Generalized hypotonia, and Type II diabetes mellitus

Diseases related with Generalized hypotonia and Type II diabetes mellitus

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Type II diabetes mellitus that can help you solving undiagnosed cases.


Top matches:

High match HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D


Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) D is an autosomal recessive disorder characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported (Thony et al., 1998). Patients may also develop hypomagnesemia and nonautoimmune diabetes mellitus during puberty (summary by Ferre et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of BH4-deficient hyperphenylalaninemia, see HPABH4A (OMIM ).

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D Is also known as hyperphenylalaninemia with primapterinuria|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency|pcbd deficiency|cadh deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Motor delay
  • Tremor
  • Hypertonia


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D

High match MYOPATHY AND DIABETES MELLITUS


MYOPATHY AND DIABETES MELLITUS Is also known as mitochondrial myopathy, lipid type

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYOPATHY AND DIABETES MELLITUS

High match SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME


Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME Is also known as soft syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME

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Other less relevant matches:

High match GLYCOGEN STORAGE DISEASE II; GSD2


Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

High match MULIBREY NANISM


MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

High match GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE


Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE Is also known as igf-i resistance|resistance to igf-1|somatomedin, end-organ insensitivity to|somatomedin-c, resistance to

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

High match DOWN SYNDROME


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

High match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II


'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II Is also known as majewski osteodysplastic primordial dwarfism type ii|osteodysplastic primordial dwarfism, type ii|mopd ii|mopd type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II

High match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

High match PRADER-WILLI SYNDROME; PWS


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

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Type II diabetes mellitus

Symptoms // Phenotype % cases
Muscular hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
Diabetes mellitus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Generalized hypotonia and Type II diabetes mellitus. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Abnormality of the dentition Strabismus Depressed nasal bridge Cognitive impairment High pitched voice Scoliosis Upslanted palpebral fissure Obesity Abnormal facial shape Severe short stature Failure to thrive Osteopenia Intrauterine growth retardation Recurrent respiratory infections Ventriculomegaly Myopathy Small for gestational age Stroke Nasal speech Dolichocephaly Short distal phalanx of finger Microtia Downturned corners of mouth Small hand Neoplasm Triangular face Truncal obesity Short palm Postnatal growth retardation High palate Narrow mouth Feeding difficulties Wide nasal bridge Epicanthus Pain Gait disturbance Congestive heart failure Hearing impairment Seizures Epidermal acanthosis Micrognathia Hepatomegaly Delayed speech and language development Malar flattening Edema Hypoplasia of the corpus callosum Dilatation Delayed skeletal maturation Acanthosis nigricans Macroglossia Retrognathia Hypermetropia Microcephaly Hypertelorism Low-set ears Brachydactyly Intellectual disability, mild Muscle weakness Macrocephaly Short nose Dysarthria Myopia Hip dysplasia Clinodactyly Prominent forehead

