Intellectual disability, severe, and Decreased fetal movement

Diseases related with Intellectual disability, severe and Decreased fetal movement

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Decreased fetal movement that can help you solving undiagnosed cases.

Top matches:

Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

MDDGB14 is an autosomal recessive congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14 Is also known as muscular dystrophy, congenital, gmppb-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14

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

Other less relevant matches:

Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

HYPOTONIA-CYSTINURIA SYNDROME Is also known as cystinuria with mitochondrial disease|hcs|homozygous 2p16 deletion syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTONIA-CYSTINURIA SYNDROME

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

WOLF-HIRSCHHORN SYNDROME Is also known as distal deletion 4p|distal monosomy 4p|telomeric deletion 4p|4p- syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about WOLF-HIRSCHHORN SYNDROME

Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

PETERS PLUS SYNDROME Is also known as peters anomaly with short-limb dwarfism|krause-kivlin syndrome|krause-van schooneveld-kivlin syndrome|peters anomaly with short limb dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PETERS PLUS SYNDROME

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about CORNELIA DE LANGE SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Decreased fetal movement

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Decreased fetal movement. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Growth delay

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Cataract Strabismus Generalized hypotonia Cryptorchidism Ventriculomegaly Failure to thrive Feeding difficulties in infancy Abnormal facial shape Atrial septal defect Hypertonia Scoliosis Short nose Hypospadias Cleft palate Long philtrum Short stature Epicanthus Dilatation Low-set, posteriorly rotated ears Cerebral cortical atrophy Polyhydramnios Optic atrophy Neonatal hypotonia Talipes equinovarus Hypertelorism Premature birth Dolichocephaly Frontal bossing Hearing impairment Iris coloboma Kyphosis Micromelia Sleep disturbance Small hand Attention deficit hyperactivity disorder Autism High palate Proximal placement of thumb Multicystic kidney dysplasia Short foot Toe syndactyly Abnormality of cardiovascular system morphology Glaucoma Upslanted palpebral fissure Syndactyly Anteverted nares Ventricular septal defect Myopia Aplasia/Hypoplasia of the cerebellum Downturned corners of mouth Edema Hypogonadism Congenital diaphragmatic hernia Delayed speech and language development Abnormal heart morphology Wide nasal bridge Muscle weakness Hyperactivity Hypoplasia of the corpus callosum Polymicrogyria Motor delay Absent speech Cerebellar hypoplasia Feeding difficulties Intellectual disability, moderate

