Delayed speech and language development, and Glaucoma

Diseases related with Delayed speech and language development and Glaucoma

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


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Low 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:

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


SOURCES: MONDO UMLS OMIM

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

Low match SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF

SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF Is also known as ;retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: OMIM ORPHANET

More info about SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF

Low match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B

De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B Is also known as de barsy syndrome b;pycr1 deficiency; pyrroline-5-carboxylate reductase 1 deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM ORPHANET MONDO DOID UMLS

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B

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Other less relevant matches:

Low match SHORT SYNDROME

'Short,' the mnemonic designation for this syndrome, is an acronym: S = stature; H = hyperextensibility of joints or hernia (inguinal) or both; O = ocular depression; R = Rieger anomaly; T = teething delay. The name was given by Gorlin (1975), who described the syndrome in 2 brothers.Dyment et al. (2013) noted that the features listed in the acronym for SHORT syndrome do not capture the full range of the clinical phenotype, which can include a recognizable facial gestalt consisting of triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, as well as near-universal partial lipodystrophy, insulin resistance, nephrocalcinosis, and hearing deficits. Notably, both developmental milestones and cognition are normal for individuals with SHORT syndrome.

SHORT SYNDROME Is also known as short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay, lipodystrophy, partial, with rieger anomaly and short stature;aarskog-ose-pande syndrome; lipodystrophy-rieger anomaly-diabetes syndrome; rieger anomaly-partial lipodystrophy syndrome

Related symptoms:

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


SOURCES: OMIM GARD ORPHANET UMLS MESH MONDO

More info about SHORT SYNDROME

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4

MDDGA4 is a severe autosomal recessive muscular dystrophy-dystroglycanopathy with characteristic brain and eye malformations, seizures, and mental retardation. Cardiac involvement in FCMD/MEB occurs in the second decade of life in those who survive. FKTN-related Walker-Warburg syndrome is a more severe manifestation of the disorder, with death usually in the first year of life. These entities are part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007; Muntoni and Voit, 2004; Muntoni et al., 2008).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, 4; MDDGA4 Is also known as fukuyama congenital muscular dystrophy;fcmd, walker-warburg syndrome or muscle-eye-brain disease, fktn-related;fcmd; fukuyama congenital muscular dystrophy

Related symptoms:

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


SOURCES: MONDO UMLS SCTID ORPHANET DOID NCIT OMIM

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4

Low 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

Low match RITSCHER-SCHINZEL SYNDROME 1; RTSC1

The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay (summary by Leonardi et al., 2001; Seidahmed et al., 2011). Genetic Heterogeneity of Ritscher-Schinzel SyndromeSee also RTSC2 (OMIM ), caused by mutation in the CCDC22 gene (OMIM ) on chromosome Xp11.

RITSCHER-SCHINZEL SYNDROME 1; RTSC1 Is also known as craniocerebellocardiac dysplasia, 3c syndrome, dandy-walker-like malformation with atrioventricular septal defect;craniocerebellocardiac dysplasia; ritscher-schinzel syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: SCTID UMLS OMIM MONDO DOID ORPHANET

More info about RITSCHER-SCHINZEL SYNDROME 1; RTSC1

Low match ANTERIOR SEGMENT DYSGENESIS 7; ASGD7

Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).In sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral (summary by Smith and Traboulsi, 2012).Isolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced (summary by Nischal, 2007).

ANTERIOR SEGMENT DYSGENESIS 7; ASGD7 Is also known as corneal opacification with other ocular anomalies;copoa, sclerocornea with other ocular anomalies;ccmco

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Motor delay
  • Cataract
  • Coma


SOURCES: OMIM UMLS MONDO DOID ORPHANET

More info about ANTERIOR SEGMENT DYSGENESIS 7; ASGD7

Low match PIERSON SYNDROME

Pierson syndrome is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss (summary by Zenker et al., 2004).Mutations in the LAMB2 gene also cause nephrotic syndrome type 5 with or without mild ocular anomalies (NPHS5 ).

PIERSON SYNDROME Is also known as microcoria-congenital nephrotic syndrome;microcoria-congenital nephrosis syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Motor delay
  • Muscular hypotonia


SOURCES: MONDO OMIM MESH SCTID DOID UMLS GARD NCIT ORPHANET

More info about PIERSON SYNDROME

Low match CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D

Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal recessive disorder of the peripheral nervous system characterized by early-onset distal muscle weakness and atrophy, foot deformities, and sensory loss affecting all modalities. Affected individuals develop deafness by the third decade of life (summary by Okamoto et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive Charcot-Marie-Tooth disease, see CMT4A (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D Is also known as neuropathy, hereditary motor and sensory, lom type;hmsnl, charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4d, charcot-marie-tooth neuropathy, type 4d, hmsn4d;cmt4d; hmsn, lom type; hmsn-lom; hereditary motor and sensory neuropathy, lom type