Rare Symptoms - Less than 30% cases


Full cheeks Behavioral abnormality Intellectual disability, severe Delayed puberty Hypoplastic iliac wing Talipes equinovarus Nystagmus Broad forehead Abnormality of the nervous system Sensorineural hearing impairment Hepatosplenomegaly Hypogonadism Abnormality of the cardiovascular system Peripheral demyelination Delayed myelination Depressivity Abnormality of the skeletal system Narrow palpebral fissure Vomiting Impaired pain sensation Dilatation of the cerebral artery Frontal bossing Skeletal dysplasia Attention deficit hyperactivity disorder Kyphosis Insulin resistance Respiratory tract infection Short foot Anemia Cataract Short neck Hydrocephalus Severe intrauterine growth retardation Multiple cafe-au-lait spots Recurrent infections Clinodactyly of the 5th finger Psychosis Radial deviation of finger Sandal gap Cafe-au-lait spot Sparse scalp hair Highly arched eyebrow Infertility Anxiety Thin upper lip vermilion Umbilical hernia Joint laxity Leukemia Microdontia Depressed nasal ridge Slender long bone Genu valgum Increased body weight Hypertension Narrow palate Precocious puberty Decreased antibody level in blood Abnormality of the rib cage Growth hormone deficiency Pointed chin Clitoral hypoplasia Ataxia Cone-shaped epiphysis Difficulty walking Fatigue Respiratory failure Areflexia Hyporeflexia Headache Prominent nose Splenomegaly Cardiomyopathy Elevated serum creatine phosphokinase Dental crowding Skeletal muscle atrophy Widely spaced teeth Fever Gingival overgrowth Proximal muscle weakness Myalgia Hypoglycemia Deeply set eye High forehead Mandibular prognathia Broad nasal tip Long philtrum Midface retrusion Developmental regression Hypertonia Disproportionate short stature Conductive hearing impairment Overweight Limb muscle weakness Progressive muscle weakness Carious teeth Mental deterioration Erysipelas Arthritis Coarse facial features Frontal upsweep of hair Temperature instability Disseminated intravascular coagulation Abnormality of the foot Pectus carinatum Triangular mouth Abnormality of the cerebral white matter Dysmetria Neurological speech impairment Corneal opacity Spontaneous abortion Progressive cerebellar ataxia Anteverted ears Pancytopenia Limb ataxia Amblyopia Chromosome breakage Ocular albinism Hypothermia Tall stature Bowing of the long bones Progressive neurologic deterioration Hypertrichosis Generalized hypopigmentation Optic disc pallor Confusion Cor pulmonale Otitis media Abdominal obesity Poor fine motor coordination Dental malocclusion Gliosis Macrotia Neurodegeneration Thick eyebrow Retinal degeneration Kyphoscoliosis Hypoplastic labia minora Gait ataxia Short 1st metacarpal Narrow pelvis bone Narrow palm Abnormality of female external genitalia Hypopnea Shortening of all distal phalanges of the fingers Ulnar bowing Long clavicles Arterial stenosis Aplasia/Hypoplasia of the earlobes Almond-shaped palpebral fissure Abnormality of the cerebral vasculature Hypoplastic scapulae Psychotic episodes Tracheal stenosis Increased intraocular pressure Radial bowing Severe postnatal growth retardation Proportionate short stature Tibial bowing Limited elbow extension Aplasia/Hypoplasia of the eyebrow Poor gross motor coordination Flared metaphysis Short middle phalanx of finger Large sella turcica Pseudoepiphyses Babinski sign Rootless teeth Inguinal hernia Hernia Cerebral atrophy Immunodeficiency Central adrenal insufficiency Cerebellar atrophy Spastic gait Optic atrophy Hyperreflexia Spasticity Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines Alveolar process hypoplasia Forearm undergrowth Overtubulated long bones Generalized microdontia Straight clavicles Ivory epiphyses Projectile vomiting High iliac wings Proximal femoral epiphysiolysis Moyamoya phenomenon Thin clavicles Distal symphalangism Pseudoepiphyses of the metacarpals Hallucinations Acrocyanosis Low anterior hairline Osteoporosis Poor suck Failure to thrive in infancy Hyperinsulinemia Emotional lability Large hands Inflammation of the large intestine Weight loss Micropenis Glucose intolerance Albinism Hyperactivity Syndactyly Autism Cryptorchidism Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Skeletal muscle hypertrophy Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Adrenal insufficiency Decreased muscle mass External genital hypoplasia Polyphagia Infantile muscular hypotonia Photophobia Abnormality of joint mobility Specific learning disability Bicuspid aortic valve Aortic valve stenosis Sleep apnea Bradycardia Clumsiness Primary amenorrhea Cutaneous photosensitivity Decreased fetal movement Oligohydramnios Narrow forehead Amenorrhea Febrile seizures Neonatal hypotonia Scrotal hypoplasia Esotropia Gastrointestinal hemorrhage Sepsis Hypopigmentation of the skin Sleep disturbance Tapered finger Polymicrogyria Arachnodactyly Pruritus Abnormality of the pinna Apnea Antineutrophil antibody positivity Abnormality of the ilium Recurrent bacterial infections Abnormality of the sternum Iris hypopigmentation Impaired smooth pursuit Delusions Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Abnormality of lipid metabolism Limb dystonia Central hypotonia Bronchitis Thickened calvaria Femoral bowing Hydrocele testis Neurodevelopmental delay