Delayed speech and language development, and Blepharophimosis

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11

X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.

MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11 Is also known as shashi x-linked mental retardation syndrome;smrxs, mental retardation, x-linked, shashi type;syndromic x-linked intellectual disability type 11

• Intellectual disability
• Seizures
• Hearing impairment
• Sensorineural hearing impairment
• Abnormal facial shape

SOURCES: UMLS OMIM MONDO ORPHANET SCTID GARD MESH DOID

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48; MRT48

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48; MRT48 Is also known as ;

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Intellectual disability, severe
• Tremor

SOURCES: OMIM ORPHANET UMLS MONDO

Medium match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B

De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B Is also known as de barsy syndrome b;pycr1 deficiency; pyrroline-5-carboxylate reductase 1 deficiency

• Autosomal recessive inheritance
• Intellectual disability
• Hypertelorism
• Cryptorchidism
• Flexion contracture

SOURCES: OMIM ORPHANET MONDO DOID UMLS

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

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

SOURCES: UMLS MONDO OMIM MESH

Medium 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

Medium match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

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

SOURCES: UMLS MONDO OMIM

Medium match PIERPONT SYNDROME; PRPTS

Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.

PIERPONT SYNDROME; PRPTS Is also known as plantar lipomatosis, unusual facies, and developmental delay;plantar lipomatosis-facial dysmorphism-developmental delay syndrome; plantar lipomatosis-unusual facies-developmental delay syndrome

• Autosomal dominant inheritance
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: OMIM ORPHANET MONDO UMLS MESH

Medium match CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE

The Toriello-Carey syndrome is a multiple congenital anomaly disorder with variable systemic manifestations, most commonly including mental retardation, agenesis of the corpus callosum, postnatal growth delay, cardiac defects, usually septal defects, distal limb defects, and urogenital anomalies in affected males. Patients have facial dysmorphic features, micrognathia, including full cheeks, hypertelorism, flattened nasal bridge, anteverted nares, and short neck. Not all features are found in all patients and some patients may have additional features such as anal anomalies or hernias (review by Toriello et al., 2003).

CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE Is also known as toriello-carey syndrome;corpus callosum agenesis-blepharophimosis-robin sequence syndrome

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

SOURCES: GARD ORPHANET OMIM SCTID MONDO MESH UMLS

Medium match CHROMOSOME 15q13.3 DELETION SYNDROME

Heterozygous deletion of chromosome 15q13.3 is associated with a highly variable phenotype, even within families segregating the same deletion. Individuals with the deletion may have mild to moderate mental retardation or learning difficulties, or may have no cognitive deficits. Some individuals have epilepsy. Various dysmorphic features have been described, but there is no consistent or recognizable phenotype (review by van Bon et al., 2009). Patients with homozygous deletions in this region have severe neurodevelopmental problems, with epileptic encephalopathy, hypotonia, and poor growth (Endris et al., 2010).

CHROMOSOME 15q13.3 DELETION SYNDROME Is also known as chromosome 15q13.3 microdeletion syndrome;del(15)(q13.3); monosomy 15q13.3

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

SOURCES: ORPHANET GARD OMIM UMLS MONDO MESH DOID SCTID

Medium match NICOLAIDES-BARAITSER SYNDROME; NCBRS

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

NICOLAIDES-BARAITSER SYNDROME; NCBRS Is also known as sparse hair and mental retardation, nbs;nicolaides-baraitser syndrome

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

SOURCES: SCTID ORPHANET MESH OMIM MONDO GARD UMLS