Related symptoms:

  • Autosomal recessive inheritance
  • Pica
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment


SOURCES: OMIM SCTID MESH DOID GARD MONDO ORPHANET UMLS

More info about CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D

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

Symptoms // Phenotype % cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Coma Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cataract Myopia Macrocephaly Hearing impairment Brachydactyly Pica Buphthalmos Muscular hypotonia Motor delay Congenital glaucoma Hypertelorism Short stature Nystagmus Sensorineural hearing impairment Abnormal facial shape Neurological speech impairment Inguinal hernia Oxycephaly Prominent forehead Hip dislocation Intrauterine growth retardation Diabetes mellitus Scoliosis Sparse hair Flexion contracture Pulmonic stenosis Microphthalmia Cerebellar vermis hypoplasia Ventriculomegaly Visual impairment Areflexia Hydrocephalus Corneal opacity

Rare Symptoms - Less than 30% cases


Hypodontia Large fontanelles Skeletal muscle atrophy Excessive wrinkled skin Underdeveloped nasal alae Optic atrophy Thin skin Milia Deeply set eye Muscle weakness Hernia Micrognathia Wide nasal bridge Gait disturbance Abnormality of the hand Microcornea Frontal bossing Alopecia Atrial septal defect Abnormal heart morphology Increased intraocular pressure Posterior embryotoxon Hypoplasia of the iris Cerebellar hypoplasia Brachycephaly Radial deviation of finger Hemivertebrae Congenital hip dislocation Preauricular skin tag Strabismus Cryptorchidism Polymicrogyria Holoprosencephaly Abnormality of the kidney Hypertension Lissencephaly Coloboma Short nose High, narrow palate Rod-cone dystrophy Posteriorly rotated ears High forehead Cerebellar cyst Retinal dystrophy Abnormality of the genital system Iris coloboma Muscular dystrophy Elevated serum creatine phosphokinase Abnormality of the cerebral white matter Syndactyly Myopathy Infantile onset Dilatation Intellectual disability, severe Renal insufficiency Prominent nasal bridge Asthma Camptodactyly Low posterior hairline Finger syndactyly Anal atresia Postnatal growth retardation Skeletal dysplasia Hydronephrosis Left ventricular hypertrophy Abnormal cardiac septum morphology Broad forehead Toe syndactyly Tetralogy of Fallot Cleft lip Dental crowding Death in infancy Growth hormone deficiency Bifid uvula Aganglionic megacolon Decreased antibody level in blood Renal agenesis Situs inversus totalis Hypoplasia of penis Hepatic fibrosis Postural instability Recurrent respiratory infections Feeding difficulties in infancy External genital hypoplasia Septate vagina Hypoplasia of the uterus Hydrometrocolpos Nephrogenic diabetes insipidus Biliary tract abnormality Abnormality of the ovary Gait imbalance Microphallus Growth delay Tricuspid regurgitation Tapetoretinal degeneration Macular dystrophy Foot polydactyly Poor coordination Menstrual irregularities Broad foot Microcephaly Nephronophthisis Gastroesophageal reflux Abnormality of the skeletal system Immunodeficiency Undetectable electroretinogram Patent ductus arteriosus Hypospadias Abnormality of cardiovascular system morphology Kyphosis Bicuspid aortic valve Ventricular septal defect Truncal obesity Anosmia Short neck Downslanted palpebral fissures Feeding difficulties Depressed nasal bridge Low-set ears Clubbing Cleft palate Vaginal atresia Complete atrioventricular canal defect Oral cleft Microcoria Proximal muscle weakness Kyphoscoliosis Pes cavus Hyporeflexia Talipes equinovarus Peripheral neuropathy Hypoplasia of the ciliary body Posterior lenticonus Lenticonus Limb muscle weakness Congenital nephrotic syndrome Diffuse mesangial sclerosis Hypoproteinemia Neonatal onset Severe visual impairment Severe muscular hypotonia Stage 5 chronic kidney disease Nephrotic syndrome Abnormality of the nervous system Distal muscle weakness Distal sensory impairment Blindness Hammertoe Talipes cavus equinovarus Vitamin E deficiency Abnormal auditory evoked potentials Segmental peripheral demyelination/remyelination Abnormality of visual evoked potentials Axonal loss Onion bulb formation Decreased motor nerve conduction velocity Decreased nerve conduction velocity Abnormality of the foot CNS hypomyelination Trophic changes related to pain Split hand Peripheral demyelination Juvenile onset Sensory neuropathy Unsteady gait Distal amyotrophy Talipes Proteinuria Edema Intestinal malrotation Abnormality of the