Delayed speech and language development, and Iris coloboma

Diseases related with Delayed speech and language development and Iris coloboma

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Iris coloboma that can help you solving undiagnosed cases.


Top matches:

High match DEAFNESS, AUTOSOMAL RECESSIVE 108; DFNB108

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Delayed speech and language development
  • Coloboma


SOURCES: DOID OMIM MONDO

More info about DEAFNESS, AUTOSOMAL RECESSIVE 108; DFNB108

High match CATARACT 21, MULTIPLE TYPES; CTRCT21

Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset.The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'

CATARACT 21, MULTIPLE TYPES; CTRCT21 Is also known as cataract 21, multiple types, with or without microcornea, cataract, congenital, cerulean type, 4;cca4, cataract, pulverulent, juvenile-onset

Related symptoms:

  • Autosomal dominant inheritance
  • Cataract
  • Delayed speech and language development
  • Atrial septal defect
  • Microphthalmia


SOURCES: UMLS OMIM DOID MONDO MESH

More info about CATARACT 21, MULTIPLE TYPES; CTRCT21

High match DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as dpd deficiency, dpyd deficiency, thymine-uraciluria, hereditary, pyrimidinemia, familial;familial pyrimidinemia

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: NCIT ORPHANET MONDO MESH OMIM DOID GARD SCTID

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

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Other less relevant matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20

MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20 Is also known as mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS DOID OMIM MONDO

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20

Medium match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D

Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006).CDG1D is a type I CDG that generally presents with severe neurologic involvement associated with dysmorphism and visual impairment. Liver involvement is sometimes present (summary by Marques-da-Silva et al., 2017).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D Is also known as cdg id;cdgid, carbohydrate-deficient glycoprotein syndrome, type iv, formerly;cdgs4, formerly, cdgs, type iv, formerly;cdg syndrome type id; cdg-id; cdg1d; carbohydrate deficient glycoprotein syndrome type id; congenital disorder of glycosylation type 1d; congenital disorder of glycosylation type id; mannosyltransferase 6 deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: UMLS MESH NCIT GARD SCTID ORPHANET OMIM MONDO

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D

Medium match CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB

Approximately 5 to 20% of all patients with neurofibromatosis type I (OMIM ) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).

CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB Is also known as neurofibromatosis 1 microdeletion syndrome, nf1 microdeletion syndrome, van asperen syndrome;dup(17)(q11.2); grisart-destrée syndrome; trisomy 17q11.2

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: GARD ORPHANET DOID OMIM MONDO

More info about CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB

Medium match HELSMOORTEL-VAN DER AA SYNDROME; HVDAS

HELSMOORTEL-VAN DER AA SYNDROME; HVDAS Is also known as mental retardation, autosomal dominant 28;mrd28;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MONDO GARD DOID OMIM ORPHANET UMLS

More info about HELSMOORTEL-VAN DER AA SYNDROME; HVDAS

Medium match CHROMOSOME 13q14 DELETION SYNDROME

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

CHROMOSOME 13q14 DELETION SYNDROME Is also known as chromosome 13q deletion syndrome;del(13)(q14); deletion 13q14

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Pica


SOURCES: MONDO UMLS MESH NCIT ORPHANET OMIM DOID

More info about CHROMOSOME 13q14 DELETION SYNDROME

Medium match ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL Is also known as ;haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica
  • Failure to thrive


SOURCES: ORPHANET SCTID MESH GARD OMIM UMLS MONDO NCIT

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL

Medium match BARDET-BIEDL SYNDROME 1; BBS1

Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Pica
  • Hearing impairment


SOURCES: OMIM UMLS DOID MESH MONDO GARD EFO

More info about BARDET-BIEDL SYNDROME 1; BBS1

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Iris coloboma

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

Patients with Delayed speech and language development and Iris coloboma. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Hearing impairment Muscular hypotonia Autosomal dominant inheritance Abnormal facial shape Pica Sporadic Cryptorchidism Autism Microphthalmia Cataract Short stature Hypoplasia of the corpus callosum Depressed nasal bridge Low-set ears Hypertelorism Hyperactivity Broad forehead Brachydactyly Absent speech Attention deficit hyperactivity disorder Hypertonia Visual impairment High palate Wide nasal bridge Muscular hypotonia of the trunk Thin upper lip vermilion Abnormal heart morphology Ptosis Nevus Macrocephaly Cerebral atrophy Short nose Ventriculomegaly Neoplasm Autistic behavior Autosomal recessive inheritance Growth delay Failure to thrive Motor delay Abnormality of cardiovascular system morphology

