Global developmental delay, and Abnormal lung morphology

Diseases related with Global developmental delay and Abnormal lung morphology

In the following list you will find some of the most common rare diseases related to Global developmental delay and Abnormal lung morphology that can help you solving undiagnosed cases.

Top matches:

EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO Is also known as extraoral halitosis with dimethylsulfoxiduria|methanethiol oxidase deficiency|mto deficiency

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ptosis
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 6; SCKL6

Other less relevant matches:

Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.

DIHYDROPTERIDINE REDUCTASE DEFICIENCY Is also known as hyperphenylalaninemia due to dihydropteridine reductase deficiency|pku type 2|phenylketonuria type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIHYDROPTERIDINE REDUCTASE DEFICIENCY

Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4

X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.

X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY Is also known as xmea|vacuolar myopathy

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY

Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70 Is also known as spg70

Related symptoms:

  • Global developmental delay
  • Peripheral neuropathy
  • Intellectual disability, mild
  • Abnormality of movement
  • Nephrotic syndrome


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70

EIEE52 is an autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development that causes intellectual disability and other persistent neurologic abnormalities (summary by Patino et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY Is also known as severe combined immunodeficiency due to coronin-1a deficiency|scid due to coro1a deficiency|scid due to coronin-1a deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY

Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.

POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA Is also known as polymicrogyria with optic nerve hypoplasia

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA

Top 5 symptoms//phenotypes associated to Global developmental delay and Abnormal lung morphology

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Respiratory tract infection Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Abnormal lung morphology. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pneumonia

Rare Symptoms - Less than 30% cases

Neonatal hypotonia Recurrent respiratory infections Recurrent infections Immunodeficiency Abnormal facial shape Fever Motor delay Febrile seizures Hyperactivity Anemia Hemiclonic seizures Atypical absence seizures Developmental stagnation Generalized tonic-clonic seizures Epileptic encephalopathy Aspiration pneumonia Focal impaired awareness seizure Limb ataxia Generalized myoclonic seizures Status epilepticus Cyanosis Aspiration Lymphoma Attention deficit hyperactivity disorder Decreased proportion of CD4-positive T cells Colpocephaly Hypoplasia of the brainstem Optic nerve hypoplasia Intellectual disability, profound Polymicrogyria Agenesis of corpus callosum Hyporeflexia Papilloma Lymphadenopathy Recurrent sinopulmonary infections Lymphoproliferative disorder B-cell lymphoma Hodgkin lymphoma Lymphopenia Bronchiectasis Abnormality of the nervous system Abnormal pyramidal sign Nephrotic syndrome Spasticity Dystonia Depressed nasal bridge Hypertelorism Dysphagia Delayed speech and language development Short stature Myoclonus Tremor Decreased antibody level in blood Cognitive impairment Halitosis Muscle fibrillation Bilateral ptosis Pectus carinatum Skeletal muscle atrophy Ptosis Epicanthus Agammaglobulinemia Ataxia Abnormality of movement Abnormal myelination Hand tremor Progressive spastic paraplegia Interstitial pulmonary abnormality Lower limb spasticity Scoliosis Intellectual disability, mild Muscle weakness Peripheral neuropathy Autophagic vacuoles Generalized muscle weakness Hypertrophic cardiomyopathy Elevated serum creatine phosphokinase Myopathy Cardiomyopathy Abnormality of brainstem morphology


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