Delayed speech and language development, and Open mouth

Medium match MENTAL RETARDATION, X-LINKED 30; MRX30

MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47;mrx47

• Intellectual disability
• Seizures
• Generalized hypotonia
• Microcephaly
• High palate

SOURCES: OMIM UMLS MONDO

Medium match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR Is also known as ;

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

SOURCES: UMLS ORPHANET OMIM MONDO

Medium match MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES

Mental retardation with language impairment and with or without autistic features is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by Le Fevre et al., 2013).

MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Is also known as ;

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

SOURCES: GARD MONDO UMLS ORPHANET OMIM

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

EIEE49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly
• Hyperreflexia

SOURCES: MONDO UMLS OMIM

Medium match 5Q14.3 MICRODELETION SYNDROME

The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as del(5)(q14.3); monosomy 5q14.3

• Seizures
• Strabismus
• Muscular hypotonia
• Feeding difficulties
• Delayed speech and language development

SOURCES: ORPHANET

Medium match SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cerebral palsy, spastic quadriplegic, 5, formerly;cpsq5, formerly

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

SOURCES: MONDO OMIM DOID UMLS

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 Is also known as ;

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

SOURCES: ORPHANET DOID OMIM MONDO UMLS

Medium match 2Q23.1 MICRODELETION SYNDROME

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as del(2)(q23.1); monosomy 2q23.1; pseudo-angelman syndrome

• Seizures
• Short stature
• Microcephaly
• Ataxia
• Growth delay

SOURCES: ORPHANET

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48

MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48 Is also known as ;

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

SOURCES: MONDO UMLS DOID ORPHANET OMIM

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

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

SOURCES: MONDO UMLS DOID OMIM