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.
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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
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
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
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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
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
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
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
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
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
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
|
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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
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Skeletal muscle atrophy and Neuronal loss in central nervous system, related diseases and genetic alterations
Spasticity and Paresthesia, related diseases and genetic alterations
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