Cognitive impairment, and Encephalocele

Diseases related with Cognitive impairment and Encephalocele

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Encephalocele that can help you solving undiagnosed cases.


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Low match COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT


Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). 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 Buysse et al., 2013).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, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

Low 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

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Low match THANATOPHORIC DYSPLASIA TYPE 2


Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

Low match JOUBERT SYNDROME WITH RENAL DEFECT


Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.

JOUBERT SYNDROME WITH RENAL DEFECT Is also known as js-r

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH RENAL DEFECT

Low match GRISCELLI SYNDROME, TYPE 2; GS2


GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

Low match JOUBERT SYNDROME 1; JBTS1


Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

JOUBERT SYNDROME 1; JBTS1 Is also known as cerebelloparenchymal disorder iv|jbts|cpd4|joubert syndrome|cerebellooculorenal syndrome 1|cors1|joubert-boltshauser syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 1; JBTS1

Low match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Low match ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Low match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Top 5 symptoms//phenotypes associated to Cognitive impairment and Encephalocele

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Hydrocephalus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Encephalocele. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Occipital encephalocele Cerebellar hypoplasia Polymicrogyria Strabismus Cataract Ataxia Hypoplasia of the brainstem Ventriculomegaly Cortical dysplasia Hypoplasia of the corpus callosum Nystagmus Retinal dysplasia Abnormality of the kidney Patent ductus arteriosus Prominent nasal bridge Lissencephaly Heterotopia Gait disturbance Spasticity Agenesis of corpus callosum Macrocephaly Pachygyria Hypertonia Muscular dystrophy Type II lissencephaly

