Cognitive impairment, and Coloboma

Diseases related with Cognitive impairment and Coloboma

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


Top matches:

Low match ALG2-CDG


ALG2-CDG is a form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.

ALG2-CDG Is also known as congenital disorder of glycosylation type 1i|cdg ii|cdgii|cdg syndrome type ii|mannosyltransferase 2 deficiency|carbohydrate deficient glycoprotein syndrome type ii|cdg1i|congenital disorder of glycosylation type ii|cdg-ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Nystagmus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG2-CDG

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11


PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

Low match JOUBERT SYNDROME 3; JBTS3


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 3; JBTS3

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Other less relevant matches:

Low match NEUROCUTANEOUS MELANOCYTOSIS


Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

Low match STROMME SYNDROME; STROMS


Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

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

Low match ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME


Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

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 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 TRIPLE A SYNDROME


Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.

TRIPLE A SYNDROME Is also known as glucocorticoid deficiency and achalasia|quaternary a syndrome|addisonian-achalasia syndrome|achalasia-addisonianism-alacrima syndrome|alacrima-achalasia-adrenal insufficiency neurologic disorder|2a syndrome|3a syndrome|adrenal insufficiency-achalasia-alac

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRIPLE A SYNDROME

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

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

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

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Visual impairment Nystagmus Ptosis Spasticity Hydrocephalus Cerebellar hypoplasia Anteverted nares Agenesis of corpus callosum Molar tooth sign on MRI Hypoplasia of the corpus callosum Strabismus Cataract Cerebellar vermis hypoplasia Microcephaly Apraxia Iris coloboma Abnormality of the nervous system Dandy-Walker malformation Prominent nasal bridge Optic atrophy Oculomotor apraxia Low-set ears Polymicrogyria Micrognathia Encephalocele Highly arched eyebrow Retinal dystrophy Polydactyly Tremor Elongated superior cerebellar peduncle Dysarthria

