Delayed speech and language development, and Brachycephaly

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 39; MRD39

• Autosomal dominant inheritance
• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Feeding difficulties

SOURCES: OMIM MONDO DOID UMLS

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 29; MRD29

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Hypertelorism
• Motor delay

SOURCES: GARD MONDO OMIM UMLS DOID

Medium match KLEEFSTRA SYNDROME 2; KLEFS2

Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: OMIM

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

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

SOURCES: OMIM UMLS MONDO MESH

Medium match MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

• Autosomal recessive inheritance
• Autosomal dominant inheritance
• Intellectual disability
• Generalized hypotonia
• Micrognathia

SOURCES: MONDO GARD OMIM UMLS

Medium match MENTAL RETARDATION, X-LINKED 1; MRX1

Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

MENTAL RETARDATION, X-LINKED 1; MRX1 Is also known as mrx, mental retardation, x-linked 18;mrx18, mental retardation, x-linked 78;mrx78;x-linked intellectual disability, atkin type

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: OMIM ORPHANET

Medium match 6Q16 DELETION SYNDROME

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16); monosomy 6q16; prader-willi-like syndrome due to deletion 6q16

• Global developmental delay
• Short stature
• Microcephaly
• Hypertelorism
• Nystagmus

SOURCES: ORPHANET

Medium 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

Medium 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

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