Delayed speech and language development, and Hyporeflexia

Medium match NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

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 ).

• Autosomal recessive inheritance
• Global developmental delay
• Short stature
• Muscle weakness
• Peripheral neuropathy

SOURCES: DOID MONDO OMIM UMLS

Medium match DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B

• Autosomal recessive inheritance
• Hearing impairment
• Sensorineural hearing impairment
• Motor delay
• Delayed speech and language development

SOURCES: UMLS OMIM DOID MONDO

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15 Is also known as salih ataxia;autosomal recessive spinocerebellar ataxia type 15; scar15; salih ataxia

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Ataxia
• Nystagmus

SOURCES: DOID MONDO UMLS OMIM ORPHANET

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53

Autosomal recessive mental retardation-53 is a neurodevelopmental disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar hypoplasia and ataxia. MRT53 is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Makrythanasis et al., 2016).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53 Is also known as glycosylphosphatidylinositol biosynthesis defect 13;gpibd13

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

SOURCES: OMIM UMLS MONDO

Medium 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

Medium 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

Medium match SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4

SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4 Is also known as ;autosomal recessive spastic ataxia type 4; spax4

• Autosomal recessive inheritance
• Ataxia
• Nystagmus
• Motor delay
• Delayed speech and language development

SOURCES: ORPHANET UMLS DOID GARD OMIM MONDO

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH

X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH Is also known as mental retardation, x-linked, with epilepsy;mrxe;mrxsh

• Intellectual disability
• Seizures
• Global developmental delay
• Scoliosis
• Motor delay

SOURCES: ORPHANET MESH DOID MONDO OMIM UMLS

Medium match LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; LBSL

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy (Scheper et al., 2007). Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline.

LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; LBSL Is also known as mitochondrial aspartyl-trna synthetase deficiency;lbsl; leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Generalized hypotonia
• Ataxia

SOURCES: MONDO UMLS MESH ORPHANET GARD SCTID OMIM

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12 Is also known as spinocerebellar ataxia with mental retardation and epilepsy;autosomal recessive spinocerebellar ataxia type 12; scar12

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

SOURCES: MONDO ORPHANET UMLS OMIM DOID