Rare Symptoms - Less than 30% cases

Severe intrauterine growth retardation Downslanted palpebral fissures Abnormality of the gallbladder Intellectual disability, mild Muscular dystrophy Aggressive behavior Short toe Flexion contracture Rhizomelia Severe failure to thrive Brachydactyly Polyphagia Hip dislocation Nasal speech Limb undergrowth Increased body weight Hypertension Long eyelashes Fever Growth hormone deficiency Central hypotonia Delayed skeletal maturation Spasticity Pyloric stenosis Sensorineural hearing impairment Hypoplastic labia majora Abnormality of the urinary system Sacral dimple Short thumb Abnormality of the genital system Abnormal form of the vertebral bodies Split hand Low posterior hairline Sclerocornea Highly arched eyebrow Cleft upper lip Arthrogryposis multiplex congenita Arachnodactyly Clitoral hypoplasia Mesomelic short stature Renal hypoplasia/aplasia Abnormal cardiac septum morphology Abnormality of the kidney Aplasia/Hypoplasia of the corpus callosum Gastroesophageal reflux Proptosis Osteoporosis Agenesis of corpus callosum Recurrent respiratory infections Short neck Vomiting Wide intermamillary distance Narrow forehead Conductive hearing impairment Hydrocephalus Spontaneous abortion Hydronephrosis Insulin resistance Thin vermilion border Precocious puberty Hip dysplasia Hypoplasia of penis Brain atrophy Poor suck Abnormality of the pinna Oligohydramnios Thin upper lip vermilion Talipes Stroke Pain Scrotal hypoplasia Cognitive impairment Respiratory failure Peripheral neuropathy Cutaneous photosensitivity Primary amenorrhea Wide mouth Cerebral atrophy Myopathy Hypopigmentation of the skin Intellectual disability, progressive Cutis marmorata Hypoglycemia Retrognathia Macrotia Behavioral abnormality Posteriorly rotated ears Webbed neck Pectus excavatum Micropenis Hypopigmentation of hair Clinodactyly Choanal atresia Short palm Clinodactyly of the 5th finger Microcornea Adrenal insufficiency Intestinal malrotation Delayed puberty Severe short stature Prominent forehead Truncal obesity Brachycephaly Increased nuchal translucency Diarrhea Microphthalmia Recurrent infections Finger syndactyly Postaxial polydactyly Renal cyst Pulmonary hypoplasia Renal agenesis Polydactyly Autistic behavior Patent ductus arteriosus Constipation Skeletal dysplasia Delayed eruption of teeth Low-set ears Albinism Iris hypopigmentation Hypoventilation Pulmonary embolism Striae distensae Impaired pain sensation Myeloid leukemia Narrow nasal bridge External genital hypoplasia Decreased muscle mass Skeletal muscle hypertrophy Glucose intolerance Overweight Fetal akinesia sequence Inflammation of the large intestine Large hands Emotional lability Radial deviation of finger Hyperinsulinemia Failure to thrive in infancy Infantile muscular hypotonia Sleep apnea Bicuspid aortic valve Abnormality of lipid metabolism Oligomenorrhea Acromicria Erysipelas Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Temperature instability Triangular mouth Disseminated intravascular coagulation Frontal upsweep of hair Acrocyanosis Anteverted ears Peripheral demyelination Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Chromosome breakage Hypoplasia of the fovea Dandy-Walker malformation Gingival overgrowth Cortical dysplasia Radioulnar synostosis Hypocholesterolemia Abnormal localization of kidney Aplasia/Hypoplasia affecting the eye Abnormal renal morphology Gastrointestinal dysmotility Abnormality of the larynx Cholestatic liver disease Generalized hirsutism Widely spaced teeth Atresia of the external auditory canal Bicornuate uterus Breech presentation Advanced eruption of teeth Bifid tongue Overlapping fingers Elbow dislocation Sex reversal Excessive daytime somnolence Tracheal stenosis Microglossia Male pseudohermaphroditism Postaxial foot polydactyly Self-mutilation Upper limb undergrowth Decreased circulating aldosterone level Ureteropelvic junction obstruction Obsessive-compulsive behavior Opsoclonus Thick eyebrow Synophrys Low anterior hairline Neurological speech impairment Joint stiffness Anxiety Renal insufficiency Elevated 7-dehydrocholesterol Abnormality of limbs Bilateral single transverse palmar creases Facial capillary hemangioma Severe photosensitivity Ectopic calcification Alveolar ridge overgrowth Sleep-wake cycle disturbance Septate vagina Hypoplasia of the frontal lobes Periventricular gray matter heterotopia Talipes calcaneovalgus Increased serum testosterone level Hip subluxation Median cleft palate Broad alveolar ridges Gastroschisis Abnormal eyelash morphology Hypoplastic nipples Postaxial hand polydactyly Phthisis bulbi Abnormal dermatoglyphics Hypercholesterolemia Holoprosencephaly Abnormality of dental enamel Hyperbilirubinemia Vesicoureteral reflux Amblyopia Volvulus Dental crowding Curly eyelashes Aganglionic megacolon Prenatal movement abnormality Optic nerve hypoplasia Abnormally low-pitched voice Tetraplegia Recurrent otitis media Spastic tetraplegia Akinesia Renal hypoplasia Intellectual disability, profound Abnormality of the ribs Coarctation of aorta