Downslanted palpebral fissures, and Thick lower lip vermilion

• Short stature
• Hypertelorism
• Low-set ears
• Depressed nasal bridge
• Epicanthus

SOURCES: OMIM MENDELIAN

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23|spinocerebellar ataxia autosomal recessive type 23

• Intellectual disability
• Seizures
• Generalized hypotonia
• Ataxia
• Abnormal facial shape

SOURCES: ORPHANET OMIM MENDELIAN

This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.

• Hearing impairment
• Ataxia
• Strabismus
• Abnormal facial shape
• Macrocephaly

SOURCES: ORPHANET OMIM MENDELIAN

• Intellectual disability
• Short stature
• Scoliosis
• Hypertelorism
• Abnormal facial shape

SOURCES: MESH OMIM MENDELIAN

Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

• Intellectual disability
• Global developmental delay
• Growth delay
• Micrognathia
• Strabismus

SOURCES: OMIM ORPHANET MENDELIAN

• Short stature
• Microcephaly
• Growth delay
• Failure to thrive
• Micrognathia

SOURCES: OMIM MENDELIAN

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

• Intellectual disability
• Short stature
• Scoliosis
• Muscular hypotonia
• Cryptorchidism

SOURCES: OMIM ORPHANET MESH MENDELIAN

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

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

SOURCES: OMIM ORPHANET MENDELIAN

ADNP syndrome is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, global developmental delay, severely delayed speech, behavioral problems, pain insensitivity, sleep problems, seizures, structural brain anomalies, dysmorphic features, visual problems and autism.

ADNP SYNDROME Is also known as adnp-related syndromic intellectual disability-autism spectrum disorder|hvdas|mental retardation, autosomal dominant 28|mrd28|helsmoortel-van der aa syndrome

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

SOURCES: ORPHANET OMIM MENDELIAN

Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

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

SOURCES: OMIM MENDELIAN