Global developmental delay, and High myopia

Diseases related with Global developmental delay and High myopia

In the following list you will find some of the most common rare diseases related to Global developmental delay and High myopia that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Myopia
  • Blindness
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 51; RP51

ACHROMATOPSIA 3; ACHM3 Is also known as total colorblindness with myopia|rod monochromatism 1, formerly|achm1, formerly|rod monochromacy 1, formerly|rmch1, formerly|pingelapese blindness|achromatopsia with myopia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Cataract
  • Myopia


SOURCES: OMIM MENDELIAN

More info about ACHROMATOPSIA 3; ACHM3

Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome is a rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.

FOVEAL HYPOPLASIA-OPTIC NERVE DECUSSATION DEFECT-ANTERIOR SEGMENT DYSGENESIS SYNDROME Is also known as foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism|fhonda syndrome|foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis|fhonda

Related symptoms:

  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FOVEAL HYPOPLASIA-OPTIC NERVE DECUSSATION DEFECT-ANTERIOR SEGMENT DYSGENESIS SYNDROME

Other less relevant matches:

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

Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LOPES-MACIEL-RODAN SYNDROME; LOMARS

Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.

CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME Is also known as catshl syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME

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' (Beltran-Valero de Bernabe et al., 2004).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, 5; MDDGA5 Is also known as walker-warburg syndrome or muscle-eye-brain disease, fkrp-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Cataract
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5

ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME Is also known as congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME

Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

Top 5 symptoms//phenotypes associated to Global developmental delay and High myopia

Symptoms // Phenotype % cases
Myopia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Cataract Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and High myopia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microphthalmia Microcephaly Intellectual disability, profound Photophobia

Rare Symptoms - Less than 30% cases

Lissencephaly Ventriculomegaly Hydrocephalus Intellectual disability, severe Dilatation Absent speech Elevated serum creatine phosphokinase Corneal opacity Abnormality of the cerebral white matter Cerebellar cyst Congenital muscular dystrophy Agyria High palate Flexion contracture Growth delay Camptodactyly of finger Interphalangeal joint contracture of finger Severe muscular hypotonia Severe global developmental delay Seizures Scoliosis Sensorineural hearing impairment Muscular dystrophy Short stature Pallor Reduced visual acuity Horizontal pendular nystagmus Strabismus Visual impairment Depressivity Pendular nystagmus Hypoplasia of the fovea Coloboma Achromatopsia Small hand Blindness Nystagmus Left ventricular hypertrophy Retinal detachment Abnormality of skin pigmentation Cerebellar hypoplasia Prolonged prothrombin time Ventricular hypertrophy Prolonged partial thromboplastin time Hyporeflexia Dandy-Walker malformation Hypoplasia of the brainstem Respiratory distress Mild global developmental delay Normocytic anemia Pachygyria Broad femoral metaphyses Respiratory insufficiency Subglottic stenosis Caudate atrophy Hearing impairment Laryngeal cleft Pectus excavatum Camptodactyly Craniosynostosis Arachnodactyly Bilateral sensorineural hearing impairment Motor delay Tall stature Joint contracture of the hand Ectopia lentis Camptodactyly of toe Osteochondroma Increased vertebral height Abnormality of lower limb joint Aqueductal stenosis Hypoplasia of the pons Metaphyseal widening Cerebellar dysplasia Low-set ears Aspiration Mild short stature Scaling skin Abnormality of visual evoked potentials Metaphyseal irregularity Drusen Failure to thrive Anemia Neurodevelopmental delay Diarrhea Thrombocytopenia Constipation Respiratory tract infection Neutropenia Rhizomelia Genu varum Spastic tetraplegia Delayed myelination Type II lissencephaly Metaphyseal dysplasia Severe hydrocephalus Severe failure to thrive Hypertonia Laryngomalacia Hernia Exocrine pancreatic insufficiency Inguinal hernia Hyperkeratosis Brain atrophy Erythema Dry skin Ichthyosis Tetraplegia Generalized myoclonic seizures Asthma Steatorrhea Central hypotonia Bruxism Spasticity Ankle clonus Hypoplasia of the corpus callosum Alternating esotropia Foveal hyperpigmentation Moderate hypermetropia Inferior chorioretinal coloboma Optic nerve misrouting Muscular hypotonia Macrocephaly Myopathy Anterior segment developmental abnormality Glaucoma Respiratory failure Polymicrogyria Retinal dystrophy Cerebral calcification Cerebellar vermis hypoplasia Leukodystrophy Axenfeld anomaly Posterior embryotoxon Poor head control Severe vision loss Rod-cone dystrophy Polydactyly Nyctalopia Macular degeneration Attenuation of retinal blood vessels Bone spicule pigmentation of the retina Abnormal light- and dark-adapted electroretinogram Dyschromatopsia Aniridia Tapetoretinal degeneration Monochromacy Autistic behavior Hypermetropia Astigmatism Esotropia Chorioretinal coloboma Albinism Holoprosencephaly Buphthalmos Focal impaired awareness seizure Abnormal pyramidal sign Dysphagia Cerebellar atrophy Dystonia Kyphosis Cerebral atrophy Muscular hypotonia of the trunk Developmental regression Poor speech Cognitive impairment Unsteady gait Short foot Chorea Focal-onset seizure Bradykinesia Tetraparesis Spastic tetraparesis Tremor Pain Hypertelorism Skin rash Fever Behavioral abnormality Arthralgia Pes planus Aggressive behavior Joint laxity Intellectual disability, moderate Adducted thumb Head-banging Emotional lability Limited elbow extension Overweight Generalized joint laxity Mood swings Stuttering Hypersexuality Tryptophanuria Hyperechogenic pancreas


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