome  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Smith-Kingsmore Syndrome  
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
syndromic X-linked intellectual disability 5  
Tranebjaerg Svejgaard syndrome 
White-Sutton syndrome  
X-linked mental retardation Gustavson type 

Synonyms
Exact Synonyms: Hyperalaninemia
Primary IDs: MESH:C562684
Alternate IDs: OMIM:237400

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