Anemia, and Neonatal hypotonia

Diseases related with Anemia and Neonatal hypotonia

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


Top matches:

Low match PANCYTOPENIA-DEVELOPMENTAL DELAY SYNDROME


Pancytopenia-developmental delay syndrome is a rare, genetic, hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported.

PANCYTOPENIA-DEVELOPMENTAL DELAY SYNDROME Is also known as trilineage bone marrow failure-developmental delay syndrome

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Anemia
  • Thrombocytopenia
  • Neonatal hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PANCYTOPENIA-DEVELOPMENTAL DELAY SYNDROME

Low match PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY


Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11


COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

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Other less relevant matches:

Low match NIEMANN-PICK DISEASE, TYPE C1; NPC1


Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

Low match COG6-CGD


CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

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 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Low match OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Low match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0


Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Top 5 symptoms//phenotypes associated to Anemia and Neonatal hypotonia

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and Neonatal hypotonia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hepatomegaly

Uncommon Symptoms - Between 30% and 50% cases


Thrombocytopenia Growth delay Abnormal facial shape Polyhydramnios Respiratory insufficiency Intrauterine growth retardation Ventriculomegaly Hypoplasia of the corpus callosum Failure to thrive Cerebral atrophy Increased serum lactate Hearing impairment Abnormal bleeding Long philtrum Progressive neurologic deterioration Retrognathia Cerebral cortical atrophy Renal insufficiency Absent speech Myoclonus Micrognathia Cirrhosis Arthrogryposis multiplex congenita Developmental regression Hepatosplenomegaly Behavioral abnormality Hyperreflexia Spasticity Muscular hypotonia Metabolic acidosis Narrow mouth Dystonia Hypertelorism Acidosis High palate Epicanthus Thin upper lip vermilion Ataxia Respiratory distress Muscular hypotonia of the trunk Abnormality of eye movement

