Delayed speech and language development, and Dystonia

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Abnormal facial shape

SOURCES: UMLS OMIM MONDO MESH

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

• Autosomal recessive inheritance
• Global developmental delay
• Generalized hypotonia
• Ataxia
• Motor delay

SOURCES: UMLS MONDO DOID OMIM

Low match DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2

Torsion dystonia-2 is an autosomal recessive neurologic disorder characterized by onset of symptoms in childhood or adolescence. 'Dystonia' is characterized by involuntary, sustained muscle contractions affecting 1 or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. DYT2 first affects distal limbs and later involves the neck, orofacial, and craniocervical regions. DYT2 is slowly progressive but mild overall (summary by Muller and Kupke, 1990; Nemeth, 2002; Khan et al., 2003).

DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2 Is also known as dystonia musculorum deformans 2;dyt2

• Autosomal recessive inheritance
• Delayed speech and language development
• Dysarthria
• Gait disturbance
• Tremor

SOURCES: GARD DOID ORPHANET UMLS MONDO NCIT OMIM MESH

Low match STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET; SNDC

STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET; SNDC Is also known as lenk-ploski syndrome;lenk-ploski syndrome

• Autosomal recessive inheritance
• Delayed speech and language development
• Hyperreflexia
• Dysphagia
• Hypertonia

SOURCES: ORPHANET OMIM UMLS MONDO

Low match HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT; HPANBH4

Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by Anikster et al., 2017).

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

SOURCES: ORPHANET OMIM UMLS MONDO

Low match LOPES-MACIEL-RODAN SYNDROME; LOMARS

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

SOURCES: UMLS OMIM

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13

Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13 Is also known as ;coxpd13

• Autosomal recessive inheritance
• Generalized hypotonia
• Growth delay
• Muscle weakness
• Myopathy

SOURCES: OMIM ORPHANET MONDO UMLS

Low match DYSTONIA 16; DYT16

Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

DYSTONIA 16; DYT16 Is also known as ;dyt16; early-onset dystonia parkinsonism

• Autosomal recessive inheritance
• Global developmental delay
• Motor delay
• Cognitive impairment
• Delayed speech and language development

SOURCES: MESH GARD MONDO DOID SCTID OMIM UMLS ORPHANET

Low match SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD

Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive neurologic disorder in which an enzyme defect in the GABA degradation pathway causes a consecutive elevation of gamma-hydroxybutyric acid (GHB) and GABA. The clinical features include developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances (summary by Reis et al., 2012).

SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD Is also known as ssadh deficiency, 4-hydroxybutyric aciduria, gaba metabolic defect, gamma-hydroxybutyric aciduria;4-hydroxybutyric aciduria; gamma-hydroxybutyric aciduria; ssadh deficiency

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

SOURCES: ORPHANET MONDO MESH SCTID DOID GARD UMLS OMIM

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17

Early infantile epileptic encephalopathy-17 is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements (summary by Nakamura et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

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

SOURCES: GARD UMLS MONDO OMIM