Intellectual disability, severe, and Micropenis

Diseases related with Intellectual disability, severe and Micropenis

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Strabismus
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION

Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.

OROFACIODIGITAL SYNDROME TYPE 14 Is also known as oral-facial-digital syndrome type 14|ofd14|microcephaly-cerebral malformation-orofaciodigital syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormal facial shape
  • Cleft palate
  • Hypoplasia of the corpus callosum


SOURCES: OMIM ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 14

WARBURG MICRO SYNDROME 2; WARBM2 Is also known as micro syndrome 2

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cataract
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 2; WARBM2

Other less relevant matches:

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.

PERIVENTRICULAR NODULAR HETEROTOPIA Is also known as heterotopia, periventricular, ehlers-danlos variant|periventricular nodular heterotopia 4, formerly|heterotopia, familial nodular|heterotopia, periventricular, x-linked dominant|pvnh4, formerly|nhbp|nodular heterotopia, bilateral periventricular|bpnh

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA

High match WEST SYNDROME

West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome|infantile spasm syndrome, x-linked 1|xmesid|west syndrome, x-linked|ohtahara syndrome, x-linked|infantile spasms|infantile epileptic-dyskinetic encephalopathy|issx1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEST SYNDROME

MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).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, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Micropenis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Hypoplasia of the corpus callosum Hypertelorism Cerebellar hypoplasia Global brain atrophy Retinopathy Lissencephaly Absent speech Seizures Sensorineural hearing impairment Hyporeflexia Ataxia Cognitive impairment Short stature

Rare Symptoms - Less than 30% cases

Muscular hypotonia of the trunk Heterotopia Flexion contracture Cataract Dilatation Delayed speech and language development Hearing impairment Small hand Generalized hypotonia Encephalopathy Brain atrophy Postaxial polydactyly Molar tooth sign on MRI Ventriculomegaly Spasticity Hyperreflexia Myopia Wide nasal bridge Epicanthus Low-set ears Hypertonia Agenesis of corpus callosum Polydactyly Cortical dysplasia Telecanthus Coarse facial features Generalized-onset seizure Focal-onset seizure Intestinal malrotation Mitral regurgitation Bicuspid aortic valve Patent foramen ovale Aortic regurgitation Nephrotic syndrome Aortic aneurysm Myocardial infarction Joint hypermobility Confusion Telangiectasia of the skin Stroke Thick lower lip vermilion Intellectual disability, moderate Wide mouth Blepharophimosis Stage 5 chronic kidney disease Everted lower lip vermilion Dental malocclusion Wide intermamillary distance Hypoplasia of penis Pancytopenia Renal hypoplasia Renal dysplasia Skeletal dysplasia Telangiectasia Abnormal dermatoglyphics Bifid scrotum Congenital sensorineural hearing impairment Hypoplastic nipples Aplasia/Hypoplasia of the nipples Chordee Intellectual disability, mild Syndactyly Recurrent infections Patent ductus arteriosus Abnormality of the coagulation cascade Myoclonus Abnormality of neuronal migration Hyperlordosis Muscle weakness Motor delay Respiratory insufficiency Myopathy Areflexia Abnormal heart morphology Elevated serum creatine phosphokinase Cerebral cortical atrophy Respiratory failure Neonatal hypotonia Proximal muscle weakness Facial palsy Hip dislocation Abnormality of skin morphology Muscular dystrophy Abnormality of the cerebral white matter Generalized muscle weakness Macroglossia Pigmentary retinopathy Ventricular hypertrophy Cerebellar vermis hypoplasia Open mouth Left ventricular hypertrophy Congenital muscular dystrophy Skeletal muscle hypertrophy Calf muscle hypertrophy Abnormality of the periventricular white matter Scoliosis Spastic ataxia Emphysema Dyskinesia Shawl scrotum Enlarged cisterna magna Widow's peak Dyslexia Congenital nephrotic syndrome Subependymal nodules Dysphagia Dystonia Umbilical hernia Dyspnea Abnormality of the nervous system Developmental regression Poor speech Generalized myoclonic seizures Developmental stagnation Chorea Epileptic encephalopathy Hypsarrhythmia Intellectual disability, profound Status epilepticus Tetraparesis Choreoathetosis Progressive microcephaly Spastic tetraparesis Hyperkinesis Infantile spasms Muscle fibrillation Epileptic spasms Proteinuria Intention tremor Hypothyroidism Scrotal hypoplasia Brachycephaly Macrotia Postnatal growth retardation Prominent nasal bridge Severe global developmental delay Congenital cataract Polymicrogyria Microcornea Postnatal microcephaly Low anterior hairline Overlapping toe Short nose Spastic diplegia Hypoplastic labia majora Asymmetry of the ears Undetectable visual evoked potentials Macrocephaly Hypospadias Inguinal hernia Retinal dystrophy Dandy-Walker malformation Postaxial hand polydactyly Microphthalmia Optic atrophy Ambiguous genitalia Short femur Delayed skeletal maturation Narrow mouth Thin vermilion border Hypoplasia of the radius Hypoplasia of the ulna Absent thumb Oligodactyly Fibular hypoplasia Aplasia/Hypoplasia of the radius Short tibia Patellar hypoplasia Aplasia of the epiglottis Supernumerary ribs Bilateral ulnar hypoplasia Cleft palate Upslanted palpebral fissure Microretrognathia Trigonocephaly Hamartoma Increased number of teeth Bifid tongue Lobulated tongue Hamartoma of tongue Sloping forehead Congenital diaphragmatic hernia Hernia Short foot Dysarthria Tremor Cerebellar atrophy Kyphosis Gait ataxia Abnormal pyramidal sign Dysmetria Short palm Hirsutism Inability to walk Truncal ataxia Esodeviation Intellectual disability, progressive Dysdiadochokinesis Thoracic scoliosis Thoracic kyphosis Abnormality of the neck Atrophy of the dentate nucleus Aplasia of the inferior half of the cerebellar vermis Micrognathia Abnormality of the dentition Renal insufficiency Malar flattening Flexion contracture of thumb Oxycephaly Apraxia Short neck Tall stature Wide anterior fontanel Oculomotor apraxia Aplasia/Hypoplasia of the corpus callosum Triphalangeal thumb Aplasia/Hypoplasia of the cerebellum Prominent occiput Nephronophthisis Abnormality of the clavicle Nystagmus Hydrocephalus Visceromegaly Babinski sign Retrognathia Joint stiffness Spastic paraplegia Holoprosencephaly Increased intracranial pressure Adducted thumb Bilateral cryptorchidism Hemiplegia/hemiparesis Absent septum pellucidum Aqueductal stenosis Left ventricular systolic dysfunction


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