Microcephaly, and Dyspnea

Diseases related with Microcephaly and Dyspnea

In the following list you will find some of the most common rare diseases related to Microcephaly and Dyspnea that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about KETOACIDOSIS DUE TO MONOCARBOXYLATE TRANSPORTER-1 DEFICIENCY

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W

Other less relevant matches:

Medium match STT3B-CDG

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

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about STT3B-CDG

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

Related symptoms:

  • Microcephaly
  • Respiratory distress
  • Infertility
  • Dyskinesia
  • Bronchiectasis


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 25; CILD25

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY

Medium match STT3A-CDG

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about STT3A-CDG

Medium match ROLANDIC EPILEPSY

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROLANDIC EPILEPSY

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).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY

Top 5 symptoms//phenotypes associated to Microcephaly and Dyspnea

Symptoms // Phenotype % cases
Respiratory distress Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Acidosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microcephaly and Dyspnea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Feeding difficulties Intrauterine growth retardation Vomiting Lactic acidosis Abnormal glycosylation Scrotal hypoplasia Micropenis Thrombocytopenia Cerebellar atrophy Metabolic acidosis Cryptorchidism Failure to thrive Optic atrophy Encephalopathy

Rare Symptoms - Less than 30% cases

Hepatomegaly Hypertonia Hypoglycemia Apnea Increased serum lactate Nystagmus Spasticity Abnormal facial shape Impaired smooth pursuit Optic nerve hypoplasia Decreased liver function Apneic episodes in infancy Hyperglycinuria Hypothermia Generalized amyotrophy Poor eye contact Organic aciduria Ventriculomegaly Exotropia Coma Lethargy Irritability Skeletal muscle atrophy Motor delay Muscular hypotonia Anemia Myoclonus Respiratory insufficiency Brain atrophy Peripheral neuropathy Epicanthus Prenatal movement abnormality Fetal distress Enterocolitis Muscle fibrillation Clonus Postnatal microcephaly Abdominal distention Hypoplasia of the corpus callosum Poor speech Persistent lactic acidosis Babinski sign Rotary nystagmus Thin upper lip vermilion Wide intermamillary distance Progressive microcephaly Generalized tonic-clonic seizures Long philtrum Strabismus Left atrial isomerism Abnormal posturing Hepatic failure Abnormality of the genital system Abnormality of brain morphology Progressive encephalopathy Opisthotonus Hyperammonemia Leukodystrophy Premature birth Polymicrogyria Developmental regression Dyskinesia Muscular hypotonia of the trunk Neonatal hypotonia Respiratory failure Growth delay Ketotic hypoglycemia Ketonuria Ketoacidosis Dehydration Atrial septal defect Infertility Bronchiectasis Biventricular hypertrophy Depressivity Primitive reflex Reduced ejection fraction Central hypotonia Hypoventilation Decreased fetal movement Gliosis Hepatic steatosis Hypertrophic cardiomyopathy Cardiomyopathy Situs inversus totalis Immotile cilia Dyslexia Chronic obstructive pulmonary disease Polysplenia Recurrent sinusitis Decreased fertility Ciliary dyskinesia Dextrocardia Neonatal respiratory distress Increased serum pyruvate


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