MCID: SPN278
MIFTS: 8

Spinal Muscular Atrophy with Respiratory Distress Type 2

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spinal Muscular Atrophy with Respiratory Distress Type 2

MalaCards integrated aliases for Spinal Muscular Atrophy with Respiratory Distress Type 2:

Name: Spinal Muscular Atrophy with Respiratory Distress Type 2 60
Severe Infantile Axonal Neuropathy with Respiratory Failure Type 2 60
X-Linked Spinal Muscular Atrophy with Respiratory Distress 60
Diaphragmatic Spinal Muscular Atrophy Type 2 60
Smard2 60

Characteristics:

Orphanet epidemiological data:

60
spinal muscular atrophy with respiratory distress type 2
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 35 G12.2
Orphanet 60 ORPHA404521

Summaries for Spinal Muscular Atrophy with Respiratory Distress Type 2

MalaCards based summary : Spinal Muscular Atrophy with Respiratory Distress Type 2, is also known as severe infantile axonal neuropathy with respiratory failure type 2. An important gene associated with Spinal Muscular Atrophy with Respiratory Distress Type 2 is LAS1L (LAS1 Like, Ribosome Biogenesis Factor).

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Symptoms & Phenotypes for Spinal Muscular Atrophy with Respiratory Distress Type 2

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Expression for Spinal Muscular Atrophy with Respiratory Distress Type 2

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GO Terms for Spinal Muscular Atrophy with Respiratory Distress Type 2

Sources for Spinal Muscular Atrophy with Respiratory Distress Type 2

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