Delayed speech and language development, and Distal amyotrophy

Medium match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K Is also known as cmt2k

• Motor delay
• Skeletal muscle atrophy
• Gait disturbance
• Arrhythmia
• Proximal muscle weakness

SOURCES: ORPHANET SCTID

Low match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4

Neurodegeneration with brain iron accumulation-4 (NBIA4) is an autosomal recessive neurodegenerative disorder characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms. Other neurologic features, including optic atrophy, eye movement abnormalities, dystonia, dysphagia, dysarthria, and motor axonal neuropathy, may occur. Brain MRI shows T2-weighted hypointensities in the globus pallidus and substantia nigra. Onset is usually in the first 2 decades, but later onset has been reported (summary by Dogu et al., 2013). There is phenotypic variation: some patients may not have extrapyramidal signs and may have muscle weakness and atrophy as well as cognitive impairment or developmental delay (Deschauer et al., 2012)For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (OMIM ).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4 Is also known as mitochondrial protein-associated neurodegeneration;mpan;mpan; nbia due to c19orf12 mutation; nbia4; neurodegeneration with brain iron accumulation due to c19orf12 mutation; neurodegeneration with brain iron accumulation type 4

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Pica
• Ataxia

SOURCES: OMIM DOID SCTID GARD UMLS ORPHANET MONDO

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B

Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by Wan et al., 2012). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by Halevy et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: MONDO OMIM DOID UMLS

Low match NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B

Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy (summary by Abrams et al., 2015 and Wan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (OMIM ).

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B Is also known as hmsn vib, charcot-marie-tooth disease, type 6b;cmt6b

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Hearing impairment

SOURCES: OMIM MONDO UMLS

Low match HAREL-YOON SYNDROME; HAYOS

Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

HAREL-YOON SYNDROME; HAYOS Is also known as ;harel-yoon syndrome

• Autosomal recessive inheritance
• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay

SOURCES: ORPHANET OMIM MONDO UMLS

Low match MACHADO-JOSEPH DISEASE; MJD

Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease.Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008).

MACHADO-JOSEPH DISEASE; MJD Is also known as spinocerebellar ataxia 3;sca3, spinocerebellar atrophy iii, azorean neurologic disease, spinopontine atrophy, nigrospinodentatal degeneration

• Autosomal dominant inheritance
• Pica
• Ataxia
• Nystagmus
• Ptosis

SOURCES: UMLS OMIM ORPHANET SCTID

Low 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

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ

) gene encoding a JmjC-domain protein with histone demethylase activity.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ Is also known as mental retardation, x-linked, syndromic, jarid1c-related;mrxsj;

• Intellectual disability
• Seizures
• Short stature
• Generalized hypotonia
• Microcephaly

SOURCES: SCTID UMLS DOID ORPHANET MONDO OMIM MESH

Low match WIEACKER-WOLFF SYNDROME; WRWF

Wieacker-Wolff syndrome is a severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental retardation. Carrier females may have mild features of the disorder (summary by Hirata et al., 2013).

WIEACKER-WOLFF SYNDROME; WRWF Is also known as wieacker syndrome, contractures of feet, muscle atrophy, and oculomotor apraxia, apraxia, oculomotor, with congenital contractures and muscle atrophy, miles-carpenter x-linked mental retardation syndrome;mcs, mental retardation, x-linked, syndromic 4;mrxs4, mental retardation, x-linked, with congenital contractures and low fingertip arches;foot contractures-muscle atrophy-oculomotor apraxia syndrome; wieacker-wolff syndrome

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

SOURCES: ORPHANET OMIM GARD MESH MONDO

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC Is also known as cabezas syndrome, mental retardation, x-linked, syndromic 15;mrxs15, mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait, mental retardation, x-linked, with short stature;mrss;cabezas syndrome

• Intellectual disability
• Seizures
• Short stature
• Generalized hypotonia
• Microcephaly

SOURCES: GARD SCTID DOID MONDO ORPHANET UMLS OMIM