Epicanthus, and Abnormal cardiac septum morphology

• Intellectual disability
• Global developmental delay
• Short stature
• Hypertelorism
• Abnormal facial shape

SOURCES: MESH OMIM MENDELIAN

Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.

• Intellectual disability
• Seizures
• Short stature
• Microcephaly
• Growth delay

SOURCES: ORPHANET MENDELIAN

20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.

20P12.3 MICRODELETION SYNDROME Is also known as del(20)(p12.3)|monosomy 20p12.3

• Seizures
• Global developmental delay
• Short stature
• Hypertelorism
• Muscular hypotonia

SOURCES: ORPHANET MENDELIAN

CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

• Intellectual disability
• Global developmental delay
• Short stature
• Hypertelorism
• Micrognathia

SOURCES: OMIM ORPHANET MENDELIAN

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

• Microcephaly
• Growth delay
• Hypertelorism
• Neoplasm
• Failure to thrive

SOURCES: MESH OMIM MENDELIAN

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

SOURCES: OMIM MENDELIAN

Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

• Global developmental delay
• Short stature
• Hypertelorism
• Strabismus
• Abnormal facial shape

SOURCES: OMIM MESH MENDELIAN

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

• Seizures
• Generalized hypotonia
• Hypertelorism
• Micrognathia
• Muscular hypotonia

SOURCES: OMIM MENDELIAN

Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

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

SOURCES: OMIM ORPHANET MENDELIAN

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

SOURCES: MESH OMIM MENDELIAN