Global developmental delay, and Hyperreflexia

HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1 (OMIM ).

• Global developmental delay
• Short stature
• Muscle weakness
• Peripheral neuropathy
• Areflexia

SOURCES: ORPHANET OMIM MENDELIAN

Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.

GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY Is also known as gamt deficiency|creatine deficiency syndrome due to gamt deficiency|guanidinoacetate methyltransferase deficiency

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Ataxia

SOURCES: MESH ORPHANET OMIM MENDELIAN

• Global developmental delay
• Generalized hypotonia
• Ataxia
• Hyperreflexia
• Intellectual disability, severe

SOURCES: OMIM MENDELIAN

• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia
• Spasticity

SOURCES: OMIM MENDELIAN

Autosomal recessive spastic paraplegia type 71 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 71 Is also known as spg71

• Global developmental delay
• Peripheral neuropathy
• Hyperreflexia
• Hypoplasia of the corpus callosum
• Intellectual disability, mild

SOURCES: ORPHANET MENDELIAN

Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 63 Is also known as spg63

• Global developmental delay
• Short stature
• Spasticity
• Hyperreflexia
• Skeletal muscle atrophy

SOURCES: OMIM ORPHANET MENDELIAN

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Scoliosis
• Hyperreflexia

SOURCES: OMIM MENDELIAN

Spastic ataxia-8 with hypomyelinating leukodystrophy is an autosomal recessive progressive neurodegenerative disorder characterized by onset of primarily motor dysfunction within the first year of life. Affected individuals initially have hypotonia and later develop ataxia, spasticity, and a pyramidal syndrome with weakness and loss of ambulation. Other features may include dystonia, dysarthria, and abnormal eye movements. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. One family with cognitive impairment has also been reported (summary by Chelban et al., 2017).For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (OMIM ).

• Global developmental delay
• Generalized hypotonia
• Ataxia
• Nystagmus
• Spasticity

SOURCES: OMIM MENDELIAN

SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy (summary by Tesson et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see {270800}.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56 Is also known as spg56

• Intellectual disability
• Global developmental delay
• Spasticity
• Cognitive impairment
• Motor delay

SOURCES: OMIM ORPHANET MENDELIAN

Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67 Is also known as spg67

• Global developmental delay
• Hyperreflexia
• Intellectual disability, mild
• Babinski sign
• Agenesis of corpus callosum

SOURCES: ORPHANET MENDELIAN