Rare Symptoms - Less than 30% cases


Absent septum pellucidum Epicanthus Protruding ear Neurological speech impairment Thick eyebrow Everted lower lip vermilion Short foot Open mouth Hernia Inguinal hernia Plagiocephaly Agenesis of corpus callosum Ventricular septal defect Bifid uvula Micropenis Macrotia Bone cyst Pectus excavatum Clinodactyly Optic atrophy Bulbous nose Cortical visual impairment Specific learning disability Joint hypermobility Thin vermilion border Atrial septal defect Micrognathia Hydronephrosis Spasticity Retinopathy Obesity Abnormality of the genital system Downslanted palpebral fissures Hirsutism Astigmatism Febrile seizures Tetraplegia Diarrhea Ataxia Feeding difficulties Eyelid coloboma Nystagmus Intellectual disability, severe Alopecia Encephalopathy Abnormality of the gastrointestinal tract Aphasia Dysphasia Anteverted ears Multiple lipomas Muscle stiffness Hamartoma Single transverse palmar crease Cortical dysplasia Lipoma Leukocoria Short 5th toe Hemiplegia Retinoblastoma Arachnoid cyst Aplasia cutis congenita Hypotelorism Abnormality of the eyelashes Glioma Webbed neck Abnormality of the skull Thickened helices Lipodystrophy Sclerocornea Capillary hemangioma Hypoplasia of the iris Aplasia/Hypoplasia of the thumb Abnormal eyelid morphology Hydrocephalus Hemangioma Behavioral abnormality Retinal coloboma Skeletal dysplasia Chorioretinal coloboma Echolalia Finger clinodactyly Patent foramen ovale Oxycephaly Holoprosencephaly Deep philtrum Corneal opacity Papule Acrania Supernumerary nipple Cerebral calcification Trigonocephaly Scarring Mutism Abnormal dermatoglyphics Sacral dimple Cerebellar hypoplasia Rigidity Wide anterior fontanel Cerebral cortical atrophy Osteolysis Hemiparesis Coarctation of aorta Aortic valve stenosis Dandy-Walker malformation Abnormality of the face Pulmonary arterial hypertension Intellectual disability, profound Subcutaneous nodule Paralysis Neoplasm of the skeletal system Dysostosis multiplex Primary amenorrhea Bicuspid aortic valve Left ventricular hypertrophy Situs inversus totalis Hepatic fibrosis Aganglionic megacolon Dental crowding Asthma Pigmentary retinopathy Anosmia Postaxial hand polydactyly Amenorrhea Postaxial polydactyly Decreased testicular size Hypodontia Retinal dystrophy Paraplegia High, narrow palate Radial deviation of finger Clubbing Abnormality of the kidney Poor coordination Hydrometrocolpos Nephrogenic diabetes insipidus Biliary tract abnormality Abnormality of the ovary Gait imbalance Vaginal atresia Microphallus Tapetoretinal degeneration Menstrual irregularities Truncal obesity Undetectable electroretinogram Broad foot Foot polydactyly Macular dystrophy Tricuspid regurgitation External genital hypoplasia Hypoplasia of the uterus Nephronophthisis Pulmonic stenosis Retinal degeneration Xanthomatosis Aplasia cutis congenita of scalp Alopecia areata Tricuspid valve prolapse Abnormal nasolacrimal system morphology Subcutaneous lipoma Abnormal anterior chamber morphology Abnormal aortic morphology Interrupted aortic arch Visceral angiomatosis Porencephalic cyst Hemiatrophy Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Hemihypertrophy Skin tags Ectopia pupillae Astrocytoma Craniofacial hyperostosis Nevus flammeus Epibulbar dermoid Subcortical cerebral atrophy Polydactyly Myopia Hypogonadism Reduced visual acuity Diabetes mellitus Glaucoma