Cognitive impairment, and Premature birth

Diseases related with Cognitive impairment and Premature birth

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Premature birth that can help you solving undiagnosed cases.


Top matches:

Medium match CHILDHOOD-ONSET MOTOR AND COGNITIVE REGRESSION SYNDROME WITH EXTRAPYRAMIDAL MOVEMENT DISORDER


CONDBA is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows progressive cerebral and cerebellar atrophy (summary by Edvardson et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHILDHOOD-ONSET MOTOR AND COGNITIVE REGRESSION SYNDROME WITH EXTRAPYRAMIDAL MOVEMENT DISORDER

Medium match PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION


Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010).The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD ), which is caused by mutation in the PLP1 gene (OMIM ). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION

Medium match RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY


Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match PELIZAEUS-MERZBACHER DISEASE; PMD


Pelizaeus-Merzbacher disease is an X-linked recessive hypomyelinative leukodystrophy (HLD1) in which myelin is not formed properly in the central nervous system. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay (Inoue, 2005). Genetic Heterogeneity of Hypomyelinating LeukodystrophyOther forms of hypomyelinating leukodystrophy include HLD2 (OMIM ), caused by mutation in the GJC2/GJA12 gene (OMIM ) on chromosome 1q41; HLD3 (OMIM ), caused by mutation in the AIMP1 gene (OMIM ) on chromosome 4q24; HLD4 (OMIM ), caused by mutation in the HSPD1 gene (OMIM ) on chromosome 2q33.1; and HLD5 (OMIM ), caused by mutation in the FAM126A gene (OMIM ) on chromosome 7p15; HLD6 (OMIM ), caused by mutation in the TUBB4A gene (OMIM ) on chromosome 19p13; HLD7 (OMIM ), caused by mutation in the POLR3A gene (OMIM ) on chromosome 10q22; HLD8 (OMIM ), caused by mutation in the POLR3B gene (OMIM ) on chromosome 12q23; HLD9 (OMIM ), caused by mutation in the RARS gene (OMIM ) on chromosome 5; HLD10 (OMIM ), caused by mutation in the PYCR2 gene (OMIM ) on chromosome 1q42; HLD11 (OMIM ), caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21; HLD12 (OMIM ), caused by mutation in the VPS11 gene (OMIM ) on chromosome 11q23; HLD13 (OMIM ) caused by mutation in the HIKESHI gene (OMIM ) on chromosome 11q14; HLD14 (OMIM ), caused by mutation in the UFM1 gene (OMIM ) on chromosome 13q13; HLD15 (OMIM ), caused by mutation in the EPRS gene (OMIM ) on chromosome 1q41; HLD16 (OMIM ), caused by mutation in the TMEM106B gene (OMIM ) on chromosome 7p21; and HLD17 (OMIM ), caused by mutation in the AIMP2 gene (OMIM ) on chromosome 7p22.

PELIZAEUS-MERZBACHER DISEASE; PMD Is also known as leukodystrophy, hypomyelinating, 1|hld1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER DISEASE; PMD

Low match MYOTONIC DYSTROPHY 1; DM1


Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

Low match SYNDROMIC DIARRHEA


Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

Low match FETAL GAUCHER DISEASE


Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease|gaucher disease, collodion type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FETAL GAUCHER DISEASE

Low match ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Top 5 symptoms//phenotypes associated to Cognitive impairment and Premature birth

Symptoms // Phenotype % cases
Intellectual disability 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
Failure to thrive Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cognitive impairment and Premature birth. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intrauterine growth retardation

