In the following list you will find some of the most common rare diseases related to Motor delay and Macrotia that can help you solving undiagnosed cases.
MENTAL RETARDATION, X-LINKED 97; MRX97 Is also known as mental retardation, x-linked 65|mrx65|mrxz
Related symptoms:
Nonsyndromic mental retardation.
MENTAL RETARDATION, X-LINKED 9; MRX9 Is also known as mental retardation, x-linked 44|mrx44
Related symptoms:
MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47|mrx47
Related symptoms:
NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.
NDE1-RELATED MICROHYDRANENCEPHALY Is also known as hydranencephaly and microcephaly|mhac
Related symptoms:
SOURCES: MESH ORPHANET OMIM MENDELIAN
More info about NDE1-RELATED MICROHYDRANENCEPHALYNEDSGA is an autosomal dominant disorder characterized by global developmental delay apparent from infancy or early childhood, resulting in variable intellectual disability that can range from profound with absent speech to mild with an ability to attend special schools. Most affected individuals show irritability, stiffness, and hypertonia early in life, which progresses to spasticity and impaired gait later. Some patients may develop seizures of variable severity early in life (summary by Martin et al., 2017).
Related symptoms:
Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor (AChR) channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by Sine et al., 2003 and Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).
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X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.
X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly
Related symptoms:
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME
DIDOD is a disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018).
Related symptoms:
Symptoms // Phenotype | % cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Global developmental delay | Common - Between 50% and 80% cases |
Seizures | Common - Between 50% and 80% cases |
Delayed speech and language development | Common - Between 50% and 80% cases |
Generalized hypotonia | Common - Between 50% and 80% cases |
Patients with Motor delay and Macrotia. may also develop some of the following symptoms:
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