Microcephaly, and Dolichocephaly

• Intellectual disability
• Seizures
• Global developmental delay
• Microcephaly
• Hypertelorism

SOURCES: OMIM MENDELIAN

Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC; see this term), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.

SMITH-MCCORT DYSPLASIA Is also known as smc

• Microcephaly
• Scoliosis
• Kyphosis
• Dolichocephaly
• Platyspondyly

SOURCES: ORPHANET OMIM MENDELIAN

Combined D-2- and L-2-hydroxyglutaric aciduria (D-2-HG and L-2-HG) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (summary by Muntau et al., 2000).See also isolated L-2-hydroxyglutaric aciduria (OMIM ) and isolated D-2-hydroxyglutaric aciduria (see {600721}).

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

SOURCES: ORPHANET OMIM MENDELIAN

Holoprosencephaly associated with mutations in the ZIC2 gene.

• Intellectual disability
• Global developmental delay
• Microcephaly
• Hypertelorism
• Abnormal facial shape

SOURCES: OMIM MESH MENDELIAN

MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

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

SOURCES: OMIM MENDELIAN

• Microcephaly
• Growth delay
• Failure to thrive
• Micrognathia
• Feeding difficulties

SOURCES: OMIM MENDELIAN

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.

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

SOURCES: ORPHANET OMIM MENDELIAN

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Microcephaly

SOURCES: OMIM MENDELIAN

• Global developmental delay
• Short stature
• Microcephaly
• Growth delay
• Failure to thrive

SOURCES: OMIM 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 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.

• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia
• Microcephaly

SOURCES: OMIM MENDELIAN