hip bone Hypoplastic fingernail Adrenal hypoplasia Pierre-Robin sequence Atrioventricular canal defect Mesomelia Hypoplastic left heart Prominent occiput Abnormality of neuronal migration Unilateral renal agenesis Ectopic anus Aplasia/Hypoplasia of the cerebellum Chorioretinal coloboma Hand polydactyly Narrow palate Wormian bones Horseshoe kidney Aortic valve stenosis Dandy-Walker malformation Limb undergrowth Missing ribs Single umbilical artery Anterior segment developmental abnormality Abnormality of the fontanelles or cranial sutures Sclerocornea Abnormality of the outer ear Primum atrial septal defect Cerebellar malformation Humoral immunodeficiency Contractures of the large joints Facial hemangioma Posterior fossa cyst Lateral clavicle hook Abnormal tricuspid valve morphology Enlarged cisterna magna Abnormal mitral valve morphology Neural tube defect Conotruncal defect Pigmentary retinopathy Lethal skeletal dysplasia Double outlet right ventricle Mitral stenosis Communicating hydrocephalus Aplasia/Hypoplasia of the nipples Primary amenorrhea Congenital muscular dystrophy Postaxial hand polydactyly Weight loss Triangular face Delayed eruption of teeth Joint hypermobility Downturned corners of mouth Short palm Joint hyperflexibility Small for gestational age Joint laxity Dental malocclusion Telecanthus Macrotia Severe short stature Clinodactyly Depressivity Delayed skeletal maturation Midface retrusion Abnormality of the skin Bilateral sensorineural hearing impairment Abnormality of the dentition Short chin Megalocornea Lipoatrophy Reduced subcutaneous adipose tissue Abnormality of the immune system Glucose intolerance Hyperglycemia Increased body weight Prominent supraorbital ridges Microdontia Lipodystrophy Calcinosis Nephrocalcinosis Abnormality of dental enamel Opacification of the corneal stroma Insulin resistance Abnormality of the face Hypotrichosis Malar flattening Failure to thrive Insulin-resistant diabetes mellitus Renal cortical cysts Broad nasal tip Thin upper lip vermilion Hypothyroidism Upslanted palpebral fissure Long philtrum Cerebellar atrophy Anteverted nares Poor head control Broad thumb Leukodystrophy High myopia Cerebral calcification Acrania Respiratory failure Absent speech Hypoplasia of the corpus callosum Delayed myelination Corneal dystrophy Autosomal dominant inheritance Athetosis Dermal translucency Narrow nasal ridge Narrow palpebral fissure Pyloric stenosis Cutis laxa Elbow flexion contracture Fine hair Blue sclerae Progressive hearing impairment Thin vermilion border Blepharophimosis Pes planus Osteoporosis Broad columella Broad distal phalanx of finger Wide nasal base Congenital hypothyroidism Poor appetite Premature skin wrinkling Amenorrhea Retinal dysplasia Lobar holoprosencephaly Myocardial fibrosis Exaggerated startle response Auricular tag Type II lissencephaly Cerebellar dysplasia Ankle contracture Weak cry Hypoplasia of the pyramidal tract Anencephaly Transposition of the great arteries Atrophy/Degeneration affecting the brainstem Spinal rigidity Multiple joint contractures Generalized amyotrophy Cortical dysplasia Thoracic hemivertebrae Hypoglycosylation of alpha-dystroglycan Calf muscle hypertrophy Retinal degeneration Specific learning disability Postaxial polydactyly Decreased testicular size Hirsutism Astigmatism Paraplegia Short foot Retinopathy Ataxia Polydactyly Hypogonadism Reduced visual acuity Micropenis Obesity Tics High palate Nevus Cephalocele Increased variability in muscle fiber diameter Abnormal pupil morphology Abnormality of the zygomatic bone Rigidity EEG abnormality Agenesis of corpus callosum Respiratory distress Pectus excavatum Respiratory insufficiency Seizures Hypoplastic facial bones Abnormality of the pinna Abnormality of the mandible Enlarged epiphyses Birth length less than 3rd percentile Rieger anomaly Abnormal cornea morphology Abnormal anterior chamber morphology Dimple chin Camptodactyly of finger Apnea Hypoplasia of the brainstem Pachygyria Skeletal muscle hypertrophy Mask-like facies Aplasia/Hypoplasia of the corpus callosum Plagiocephaly Knee flexion contracture Bradycardia EMG abnormality Encephalocele Arthrogryposis multiplex congenita Generalized muscle weakness Brain atrophy Abnormal cerebellum morphology Retinal detachment Hypermetropia Dilated cardiomyopathy Dolichocephaly Congenital cataract Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material



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