Uncommon Symptoms - Between 30% and 50% cases


Developmental regression Spasticity Dysphagia Microcephaly Brain atrophy Growth delay Muscular hypotonia Abnormal facial shape Abnormal pyramidal sign Gliosis Visual impairment Skeletal muscle atrophy Short stature Thrombocytopenia Edema Dystonia Anemia Hepatomegaly Depressed nasal bridge Abnormality of the liver Hepatic failure Hyperreflexia Strabismus Micrognathia Scoliosis Delayed speech and language development Talipes equinovarus Talipes Stroke Polyhydramnios Respiratory distress Neonatal hypotonia Dementia Respiratory insufficiency Myoclonus Leukodystrophy Peripheral neuropathy Cerebellar atrophy Abnormality of movement Mental deterioration Muscular hypotonia of the trunk Cerebral cortical atrophy Vomiting Nystagmus Flexion contracture Ataxia

Rare Symptoms - Less than 30% cases


Abnormal cerebellum morphology Dilatation Congestive heart failure Nonimmune hydrops fetalis Cardiac arrest Hydrops fetalis Decreased fetal movement Feeding difficulties in infancy Myalgia Renal insufficiency Respiratory failure Myopathy Intellectual disability, severe Migraine Pneumonia Motor delay Hypertelorism Cataract Muscle weakness Arteriovenous malformation Progressive spasticity Optic atrophy Stage 5 chronic kidney disease Babinski sign Hyporeflexia Kyphosis Ptosis Ventriculomegaly Cardiomyopathy Cirrhosis Abnormality of the pinna Metabolic acidosis Sparse hair Abnormality of eye movement Microtia Pulmonic stenosis Apnea Jaundice Tetralogy of Fallot Pancytopenia Fine hair Depressed nasal ridge Leukopenia Villous atrophy Elevated hepatic transaminase Proptosis Low-set ears Cardiomegaly Abnormality of the kidney Osteopenia Patent ductus arteriosus Atrial septal defect Hypertension Cardiorespiratory arrest Ventricular septal defect Narrow mouth Anteverted nares Diarrhea Immunodeficiency Ascites Hernia Abnormal heart morphology Coarctation of aorta Hypertonia Hearing impairment Polymicrogyria Downslanted palpebral fissures Myopia Wide nasal bridge High palate Diffuse cerebral sclerosis Sudanophilic leukodystrophy Rotary nystagmus Corpus callosum atrophy Global brain atrophy CNS hypomyelination Progressive neurologic deterioration Arthrogryposis multiplex congenita Retrognathia Severe global developmental delay EEG abnormality Feeding difficulties Dysarthria Hypoplasia of the corpus callosum Rigidity Kyphoscoliosis Cerebral atrophy High pitched voice Increased body weight Chorea Syndactyly Intellectual disability, profound Pericardial effusion Aplasia cutis congenita on trunk or limbs Recurrent infections Headache Cardiogenic shock Abnormality of the dentition Inability to walk Neurodegeneration Progressive macrocephaly Short neck Necrotizing encephalopathy Fever Aplasia cutis congenita over posterior parietal area Hypothyroidism Acrania Imperforate hymen Periventricular cysts Cutis marmorata telangiectatica congenita Absent toe Abnormal pulmonary valve morphology Venous malformation Absent fingernail Absent hand Aplastic/hypoplastic toenail Congenital lactic acidosis Hyperactivity Thin upper lip vermilion Aplasia cutis congenita of scalp Neutropenia Decreased activity of mitochondrial respiratory chain Abnormal lung morphology Lumbar hyperlordosis Nephrotic syndrome Microdontia Axial dystonia Decreased testicular size Waddling gait Lymphoma Biventricular hypertrophy Infantile encephalopathy Nephropathy Proteinuria Bulbous nose Abnormality of skin pigmentation Macrovesicular hepatic steatosis Astigmatism Malabsorption Platyspondyly Hip dislocation Corneal opacity Autoimmunity Scarring Hyperlordosis Chylothorax Periventricular leukomalacia Acute pancreatitis Leukemia Hemiparesis Small nail Pulmonary arterial hypertension Postural instability Nail dysplasia Esotropia Gastrointestinal hemorrhage Short distal phalanx of finger Cleft upper lip Toe syndactyly Finger syndactyly Encephalocele Prominent nasal bridge Abnormal cardiac septum morphology