Motor delay, and Pneumonia

Diseases related with Motor delay and Pneumonia

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


Top matches:

Medium match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2


Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

Medium match BRAIN-LUNG-THYROID SYNDROME


Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).

BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRAIN-LUNG-THYROID SYNDROME

Medium match INFANTILE DYSTONIA-PARKINSONISM


Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.

INFANTILE DYSTONIA-PARKINSONISM Is also known as dopamine transporter deficiency syndrome|ipd|pkdys|dtds

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE DYSTONIA-PARKINSONISM

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Other less relevant matches:

Medium match LEUKODYSTROPHY, HYPOMYELINATING, 15; HLD15


Hypomyelinating leukodystrophy-15 is an autosomal recessive neurodegenerative disorder characterized by onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. The severity of the disorder is variable (summary by Mendes et al., 2018)For a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 15; HLD15

Medium match MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY


Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Medium match PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY


Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY Is also known as pepck deficiency|pc deficiency|leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis ii|leigh syndrome due to pyruvate carboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY

Medium match EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME


EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

Medium match MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY


Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age (summary by Mimaki et al., 2010).See also transient infantile liver failure (LFIT ), which is a similar disorder.

MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY Is also known as mitochondrial myopathy with reversible complex iv deficiency|mitochondrial myopathy with reversible cox deficiency|cox deficiency myopathy, infantile, transient|benign cox deficiency|mitochondrial myopathy, infantile, transient, due to respiratory chain d

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Ptosis
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY

Medium match OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18


Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18

Medium match PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY


Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Motor delay and Pneumonia

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Motor delay and Pneumonia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Ataxia Seizures Dystonia Respiratory distress Dysarthria Spasticity Dysphagia Hepatomegaly Abnormal pyramidal sign Tremor Cognitive impairment Athetosis Recurrent pneumonia Muscle weakness High palate Acidosis Respiratory tract infection Lactic acidosis Growth delay Increased serum lactate Encephalopathy

Rare Symptoms - Less than 30% cases


Congestive heart failure Hyperkinesis Myopathy Flexion contracture Areflexia Hyporeflexia Gastroesophageal reflux Severe lactic acidosis Delayed speech and language development Hyperalaninemia Facial palsy Generalized muscle weakness Optic atrophy Leukodystrophy Metabolic acidosis Hypoglycemia Infantile muscular hypotonia Increased serum pyruvate Chorea Immunodeficiency Hypothyroidism Respiratory insufficiency Abnormality of movement Recurrent respiratory infections Respiratory failure Splenomegaly Autoimmune thrombocytopenia Impaired T cell function Poor head control Nasal speech Restrictive ventilatory defect Recurrent viral infections Recurrent lower respiratory tract infections Long fingers Spastic diplegia Autoimmune hemolytic anemia Bulbar palsy Recurrent upper respiratory tract infections Spastic tetraparesis Recurrent bacterial infections Difficulty running Increased connective tissue Diaphragmatic paralysis Respiratory arrest Increased endomysial connective tissue Ptosis Severe muscular hypotonia Hypouricemia Decreased fetal movement Lymph node hypoplasia Increased head circumference Necrotizing encephalopathy Periventricular cysts Chronic metabolic acidosis Congenital lactic acidosis Neuronal loss in the cerebral cortex Scoliosis Cleft palate Talipes equinovarus Pectus excavatum Pes planus Brain abscess Cerebral vasculitis Recurrent opportunistic infections Abnormal T cell morphology Neonatal hypotonia Autoimmune neutropenia Paralysis Camptodactyly of finger Muscular dystrophy Pure red cell aplasia Elevated serum creatine phosphokinase Hepatic failure Myalgia Spastic tetraplegia Joint hypermobility Recurrent fractures Blue sclerae Bowing of the long bones Long eyelashes Tetraparesis Wormian bones Disproportionate tall stature Femoral bowing Otitis media Broad forehead Lymphoma Pathologic fracture Long palpebral fissure Thin ribs Vertebral compression fractures Generalized osteoporosis Thin bony cortex Biconcave vertebral bodies Tetraplegia Behavioral abnormality Arachnodactyly Proximal renal tubular acidosis Hyperlordosis Neck muscle weakness Babinski sign Macroglossia Waddling gait Lymphopenia Sinusitis Lumbar hyperlordosis Respiratory insufficiency due to muscle weakness Ragged-red muscle fibers Myopathic facies Mitochondrial myopathy Umbilical hernia Decreased plasma carnitine Cytochrome C oxidase-negative muscle fibers Increased muscle lipid content Increased muscle glycogen content Muscle fiber hypertrophy Micrognathia Recurrent urinary tract infections Wide nasal bridge Abnormality of the dentition Hernia Joint laxity Cardiomegaly Cystinuria Absent speech Abnormal lung morphology Neonatal respiratory distress Interstitial pulmonary abnormality Abnormality of the thyroid gland Congenital hypothyroidism Parkinsonism with favorable response to dopaminergic medication Increased thyroid-stimulating hormone level Compensated hypothyroidism Thyroid dysgenesis Hypertonia Constipation Asthma Rigidity Muscular hypotonia of the trunk Abnormality of the eye Irritability Abnormality of eye movement Dyskinesia Parkinsonism Bradykinesia Involuntary movements Cerebral palsy Choreoathetosis Sleep disturbance Hypokinesia Round face Hypertelorism Abnormal facial shape Low-set ears Depressed nasal bridge Epicanthus Anteverted nares Short nose Recurrent infections Retrognathia Everted lower lip vermilion Decreased antibody level in blood Abnormal cardiac septum morphology Short chin Agammaglobulinemia Chronic bronchitis Fever Skeletal muscle atrophy Ventricular septal defect Atrial septal defect Gait ataxia Difficulty walking Apnea Delayed gross motor development Limb dystonia Dysgraphia Decreased activity of mitochondrial respiratory chain Small for gestational age Poor speech Tachycardia Ascites Bradycardia Pleural effusion Aspiration pneumonia Ketonuria Wolff-Parkinson-White syndrome Sinus bradycardia Macrocephaly Arrhythmia Intellectual disability, severe Vomiting Renal insufficiency Clonus Tachypnea Hyperammonemia CNS hypomyelination Renal tubular acidosis Ketoacidosis Periventricular leukomalacia Hypertrophic cardiomyopathy Cardiomyopathy Limb hypertonia Sensorineural hearing impairment Hypomimic face Morphological abnormality of the pyramidal tract Orofacial dyskinesia Oculogyric crisis Ocular flutter Abnormality of carboxylic acid metabolism Short stature Hearing impairment Microcephaly Nystagmus Hypoplasia of the corpus callosum Amblyopia Cerebellar atrophy Cerebral atrophy Visual loss Severe short stature Developmental regression Hypermetropia Inability to walk Abnormal cerebellum morphology Progressive cerebellar ataxia Progressive visual loss Intention tremor Abnormality of B cell physiology



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