Rare Symptoms - Less than 30% cases


Ventriculomegaly Enlarged fossa interpeduncularis Neonatal breathing dysregulation EEG abnormality Episodic tachypnea Chorioretinal coloboma Aplasia/Hypoplasia of the cerebellum Generalized hyperpigmentation Central apnea Dilatation Meningocele Motor delay Abnormal pattern of respiration Breathing dysregulation Long face Abnormality of eye movement Apnea Abnormality of the eye Feeding difficulties Mandibular prognathia Absent speech Retinal dysplasia Cleft palate Hypoplasia of the brainstem Abnormality of movement Neurological speech impairment Neonatal hypotonia Gait disturbance Muscle weakness Optic nerve hypoplasia Microphthalmia Myopathy Nephronophthisis Congenital cataract Hypertonia Renal insufficiency Skeletal muscle atrophy Generalized muscle weakness Hyperreflexia Limb ataxia Epicanthus Wide nasal bridge Hyperactivity Dysphagia Intellectual disability, severe Open mouth Prominent forehead Nephropathy Frontal cortical atrophy Scoliosis Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Delayed speech and language development Abnormality of coagulation CNS hypomyelination Oral cleft Hypsarrhythmia Aganglionic megacolon Aggressive behavior Delayed gross motor development Hand polydactyly Biparietal narrowing Abnormality of the foot Abnormality of the kidney Hepatomegaly Hypometric saccades Thickened superior cerebellar peduncle Telecanthus Abnormal facial shape Macrocephaly Abnormality of the hypothalamus-pituitary axis Broad distal phalanx of finger Truncal titubation Poor head control Cerebral cortical atrophy Gait ataxia Reduced visual acuity Muscular hypotonia of the trunk Corneal opacity Synophrys Pulmonic stenosis Unsteady gait High, narrow palate Hypopigmentation of the skin Abnormal cerebellum morphology Involuntary movements Low anterior hairline Slurred speech Craniofacial asymmetry Bilateral ptosis Postural tremor Mask-like facies Brisk reflexes Aniridia Hypoplasia of the iris Hearing abnormality Hypoplasia of the fovea Speech apraxia Titubation Abnormality of the pulmonary artery Downturned corners of mouth Scanning speech Abnormality of skin pigmentation Narrow forehead Renal cyst Adrenal insufficiency Peripheral axonal neuropathy Tachycardia Neurodegeneration Polyneuropathy Palmoplantar keratoderma Parkinsonism Hypotension Tetraparesis Hyperpigmentation of the skin Abnormal autonomic nervous system physiology Spastic tetraparesis Palmoplantar hyperkeratosis Oral-pharyngeal dysphagia Ectopic kidney Hypoglycemia Orthostatic hypotension Primary adrenal insufficiency Abnormality of visual evoked potentials Motor axonal neuropathy Achalasia Decreased circulating cortisol level Anterior hypopituitarism Decreased circulating aldosterone level Alacrima Plantar hyperkeratosis Anisocoria Abnormality of the calf musculature Abnormality of the hypothenar eminence Developmental regression Weight loss Macroglossia Abnormality of ocular smooth pursuit Postaxial hand polydactyly Cerebral atrophy Heterotopia Hepatic fibrosis Tachypnea Occipital encephalocele Protruding tongue Self-mutilation Impaired smooth pursuit Optic nerve coloboma Agenesis of cerebellar vermis Abnormal saccadic eye movements Meningoencephalocele Dysgenesis of the cerebellar vermis Hyperkeratosis Brainstem dysplasia Hemifacial spasm Occipital myelomeningocele Triangular-shaped open mouth Short stature Sensorineural hearing impairment Peripheral neuropathy Fatigue Respiratory insufficiency Arrhythmia Babinski sign Pes cavus Dementia Hyperhidrosis Talipes equinovarus Truncal ataxia Intellectual disability, mild Hydronephrosis Spinal cord compression Meningioma Astrocytoma Papilloma Choroid plexus papilloma Numerous congenital melanocytic nevi Hypertelorism Stereotypy Broad-based gait Progressive neurologic deterioration Esotropia Deeply set eye Abnormality of the pinna Syringomyelia Wide mouth Inability to walk Malabsorption Astigmatism Microcornea Intestinal malrotation Prominent nose Renal hypoplasia Short palpebral fissure Bulbous nose Preaxial polydactyly Short columella Sclerocornea Arachnoid cyst Poor eye contact Ectopia pupillae Hemiparesis Abnormal electroretinogram Delayed ability to walk Retinal coloboma Pigmentary retinopathy Stage 5 chronic kidney disease Abnormality of the liver Kyphoscoliosis Neoplasm Hypertension Behavioral abnormality Happy demeanor Mental deterioration Nevus Thickened skin Abnormality of neuronal migration Abnormality of retinal pigmentation Generalized hirsutism Cranial nerve paralysis Venous thrombosis Renal hypoplasia/aplasia Arnold-Chiari malformation Melanoma Increased intracranial pressure Encephalitis Intracranial hemorrhage Impaired social interactions Melanocytic nevus Poor coordination Duodenal atresia Sex reversal Cerebellar atrophy Hyporeflexia Severe muscular hypotonia Holoprosencephaly Lissencephaly Aplasia/Hypoplasia of the corpus callosum Infantile muscular hypotonia Abnormality of the voice Congenital muscular dystrophy Recurrent respiratory infections Hemiplegia/hemiparesis Cortical dysplasia Congenital glaucoma Retinal atrophy Megalocornea Hypoplasia of the pons EMG abnormality Undetectable electroretinogram Buphthalmos Decreased light- and dark-adapted electroretinogram amplitude Cerebellar dysplasia Type II lissencephaly Cerebellar cyst Hypoglycosylation of alpha-dystroglycan Uncontrolled eye movements Hypoplasia of the retina Short nasal bridge Enlarged flash visual evoked potentials Renal dysplasia Downslanted palpebral fissures Opacification of the corneal stroma Pachygyria Peters anomaly Midface retrusion Intestinal atresia Accessory spleen Retinal vascular tortuosity Bilateral renal hypoplasia Hypoplastic iris stroma Jejunal atresia Corneal astigmatism Anal atresia Myopia Talipes Poor speech Malar flattening Hypermetropia Elevated serum creatine phosphokinase Intellectual disability, profound Myoclonus Glaucoma Attention deficit hyperactivity disorder Pallor Protruding ear Muscular dystrophy Severe global developmental delay Abnormality of the cerebral white matter Respiratory tract infection Difficulty walking Retinal degeneration Everted lower lip vermilion High myopia Adrenocorticotropin receptor defect



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Distal sensory impairment, related diseases and genetic alterations Intellectual disability, severe and Finger syndactyly, related diseases and genetic alterations Hyperreflexia and Bone marrow hypocellularity, related diseases and genetic alterations Skeletal muscle atrophy and Pes cavus, related diseases and genetic alterations

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