Rod-cone dystrophy Syndactyly Renal insufficiency Tics Hypertension Somatic mosaicism Lipomas of the central neryous system Abnormal cartilage morphology Linear hyperpigmentation Osteochondrosis Neurodevelopmental abnormality Hip dislocation Pelvic kidney Chorioretinitis Dolichocephaly Respiratory distress Prominent nasal bridge Poor eye contact Hemiclonic seizures Happy demeanor Abnormal corpus callosum morphology Periventricular leukomalacia Large earlobe Abnormality of the periventricular white matter Infantile spasms Flexion contracture Short chin Tented upper lip vermilion Absence seizures Heterotopia Inability to walk Epileptic encephalopathy Generalized myoclonic seizures Periventricular white matter hyperdensities Hyperreflexia Downturned corners of mouth Nail dysplasia Hypoplastic nipples Long fingers Adducted thumb Abnormality of vision Joint contracture of the hand Small nail Hypsarrhythmia Severe global developmental delay Talipes equinovarus Arthrogryposis multiplex congenita Abnormality of the eye Abnormality of the pinna Vomiting Arrhythmia Blindness Cerebellar atrophy Convex nasal ridge Short philtrum Villous atrophy Posterior polar cataract Fever Hepatomegaly Cortical pulverulent cataract Cerulean cataract Macular hypoplasia Lamellar cataract Polar cataract Thrombocytopenia Nuclear cataract Microcornea Retinal detachment Congenital cataract Abnormality of the ear Cleft lip Peripheral neuropathy Coma Pneumonia EEG abnormality Stomatitis Myoclonus Upslanted palpebral fissure Dilatation Anteverted nares Uraciluria Reduced dihydropyrimidine dehydrogenase activity Recurrent aspiration pneumonia Aspiration pneumonia Weight loss Diffuse cerebral atrophy Hypoventilation Breast carcinoma Aspiration Leukopenia Spastic tetraplegia Lethargy Severe visual impairment Decreased light- and dark-adapted electroretinogram amplitude Nephrotic syndrome Smooth philtrum Exotropia Sparse scalp hair Broad thumb Thick lower lip vermilion Small hand Hypermetropia Microtia Amblyopia Anxiety Neonatal hypotonia Joint laxity Gastroesophageal reflux Prominent forehead Recurrent infections Sensorineural hearing impairment Stereotypy Widely spaced teeth Neurofibrosarcoma Intrauterine growth retardation Finger syndactyly Wide mouth High forehead Clinodactyly of the 5th finger Long philtrum Frontal bossing Short neck Cyanotic episode Language impairment Generalized neonatal hypotonia Juvenile cataract Abnormality of finger Inverted nipples Long palpebral fissure Obsessive-compulsive behavior Bilateral ptosis Infantile onset Deviated nasal septum Portal fibrosis Pes cavus Overgrowth Sparse and thin eyebrow Hypoplasia of dental enamel Tall stature Facial asymmetry Joint hyperflexibility Coarse facial features Malar flattening Sparse eyelashes Intellectual disability, mild Abnormality of the skeletal system Cognitive impairment Scoliosis Food intolerance Clinodactyly of the 5th toe Type I transferrin isoform profile Abnormality of dental enamel Cafe-au-lait spot Spinal neurofibromas Overbite Inguinal freckling Focal T2 hyperintense basal ganglia lesion Plexiform neurofibroma Subcutaneous neurofibromas Optic nerve glioma Axillary freckling Lisch nodules Bifid nose Large hands Thick nasal alae Long foot Broad neck Alopecia of scalp Macroorchidism Neurofibromas Fibroma Septate vagina



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