Delayed speech and language development, and Gastroesophageal reflux

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 47; MRD47

MENTAL RETARDATION, AUTOSOMAL DOMINANT 47; MRD47 Is also known as ;

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

SOURCES: MONDO UMLS OMIM ORPHANET DOID

High 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

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

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

SOURCES: DOID MONDO OMIM

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: OMIM UMLS MONDO

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

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

SOURCES: UMLS DOID MONDO OMIM GARD

High match PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8

Pontocerebellar hypoplasia type 8 is an autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum (summary by Mochida et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8 Is also known as ;pch8; pontocerebellar hypoplasia due to chmp1a mutation

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

SOURCES: MONDO DOID UMLS ORPHANET SCTID OMIM

High match STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME; SDSX

gene, localised to the Xp11.2 region.

STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME; SDSX Is also known as mental retardation, x-linked, stocco dos santos type;

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Microcephaly

SOURCES: UMLS GARD OMIM ORPHANET MESH MONDO SCTID

High match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

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

SOURCES: MONDO OMIM UMLS

High match MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC

MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC Is also known as ;congenital muscular dystrophy, davignon-chauveau type

• Autosomal recessive inheritance
• Generalized hypotonia
• Scoliosis
• Motor delay
• Cryptorchidism

SOURCES: MONDO OMIM ORPHANET UMLS

High match SWEENEY-COX SYNDROME; SWCOS

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

• Global developmental delay
• Hearing impairment
• Hypertelorism
• Micrognathia
• Ptosis

SOURCES: OMIM