Parkinsonism Acute necrotizing encephalopathy Cerebellar hypoplasia Alopecia Peripheral demyelination Abnormality of cardiovascular system morphology Microphthalmia Generalized-onset seizure Hydrocephalus Split hand Abnormal mitochondria in muscle tissue Porencephalic cyst Aplasia cutis congenita Congenital hepatic fibrosis Esophageal varix Abnormality of the upper limb Pulmonary artery atresia Hypoplastic fingernail Abnormality of the lower limb Calvarial skull defect Double outlet right ventricle Pulmonary artery stenosis Central hypotonia Oligodactyly Cutaneous finger syndactyly Pachygyria Aplasia/Hypoplasia of the skin Cortical dysplasia Hypoplastic left heart Supernumerary nipple Cutis marmorata Portal hypertension Abnormality of the metacarpal bones Bicuspid aortic valve Meningitis Aortic valve stenosis Telangiectasia Stiff neck Abnormal form of the vertebral bodies Adrenal insufficiency Encephalopathy Irritability Abnormality of the eye Hypertrophic cardiomyopathy Proximal muscle weakness Poor eye contact Hypoglycemia Acidosis Agenesis of corpus callosum Weak cry Areflexia Blindness Retinopathy Fatigue Macrocephaly Sensorineural hearing impairment Lateral displacement of the femoral head Nephrosclerosis Basal ganglia calcification Anterior pituitary dysgenesis Renal tubular acidosis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Pallor Lethargy Encephalomalacia Ventricular hypertrophy Oral-pharyngeal dysphagia Incoordination Ragged-red muscle fibers Leukoencephalopathy Shock Pancreatitis Exercise intolerance Horizontal nystagmus Aspiration Wide anterior fontanel Left ventricular hypertrophy Congenital diaphragmatic hernia Limb muscle weakness Optic disc pallor Pigmentary retinopathy Cyanosis Febrile seizures Increased serum lactate Generalized myoclonic seizures Progressive cerebellar ataxia Coma Hepatic steatosis Dyskinesia Lactic acidosis Abnormal T cell morphology Increased thyroid-stimulating hormone level Heterotopia Abnormality of the skeletal system Hypermelanotic macule Combined immunodeficiency Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Wolff-Parkinson-White syndrome Severe lactic acidosis Melanocytic nevus Nephritis Glomerulonephritis Epiphyseal dysplasia Encephalitis Nemaline bodies Cerebral edema Chronic kidney disease Coarse hair Reduced bone mineral density Azoospermia Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Lymphopenia Abnormality of epiphysis morphology Increased CSF lactate Steatorrhea Shallow acetabular fossae Cerebral ischemia Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Optic neuropathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Lymphoproliferative disorder Multiple cafe-au-lait spots B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Progressive encephalopathy Thoracic kyphosis Mitochondrial myopathy Aspiration pneumonia Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Glomerulopathy Glomerulosclerosis Sudden episodic apnea Brachydactyly Atrial fibrillation Centrally nucleated skeletal muscle fibers Thin ribs Alzheimer disease Myotonia Cholelithiasis Atrioventricular block Ventricular tachycardia Intellectual disability, progressive Spontaneous abortion Insulin resistance Progressive muscle weakness Intellectual disability, mild Abnormal EKG Mitral valve prolapse Sensory neuropathy Tachycardia Unsteady gait Lower limb muscle weakness Muscular dystrophy Delayed skeletal maturation Autism Postnatal growth retardation Autistic behavior Hypogonadism Neurofibrillary tangles Heart block Carious teeth Rapid neurologic deterioration Respiratory tract infection Spastic paraparesis Spastic tetraparesis Decreased muscle mass Osteoporosis Prominent forehead Ankle clonus Severe failure to thrive Long philtrum Progressive spastic paraparesis Progressive flexion contractures Frontal bossing Facial diplegia Projectile vomiting Cryptorchidism Ring fibers Percussion myotonia Obsessive-compulsive trait Narcolepsy