Delayed speech and language development, and Lower limb muscle weakness

Medium match OSTEOGENESIS IMPERFECTA, TYPE XVII; OI17

• Autosomal recessive inheritance
• Short stature
• Generalized hypotonia
• Scoliosis
• Motor delay

SOURCES: DOID UMLS OMIM MONDO

Medium match SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPG18

Spastic paraplegia-18 is a severe autosomal recessive neurologic disorder characterized by onset in early childhood of progressive spastic paraplegia resulting in motor disability. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures (summary by Alazami et al., 2011 and Yildirim et al., 2011).

SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPG18 Is also known as intellectual disability, motor dysfunction, and joint contractures;idmdc;spg18

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Pica
• Scoliosis

SOURCES: ORPHANET MONDO GARD OMIM MESH UMLS DOID

Medium match SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

gene (13q13.1), which encodes the protein spartin.

SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20 Is also known as troyer syndrome, spastic paraparesis, childhood-onset, with distal muscle wasting, spastic paraplegia, autosomal recessive, troyer type;childhood-onset spastic paraparesis-distal muscle wasting syndrome; spg20; troyer syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: DOID ORPHANET MESH GARD OMIM MONDO SCTID UMLS

Medium match MYOTONIC DYSTROPHY 1; DM1

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1, dystrophia myotonica;dm, steinert disease;dm1; md1; myotonic dystrophy type 1; steinert disease

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Generalized hypotonia
• Pica

SOURCES: GARD UMLS OMIM DOID NCIT ORPHANET MONDO

Low match CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O Is also known as charcot-marie-tooth neuropathy, axonal, type 2o, charcot-marie-tooth disease, axonal, autosomal dominant, type 2o;cmt2o

• Autosomal dominant inheritance
• Motor delay
• Peripheral neuropathy
• Pain
• Gait disturbance

SOURCES: MONDO GARD ORPHANET UMLS DOID OMIM

Low match CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H

Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (incl. kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H Is also known as charcot-marie-tooth disease, autosomal recessive, type 4h, charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4h, charcot-marie-tooth neuropathy, type 4h;cmt4h

• Autosomal recessive inheritance
• Scoliosis
• Motor delay
• Muscle weakness
• Peripheral neuropathy

SOURCES: MESH GARD MONDO SCTID UMLS ORPHANET DOID OMIM

Low match CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F

Charcot-Marie-Tooth disease type 4F is an autosomal recessive demyelinating neuropathy characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. Nerve conduction velocities are decreased and sural nerve biopsy shows loss of myelinated fibers. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome (DSS ).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F Is also known as ;cmt4f

• Autosomal recessive inheritance
• Pica
• Scoliosis
• Ataxia
• Motor delay

SOURCES: SCTID ORPHANET DOID OMIM GARD UMLS MONDO

Low match CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K Is also known as charcot-marie-tooth disease, axonal, autosomal recessive, type 2k, charcot-marie-tooth neuropathy, axonal, type 2k;arcmt2k; autosomal recessive axonal cmt4c4; autosomal recessive axonal charcot-marie-tooth disease type 2k

• Autosomal recessive inheritance
• Autosomal dominant inheritance
• Global developmental delay
• Generalized hypotonia
• Scoliosis

SOURCES: MONDO NCIT ORPHANET OMIM

Low match MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6

CNM6 is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy.For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

• Generalized hypotonia
• Scoliosis
• Motor delay
• Muscle weakness
• Myopathy

SOURCES: OMIM

Low match HEREDITARY MOTOR AND SENSORY NEUROPATHY V

Hereditary motor and sensory neuropathies (HMSN) are a heterogeneous group of peripheral nervous system disorders affecting motor and sensory function. HMSN I, also known as Charcot-Marie-Tooth (CMT) disease, or peroneal muscular atrophy, type 1, is a demyelinating neuropathy (see CMT1B; {118200}) and HMSN II, also known as CMT type 2, is an axonal neuropathy (see CMT2A1; {118210}). See also HMSN III (OMIM ) and HMSN IV (OMIM ).For an autosomal recessive disorder with similarities to HMSN V, see {607731}.

HEREDITARY MOTOR AND SENSORY NEUROPATHY V Is also known as hmsn v, hmsn5, peroneal muscular atrophy with pyramidal features, autosomal dominant, charcot-marie-tooth disease with pyramidal features, autosomal dominant, charcot-marie-tooth neuropathy with pyramidal features, autosomal dominant, cmt with pyramidal features;strümpell disease

• Autosomal dominant inheritance
• Growth delay
• Motor delay
• Spasticity
• Peripheral neuropathy

SOURCES: ORPHANET OMIM