Intellectual disability, severe, and Microphthalmia

Diseases related with Intellectual disability, severe and Microphthalmia

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


Top matches:

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

High match HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

High match WARBURG MICRO SYNDROME 2; WARBM2


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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB


For a general discussion of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).Cleaver (1990) provided a review of the causes of xeroderma pigmentosum.

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB Is also known as xp, group b|xpbc

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

High match AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME


Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

High match BRESEK SYNDROME


X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

High match JOUBERT SYNDROME 14; JBTS14


Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

High match REFSUM DISEASE


Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

REFSUM DISEASE Is also known as hmsn 4|phytanic-coa hydroxylase deficiency|heredopathia atactica polyneuritiformis|classic refsum disease|hereditary motor and sensory neuropathy type 4|adult refsum disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about REFSUM DISEASE

High match MUSCLE-EYE-BRAIN DISEASE


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Visual impairment Nystagmus Ventriculomegaly Glaucoma Polymicrogyria Optic atrophy Cerebellar cyst Cleft palate Ptosis Coloboma Growth delay Congenital cataract Strabismus Cerebellar hypoplasia Ataxia Congenital muscular dystrophy Retinopathy Seizures Pachygyria Encephalocele Buphthalmos Scoliosis Abnormality of the cerebral white matter Muscular dystrophy Holoprosencephaly Hypoplasia of the corpus callosum Absent speech Intellectual disability, profound Myopia Cerebellar vermis hypoplasia Elevated serum creatine phosphokinase Muscular hypotonia Lissencephaly Dilatation

Rare Symptoms - Less than 30% cases


Hemiplegia/hemiparesis Cryptorchidism Prominent nasal bridge Flexion contracture Pigmentary retinopathy Retinal degeneration Type II lissencephaly Cerebellar dysplasia Low-set ears Severe global developmental delay Severe muscular hypotonia Hypoplasia of the pons Spasticity Abnormality of the eye Aplasia/Hypoplasia of the corpus callosum Ichthyosis Congenital glaucoma Hypoplasia of the brainstem Short stature Hearing impairment Retinal atrophy Myopathy Abnormality of eye movement Neonatal hypotonia Muscle weakness Hypertelorism Abnormal facial shape High myopia Respiratory insufficiency Macrocephaly Anteverted nares Short nose Midface retrusion Aplasia/Hypoplasia of the cerebellum Macrotia Meningocele Intrauterine growth retardation Hypermetropia Optic nerve hypoplasia Abnormality of retinal pigmentation Microcornea Retinal dystrophy Protruding ear Malar flattening Hyperreflexia Hypertonia Sensorineural hearing impairment Renal cyst Highly arched eyebrow Postaxial polydactyly Postaxial hand polydactyly Short philtrum Abnormality of brain morphology Decreased testicular size Renal hypoplasia Aganglionic megacolon Renal dysplasia Hemivertebrae Convex nasal ridge Plagiocephaly Hypoplasia of the bladder Irritability Epicanthus Downslanted palpebral fissures Pneumonia Posteriorly rotated ears Polydactyly High forehead Vesicoureteral reflux Deeply set eye Hypertension Nyctalopia Dandy-Walker malformation EMG abnormality Cognitive impairment Gait disturbance Agenesis of corpus callosum Myoclonus EEG abnormality Pallor Neurological speech impairment Abnormality of movement Everted lower lip vermilion Generalized muscle weakness Opacification of the corneal stroma Miosis Infantile muscular hypotonia Abnormality of the voice Cortical dysplasia Megalocornea Retinal dysplasia Undetectable electroretinogram Decreased light- and dark-adapted electroretinogram amplitude Hypoglycosylation of alpha-dystroglycan Uncontrolled eye movements Hypoplasia of the retina Short nasal bridge Micrognathia Heart block Open mouth Abnormality of metabolism/homeostasis Tented upper lip vermilion Molar tooth sign on MRI Occipital encephalocele Multiple renal cysts Breathing dysregulation Morning glory anomaly Peripheral neuropathy Skeletal muscle atrophy Cardiomyopathy Splenomegaly Renal insufficiency Pes cavus Hammertoe Skeletal dysplasia Developmental regression Abnormal pyramidal sign Abnormality of the foot Dry skin Short metacarpal Nail dysplasia Progressive visual loss Abnormality of epiphysis morphology Anosmia Abnormality of vision Iris coloboma Congenital contracture Hypotrichosis Micropenis Scaphocephaly Single median maxillary incisor Cyclopia Proboscis Small posterior fossa Exencephaly Brachycephaly Muscular hypotonia of the trunk Abnormality of digit Postnatal growth retardation Postnatal microcephaly Low anterior hairline Scrotal hypoplasia Overlapping toe Spastic diplegia Global brain atrophy Hypoplastic labia majora Facial cleft Absent thumb Undetectable visual evoked potentials Abnormality of the skeletal system Respiratory failure Corneal opacity Cerebral calcification Leukodystrophy Poor head control Agyria High palate Depressed nasal bridge Upslanted palpebral fissure Trigonocephaly Broad forehead Synophrys Astigmatism Oral cleft Narrow forehead Hypotelorism Exotropia Deep philtrum Asymmetry of the ears Cerebellar atrophy Alopecia Lymphedema Moderate myopia Wide nasal bridge Cerebral atrophy Cerebral cortical atrophy Abnormality of skin pigmentation Retinal detachment Sloping forehead Optic disc pallor Pointed chin Peters anomaly Cone/cone-rod dystrophy Abnormality of neuronal migration Cortical gyral simplification Biparietal narrowing Abnormal eyelash morphology Vitreoretinopathy Retinal fold Chorioretinal dysplasia Persistent pupillary membrane Abnormality of the periventricular white matter Severe short stature Progeroid facial appearance Hypogonadism Abnormality of the cardiovascular system Cutaneous photosensitivity Dermal atrophy Decreased nerve conduction velocity Basal cell carcinoma Freckling Basal ganglia calcification Squamous cell carcinoma of the skin Spinal rigidity Cutaneous melanoma Abnormal CNS myelination Increased cellular sensitivity to UV light Cleft lip Cleft upper lip Macroglossia Heterotopia Skeletal muscle hypertrophy Enlarged flash visual evoked potentials



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Ectodermal dysplasia, related diseases and genetic alterations Motor delay and Tapered finger, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more