Excessive daytime sleepiness Frontal balding First degree atrioventricular block Testicular atrophy Atrial flutter Arrhythmia Genu valgum Paraparesis Delayed gross motor development Clumsiness Broad-based gait Choreoathetosis Spastic tetraplegia Tetraplegia Paraplegia Spastic paraplegia Neurological speech impairment Paralysis Joint stiffness Narrow palate Recurrent respiratory infections Lower limb spasticity Overlapping toe Broad hallux Long nose Behavioral abnormality Low hanging columella Preeclampsia Gait disturbance Tremor Overbite Pes valgus Mild myopia Involuntary movements Muscle stiffness Hirsutism Progressive spastic quadriplegia Highly arched eyebrow Intestinal malrotation Dental malocclusion Prominent nose Pain Convex nasal ridge Reduction of oligodendroglia Congenital laryngeal stridor Head titubation Macrogyria Cerebral dysmyelination Scanning speech Cerebral palsy Psychomotor deterioration Broad thumb Head tremor Abnormality of visual evoked potentials Long eyelashes Bowel incontinence Spastic diplegia Stridor Spinal muscular atrophy Failure to thrive in infancy Cachexia Abnormality of the urinary system Wide mouth Clonus Cleft palate Purpura Abnormality of coagulation Thoracic hypoplasia Multiple joint contractures Neonatal respiratory distress Akinesia Apathy Pleural effusion Congenital contracture Ectropion Intracranial hemorrhage Poor suck Knee flexion contracture Petechiae Thickened skin Abnormality of the face Open mouth Interphalangeal joint contracture of finger Language impairment Oligohydramnios Cerebral calcification Underdeveloped nasal alae Abnormal bleeding Triangular face Impulsivity Opisthotonus Hypokinesia High, narrow palate Hepatic necrosis Mild fetal ventriculomegaly Enlarged fetal cisterna magna Abnormality of the microglia Hydropic placenta Low voltage EEG Abnormality of the small intestine Abnormal pupillary function Decreased beta-glucocerebrosidase protein and activity Posterior helix pit Desquamation of skin soon after birth Myocardial necrosis Abnormality of the spinal cord Congenital ichthyosiform erythroderma Severe hydrops fetalis Generalized hyperkeratosis Everted upper lip vermilion Extramedullary hematopoiesis Pneumothorax Astrocytosis Abnormality of the spleen Abnormality of the larynx Congenital nonbullous ichthyosiform erythroderma Overlapping fingers Fetal akinesia sequence Distal arthrogryposis Everted lower lip vermilion Pulmonary hypoplasia Broad forehead Hepatic fibrosis Woolly hair Thrombocytosis Underdeveloped supraorbital ridges Iron deficiency anemia Curly hair Abnormality of the immune system Brittle hair Hypoalbuminemia Recurrent upper respiratory tract infections Aortic regurgitation Abnormality of the hair Chronic diarrhea Coarse facial features Focal-onset seizure Aciduria Bifid uvula Sepsis Wide nose Neuronal loss in central nervous system Hypsarrhythmia Dry skin Delayed puberty Tetraparesis Small for gestational age Large forehead Abnormality of the pancreas Ichthyosis Large placenta Axonal loss Camptodactyly Motor deterioration Low-set, posteriorly rotated ears Hepatosplenomegaly Hyperkeratosis Short nose Splenomegaly Anarthria Absent speech Abnormalities of placenta or umbilical cord Abnormality of iron homeostasis Abnormal thrombocyte morphology Galactosuria Humoral immunodeficiency Hypermethioninemia Renal cortical microcysts Increased serum iron Hypergalactosemia Secretory diarrhea Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Trichorrhexis nodosa Peripheral pulmonary artery stenosis Exercise-induced lactic acidemia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Cholestasis, related diseases and genetic alterations Ventricular septal defect and Retrognathia, related diseases and genetic alterations Skeletal muscle atrophy and Neuronal loss in central nervous system, related diseases and genetic alterations Spasticity and Bifid uvula, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more