Rare Symptoms - Less than 30% cases


Aplasia cutis congenita of scalp Aplasia cutis congenita Calvarial skull defect Depressed nasal bridge Joint hyperflexibility Brachydactyly Ptosis Short stature Meningocele Holoprosencephaly High myopia Retinal degeneration Abnormality of movement Congenital cataract Cleft palate Abnormality of eye movement Motor delay Leukemia Abnormal facial shape Epicanthus Pyloric stenosis Leukopenia Ascites Thrombocytopenia Alopecia Elongated superior cerebellar peduncle Abnormal pattern of respiration Breathing dysregulation Molar tooth sign on MRI Tremor Oculomotor apraxia Cerebellar vermis hypoplasia Apraxia Highly arched eyebrow Retinal dystrophy Long face EEG abnormality Apnea Abnormality of the eye Abnormality of cardiovascular system morphology Anteverted nares Coloboma Atrial septal defect Glaucoma Myopia Abnormality of the cerebral white matter Abnormal cerebellum morphology Microcephaly Micrognathia Progressive neurologic deterioration Severe global developmental delay Visual impairment Mental deterioration Congenital muscular dystrophy Porencephalic cyst Severe muscular hypotonia Absent septum pellucidum Renal cyst Hearing impairment Opacification of the corneal stroma Blindness Elevated serum creatine phosphokinase Optic atrophy Dilatation Midface retrusion Dandy-Walker malformation Microphthalmia Narrow face Cutis marmorata telangiectatica congenita Nyctalopia Periventricular cysts Retrognathia Imperforate hymen Acrania Visual loss Absent toe Vesicoureteral reflux Bulbous nose Retinal detachment Chylothorax Abnormal pulmonary valve morphology Progressive visual loss Venous malformation Absent fingernail Cerebellar atrophy Absent hand Thin skin Periventricular leukomalacia Abnormality of the hair Aplastic/hypoplastic toenail Cerebral atrophy Brainstem dysplasia Triangular-shaped open mouth Abnormality of the foot Open mouth Narrow forehead Postaxial hand polydactyly Macroglossia Downturned corners of mouth Abnormality of skin pigmentation Telecanthus Tachypnea Aggressive behavior Mandibular prognathia Polydactyly Hyperactivity Prominent forehead Absent speech Low-set ears Hepatic fibrosis Chorioretinal coloboma Occipital myelomeningocele Abnormality of ocular smooth pursuit Hemifacial spasm Enlarged fossa interpeduncularis Neonatal breathing dysregulation Congenital hepatic fibrosis Dysgenesis of the cerebellar vermis Episodic tachypnea Meningoencephalocele Protruding tongue Abnormal saccadic eye movements Aplasia cutis congenita over posterior parietal area Agenesis of cerebellar vermis Central apnea Optic nerve coloboma Impaired smooth pursuit Self-mutilation Horizontal nystagmus Pulmonary artery atresia Macular degeneration Cleft upper lip Nail dysplasia Esotropia Gastrointestinal hemorrhage Premature birth Short distal phalanx of finger Cirrhosis Talipes Coarctation of aorta Toe syndactyly Pulmonic stenosis Finger syndactyly Double outlet right ventricle Abnormal cardiac septum morphology Sparse hair Tetralogy of Fallot Pulmonary arterial hypertension Osteopenia Central hypotonia Aplasia/Hypoplasia of the skin Hypoplastic left heart Supernumerary nipple Oligodactyly Cutis marmorata Portal hypertension Abnormality of the metacarpal bones Small nail Pulmonary artery stenosis Bicuspid aortic valve Meningitis Aortic valve stenosis Telangiectasia Split hand Hemiparesis Melanin pigment aggregation in hair shafts Arteriovenous malformation Esophageal varix Vitreoretinopathy Band keratopathy Lens luxation Macular hypoplasia Total anomalous pulmonary venous return Anomalous pulmonary venous return Large forehead Acute lymphoblastic leukemia Phthisis bulbi Chorioretinal atrophy Dextrocardia Ectopia lentis Cutaneous finger syndactyly Abnormality of the upper limb Corneal dystrophy Lymphangioma Abnormal vitreous humor morphology Abnormal heart morphology Hypoplastic fingernail Syndactyly Talipes equinovarus Ventricular septal defect Abnormality of the lower limb Abnormality of the skeletal system Intrauterine growth retardation Hypertension Cerebellar malformation Failure to thrive Growth delay Cephalocele Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Accumulation of melanosomes in melanocytes Hepatomegaly Silver-gray hair Buphthalmos Hypoplasia of the retina Uncontrolled eye movements Hypoglycosylation of alpha-dystroglycan Cerebellar cyst Cerebellar dysplasia Decreased light- and dark-adapted electroretinogram amplitude Undetectable electroretinogram Enlarged flash visual evoked potentials Hypoplasia of the pons Megalocornea Retinal atrophy Congenital glaucoma Hemiplegia/hemiparesis Aplasia/Hypoplasia of the cerebellum Short nasal bridge Frontal bossing Optic nerve hypoplasia Micromelia Acanthosis nigricans Short ribs Abnormality of the metaphysis Decreased fetal movement Limitation of joint mobility Flat face Narrow chest Respiratory insufficiency Platyspondyly Skeletal dysplasia Polyhydramnios Proptosis Severe short stature Kyphosis Abnormality of the voice Infantile muscular hypotonia Redundant skin Leukoencephalopathy Micropenis Cryptorchidism Right hemiplegia Gray matter heterotopias Infantile spasms Hemiplegia Absence seizures Decreased testicular size Spastic tetraplegia Tetraplegia Coma Neurodegeneration Paraplegia Spastic paraplegia Hydronephrosis Renal dysplasia Aplasia/Hypoplasia of the corpus callosum Neonatal hypotonia EMG abnormality Intellectual disability, profound Generalized muscle weakness Everted lower lip vermilion Neurological speech impairment Pallor Myoclonus Anencephaly Malar flattening Myopathy Intellectual disability, severe Muscle weakness Optic nerve dysplasia Renal cortical cysts Disproportionate short-limb short stature Metaphyseal irregularity Cutaneous anergy Decreased antibody level in blood Hyperlipidemia Recurrent bacterial infections Bone marrow hypocellularity Pancytopenia Hepatitis Peripheral demyelination Sepsis Reduced tendon reflexes Hypopigmentation of the skin Neutropenia Lymphadenopathy Nausea and vomiting Lethargy Rigidity Cranial nerve paralysis Hypopigmented skin patches Jaundice Edema of the lower limbs Reduced delayed hypersensitivity Abnormality of neutrophils Partial albinism Hemophagocytosis Generalized edema White hair Abnormal eyebrow morphology Albinism Abnormal eyelash morphology Pulmonary infiltrates Abnormality of lipid metabolism Iris hypopigmentation Petechiae Premature graying of hair Hepatosplenomegaly Recurrent infections Abnormality of neuronal migration Increased nuchal translucency Wide-cupped costochondral junctions Small abnormally formed scapulae Small foramen magnum Lethal short-limbed short stature Short sacroiliac notch Severe short-limb dwarfism Cloverleaf skull Feeding difficulties Small face Hypoplastic ilia Short femur Aplasia/Hypoplasia of the lungs Short thorax Flared metaphysis Scoliosis Renal insufficiency Immunodeficiency Abnormality of the hypothalamus-pituitary axis Splenomegaly Vomiting Edema Fever Thickened superior cerebellar peduncle Hypometric saccades Biparietal narrowing Low-set, posteriorly rotated ears Nephronophthisis Hand polydactyly Delayed gross motor development Aganglionic megacolon Nephropathy Iris coloboma Oral cleft Aplasia cutis congenita on trunk or limbs



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