Motor delay, and Tall stature

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Microcephaly

SOURCES: OMIM MENDELIAN

Charcot-Marie-Tooth disease type 2R is a rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.

CHARCOT-MARIE-TOOTH DISEASE TYPE 2R Is also known as charcot-marie-tooth disease, axonal, autosomal recessive, type 2r|cmt2r|charcot-marie-tooth neuropathy, type 2r

• Generalized hypotonia
• Muscle weakness
• Flexion contracture
• Motor delay
• Peripheral neuropathy

SOURCES: ORPHANET OMIM MENDELIAN

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Abnormal facial shape

SOURCES: OMIM MENDELIAN

Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.

DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA Is also known as microdontia-type i microtia-deafness syndrome|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia|deafness with lamm|lamm syndrome

• Hearing impairment
• Hypertelorism
• Micrognathia
• Strabismus
• Sensorineural hearing impairment

SOURCES: MESH OMIM ORPHANET MENDELIAN

SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome

• Intellectual disability
• Generalized hypotonia
• Scoliosis
• Nystagmus
• Strabismus

SOURCES: OMIM MENDELIAN

Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

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

SOURCES: OMIM ORPHANET MENDELIAN

Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

• Generalized hypotonia
• Scoliosis
• Muscle weakness
• Muscular hypotonia
• Flexion contracture

SOURCES: MESH OMIM MENDELIAN

Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018).

• Global developmental delay
• Generalized hypotonia
• Micrognathia
• Delayed speech and language development
• Motor delay

SOURCES: OMIM MENDELIAN

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Microcephaly
• Growth delay

SOURCES: MESH OMIM ORPHANET MENDELIAN

Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.

CHILDHOOD-ONSET NEMALINE MYOPATHY Is also known as mild nemaline myopathy

• Generalized hypotonia
• Scoliosis
• Hypertelorism
• Micrognathia
• Ptosis

SOURCES: ORPHANET MENDELIAN