Hydrocephalus, and Schizophrenia

Diseases related with Hydrocephalus and Schizophrenia

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

Top matches:

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Other less relevant matches:

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

High match JACOBSEN SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS ) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). {30,31:Mackenzie et al. (2009, 2010)} provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below). Clinical Variability of TauopathiesTauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy.Other neurodegenerative associated with mutations in the MAPT gene include Pick disease (OMIM ) and progressive supranuclear palsy (PSP ),Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also been collectively termed 'FTDP17' (Lee et al., 2001).Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies. Genetic Heterogeneity of Frontotemporal Lobar DegenerationMutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTLD with TDP43 inclusions (OMIM ), caused by mutation in the GRN gene (OMIM ) on chromosome 17q21; FTLD mapping to chromosome 3 (OMIM ), caused by mutation in the CHMP2B gene (OMIM ); inclusion body myopathy with Paget disease and FTD (IBMPFD ), caused by mutation in the VCP gene (OMIM ) on chromosome 9p13; ALS6 (OMIM ), caused by mutation in the FUS gene (OMIM ) on 16p11; ALS10 (OMIM ), caused by mutation in the TARDBP gene (OMIM ) on 1p36; and FTDALS (OMIM ), caused by mutation in the C9ORF72 gene (OMIM ) on 9p.In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1 ) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3 ).

FRONTOTEMPORAL DEMENTIA; FTD Is also known as mstd|frontotemporal dementia with parkinsonism|ftld with tau inclusions|ddpac|ftdp17|wilhelmsen-lynch disease|pallidopontonigral degeneration|frontotemporal lobar degeneration with tau inclusions|frontotemporal lobe dementia|disinhibition-dementia-parkins

Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Tremor
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA; FTD

Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Top 5 symptoms//phenotypes associated to Hydrocephalus and Schizophrenia

Symptoms // Phenotype % cases
Behavioral abnormality Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Schizophrenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Cataract

Common Symptoms - More than 50% cases

Inguinal hernia

Uncommon Symptoms - Between 30% and 50% cases

Strabismus

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Patent ductus arteriosus Microphthalmia Aggressive behavior Attention deficit hyperactivity disorder Anxiety Hypothyroidism Depressivity Intellectual disability, mild Hypertelorism Cryptorchidism Atrial septal defect Macrocephaly Hypoplasia of the corpus callosum Ventriculomegaly Ventricular septal defect Short neck Bulbous nose Immunodeficiency Telecanthus Abnormality of cardiovascular system morphology Truncus arteriosus Mental deterioration Micrognathia Ptosis Anemia Downslanted palpebral fissures Thrombocytopenia Bipolar affective disorder Spina bifida Arthritis Cognitive impairment Specific learning disability Hyperactivity Epicanthus High palate Failure to thrive Frontal bossing Talipes equinovarus Hypertonia Tetralogy of Fallot Autism Hypospadias Abnormal form of the vertebral bodies Bradykinesia Neurodegeneration Posterior embryotoxon Hypoparathyroidism Long philtrum Meningocele Intrauterine growth retardation Seborrheic dermatitis Narrow mouth Impaired T cell function Pectus excavatum Conductive hearing impairment Purpura Acne Umbilical hernia Cleft palate Recurrent infections Obesity Abnormal heart morphology Dementia Retrognathia Autoimmunity Rheumatoid arthritis Anal atresia Chorea Hypocalcemia Intellectual disability, severe Nasal speech Cholelithiasis Arteria lusoria Anteverted nares Delayed speech and language development Hydronephrosis Feeding difficulties in infancy Hand polydactyly Iris coloboma Interrupted aortic arch Joint hyperflexibility Flexion contracture Optic atrophy Vesicoureteral reflux Sensorineural hearing impairment Coarctation of aorta Low-set ears Agenesis of corpus callosum Gait disturbance Wide nasal bridge Intellectual disability, moderate Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases

Arnold-Chiari malformation Psychosis Low posterior hairline Primary amenorrhea Bicuspid aortic valve Open mouth Renal dysplasia Holoprosencephaly Dysphasia Tetany Multicystic kidney dysplasia Amenorrhea Abnormality of the pinna Renal agenesis Postural instability Fever Craniosynostosis Intestinal malrotation Cerebellar atrophy Hernia Abnormal aortic valve morphology Short philtrum Bifid uvula Posteriorly rotated ears Single transverse palmar crease Amblyopia Blepharophimosis Neurological speech impairment Hemolytic anemia Brain atrophy Psoriasiform dermatitis Pes planus Graves disease Dysarthria Hyperreflexia Juvenile rheumatoid arthritis Abnormality of the dentition Aplasia of the uterus Constipation Sacral meningocele Perimembranous ventricular septal defect Abnormal thrombocyte morphology Platybasia Right aortic arch Duodenal stenosis Paranoia Retinal vascular tortuosity Giant platelets Conotruncal defect Aplasia of the thymus Tremor Dysphagia Gliosis Abnormality of eye movement Cerebral cortical atrophy Right aortic arch with mirror image branching Apathy Obsessive-compulsive behavior Unilateral renal agenesis Congestive heart failure Inflammation of the large intestine Autoimmune hemolytic anemia Irritability Dystonia Autoimmune thrombocytopenia Rigidity Brachydactyly Hypoplasia of the thymus Depressed nasal bridge Vitiligo Growth delay Alcoholism Myelomeningocele Neuronal loss in central nervous system Diabetes mellitus Myopathy Transposition of the great arteries Hypogonadism Broad hallux phalanx Self-injurious behavior Abnormal palate morphology Ataxia Clinodactyly of the 5th finger Neoplasm Deeply set eye Peripheral neuropathy Abnormality of the skeletal system Abnormal cardiac septum morphology Thick lower lip vermilion Otitis media Hallucinations Kyphosis Hypoplasia of the maxilla Short distal phalanx of finger Malar flattening Narrow chest Congenital cataract Prominent nasal bridge Abnormal pyramidal sign Protruding ear Osteopenia Macrotia Gait ataxia Osteoporosis Basal ganglia calcification Foot polydactyly Autistic behavior Broad thumb Hip dysplasia Narrow iliac wings Joint hypermobility Gastroesophageal reflux Hip dislocation Spasticity Glaucoma Restlessness Broad hallux Personality changes Toe syndactyly Hammertoe Chorioretinal coloboma Heart murmur Microcornea Atrioventricular canal defect Tachycardia Bruising susceptibility Talipes Flat occiput Abnormal involuntary eye movements Smooth philtrum Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Short toe Premature birth Ectropion Dehydration Leukodystrophy Sinusitis Short thumb Pachygyria Pancytopenia Eczema Aortic valve stenosis Bone marrow hypocellularity Horseshoe kidney Trigonocephaly Azoospermia Microdontia Tachypnea Growth hormone deficiency Infantile muscular hypotonia Pyloric stenosis Webbed neck Decreased antibody level in blood Mutism Skin rash Facial asymmetry Varicose veins Anorectal anomaly Abnormal pulmonary valve morphology Arrhinencephaly Frequent temper tantrums Small earlobe Abnormality of the pharynx Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Abnormal eyelid morphology Suicidal ideation Abnormality of the skull Multiple renal cysts Patellar dislocation Turricephaly Abnormal lung lobation Hyperthyroidism Bowel incontinence Chronic otitis media Overfolded helix Abnormality of the thorax Polycystic kidney dysplasia Retinal arteriolar tortuosity Hypertensive crisis Dolichocephaly High forehead Small for gestational age Leukemia Finger syndactyly Slender finger Coloboma Postnatal growth retardation Camptodactyly Low-set, posteriorly rotated ears Hypoglycemia Thin upper lip vermilion Prominent forehead Abnormal aortic arch morphology Recurrent respiratory infections Clinodactyly Cerebral atrophy Syndactyly Short nose Feeding difficulties Neuronal loss in basal ganglia Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Partial agenesis of the corpus callosum Broad columella Natal tooth Myoclonus Lack of insight Semantic dementia Parasomnia Prosopagnosia Inappropriate sexual behavior Anomia Socially inappropriate behavior Urinary incontinence Hypertension Weight loss Frontal lobe dementia Cough Abnormality of the cerebral white matter Infertility Abnormality of movement Falls Abnormal cerebellum morphology Progressive cerebellar ataxia Generalized-onset seizure Type II diabetes mellitus Parkinsonism Memory impairment Hypopigmented skin patches Confusion Supranuclear gaze palsy Postural tremor Alzheimer disease Amyotrophic lateral sclerosis Agitation Fasciculations Aphasia Polyphagia Neurofibrillary tangles Frontotemporal dementia Lewy bodies Senile plaques Hyperorality Upper motor neuron dysfunction Disinhibition Degeneration of anterior horn cells Primitive reflex Stiff neck Apraxia Inappropriate behavior Abnormality of extrapyramidal motor function Perseveration Inappropriate laughter Progressive neurologic deterioration Poor speech Wheezing Aplasia/Hypoplasia of the earlobes Dilated fourth ventricle Urethral stenosis Long hallux Abnormality of the head Testicular atrophy Nasolacrimal duct