Oligomenorrhea Bowel incontinence Open bite Bowing of the legs Hypogonadotrophic hypogonadism Flat occiput Heart murmur Chronic otitis media Hypoplasia of the fovea Prominent supraorbital ridges Increased intracranial pressure Dysostosis multiplex Reduced ejection fraction Hypoplastic inferior ilia Cranial hyperostosis Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Vacuolated lymphocytes Abnormality of the helix Thoracolumbar kyphosis Abnormal echocardiogram Narrow nasal bridge Myeloid leukemia Synovitis Striae distensae Abnormal cornea morphology Pulmonary embolism Hypopigmentation of hair Hypoventilation Craniofacial hyperostosis Spondylolisthesis Abnormality of dental morphology Open mouth Reduced number of teeth Stroke-like episode Astigmatism Retinopathy Intellectual disability, moderate Firm muscles Abnormal CNS myelination Shortened PR interval Abdominal wall muscle weakness Increased muscle fatiguability Diaphragmatic paralysis Pelvic girdle muscle weakness Wolff-Parkinson-White syndrome Hypodontia Progressive proximal muscle weakness Difficulty running Exertional dyspnea Dysphasia Emphysema Atrioventricular block Delayed gross motor development Respiratory insufficiency due to muscle weakness Atherosclerosis Macular degeneration Scapular winging Cirrhosis Ascites Aspiration Microglossia Ventricular septal defect Pericardial constriction Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Myocardial fibrosis Scaphocephaly Abdominal distention Insulin-resistant diabetes mellitus Pericarditis Pulmonary fibrosis Nephroblastoma Premature ovarian insufficiency Cachexia Reduced tendon reflexes Pigmentary retinopathy Overgrowth Cyanosis Nevus EMG abnormality Ventricular hypertrophy Muscular hypotonia of the trunk Proximal amyotrophy Waddling gait Short metacarpal Long face Severe global developmental delay Sparse hair Wide mouth Posteriorly rotated ears Anteverted nares Weakness of orbicularis oculi muscle Decreased activity of mitochondrial complex IV Peripheral arterial stenosis Mitochondrial myopathy Small nail EMG: myopathic abnormalities Ragged-red muscle fibers Exercise intolerance Type I diabetes mellitus Sensory neuropathy Facial palsy Peripheral neuropathy Transient hyperphenylalaninemia Hyperphenylalaninemia Hypomagnesemia Tremor Nail dysplasia Azoospermia Cardiomegaly Respiratory insufficiency Urinary incontinence Generalized muscle weakness Muscular dystrophy Paralysis Hypertrophic cardiomyopathy EEG abnormality Gastroesophageal reflux Acidosis Dyspnea Arrhythmia Abnormality of metabolism/homeostasis Dysphagia Relative macrocephaly Ptosis Hypoplastic sacrum Frontal balding Breast hypoplasia Hypoplastic pelvis Oligospermia Low hanging columella Short finger Agenesis of permanent teeth Short femoral neck Short metatarsal Pectus excavatum Synophrys Laryngomalacia Hypoxemia Atlantoaxial instability Neutrophilia Abnormality of the fontanelles or cranial sutures Shallow acetabular fossae Duodenal stenosis Abnormality of the lymphatic system Myeloproliferative disorder Short middle phalanx of the 5th finger Complete atrioventricular canal defect Pulmonary edema Acute monocytic leukemia Transient myeloproliferative syndrome Senile plaques Double outlet right ventricle Thickened nuchal skin fold Acute lymphoblastic leukemia Thrombocytosis Protruding tongue Polycythemia Neurofibrillary tangles Congenital hypothyroidism Abnormality of immune system physiology Abnormality of blood and blood-forming tissues Crackles Brushfield spots Transposition of the great arteries Underdeveloped nasal alae Hypopigmented skin patches Coxa vara Coxa valga Abnormality of epiphysis morphology Hypoplasia of dental enamel Abnormality of the metaphysis Hemiparesis Fine hair Sloping forehead Limb undergrowth Convex nasal ridge Abnormality of skin pigmentation Round ear Dry skin Micromelia Joint hyperflexibility Narrow chest Prominent nasal bridge Patent ductus arteriosus Hypospadias Atrial septal defect Downslanted palpebral fissures Acute megakaryocytic leukemia Left-to-right shunt Prematurely aged appearance Broad palm Smooth philtrum Patent foramen ovale Rieger anomaly Broad finger Esodeviation Perimembranous ventricular septal defect Small face Maternal diabetes Severe failure to thrive Reduced subcutaneous adipose tissue Delayed cranial suture closure Agitation Lipodystrophy Pterygium Hypoplastic facial bones Accelerated skeletal maturation Finger clinodactyly Decreased body weight Blue sclerae Wide intermamillary distance Webbed neck Lymphoma Delayed eruption of teeth Everted lower lip vermilion Inability to walk Thin vermilion border Prominent scalp veins Burkitt lymphoma Atrioventricular canal defect Single transverse palmar crease Decreased fertility Hydroureter Alzheimer disease Cholelithiasis Breast carcinoma Renal hypoplasia/aplasia Bilateral single transverse palmar creases Aganglionic megacolon Thick lower lip vermilion Postural instability Neutropenia Postaxial polydactyly Increased serum insulin-like growth factor 1 Flat face Anal atresia Hypotrichosis Hydronephrosis Hypothyroidism Polydactyly Brachycephaly Dementia Abnormal heart morphology Thrombocytopenia Abnormality of cardiovascular system morphology Acromicria



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