Delayed speech and language development, and Rigidity

Medium match X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME

, Xp22.13).

• Intellectual disability
• Spasticity
• Hypertonia
• Rigidity
• Status epilepticus

SOURCES: ORPHANET

Medium match PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8

• Autosomal dominant inheritance
• Seizures
• Pica
• Cognitive impairment
• Delayed speech and language development

SOURCES: DOID MONDO UMLS OMIM

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37

Early infantile epileptic encephalopathy-37 is an autosomal recessive severe epileptic-dyskinetic disorder characterized by onset of intractable seizures or abnormal movements in the first years of life. Affected individuals show global developmental delay and/or developmental regression after onset of seizures. Patients also show a hyperkinetic movement disorder with choreoathetosis, spasticity, and rigidity. The individuals are severely affected, with mental retardation, absent speech, and impaired volitional movements (summary by Madeo et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

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

SOURCES: UMLS MONDO OMIM

Medium match WAISMAN SYNDROME; WSMN

Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

WAISMAN SYNDROME; WSMN Is also known as parkinsonism, early-onset, with mental retardation, basal ganglion disorder with mental retardation;bgmr, wsn;laxova-opitz syndrome; waisman syndrome

• Intellectual disability
• Seizures
• Global developmental delay
• Strabismus
• Cognitive impairment

SOURCES: OMIM MONDO MESH UMLS SCTID GARD ORPHANET

Medium 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

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 PARKINSONISM-DYSTONIA, INFANTILE; PKDYS

Infantile parkinsonism-dystonia, also known as dopamine transporter deficiency syndrome (DTDS), is an autosomal recessive complex motor neurologic disorder with onset in infancy. Affected individuals show hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with parkinsonian features, such as bradykinesia, rigidity, and tremor. Other features may include axial hypotonia, pyramidal tract signs, and eye movement abnormalities. Many patients are misdiagnosed as having cerebral palsy. Cognitive function appears to be less severely affected, but most patients die in the teenage years. There is no effective treatment. Laboratory studies show an increased ratio of homovanillic acid (HVA) to 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF), which represents an increase in dopamine metabolites (review by Kurian et al., 2011).For an overlapping phenotype, see tyrosine hydroxylase deficiency (OMIM ), also known as autosomal recessive Segawa syndrome.

PARKINSONISM-DYSTONIA, INFANTILE; PKDYS Is also known as dopamine transporter deficiency syndrome;dtds;ipd; pkdys

• Autosomal recessive inheritance
• Global developmental delay
• Generalized hypotonia
• Cognitive impairment
• Feeding difficulties

SOURCES: GARD MONDO UMLS SCTID OMIM NCIT ORPHANET MESH

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5

MRD5 is characterized by moderate to severe intellectual disability with delayed psychomotor development apparent in the first years of life. Most patients develop variable types of seizures, some have autism or autism spectrum disorder (see {209850}), and some have acquired microcephaly (summary by Berryer et al., 2013).

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

SOURCES: UMLS MONDO MESH OMIM DOID GARD

Medium match PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS

Partington syndrome is an X-linked developmental disorder characterized by mental retardation and variable movement disturbances. Partington syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly (LISX2 ) to Proud syndrome (OMIM ) to infantile spasms without brain malformations (EIEE1 ) to nonsyndromic mental retardation (OMIM ). Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected (Kato et al., 2004; Wallerstein et al., 2008).

PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS Is also known as partington syndrome, mental retardation, x-linked, syndromic 1;mrxs1, mental retardation, x-linked, with dystonic movements, ataxia, and seizures, mental retardation, x-linked 36;mrx36

• Intellectual disability
• Seizures
• Global developmental delay
• Hypertelorism
• Abnormal facial shape

SOURCES: OMIM

Medium match SALLA DISEASE; SD

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

SALLA DISEASE; SD Is also known as sialuria, finnish type;

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

SOURCES: ORPHANET OMIM UMLS MONDO SCTID GARD NCIT