Intellectual disability, and Microtia
Diseases related with Intellectual disability and Microtia
In the following list you will find some of the most common rare diseases related to Intellectual disability and Microtia that can help you solving undiagnosed cases.
Top matches:
Medium match MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6
- Intellectual disability
- Seizures
- Microcephaly
- Hypertelorism
- Strabismus
More info about MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6
Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Abnormal facial shape
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51
Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY; IDDMSSD
- Intellectual disability
- Seizures
- Generalized hypotonia
- Failure to thrive
- Strabismus
More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY; IDDMSSD
Other less relevant matches:
Medium match MICROCEPHALIC PRIMORDIAL DWARFISM, DAUBER TYPE
Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
SOURCES: ORPHANET OMIM MENDELIAN
More info about MICROCEPHALIC PRIMORDIAL DWARFISM, DAUBER TYPE
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Micrognathia
More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15
Medium match MEIER-GORLIN SYNDROME 4; MGORS4
- Intellectual disability
- Short stature
- Microcephaly
- Scoliosis
- Failure to thrive
More info about MEIER-GORLIN SYNDROME 4; MGORS4
Medium match COG1-CDG
COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.
COG1-CDG Is also known as congenital disorder of glycosylation type iig|cdgii/cog1 cerebrocostomandibular-like syndrome|cdg iig|cdg2g|cdg-iig|congenital disorder of glycosylation type 2g|cdgiig|carbohydrate deficient glycoprotein syndrome type iig|cdg syndrome type iig
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about COG1-CDGMedium match CHANARIN-DORFMAN SYNDROME; CDS
CHANARIN-DORFMAN SYNDROME; CDS Is also known as neutral lipid storage disease with ichthyosis|dcs|nlsdi|triglyceride storage disease with impaired long-chain fatty acid oxidation|dorfman-chanarin syndrome|chanarin-dorfman disease|ichthyosiform erythroderma with leukocyte vacuolation|ichthyotic neutral
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Ataxia
SOURCES: OMIM ORPHANET MENDELIAN
More info about CHANARIN-DORFMAN SYNDROME; CDSMedium match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF
cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLFMedium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES; IDDFBA
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES; IDDFBA
Top 5 symptoms//phenotypes associated to Intellectual disability and Microtia
| Symptoms // Phenotype | % cases |
|---|---|
| Global developmental delay | Common - Between 50% and 80% cases |
| Seizures | Common - Between 50% and 80% cases |
| Short stature | Common - Between 50% and 80% cases |
| Microcephaly | Uncommon - Between 30% and 50% cases |
| Generalized hypotonia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms
Patients with Intellectual disability and Microtia. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Posteriorly rotated ears Failure to thrive Feeding difficulties Strabismus Narrow mouth Downslanted palpebral fissures Abnormal facial shape Hypertelorism Low-set ears Epicanthus Micrognathia Intrauterine growth retardation Growth delayRare Symptoms - Less than 30% cases
Hyperactivity Long face Everted lower lip vermilion Hearing impairment Clinodactyly Delayed skeletal maturation Anemia Macrocytic anemia Sensorineural hearing impairment Postnatal growth retardation Deeply set eye Muscular hypotonia Long philtrum Intellectual disability, severe Intellectual disability, moderate Cryptorchidism Delayed speech and language development Thin upper lip vermilion Frontal bossing Ataxia Absent speech Macrocephaly High palate Cataract Subcapsular cataract Areflexia Feeding difficulties in infancy Enlarged cisterna magna Butterfly vertebrae Abnormal isoelectric focusing of serum transferrin Arthritis Acidosis Abnormal heart morphology Thrombocytopenia Hepatomegaly Generalized ichthyosis Decreased plasma carnitine Congenital nonbullous ichthyosiform erythroderma Abnormality of blood and blood-forming tissues Hepatic steatosis Congenital ichthyosiform erythroderma Alopecia Skin rash Erythroderma Myopathy Hepatosplenomegaly Ptosis Nystagmus Muscular dystrophy Ichthyosis Ectropion Scaling skin Aortic regurgitation Muscle weakness Developmental regression Stomatitis Small for gestational age Short foot Encephalopathy Upslanted palpebral fissure High forehead Pes planus Hypermetropia Downturned corners of mouth Thick vermilion border Small hand Tapered finger Abnormality of the skeletal system Epileptic encephalopathy Long eyelashes Sandal gap Plagiocephaly Tented upper lip vermilion Delayed ability to walk High anterior hairline Short attention span Hypospadias Cystathioninemia Lethargy Juvenile rheumatoid arthritis Neutropenia Aciduria Abnormality of the skin Pancytopenia Psychosis Incoordination Rheumatoid arthritis Megaloblastic anemia Vertebral segmentation defect Cystathioninuria Methylmalonic aciduria Homocystinuria Methylmalonic acidemia Glossitis Hyperhomocystinemia Decreased methylcobalamin Megaloblastic bone marrow Decreased adenosylcobalamin Decreased methionine synthase activity Pierre-Robin sequence Patellar aplasia Failure to thrive in infancy Severe global developmental delay Delayed myelination Focal-onset seizure Delayed gross motor development Postnatal macrocephaly Obesity Severe short stature Hypothyroidism Prominent nose Poor speech Hip dysplasia Amenorrhea Hypotelorism Primary amenorrhea Hypoplasia of the uterus Central hypothyroidism Madelung deformity Generalized myoclonic seizures Neurological speech impairment Lumbar scoliosis Proptosis Joint stiffness Bifid nasal tip Small cerebral cortex Motor delay Ventriculomegaly Immunodeficiency Autism Autistic behavior Broad forehead Abnormality of the foot Facial asymmetry Febrile seizures Tall stature Cognitive impairment Tremor Gastroesophageal reflux Hyperlordosis Abnormality of the carpal bones Cleft palate Coxa valga Wide nasal bridge Genu recurvatum Hypoplastic labia majora Labial hypoplasia Breast hypoplasia Lateral clavicle hook Birth length less than 3rd percentile Hypertension Talipes equinovarus Slender long bone Short neck Kyphoscoliosis Osteopenia Low-set, posteriorly rotated ears Smooth philtrum Rhizomelia Progressive microcephaly Thoracic scoliosis Emphysema Respiratory distress Sparse eyebrow Malar flattening Midface retrusion Hernia Bifid uvula Webbed neck Congenital diaphragmatic hernia Sparse and thin eyebrow Mixed hearing impairment Thick lower lip vermilion Submucous cleft hard palate Severe sensorineural hearing impairment Broad neck Granulocytopenia Mandibulofacial dysostosis Scoliosis Patent ductus arteriosus Hypoplasia of the maxilla Tented philtrumIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Hypogonadism, related diseases and genetic alterations Neuroblastoma and Ectodermal dysplasia, related diseases and genetic alterations Optic atrophy and Hepatosplenomegaly, related diseases and genetic alterations Hyperreflexia and Dental crowding, related diseases and genetic alterations High palate and Narrow forehead, related diseases and genetic alterations Micrognathia and Ventriculomegaly, related diseases and genetic alterations