Ambiguous genitalia Eczema Abnormality of the metacarpal bones Reduced number of teeth Oligodactyly Atrioventricular canal defect Blepharitis Abnormal lung lobation Epiphyseal stippling Severe postnatal growth retardation Aplasia/Hypoplasia of the radius Ulnar deviation of finger Increased number of teeth Biparietal narrowing Abnormality of digit Abnormality of the ulna Short 1st metacarpal Hypogonadotrophic hypogonadism Hyponatremia Mesomelia Hyperkalemia 2-3 toe syndactyly Overlapping toe Abnormality of the uterus Metatarsus adductus Abnormality of dental morphology Bifid scrotum Unilateral renal agenesis Hammertoe Clitoral hypertrophy Self-injurious behavior Narrow palpebral fissure Preauricular pit Aortic valve stenosis Percussion myotonia Hypocalcemia Hypergonadotropic hypogonadism Nephrolithiasis Lactic acidosis Facial palsy Acidosis Areflexia Fatigue Ring fibers Obsessive-compulsive trait Tented upper lip vermilion Narcolepsy Excessive daytime sleepiness Frontal balding First degree atrioventricular block Testicular atrophy Atrial flutter Nonimmune hydrops fetalis Facial diplegia Heart block Severe muscular hypotonia Abnormality of mitochondrial metabolism Neurofibrillary tangles Hemangioma Abnormality of the mouth Megalocornea Abnormality of the vertebral column Abnormality of the immune system Abnormal heart valve morphology Disproportionate tall stature Preaxial hand polydactyly Chronic otitis media Abnormality of the thorax Abnormal vertebral morphology Neonatal hypoglycemia Hypodontia Abnormality of movement Abnormality of the foot Short philtrum Microtia Retinopathy High forehead Hernia Ataxia Cystinuria Abnormal EKG Centrally nucleated skeletal muscle fibers Calvarial skull defect Cortical gyral simplification Myopathic facies Congenital muscular dystrophy Poor head control Torticollis Generalized muscle weakness Elevated serum creatine phosphokinase Schizencephaly Abnormal corpus callosum morphology Maternal diabetes Impulsivity Hypoglycosylation of alpha-dystroglycan Lissencephaly Spastic tetraparesis Pachygyria Heterotopia Hemiparesis Tetraparesis Thick lower lip vermilion Sloping forehead Hyperreflexia Prolonged QT interval Generalized limb muscle atrophy Thin ribs Mitral valve prolapse Alzheimer disease Myotonia Cholelithiasis Atrioventricular block Ventricular tachycardia Cardiac arrest Hydrops fetalis Progressive muscle weakness Atrial fibrillation Sensory neuropathy Ileal atresia Tachycardia Unsteady gait Lower limb muscle weakness Mental deterioration Myalgia Dementia Arrhythmia Respiratory distress Dysphagia Skeletal muscle atrophy Aplasia/Hypoplasia of the lungs High anterior hairline Bradycardia Anterior chamber synechiae Diabetes mellitus Hyporeflexia Obesity Abnormality of the dentition Congestive heart failure Neoplasm Microtia, second degree Agenesis of maxillary lateral incisor Bilobate gallbladder Intestinal fistula Narrow mouth Square pelvis bone Facial hypertrichosis Aplasia/hypoplasia of the extremities Conical incisor Short lingual frenulum Hypoplasia of the vagina Birth length less than 3rd percentile Exaggerated cupid's bow Rieger anomaly Weight loss Osteopenia Abnormality of the pulmonary artery Full cheeks Clumsiness Psychosis Type II diabetes mellitus Abnormality of the cardiovascular system Amenorrhea Specific learning disability Febrile seizures Esotropia Gastrointestinal hemorrhage Sepsis Photophobia Tapered finger Infertility Genu valgum Carious teeth Hypermetropia Pruritus Leukemia Respiratory tract infection Apnea Abnormality of the nervous system Limited elbow movement Biliary tract abnormality Short hallux Inguinal hernia Corneal opacity Craniosynostosis Protruding ear Postnatal growth retardation Cleft lip Joint laxity Umbilical hernia Hypothyroidism Pes cavus Macrocephaly Anal atresia Visual impairment Hypoplastic pubic rami Rib segmentation abnormalities Abnormal lip morphology Abnormality of the philtrum Tethered cord Aplasia cutis congenita of scalp Aplasia/Hypoplasia of the nipples Abdominal situs inversus Rib fusion Pulmonic stenosis Smooth philtrum Ureteral duplication Blurred vision Peters anomaly Anterior hypopituitarism Communicating hydrocephalus Retinal coloboma Diastasis recti Stenosis of the external auditory canal Short columella Broad neck Hypoplasia of the uterus Short metatarsal Single transverse palmar crease Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Spina bifida occulta Hemivertebrae Preauricular skin tag Wide anterior fontanel Decreased body weight Short palpebral fissure Short metacarpal Round face Perisylvian polymicrogyria


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Triangular face, related diseases and genetic alterations Frontal bossing and Unsteady gait, related diseases and genetic alterations Motor delay and Hypertonia, related diseases and genetic alterations Myopathy and Dyskinesia, related diseases and genetic alterations High palate and Irritability, related diseases and genetic alterations Intellectual disability, severe and Azoospermia, related diseases and genetic alterations