Rare Symptoms - Less than 30% cases


Neuronal loss in central nervous system Hepatic failure Everted lower lip vermilion Ascites Oligohydramnios Ichthyosis Chorea Strabismus Apnea Pneumonia Splenomegaly Open mouth Dysphagia Cardiorespiratory arrest Upslanted palpebral fissure Cognitive impairment Sepsis Deep philtrum Renal tubular dysfunction Jaundice Recurrent infections Talipes equinovarus Micronodular cirrhosis Protruding ear Flexion contracture Camptodactyly Gastroesophageal reflux Mandibular prognathia Renal tubular acidosis Cerebellar hypoplasia Inguinal hernia Cryptorchidism Scoliosis Pancytopenia Cerebellar atrophy Decreased fetal movement Malabsorption Abnormal cardiac septum morphology Abnormality of the liver Aggressive behavior Elevated hepatic transaminase Anteverted nares Short nose Low-set, posteriorly rotated ears Hyperkeratosis Dental crowding Breech presentation Depressed nasal bridge Vomiting Areflexia Spastic tetraplegia Coma Lethargy Feeding difficulties Respiratory failure Hyporeflexia Encephalopathy Delayed myelination Hemolytic anemia Short neck Lactic acidosis Dysarthria Optic atrophy Hypertonia Hepatic steatosis Periventricular cysts Epileptic encephalopathy Hyponatremia Irritability Developmental stagnation Deeply set eye Arthritis Triangular mouth Duplicated collecting system Anxiety Hemoglobinuria Seborrheic dermatitis High anterior hairline Infantile spasms EEG abnormality Intellectual disability, moderate Pierre-Robin sequence Epileptic spasms Feeding difficulties in infancy Central hypotonia Absent septum pellucidum Proteinuria Alveolar ridge overgrowth Microphthalmia Visual impairment Kyphosis Depressivity Abnormality of the dentition Blindness Frontal bossing Constipation Recurrent respiratory infections Motor delay Cataract Umbilical hernia Large for gestational age Nystagmus Short stature Abnormality of the pons Glaucoma Reduced visual acuity Birth length greater than 97th percentile Olfactory lobe agenesis Prominent occiput Hyperkalemia Overfolded helix Malar flattening Stroke Wide mouth Abnormality of the eye Coarse facial features Micropenis Infantile muscular hypotonia Posteriorly rotated ears Patent ductus arteriosus Obesity Atrial septal defect Wide nose Macrocephaly Cleft palate 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 Short distal phalanx of finger Downturned corners of mouth Scaling skin Large fontanelles Redundant skin Elevated alkaline phosphatase Leukopenia Camptodactyly of finger Widely spaced teeth Multicystic kidney dysplasia Cerebral visual impairment Gingival overgrowth Tall stature Postnatal microcephaly Inflammatory abnormality of the skin Generalized myoclonic seizures Small nail Hypsarrhythmia Generalized-onset seizure Limb undergrowth Overgrowth Microdontia Webbed neck Vesicoureteral reflux Gliosis Abnormality of the outer ear Joint stiffness Carious teeth Attention deficit hyperactivity disorder Periodontitis Abnormality of the renal tubule Lacrimation abnormality Abnormal pupil morphology Buphthalmos Hyperphosphaturia Atelectasis Generalized hypopigmentation Bone marrow hypocellularity Taurodontia Hyperaldosteronism Keloids Gingivitis Atypical scarring of skin Patellar dislocation Multiple renal cysts Joint swelling Osteomalacia Glomerulopathy Abnormal joint morphology Hyperparathyroidism Pathologic fracture Cheilitis Renal Fanconi syndrome Dysphasia Bicarbonaturia Hyperammonemia Pancreatitis Choreoathetosis Neutropenia Nausea and vomiting Dense posterior cortical cataract Hypoammonemia Wrist swelling Lentiglobus Abnormality of dentin Elevated maternal serum alpha-fetoprotein Urogenital fistula Odontogenic neoplasm Finger swelling Elevated amniotic fluid alpha-fetoprotein Benign neoplasm of the central nervous system Elevated serum acid phosphatase Abnormality of calcium-phosphate metabolism Chorioretinal dysplasia Oligosacchariduria Vitamin D deficiency Proximal renal tubular acidosis Congenital glaucoma Hypophosphatemia Corneal opacity Recurrent fractures Subcutaneous nodule Abnormality of the metaphysis Osteoarthritis Sparse scalp hair Fine hair Abnormality of the ribs Dehydration Aciduria Full cheeks Delayed eruption of teeth Nephrolithiasis Hematuria Joint hypermobility Long face Joint hyperflexibility Genu valgum Delayed puberty Desquamation of skin soon after birth Congenital cataract Platyspondyly Hip dislocation Hypoplasia of dental enamel Amblyopia Open bite Reduced number of teeth Diabetes insipidus Flat occiput Obsessive-compulsive behavior Chronic otitis media Self-injurious behavior Glomerulonephritis Rickets Abnormality of the voice Hypokalemia Hypercalciuria Hypercholesterolemia Stereotypy Neoplasm of the skin Azoospermia Abnormality of dental enamel Aminoaciduria Narrow palate Nephrocalcinosis Joint contracture of the hand Skin ulcer Clonus Abnormality of epiphysis morphology Sudden episodic apnea Abnormality of the larynx Myocardial necrosis Foam cells in visceral organs and CNS Hyperhidrosis Peripheral neuropathy Immunodeficiency Diarrhea Cardiomyopathy Myopathy Fatal liver failure in infancy Low cholesterol esterification rates Abnormal cholesterol homeostasis Sea-blue histiocytosis Hypertension Congenital thrombocytopenia Fetal ascites Rapid neurologic deterioration Bone-marrow foam cells Supranuclear ophthalmoplegia Cataplexy Vertical supranuclear gaze palsy Visceromegaly Foam cells Polydactyly Poor gross motor coordination Spastic dysarthria Chronic diarrhea Abnormal cortical gyration Neurodevelopmental delay Combined immunodeficiency Loss of consciousness Inflammation of the large intestine Abnormal intestine morphology Hyperbilirubinemia Lymphopenia Hypohidrosis Cholestasis Projectile vomiting Severe lactic acidosis Poor fine motor coordination Hip dysplasia Focal-onset seizure Decreased antibody level in blood Increased serum pyruvate Postaxial polydactyly Hyperalaninemia Decreased activity of the pyruvate dehydrogenase complex Subependymal cysts Aplasia/Hypoplasia of the abdominal wall musculature Supranuclear gaze palsy Impaired T cell function Renal dysplasia Abnormality of the foot Mental deterioration Abnormality of the nervous system Renal cyst Dementia Renal hypoplasia Pachygyria Gait disturbance Tremor Decreased liver function Abnormal pyramidal sign Fasciculations Severe muscular hypotonia CNS hypomyelination Chronic kidney disease Microvesicular hepatic steatosis Tongue fasciculations Failure to thrive in infancy Increased CSF lactate Hypoventilation Paralysis Skin rash Head tremor Psychosis Trismus Loss of speech Neurofibrillary tangles Prolonged neonatal jaundice Athetosis Dysphonia Schizophrenia Clumsiness Intention tremor Intellectual disability, profound Neurological speech impairment Mitral valve prolapse Tetraplegia Sleep disturbance Neurodegeneration Bruising susceptibility Retinal degeneration Abnormality of movement Ophthalmoplegia Abnormality of the cerebral white matter Generalized tonic-clonic seizures Proximal tubulopathy Corpus callosum atrophy Hepatic necrosis Increased sensitivity to ionizing radiation Congenital contracture Ectropion Intracranial hemorrhage Poor suck Purpura Knee flexion contracture Hydrops fetalis Thickened skin Abnormality of the face Depressed nasal ridge Apathy Interphalangeal joint contracture of finger Cardiomegaly Cerebral calcification Underdeveloped nasal alae Premature birth Triangular face High, narrow palate Pulmonary hypoplasia Microtia Pleural effusion Akinesia Dilatation Overlapping fingers Abnormality of the spinal cord Severe hydrops fetalis Generalized hyperkeratosis Everted upper lip vermilion Extramedullary hematopoiesis Pneumothorax Astrocytosis Abnormality of the spleen Congenital nonbullous ichthyosiform erythroderma Nonimmune hydrops fetalis Neonatal respiratory distress Fetal akinesia sequence Chromosome breakage Distal arthrogryposis Congenital ichthyosiform erythroderma Hypokinesia Petechiae Opisthotonus Abnormality of coagulation Thoracic hypoplasia Multiple joint contractures Abnormality of the pinna Proptosis Macrovesicular hepatic steatosis Syndactyly Trigonocephaly Gait ataxia Osteoporosis Rod-cone dystrophy Spastic diplegia Partial agenesis of the corpus callosum Clinodactyly Hypospadias Hernia Difficulty running Broad-based gait Myopia Wide nasal bridge Brachydactyly Delayed speech and language development Lipoma Poor coordination Type II transferrin isoform profile Abnormal T cell morphology Gastrointestinal inflammation Hypothyroidism Tetraparesis Pectus excavatum Spondyloepiphyseal dysplasia Edema Agenesis of corpus callosum Skeletal muscle atrophy Severe global developmental delay Spastic paraplegia Low-set ears Unsteady gait Central hypothyroidism Mild microcephaly Cutaneous syndactyly Dolichocephaly Microretrognathia Progressive microcephaly High myopia Decreased testicular size Febrile seizures Tapered finger Single transverse palmar crease Smooth philtrum Toe syndactyly Hypermetropia Hemiplegia/hemiparesis



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