obstruction Language impairment Labial hypoplasia Mania Nuclear cataract Central hypothyroidism Mitral stenosis Ectopic anus Duodenal atresia Eyelid coloboma Chronic constipation Retinal dysplasia Diastasis recti Missing ribs Double outlet right ventricle Abnormal eyelash morphology U-Shaped upper lip vermilion Chronic bronchitis Broad-based gait Bronchitis Clumsiness Involuntary movements Hyperkinesis Incoordination Dilatation Slurred speech Akinesia Hypokinesia Muscle fibrillation Abnormality of the curvature of the vertebral column Cerebellar vermis atrophy Clitoral hypoplasia Upper limb undergrowth Head tremor Megakaryocyte dysplasia Congenital thrombocytopenia Bilateral camptodactyly Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Macular hypoplasia Laryngomalacia Tetraplegia Abnormality of dental enamel Calcification of the auricular cartilage Hypoplasia of the brainstem Dysdiadochokinesis Abnormality of the hand Narrow palpebral fissure Peripheral demyelination Underdeveloped nasal alae Dysmetria Pulmonic stenosis Absent speech Superiorly displaced ears Increased size of the mandible Abnormality of the ear Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Absent axillary hair Posterior polar cataract Abnormal glucose tolerance Ectopic calcification Recurrent ear infections Myopathic facies Axonal loss Generalized osteoporosis Vascular ring Coarse facial features Kyphoscoliosis Mandibular prognathia Delayed skeletal maturation Cardiomyopathy Muscle weakness Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Central nervous system degeneration Submucous cleft hard palate Psychotic episodes Velopharyngeal insufficiency Mood swings Pulmonary artery atresia Abnormality of the endocrine system Echolalia Pierre-Robin sequence Delusions Hearing abnormality Anal stenosis Bone cyst Tics Wide mouth Pes cavus Sparse scalp hair Cerebral calcification Nevus Downturned corners of mouth Distal amyotrophy Genu valgum Synophrys Broad forehead Developmental regression Brachycephaly Babinski sign Gynecomastia Areflexia Midface retrusion Ankyloglossia High hypermetropia Sleep disturbance Short foot Joint laxity Constrictive median neuropathy Relative macrocephaly Arthrogryposis multiplex congenita Thickened skin Clonus Dystrophic fingernails Ankle clonus Broad face Progressive gait ataxia Thoracic kyphosis Poor coordination Irregular vertebral endplates Insulin-resistant diabetes mellitus Striae distensae Hip contracture Congenital hypothyroidism Sparse body hair Mixed hearing impairment Hypergonadotropic hypogonadism Truncal obesity Anonychia Metatarsus adductus Bilateral cryptorchidism Melanocytic nevus Plagiocephaly Osteolysis Spastic paraparesis Knee flexion contracture Paraparesis Hyperlordosis Pectus carinatum Aganglionic megacolon Bifid sternum High, narrow palate Polymicrogyria Astigmatism Generalized tonic-clonic seizures Microtia Abnormality of the kidney Cleft lip Drumstick terminal phalanges Abnormality of the nasal alae Thick nasal septum Uterine prolapse Exotropia Lumbar kyphosis Retinoschisis Pseudoepiphyses of the metacarpals Stooped posture Cataplexy Hyperconvex fingernails Abnormal tricuspid valve morphology Broad finger Thick nasal alae Abnormal diaphysis morphology Short palpebral fissure Sclerocornea Rectal prolapse Splenomegaly Choanal atresia Renal hypoplasia Gastrointestinal hemorrhage Asthma Long face Arachnodactyly Carious teeth Myalgia Polyhydramnios Upslanted palpebral fissure Type I truncus arteriosus Anterior segment developmental abnormality Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Perisylvian polymicrogyria Femoral hernia Premature loss of primary teeth Hyperextensibility of the finger joints Severe global developmental delay Cerebellar vermis hypoplasia Aplasia/Hypoplasia of the corpus callosum Widely spaced teeth Cutis laxa Narrow palate Coxa valga Abnormality of the hair Wide anterior fontanel Abnormality of retinal pigmentation Decreased body weight Mitral regurgitation Dental malocclusion Coarse hair Short metacarpal Hypodontia Delayed eruption of teeth Tapered finger Highly arched eyebrow Everted lower lip vermilion Thick vermilion border Wide nose Thick eyebrow Dilated cardiomyopathy Sleep apnea Redundant skin Advanced eruption of teeth Anteriorly placed anus Myelopathy Delayed closure of the anterior fontanelle Craniofacial hyperostosis Abnormal mitral valve morphology Restrictive cardiomyopathy Hypoplastic fingernail Acrocyanosis Soft skin Severe sensorineural hearing impairment Spinal canal stenosis Atonic seizures Prominent supraorbital ridges Thickened calvaria Broad palm Abnormality of digit Progressive spasticity Loss of consciousness Emphysema Abnormality of neuronal migration Cutis marmorata Large hands Aplasia/Hypoplasia of the cerebellum Abnormality of dental morphology Oral motor hypotonia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Scarring, related diseases and genetic alterations Neuroblastoma and Pallor, related diseases and genetic alterations Congestive heart failure and Jaundice, related diseases and genetic alterations