Delayed speech and language development, and Downturned corners of mouth

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

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

SOURCES: DOID MONDO UMLS OMIM

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome;prelds

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

SOURCES: DOID UMLS MONDO OMIM

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

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

SOURCES: OMIM UMLS MONDO MESH

High match SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS Is also known as ;spprs syndrome; spastic paraplegia-psychomotor retardation-seizures syndrome

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

SOURCES: MONDO OMIM ORPHANET UMLS

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23

MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 Is also known as ;

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

SOURCES: ORPHANET OMIM DOID UMLS MONDO

High match DESANTO-SHINAWI SYNDROME; DESSH

DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

DESANTO-SHINAWI SYNDROME; DESSH Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities;

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

SOURCES: OMIM ORPHANET UMLS

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

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

SOURCES: MESH MONDO OMIM DOID UMLS

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Hearing impairment

SOURCES: MONDO UMLS DOID OMIM

High match MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN

X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN Is also known as mental retardation, x-linked, syndromic 30;mrxs30;x-linked intellectual disability-nail dystrophy-seizures syndrome

• Intellectual disability
• Seizures
• Depressed nasal bridge
• Macrocephaly
• Short neck

SOURCES: ORPHANET UMLS OMIM MONDO DOID

High match INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

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

SOURCES: MONDO EFO UMLS OMIM