Microcephaly, and Dyspnea

• Intellectual disability
• Global developmental delay
• Microcephaly
• Feeding difficulties
• Respiratory distress

SOURCES: ORPHANET OMIM MENDELIAN

Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4 Is also known as coxpd4

• Generalized hypotonia
• Microcephaly
• Growth delay
• Nystagmus
• Spasticity

SOURCES: OMIM ORPHANET MESH MENDELIAN

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W Is also known as cdgiw|cdg iw

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

SOURCES: OMIM MENDELIAN

STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).

STT3B-CDG Is also known as cdg syndrome type ix|congenital disorder of glycosylation type ix|cdg1x|carbohydrate deficient glycoprotein syndrome type ix|cdg-ix|congenital disorder of glycosylation type 1x

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

SOURCES: ORPHANET MENDELIAN

Primary ciliary dyskinesia-25 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Tarkar et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.

CILIARY DYSKINESIA, PRIMARY, 25; CILD25 Is also known as ciliary dyskinesia, primary, 25, with or without situs inversus

• Microcephaly
• Respiratory distress
• Infertility
• Dyskinesia
• Bronchiectasis

SOURCES: OMIM MENDELIAN

• Seizures
• Generalized hypotonia
• Microcephaly
• Spasticity
• Respiratory distress

SOURCES: OMIM MENDELIAN

2-Methylbutyryl-CoA dehydrogenase (or Short/branched-chain acyl-coA dehydrogenase; SBCAD) deficiency is characterized by increased urinary excretion of 2-methylbutyrylglycine, and increased whole blood and plasma concentrations of 2-methylbutyryl (C5) carnitine. It has been described in less than 30 patients, mostly from the Hmong population, an ethnic group of Chinese origin. The phenotype is not well defined, ranging from completely asymptomatic patients to those with muscle hypotonia, cerebral palsy, developmental delay, lethargy, hypoglycemia, and metabolic acidosis. The disorder is transmitted as an autosomal recessive trait. The SBCAD enzyme catalyzes the conversion of 2-methylbutyryl-CoA to tiglyl-CoA in the isoleucine catabolic pathway. Mutations in the SBCAD gene (located on chromosome 10q25-26) have been reported in affected patients. Treatment includes carnitine supplementation and a low-protein diet.

2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY Is also known as sbcadd|sbcad deficiency|short/branched-chain acyl-coa dehydrogenase deficiency|developmental delay due to 2-methylbutyryl-coa dehydrogenase deficiency|2-methylbutyric aciduria|2-methylbutyryl glycinuria

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

SOURCES: OMIM ORPHANET MESH MENDELIAN

STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).

STT3A-CDG Is also known as congenital disorder of glycosylation type 1w|congenital disorder of glycosylation type iw|cdgix|cdg ix|cdg1w|cdg-iw|cdg syndrome type iw

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

SOURCES: OMIM ORPHANET MENDELIAN

Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

ROLANDIC EPILEPSY Is also known as becrs|bre|benign rolandic epilepsy|bects|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes

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

SOURCES: ORPHANET OMIM MENDELIAN

Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by Bricker et al., 2012).

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

SOURCES: ORPHANET OMIM MENDELIAN